Linked Data
ClinVar Variation Id:
309943
dbSNP Id:
rs374554951
ExAC:
12:57970616 C / T
gnomAD v2:
12-57970616-C-T
gnomAD v3:
12-57576833-C-T
gnomAD v4:
12-57576833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57576833C>T , CM000674.2:g.57576833C>T | GRCh38 |
| NC_000012.11:g.57970616C>T , CM000674.1:g.57970616C>T | GRCh37 |
| NC_000012.10:g.56256883C>T | NCBI36 |
| NG_008155.1:g.31770C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2271C>T MANE Select | ENSP00000408979.2:p.His757= | |
| ENST00000674619.1:c.2271C>T | ENSP00000502270.1:p.His757= | |
| ENST00000675299.1:c.419C>T | ENSP00000501888.1:n.419C>T | |
| ENST00000675397.1:n.41C>T | ||
| ENST00000675882.1:n.1258C>T | ||
| ENST00000675929.1:n.829C>T | ||
| ENST00000675984.1:n.2341C>T | ||
| ENST00000676081.1:n.1916C>T | ||
| ENST00000676457.1:c.2166C>T | ENSP00000501588.1:p.His722= | |
| ENST00000286452.5:c.2004C>T | ENSP00000286452.5:p.His668= | |
| ENST00000455537.6:c.2271C>T | ENSP00000408979.2:p.His757= | |
| NM_004984.2:c.2271C>T | NP_004975.2:p.His757= | |
| NM_001354705.1:c.2004C>T | NP_001341634.1:p.His668= | |
| NM_004984.3:c.2271C>T | NP_004975.2:p.His757= | |
| XR_002957324.1:n.2504C>T | ||
| NM_004984.4:c.2271C>T MANE Select | NP_004975.2:p.His757= | |
| NM_001354705.2:c.2004C>T | NP_001341634.1:p.His668= |