Linked Data
ClinVar Variation Id:
940374
dbSNP Id:
rs761812789
gnomAD v2:
12-57963091-C-T
gnomAD v4:
12-57569308-C-T
COSMIC:
COSM346362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569308C>T , CM000674.2:g.57569308C>T | GRCh38 |
| NC_000012.11:g.57963091C>T , CM000674.1:g.57963091C>T | GRCh37 |
| NC_000012.10:g.56249358C>T | NCBI36 |
| NG_008155.1:g.24245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.872C>T MANE Select | ENSP00000408979.2:p.Ser291Phe | |
| ENST00000674619.1:c.872C>T | ENSP00000502270.1:p.Ser291Phe | |
| ENST00000676081.1:n.18C>T | ||
| ENST00000676457.1:c.767C>T | ENSP00000501588.1:p.Ser256Phe | |
| ENST00000286452.5:c.605C>T | ENSP00000286452.5:p.Ser202Phe | |
| ENST00000455537.6:c.872C>T | ENSP00000408979.2:p.Ser291Phe | |
| NM_004984.2:c.872C>T | NP_004975.2:p.Ser291Phe | |
| NM_001354705.1:c.605C>T | NP_001341634.1:p.Ser202Phe | |
| NM_004984.3:c.872C>T | NP_004975.2:p.Ser291Phe | |
| XR_002957324.1:n.1105C>T | ||
| NM_004984.4:c.872C>T MANE Select | NP_004975.2:p.Ser291Phe | |
| NM_001354705.2:c.605C>T | NP_001341634.1:p.Ser202Phe |