Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974723A>G , CM000663.2:g.11974723A>G | GRCh38 |
| NC_000001.10:g.12034780A>G , CM000663.1:g.12034780A>G | GRCh37 |
| NC_000001.9:g.11957367A>G | NCBI36 |
| NG_008159.1:g.45035A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.2099A>G MANE Select | ENSP00000196061.4:p.His700Arg | |
| ENST00000196061.4:c.2099A>G | ENSP00000196061.4:p.His700Arg | |
| ENST00000481933.1:n.1526A>G | ||
| ENST00000491536.5:n.384-560A>G | ||
| NM_000302.3:c.2099A>G | NP_000293.2:p.His700Arg | |
| NM_001316320.1:c.2240A>G | NP_001303249.1:p.His747Arg | |
| XM_011541594.1:c.2180A>G | XP_011539896.1:p.His727Arg | |
| XM_024447707.1:c.1433A>G | XP_024303475.1:p.His478Arg | |
| NM_000302.4:c.2099A>G MANE Select | NP_000293.2:p.His700Arg | |
| NM_001316320.2:c.2240A>G | NP_001303249.1:p.His747Arg |