Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13874993G= , CM000665.2:g.13874993G= | GRCh38 |
| NC_000003.11:g.13916490G= , CM000665.1:g.13916490G= | GRCh37 |
| NC_000003.10:g.13891491G= | NCBI36 |
| NG_008088.1:g.10129C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.252C= MANE Select | ENSP00000285018.4:p.Cys84= | |
| ENST00000285018.4:c.252C= | ENSP00000285018.4:p.Cys84= | |
| ENST00000489346.1:n.121C= | ||
| ENST00000497808.1:n.484C= | ||
| NM_004625.3:c.252C= | NP_004616.2:p.Cys84= | |
| XM_011534090.1:c.51C= | XP_011532392.1:p.Cys17= | |
| XM_011534091.1:c.51C= | XP_011532393.1:p.Cys17= | |
| XM_011534091.2:c.51C= | XP_011532393.1:p.Cys17= | |
| NM_004625.4:c.252C= MANE Select | NP_004616.2:p.Cys84= |