Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695545A>T , CM000671.2:g.12695545A>T | GRCh38 |
| NC_000009.11:g.12695545A>T , CM000671.1:g.12695545A>T | GRCh37 |
| NC_000009.10:g.12685545A>T | NCBI36 |
| NG_011705.1:g.7160A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.416A>T MANE Select | ENSP00000373570.4:p.Glu139Val | |
| ENST00000388918.9:c.416A>T | ENSP00000373570.4:p.Glu139Val | |
| NM_000550.2:c.416A>T | NP_000541.1:p.Glu139Val | |
| XR_001746372.2:n.605A>T | ||
| NM_000550.3:c.416A>T MANE Select | NP_000541.1:p.Glu139Val |