Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133070586C>A , CM000671.2:g.133070586C>A | GRCh38 |
| NC_000009.11:g.135945973C>A , CM000671.1:g.135945973C>A | GRCh37 |
| NC_000009.10:g.134935794C>A | NCBI36 |
| NG_016394.1:g.13609C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.1412C>A MANE Select | NP_001798.3:p.Thr471Lys |
| ENST00000372080.8:c.1412C>A MANE Select | ENSP00000361151.6:p.Thr471Lys |
| NM_001807.4:c.1421C>A | NP_001798.2:p.Thr474Lys |
| NM_001807.5:c.1412C>A | NP_001798.3:p.Thr471Lys |
| ENST00000372080.6:c.1421C>A | ENSP00000361151.4:p.Thr474Lys |
| ENST00000621209.1:c.*412C>A | ENSP00000480238.1:n.*412C>A |