Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911889A>G , CM000674.2:g.4911889A>G | GRCh38 |
| NC_000012.11:g.5021055A>G , CM000674.1:g.5021055A>G | GRCh37 |
| NC_000012.10:g.4891316A>G | NCBI36 |
| NG_011815.1:g.6983A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.511A>G MANE Select | ENSP00000371985.3:p.Ile171Val | |
| ENST00000543874.3:n.105+1417A>G | ||
| ENST00000639306.1:c.349A>G | ENSP00000492506.1:p.Ile117Val | |
| ENST00000382545.3:c.511A>G | ENSP00000371985.3:p.Ile171Val | |
| ENST00000541095.1:n.105+1417A>G | ||
| ENST00000543874.2:n.96+1417A>G | ||
| NM_000217.2:c.511A>G | NP_000208.2:p.Ile171Val | |
| NM_000217.3:c.511A>G MANE Select | NP_000208.2:p.Ile171Val |