Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519824T>A , CM000674.2:g.52519824T>A | GRCh38 |
| NC_000012.11:g.52913608T>A , CM000674.1:g.52913608T>A | GRCh37 |
| NC_000012.10:g.51199875T>A | NCBI36 |
| NG_008297.1:g.5636A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.473A>T MANE Select | ENSP00000252242.4:p.Asp158Val | |
| ENST00000252242.8:c.473A>T | ENSP00000252242.4:p.Asp158Val | |
| ENST00000549420.1:c.143A>T | ENSP00000447209.1:p.Asp48Val | |
| ENST00000551275.1:c.368A>T | ENSP00000448041.1:p.Asp123Val | |
| ENST00000552629.5:n.571A>T | ||
| NM_000424.3:c.473A>T | NP_000415.2:p.Asp158Val | |
| NM_000424.4:c.473A>T MANE Select | NP_000415.2:p.Asp158Val |