Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12021752A>G , CM000663.2:g.12021752A>G | GRCh38 |
| NC_000001.10:g.12081809A>G , CM000663.1:g.12081809A>G | GRCh37 |
| NC_000001.9:g.12004396A>G | NCBI36 |
| NG_030022.1:g.7511A>G | |
| NG_030022.2:g.7511A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021933.4:c.26A>G MANE Select | NP_068752.2:p.Gln9Arg |
| ENST00000235332.6:c.26A>G MANE Select | ENSP00000235332.4:p.Gln9Arg |
| NM_021933.3:c.26A>G | NP_068752.2:p.Gln9Arg |
| ENST00000235332.5:c.26A>G | ENSP00000235332.4:p.Gln9Arg |
| ENST00000478749.5:n.88-343A>G | |
| XM_005263487.2:c.26A>G | XP_005263544.1:p.Gln9Arg |
| XM_005263487.4:c.26A>G | XP_005263544.1:p.Gln9Arg |
| XM_011541895.1:c.26A>G | XP_011540197.1:p.Gln9Arg |
| XM_011541896.1:c.26A>G | XP_011540198.1:p.Gln9Arg |