Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974757C>G , CM000663.2:g.11974757C>G | GRCh38 |
| NC_000001.10:g.12034814C>G , CM000663.1:g.12034814C>G | GRCh37 |
| NC_000001.9:g.11957401C>G | NCBI36 |
| NG_008159.1:g.45069C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.2133C>G MANE Select | ENSP00000196061.4:p.Leu711= | |
| ENST00000196061.4:c.2133C>G | ENSP00000196061.4:p.Leu711= | |
| ENST00000481933.1:n.1560C>G | ||
| ENST00000491536.5:n.384-526C>G | ||
| NM_000302.3:c.2133C>G | NP_000293.2:p.Leu711= | |
| NM_001316320.1:c.2274C>G | NP_001303249.1:p.Leu758= | |
| XM_011541594.1:c.2214C>G | XP_011539896.1:p.Leu738= | |
| XM_024447707.1:c.1467C>G | XP_024303475.1:p.Leu489= | |
| NM_000302.4:c.2133C>G MANE Select | NP_000293.2:p.Leu711= | |
| NM_001316320.2:c.2274C>G | NP_001303249.1:p.Leu758= |