Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965572G>T , CM000663.2:g.11965572G>T | GRCh38 |
| NC_000001.10:g.12025629G>T , CM000663.1:g.12025629G>T | GRCh37 |
| NC_000001.9:g.11948216G>T | NCBI36 |
| NG_008159.1:g.35884G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1563G>T MANE Select | ENSP00000196061.4:p.Trp521Cys | |
| ENST00000196061.4:c.1563G>T | ENSP00000196061.4:p.Trp521Cys | |
| ENST00000470133.1:n.177G>T | ||
| ENST00000491536.5:n.191G>T | ||
| NM_000302.3:c.1563G>T | NP_000293.2:p.Trp521Cys | |
| NM_001316320.1:c.1704G>T | NP_001303249.1:p.Trp568Cys | |
| XM_011541594.1:c.1644G>T | XP_011539896.1:p.Trp548Cys | |
| XM_024447707.1:c.897G>T | XP_024303475.1:p.Trp299Cys | |
| NM_000302.4:c.1563G>T MANE Select | NP_000293.2:p.Trp521Cys | |
| NM_001316320.2:c.1704G>T | NP_001303249.1:p.Trp568Cys |