Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4765526A>G , CM000674.2:g.4765526A>G | GRCh38 |
| NC_000012.11:g.4874692A>G , CM000674.1:g.4874692A>G | GRCh37 |
| NC_000012.10:g.4744953A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017417.2:c.1741A>G MANE Select | NP_059113.1:p.Ile581Val |
| ENST00000252318.7:c.1741A>G MANE Select | ENSP00000252318.2:p.Ile581Val |
| NM_017417.1:c.1741A>G | NP_059113.1:p.Ile581Val |
| ENST00000252318.6:c.1741A>G | ENSP00000252318.2:p.Ile581Val |
| ENST00000535354.1:c.228A>G | |
| ENST00000542998.5:c.291A>G | |
| ENST00000648836.1:c.1531A>G | ENSP00000497305.1:p.Ile511Val |
| ENST00000648865.1:n.593A>G |