ClinVar

NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)

Gene:

TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1278676 (on Assembly GRCh38)
• Chr5: 1278791 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)

HGVS:

• NC_000005.10:g.1278676C>T
• NG_009265.1:g.21372G>A
• NM_001193376.3:c.2251G>A
• NM_198253.3:c.2251G>AMANE SELECT
• NP_001180305.1:p.Ala751Thr
• NP_937983.2:p.Ala751Thr
• NP_937983.2:p.Ala751Thr
• LRG_343t1:c.2251G>A
• LRG_343:g.21372G>A
• LRG_343p1:p.Ala751Thr
• NC_000005.9:g.1278791C>T
• NM_198253.2:c.2251G>A
• NR_149162.3:n.2330G>A
• NR_149163.3:n.2294G>A

This HGVS expression did not pass validation

Protein change:

A751T

Links:

dbSNP: rs772070672

NCBI 1000 Genomes Browser:

rs772070672

Molecular consequence:

• NM_001193376.3:c.2251G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.2251G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.2330G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.2294G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]