Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003747C>G , CM000683.2:g.46003747C>G | GRCh38 |
| NC_000021.8:g.47423661C>G , CM000683.1:g.47423661C>G | GRCh37 |
| NC_000021.7:g.46248089C>G | NCBI36 |
| NG_008674.1:g.26999C>G , LRG_475:g.26999C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2821C>G MANE Select | NP_001839.2:p.Leu941Val |
| ENST00000361866.8:c.2821C>G MANE Select | ENSP00000355180.3:p.Leu941Val |
| NM_001848.2:c.2821C>G , LRG_475t1:c.2821C>G | NP_001839.2:p.Leu941Val |
| ENST00000361866.7:c.2821C>G | ENSP00000355180.3:p.Leu941Val |
| ENST00000463060.6:n.1220C>G | |
| ENST00000486023.1:n.609C>G | |
| ENST00000498614.5:n.1055C>G | |
| ENST00000612273.1:c.2815C>G | ENSP00000483630.1:p.Leu939Val |
| ENST00000612273.2:c.947C>G | |
| ENST00000682634.1:c.947C>G |