Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003940G>A , CM000683.2:g.46003940G>A | GRCh38 |
| NC_000021.8:g.47423854G>A , CM000683.1:g.47423854G>A | GRCh37 |
| NC_000021.7:g.46248282G>A | NCBI36 |
| NG_008674.1:g.27192G>A , LRG_475:g.27192G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.3014G>A MANE Select | NP_001839.2:p.Arg1005His |
| ENST00000361866.8:c.3014G>A MANE Select | ENSP00000355180.3:p.Arg1005His |
| NM_001848.2:c.3014G>A , LRG_475t1:c.3014G>A | NP_001839.2:p.Arg1005His |
| ENST00000361866.7:c.3014G>A | ENSP00000355180.3:p.Arg1005His |
| ENST00000463060.6:n.1413G>A | |
| ENST00000486023.1:n.802G>A | |
| ENST00000498614.5:n.1248G>A | |
| ENST00000612273.1:c.3008G>A | ENSP00000483630.1:p.Arg1003His |
| ENST00000612273.2:c.1140G>A | |
| ENST00000682634.1:c.1057+83G>A |