ClinVar

NM_198253.3(TERT):c.136G>T (p.Ala46Ser)

Genes:

LOC110806263:TERT 5' regulatory region [Gene]
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1294854 (on Assembly GRCh38)
• Chr5: 1294969 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.136G>T (p.Ala46Ser)

HGVS:

• NC_000005.10:g.1294854C>A
• NG_009265.1:g.5194G>T
• NG_055467.1:g.327C>A
• NM_001193376.3:c.136G>T
• NM_198253.3:c.136G>TMANE SELECT
• NP_001180305.1:p.Ala46Ser
• NP_937983.2:p.Ala46Ser
• LRG_343t1:c.136G>T
• LRG_343:g.5194G>T
• NC_000005.9:g.1294969C>A
• NM_198253.2:c.136G>T
• NR_149162.3:n.215G>T
• NR_149163.3:n.215G>T

This HGVS expression did not pass validation

Protein change:

A46S

Links:

dbSNP: rs1579599228

NCBI 1000 Genomes Browser:

rs1579599228

Molecular consequence:

• NM_001193376.3:c.136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.215G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.215G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]