Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133071636G>A , CM000671.2:g.133071636G>A | GRCh38 |
| NC_000009.11:g.135947023G>A , CM000671.1:g.135947023G>A | GRCh37 |
| NC_000009.10:g.134936844G>A | NCBI36 |
| NG_016394.1:g.14659G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.2134G>A MANE Select | NP_001798.3:p.Ala712Thr |
| ENST00000372080.8:c.2134G>A MANE Select | ENSP00000361151.6:p.Ala712Thr |
| NM_001807.4:c.2143G>A | NP_001798.2:p.Ala715Thr |
| NM_001807.5:c.2134G>A | NP_001798.3:p.Ala712Thr |
| ENST00000372080.6:c.2143G>A | ENSP00000361151.4:p.Ala715Thr |
| ENST00000621209.1:c.*723+411G>A | ENSP00000480238.1:n.*723+411G>A |