Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788459T>A , CM000681.2:g.18788459T>A | GRCh38 |
| NC_000019.9:g.18899268T>A , CM000681.1:g.18899268T>A | GRCh37 |
| NC_000019.8:g.18760268T>A | NCBI36 |
| NG_007070.1:g.7847A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.818A>T MANE Select | NP_000086.2:p.Asp273Val |
| ENST00000222271.7:c.818A>T MANE Select | ENSP00000222271.2:p.Asp273Val |
| NM_000095.2:c.818A>T | NP_000086.2:p.Asp273Val |
| ENST00000222271.6:c.818A>T | ENSP00000222271.2:p.Asp273Val |
| ENST00000425807.1:c.659A>T | ENSP00000403792.1:p.Asp220Val |
| ENST00000542601.6:c.719A>T | ENSP00000439156.2:p.Asp240Val |