Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110186511C>T , CM000675.2:g.110186511C>T | GRCh38 |
| NC_000013.10:g.110838858C>T , CM000675.1:g.110838858C>T | GRCh37 |
| NC_000013.9:g.109636859C>T | NCBI36 |
| NG_011544.2:g.125639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.1771G>A MANE Select | ENSP00000364979.4:p.Val591Ile | |
| ENST00000649738.1:n.1901G>A | ||
| ENST00000375820.8:c.1771G>A | ENSP00000364979.4:p.Val591Ile | |
| NM_001845.5:c.1771G>A | NP_001836.3:p.Val591Ile | |
| XM_011521048.1:c.1579G>A | XP_011519350.1:p.Val527Ile | |
| XM_011521048.2:c.1579G>A | XP_011519350.1:p.Val527Ile | |
| NM_001845.6:c.1771G>A MANE Select | NP_001836.3:p.Val591Ile |