Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11966298A>C , CM000663.2:g.11966298A>C | GRCh38 |
| NC_000001.10:g.12026355A>C , CM000663.1:g.12026355A>C | GRCh37 |
| NC_000001.9:g.11948942A>C | NCBI36 |
| NG_008159.1:g.36610A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1632A>C MANE Select | ENSP00000196061.4:p.Ala544= | |
| ENST00000196061.4:c.1632A>C | ENSP00000196061.4:p.Ala544= | |
| ENST00000470133.1:n.246A>C | ||
| ENST00000491536.5:n.260A>C | ||
| NM_000302.3:c.1632A>C | NP_000293.2:p.Ala544= | |
| NM_001316320.1:c.1773A>C | NP_001303249.1:p.Ala591= | |
| XM_011541594.1:c.1713A>C | XP_011539896.1:p.Ala571= | |
| XM_024447707.1:c.966A>C | XP_024303475.1:p.Ala322= | |
| NM_000302.4:c.1632A>C MANE Select | NP_000293.2:p.Ala544= | |
| NM_001316320.2:c.1773A>C | NP_001303249.1:p.Ala591= |