Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965542C= , CM000663.2:g.11965542C= | GRCh38 |
| NC_000001.10:g.12025599C= , CM000663.1:g.12025599C= | GRCh37 |
| NC_000001.9:g.11948186C= | NCBI36 |
| NG_008159.1:g.35854C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.1533C= MANE Select | NP_000293.2:p.Tyr511= |
| ENST00000196061.5:c.1533C= MANE Select | ENSP00000196061.4:p.Tyr511= |
| NM_000302.3:c.1533C= | NP_000293.2:p.Tyr511= |
| NM_001316320.1:c.1674C= | NP_001303249.1:p.Tyr558= |
| NM_001316320.2:c.1674C= | NP_001303249.1:p.Tyr558= |
| ENST00000196061.4:c.1533C= | ENSP00000196061.4:p.Tyr511= |
| ENST00000470133.1:n.147C= | |
| ENST00000491536.5:n.161C= | |
| XM_011541594.1:c.1614C= | XP_011539896.1:p.Tyr538= |
| XM_024447707.1:c.867C= | XP_024303475.1:p.Tyr289= |