Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367734G= , CM000677.2:g.73367734G= | GRCh38 |
| NC_000015.9:g.73660075G= , CM000677.1:g.73660075G= | GRCh37 |
| NC_000015.8:g.71447128G= | NCBI36 |
| NG_009063.1:g.6531C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.537C= MANE Select | ENSP00000261917.3:p.Cys179= | |
| ENST00000261917.3:c.537C= | ENSP00000261917.3:p.Cys179= | |
| NM_005477.2:c.537C= | NP_005468.1:p.Cys179= | |
| NM_005477.3:c.537C= MANE Select | NP_005468.1:p.Cys179= |