Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915956G>A , CM000663.2:g.119915956G>A | GRCh38 |
| NC_000001.10:g.120458579G>A , CM000663.1:g.120458579G>A | GRCh37 |
| NC_000001.9:g.120260102G>A | NCBI36 |
| NG_008163.1:g.158698C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.6766C>T MANE Select | NP_077719.2:p.Arg2256Cys |
| ENST00000256646.7:c.6766C>T MANE Select | ENSP00000256646.2:p.Arg2256Cys |
| NM_024408.3:c.6766C>T | NP_077719.2:p.Arg2256Cys |
| ENST00000256646.6:c.6766C>T | ENSP00000256646.2:p.Arg2256Cys |
| XM_005270901.2:c.6649C>T | XP_005270958.1:p.Arg2217Cys |
| XM_011541519.1:c.6754C>T | XP_011539821.1:p.Arg2252Cys |
| XM_011541520.1:c.6649C>T | XP_011539822.1:p.Arg2217Cys |