Linked Data
ClinVar Variation Id:
161628
dbSNP Id:
rs193920755
gnomAD v4:
12-57578296-C-T
COSMIC:
COSM1178590
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57578296C>T , CM000674.2:g.57578296C>T | GRCh38 |
| NC_000012.11:g.57972079C>T , CM000674.1:g.57972079C>T | GRCh37 |
| NC_000012.10:g.56258346C>T | NCBI36 |
| NG_008155.1:g.33233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2492C>T MANE Select | ENSP00000408979.2:p.Ser831Phe | |
| ENST00000674619.1:c.2492C>T | ENSP00000502270.1:p.Ser831Phe | |
| ENST00000674776.1:c.59C>T | ENSP00000502434.1:p.Ser20Phe | |
| ENST00000675397.1:n.262C>T | ||
| ENST00000675882.1:n.1714C>T | ||
| ENST00000675907.1:c.59C>T | ENSP00000502360.1:p.Ser20Phe | |
| ENST00000675929.1:n.1050C>T | ||
| ENST00000675984.1:n.2797C>T | ||
| ENST00000676081.1:n.2137C>T | ||
| ENST00000676457.1:c.2387C>T | ENSP00000501588.1:p.Ser796Phe | |
| ENST00000286452.5:c.2225C>T | ENSP00000286452.5:p.Ser742Phe | |
| ENST00000455537.6:c.2492C>T | ENSP00000408979.2:p.Ser831Phe | |
| NM_004984.2:c.2492C>T | NP_004975.2:p.Ser831Phe | |
| NM_001354705.1:c.2225C>T | NP_001341634.1:p.Ser742Phe | |
| NM_004984.3:c.2492C>T | NP_004975.2:p.Ser831Phe | |
| XR_002957324.1:n.2725C>T | ||
| NM_004984.4:c.2492C>T MANE Select | NP_004975.2:p.Ser831Phe | |
| NM_001354705.2:c.2225C>T | NP_001341634.1:p.Ser742Phe |