Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002390C>G , CM000683.2:g.46002390C>G | GRCh38 |
| NC_000021.8:g.47422304C>G , CM000683.1:g.47422304C>G | GRCh37 |
| NC_000021.7:g.46246732C>G | NCBI36 |
| NG_008674.1:g.25642C>G , LRG_475:g.25642C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2239C>G MANE Select | NP_001839.2:p.Pro747Ala |
| ENST00000361866.8:c.2239C>G MANE Select | ENSP00000355180.3:p.Pro747Ala |
| NM_001848.2:c.2239C>G , LRG_475t1:c.2239C>G | NP_001839.2:p.Pro747Ala |
| ENST00000361866.7:c.2239C>G | ENSP00000355180.3:p.Pro747Ala |
| ENST00000463060.5:n.638C>G | |
| ENST00000463060.6:n.638C>G | |
| ENST00000498614.5:n.473C>G | |
| ENST00000612273.1:c.2233C>G | ENSP00000483630.1:p.Pro745Ala |
| ENST00000612273.2:c.365C>G | |
| ENST00000682634.1:c.365C>G |