Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110179282T>C , CM000675.2:g.110179282T>C | GRCh38 |
| NC_000013.10:g.110831629T>C , CM000675.1:g.110831629T>C | GRCh37 |
| NC_000013.9:g.109629630T>C | NCBI36 |
| NG_011544.2:g.132868A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.2333A>G MANE Select | NP_001836.3:p.Gln778Arg |
| ENST00000375820.10:c.2333A>G MANE Select | ENSP00000364979.4:p.Gln778Arg |
| NM_001845.5:c.2333A>G | NP_001836.3:p.Gln778Arg |
| ENST00000375820.8:c.2333A>G | ENSP00000364979.4:p.Gln778Arg |
| ENST00000649738.1:n.2463A>G | |
| XM_011521048.1:c.2141A>G | XP_011519350.1:p.Gln714Arg |
| XM_011521048.2:c.2141A>G | XP_011519350.1:p.Gln714Arg |