Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353760G>T , CM000671.2:g.133353760G>T | GRCh38 |
| NC_000009.10:g.135210436G>T | NCBI36 |
| NG_008477.1:g.7747C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.504C>A MANE Select | NP_003163.1:p.Cys168Ter |
| ENST00000371974.8:c.504C>A MANE Select | ENSP00000361042.3:p.Cys168Ter |
| NM_001280787.1:c.177C>A | NP_001267716.1:p.Cys59Ter |
| NM_003172.3:c.504C>A | NP_003163.1:p.Cys168Ter |
| ENST00000371974.7:c.504C>A | ENSP00000361042.3:p.Cys168Ter |
| ENST00000437995.1:n.450C>A | |
| ENST00000495952.5:n.494C>A | |
| ENST00000615505.4:c.177C>A | ENSP00000482067.1:p.Cys59Ter |
| XM_011518942.1:c.177C>A | XP_011517244.1:p.Cys59Ter |