Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965524G= , CM000663.2:g.11965524G= | GRCh38 |
| NC_000001.10:g.12025581G= , CM000663.1:g.12025581G= | GRCh37 |
| NC_000001.9:g.11948168G= | NCBI36 |
| NG_008159.1:g.35836G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1515G= MANE Select | ENSP00000196061.4:p.Leu505= | |
| ENST00000196061.4:c.1515G= | ENSP00000196061.4:p.Leu505= | |
| ENST00000470133.1:n.129G= | ||
| ENST00000491536.5:n.143G= | ||
| NM_000302.3:c.1515G= | NP_000293.2:p.Leu505= | |
| NM_001316320.1:c.1656G= | NP_001303249.1:p.Leu552= | |
| XM_011541594.1:c.1596G= | XP_011539896.1:p.Leu532= | |
| XM_024447707.1:c.849G= | XP_024303475.1:p.Leu283= | |
| NM_000302.4:c.1515G= MANE Select | NP_000293.2:p.Leu505= | |
| NM_001316320.2:c.1656G= | NP_001303249.1:p.Leu552= |