Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.256001C>T , CM000669.2:g.256001C>T | GRCh38 |
| NC_000007.13:g.295967C>T , CM000669.1:g.295967C>T | GRCh37 |
| NG_033970.1:g.65637C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1225C>T MANE Select | NP_064608.2:p.Arg409Cys |
| ENST00000313766.6:c.1225C>T MANE Select | ENSP00000322323.5:p.Arg409Cys |
| NM_020223.3:c.1225C>T | NP_064608.2:p.Arg409Cys |
| ENST00000313766.5:c.1225C>T | ENSP00000322323.5:p.Arg409Cys |
| ENST00000515795.1:n.882C>T | |
| XM_017012450.1:c.1486C>T | XP_016867939.1:p.Arg496Cys |
| XM_017012451.1:c.1483C>T | XP_016867940.1:p.Arg495Cys |
| XM_017012455.2:c.523C>T | XP_016867944.1:p.Arg175Cys |
| XR_242097.3:n.1372C>T |