Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329729G= , CM000677.2:g.73329729G= | GRCh38 |
| NC_000015.9:g.73622070G= , CM000677.1:g.73622070G= | GRCh37 |
| NC_000015.8:g.71409123G= | NCBI36 |
| NG_009063.1:g.44536C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1434C= MANE Select | ENSP00000261917.3:p.Cys478= | |
| ENST00000261917.3:c.1434C= | ENSP00000261917.3:p.Cys478= | |
| NM_005477.2:c.1434C= | NP_005468.1:p.Cys478= | |
| XM_011521148.1:c.216C= | XP_011519450.1:p.Cys72= | |
| XM_011521148.2:c.216C= | XP_011519450.1:p.Cys72= | |
| NM_005477.3:c.1434C= MANE Select | NP_005468.1:p.Cys478= |