Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472716C>T , CM000666.2:g.139472716C>T | GRCh38 |
| NC_000004.11:g.140393870C>T , CM000666.1:g.140393870C>T | GRCh37 |
| NC_000004.10:g.140613320C>T | NCBI36 |
| NG_051587.1:g.24485C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.280C>T MANE Select | NP_112586.1:p.Arg94Ter |
| ENST00000305626.6:c.280C>T MANE Select | ENSP00000306496.5:p.Arg94Ter |
| NM_031296.1:c.280C>T | NP_112586.1:p.Arg94Ter |
| NM_031296.2:c.280C>T | NP_112586.1:p.Arg94Ter |
| ENST00000305626.5:c.280C>T | ENSP00000306496.5:p.Arg94Ter |
| ENST00000652268.1:c.424C>T | ENSP00000498778.1:p.Arg142Ter |
| XM_011532299.1:c.424C>T | XP_011530601.1:p.Arg142Ter |