Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029590A>C , CM000677.2:g.65029590A>C | GRCh38 |
| NC_000015.9:g.65321928A>C , CM000677.1:g.65321928A>C | GRCh37 |
| NC_000015.8:g.63108981A>C | NCBI36 |
| NG_029184.1:g.5050T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.24T>G MANE Select | ENSP00000220058.4:p.Cys8Trp | |
| ENST00000220058.8:c.24T>G | ENSP00000220058.4:p.Cys8Trp | |
| ENST00000543678.1:c.24T>G | ENSP00000443754.1:p.Cys8Trp | |
| ENST00000558460.5:c.24T>G | ENSP00000452646.1:p.Cys8Trp | |
| ENST00000560717.5:c.9T>G | ENSP00000457257.1:p.Cys3Trp | |
| NM_139242.3:c.24T>G | NP_640335.2:p.Cys8Trp | |
| XM_005254158.5:c.24T>G | XP_005254215.2:p.Cys8Trp | |
| XR_001751081.1:n.39T>G | ||
| NM_139242.4:c.24T>G MANE Select | NP_640335.2:p.Cys8Trp |