Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003967G>A , CM000683.2:g.46003967G>A | GRCh38 |
| NC_000021.8:g.47423881G>A , CM000683.1:g.47423881G>A | GRCh37 |
| NC_000021.7:g.46248309G>A | NCBI36 |
| NG_008674.1:g.27219G>A , LRG_475:g.27219G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.3041G>A MANE Select | NP_001839.2:p.Arg1014His |
| ENST00000361866.8:c.3041G>A MANE Select | ENSP00000355180.3:p.Arg1014His |
| NM_001848.2:c.3041G>A , LRG_475t1:c.3041G>A | NP_001839.2:p.Arg1014His |
| ENST00000361866.7:c.3041G>A | ENSP00000355180.3:p.Arg1014His |
| ENST00000463060.6:n.1440G>A | |
| ENST00000486023.1:n.829G>A | |
| ENST00000498614.5:n.1275G>A | |
| ENST00000612273.1:c.3035G>A | ENSP00000483630.1:p.Arg1012His |
| ENST00000612273.2:c.1167G>A | |
| ENST00000682634.1:c.1057+110G>A |