Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002536G>A , CM000683.2:g.46002536G>A | GRCh38 |
| NC_000021.8:g.47422450G>A , CM000683.1:g.47422450G>A | GRCh37 |
| NC_000021.7:g.46246878G>A | NCBI36 |
| NG_008674.1:g.25788G>A , LRG_475:g.25788G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2260G>A MANE Select | NP_001839.2:p.Val754Met |
| ENST00000361866.8:c.2260G>A MANE Select | ENSP00000355180.3:p.Val754Met |
| NM_001848.2:c.2260G>A , LRG_475t1:c.2260G>A | NP_001839.2:p.Val754Met |
| ENST00000361866.7:c.2260G>A | ENSP00000355180.3:p.Val754Met |
| ENST00000463060.5:n.659G>A | |
| ENST00000463060.6:n.659G>A | |
| ENST00000486023.1:n.48G>A | |
| ENST00000498614.5:n.494G>A | |
| ENST00000612273.1:c.2254G>A | ENSP00000483630.1:p.Val752Met |
| ENST00000612273.2:c.386G>A | |
| ENST00000682634.1:c.386G>A |