Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133064759C>T , CM000671.2:g.133064759C>T | GRCh38 |
| NC_000009.11:g.135940146C>T , CM000671.1:g.135940146C>T | GRCh37 |
| NC_000009.10:g.134929967C>T | NCBI36 |
| NG_016394.1:g.7782C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.337C>T MANE Select | NP_001798.3:p.Gln113Ter |
| ENST00000372080.8:c.337C>T MANE Select | ENSP00000361151.6:p.Gln113Ter |
| NM_001807.4:c.346C>T | NP_001798.2:p.Gln116Ter |
| NM_001807.5:c.337C>T | NP_001798.3:p.Gln113Ter |
| ENST00000372080.6:c.346C>T | ENSP00000361151.4:p.Gln116Ter |
| ENST00000621209.1:c.75+2691C>T | ENSP00000480238.1:n.75+2691C>T |