ClinVar

NM_198253.3(TERT):c.1539C>T (p.Ser513=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1293347 (on Assembly GRCh38)
• Chr5: 1293462 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.1539C>T (p.Ser513=)

HGVS:

• NC_000005.10:g.1293347G>A
• NG_009265.1:g.6701C>T
• NM_001193376.3:c.1539C>T
• NM_198253.2:c.1539C>T
• NM_198253.3:c.1539C>TMANE SELECT
• NP_001180305.1:p.Ser513=
• NP_937983.2:p.Ser513=
• LRG_343t1:c.1539C>T
• LRG_343:g.6701C>T
• NC_000005.9:g.1293462G>A
• NR_149162.3:n.1618C>T
• NR_149163.3:n.1618C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1026564018

NCBI 1000 Genomes Browser:

rs1026564018

Molecular consequence:

• NR_149162.3:n.1618C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.1618C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193376.3:c.1539C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198253.3:c.1539C>T - synonymous variant - [Sequence Ontology: SO:0001819]