Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107949416A>T , CM000666.2:g.107949416A>T | GRCh38 |
| NC_000004.11:g.108870572A>T , CM000666.1:g.108870572A>T | GRCh37 |
| NC_000004.10:g.109090021A>T | NCBI36 |
| NG_007961.1:g.22856A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1355A>T MANE Select | NP_898898.1:p.Asp452Val |
| ENST00000332884.11:c.1355A>T MANE Select | ENSP00000333212.6:p.Asp452Val |
| NM_183075.2:c.1355A>T | NP_898898.1:p.Asp452Val |
| ENST00000332884.10:c.1355A>T | ENSP00000333212.6:p.Asp452Val |
| ENST00000508453.1:c.728A>T | ENSP00000423667.1:p.Asp243Val |
| XM_005262717.2:c.1409A>T | XP_005262774.1:p.Asp470Val |
| XM_005262720.2:c.719A>T | XP_005262777.1:p.Asp240Val |
| XR_001741783.1:n.156-38867T>A | |
| XR_001741784.1:n.530+29304T>A |