Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133071161C>G , CM000671.2:g.133071161C>G | GRCh38 |
| NC_000009.11:g.135946548C>G , CM000671.1:g.135946548C>G | GRCh37 |
| NC_000009.10:g.134936369C>G | NCBI36 |
| NG_016394.1:g.14184C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.1659C>G MANE Select | NP_001798.3:p.Thr553= |
| ENST00000372080.8:c.1659C>G MANE Select | ENSP00000361151.6:p.Thr553= |
| NM_001807.4:c.1668C>G | NP_001798.2:p.Thr556= |
| NM_001807.5:c.1659C>G | NP_001798.3:p.Thr553= |
| ENST00000372080.6:c.1668C>G | ENSP00000361151.4:p.Thr556= |
| ENST00000621209.1:c.*659C>G | ENSP00000480238.1:n.*659C>G |