Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002343G>A , CM000683.2:g.46002343G>A | GRCh38 |
| NC_000021.8:g.47422257G>A , CM000683.1:g.47422257G>A | GRCh37 |
| NC_000021.7:g.46246685G>A | NCBI36 |
| NG_008674.1:g.25595G>A , LRG_475:g.25595G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2192G>A MANE Select | NP_001839.2:p.Arg731His |
| ENST00000361866.8:c.2192G>A MANE Select | ENSP00000355180.3:p.Arg731His |
| NM_001848.2:c.2192G>A , LRG_475t1:c.2192G>A | NP_001839.2:p.Arg731His |
| ENST00000361866.7:c.2192G>A | ENSP00000355180.3:p.Arg731His |
| ENST00000463060.5:n.591G>A | |
| ENST00000463060.6:n.591G>A | |
| ENST00000498614.5:n.426G>A | |
| ENST00000612273.1:c.2186G>A | ENSP00000483630.1:p.Arg729His |
| ENST00000612273.2:c.318G>A | |
| ENST00000682634.1:c.318G>A |