gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57585407C>T , CM000674.2:g.57585407C>T | GRCh38 |
| NC_000012.11:g.57979190C>T , CM000674.1:g.57979190C>T | GRCh37 |
| NC_000012.10:g.56265457C>T | NCBI36 |
| NG_008155.1:g.40344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.*1226C>T MANE Select | ENSP00000408979.2:n.*1226C>T | |
| ENST00000674619.1:c.*1226C>T | ENSP00000502270.1:n.*1226C>T | |
| ENST00000674980.1:c.393C>T | ||
| ENST00000675433.1:c.116-199C>T | ||
| ENST00000675737.1:n.2849C>T | ||
| ENST00000675882.1:n.4319C>T | ||
| ENST00000676437.1:c.2823C>T | ||
| ENST00000676457.1:c.*1226C>T | ENSP00000501588.1:n.*1226C>T | |
| ENST00000455537.6:c.*1226C>T | ENSP00000408979.2:n.*1226C>T | |
| NM_001354705.1:c.*1226C>T | NP_001341634.1:n.*1226C>T | |
| NM_004984.3:c.*1226C>T | NP_004975.2:n.*1226C>T | |
| XR_002957324.1:n.5029C>T | ||
| NM_004984.4:c.*1226C>T MANE Select | NP_004975.2:n.*1226C>T | |
| NM_001354705.2:c.*1226C>T | NP_001341634.1:n.*1226C>T |