Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9857553T>A , CM000674.2:g.9857553T>A | GRCh38 |
| NC_000012.11:g.10010152T>A , CM000674.1:g.10010152T>A | GRCh37 |
| NC_000012.10:g.9901419T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005127.3:c.158A>T MANE Select | NP_005118.2:p.Glu53Val |
| ENST00000228438.3:c.158A>T MANE Select | ENSP00000228438.2:p.Glu53Val |
| NM_005127.2:c.158A>T | NP_005118.2:p.Glu53Val |
| ENST00000228438.2:c.158A>T | ENSP00000228438.2:p.Glu53Val |
| ENST00000539028.1:n.235A>T | |
| ENST00000540743.1:n.342A>T |