Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014214C= , CM000663.2:g.1014214C= | GRCh38 |
| NC_000001.10:g.949594C= , CM000663.1:g.949594C= | GRCh37 |
| NC_000001.9:g.939457C= | NCBI36 |
| NG_033033.1:g.5748C= | |
| NG_033033.2:g.18077C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.210C= | ENSP00000485643.1:p.Cys70= | |
| ENST00000649529.1:c.234C= MANE Select | ENSP00000496832.1:p.Cys78= | |
| ENST00000379389.4:c.234C= | ENSP00000368699.4:p.Cys78= | |
| ENST00000624652.1:c.210C= | ENSP00000485313.1:p.Cys70= | |
| ENST00000624697.3:c.210C= | ENSP00000485643.1:p.Cys70= | |
| NM_005101.3:c.234C= | NP_005092.1:p.Cys78= | |
| NM_005101.4:c.234C= MANE Select | NP_005092.1:p.Cys78= |