Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786009T>A , CM000681.2:g.18786009T>A | GRCh38 |
| NC_000019.9:g.18896819T>A , CM000681.1:g.18896819T>A | GRCh37 |
| NC_000019.8:g.18757819T>A | NCBI36 |
| NG_007070.1:g.10296A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1445A>T MANE Select | NP_000086.2:p.Asp482Val |
| ENST00000222271.7:c.1445A>T MANE Select | ENSP00000222271.2:p.Asp482Val |
| NM_000095.2:c.1445A>T | NP_000086.2:p.Asp482Val |
| ENST00000222271.6:c.1445A>T | ENSP00000222271.2:p.Asp482Val |
| ENST00000425807.1:c.1286A>T | ENSP00000403792.1:p.Asp429Val |
| ENST00000542601.6:c.1346A>T | ENSP00000439156.2:p.Asp449Val |