Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119949105A>C , CM000663.2:g.119949105A>C | GRCh38 |
| NC_000001.10:g.120491728A>C , CM000663.1:g.120491728A>C | GRCh37 |
| NC_000001.9:g.120293251A>C | NCBI36 |
| NG_008163.1:g.125549T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.2501T>G MANE Select | NP_077719.2:p.Leu834Trp |
| ENST00000256646.7:c.2501T>G MANE Select | ENSP00000256646.2:p.Leu834Trp |
| NM_001200001.1:c.2501T>G | NP_001186930.1:p.Leu834Trp |
| NM_001200001.2:c.2501T>G | NP_001186930.1:p.Leu834Trp |
| NM_024408.3:c.2501T>G | NP_077719.2:p.Leu834Trp |
| ENST00000256646.6:c.2501T>G | ENSP00000256646.2:p.Leu834Trp |
| XM_005270901.2:c.2384T>G | XP_005270958.1:p.Leu795Trp |
| XM_011541519.1:c.2489T>G | XP_011539821.1:p.Leu830Trp |
| XM_011541520.1:c.2384T>G | XP_011539822.1:p.Leu795Trp |