Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139454339C>A , CM000666.2:g.139454339C>A | GRCh38 |
| NC_000004.11:g.140375493C>A , CM000666.1:g.140375493C>A | GRCh37 |
| NC_000004.10:g.140594943C>A | NCBI36 |
| NG_051587.1:g.6108C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.144C>A MANE Select | NP_112586.1:p.Cys48Ter |
| ENST00000305626.6:c.144C>A MANE Select | ENSP00000306496.5:p.Cys48Ter |
| NM_031296.1:c.144C>A | NP_112586.1:p.Cys48Ter |
| NM_031296.2:c.144C>A | NP_112586.1:p.Cys48Ter |
| ENST00000305626.5:c.144C>A | ENSP00000306496.5:p.Cys48Ter |
| ENST00000652268.1:c.288C>A | ENSP00000498778.1:p.Cys96Ter |
| XM_011532299.1:c.288C>A | XP_011530601.1:p.Cys96Ter |