Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114236317T>A , CM000665.2:g.114236317T>A | GRCh38 |
| NC_000003.11:g.113955164T>A , CM000665.1:g.113955164T>A | GRCh37 |
| NC_000003.10:g.115437854T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007136.4:c.758A>T MANE Select | NP_009067.2:p.Asp253Val |
| ENST00000482457.4:c.758A>T MANE Select | ENSP00000417192.3:p.Asp253Val |
| NM_007136.3:c.758A>T | NP_009067.2:p.Asp253Val |
| ENST00000308095.4:c.758A>T | ENSP00000309812.4:p.Asp253Val |
| ENST00000482457.3:c.758A>T | ENSP00000417192.2:p.Asp253Val |
| ENST00000619534.1:c.758A>T | ENSP00000483565.1:p.Asp253Val |