Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786242T>A , CM000681.2:g.18786242T>A | GRCh38 |
| NC_000019.9:g.18897052T>A , CM000681.1:g.18897052T>A | GRCh37 |
| NC_000019.8:g.18758052T>A | NCBI36 |
| NG_007070.1:g.10063A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1304A>T MANE Select | ENSP00000222271.2:p.Asp435Val | |
| ENST00000222271.6:c.1304A>T | ENSP00000222271.2:p.Asp435Val | |
| ENST00000425807.1:c.1145A>T | ENSP00000403792.1:p.Asp382Val | |
| ENST00000542601.6:c.1205A>T | ENSP00000439156.2:p.Asp402Val | |
| ENST00000612179.1:n.554A>T | ||
| NM_000095.2:c.1304A>T | NP_000086.2:p.Asp435Val | |
| NM_000095.3:c.1304A>T MANE Select | NP_000086.2:p.Asp435Val |