Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153695075G>A , CM000685.2:g.153695075G>A | GRCh38 |
| NC_000023.10:g.152960530G>A , CM000685.1:g.152960530G>A | GRCh37 |
| NC_000023.9:g.152613724G>A | NCBI36 |
| NG_012016.1:g.11779G>A | |
| NG_012016.2:g.11779G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1769G>A MANE Select | NP_005620.1:p.Arg590His |
| ENST00000253122.10:c.1769G>A MANE Select | ENSP00000253122.5:p.Arg590His |
| NM_001142805.1:c.1739G>A | NP_001136277.1:p.Arg580His |
| NM_001142805.2:c.1739G>A | NP_001136277.1:p.Arg580His |
| NM_001142806.1:c.1424G>A | NP_001136278.1:p.Arg475His |
| NM_005629.3:c.1769G>A | NP_005620.1:p.Arg590His |
| ENST00000253122.9:c.1769G>A | ENSP00000253122.5:p.Arg590His |
| ENST00000430077.6:c.1424G>A | ENSP00000403041.2:p.Arg475His |
| ENST00000485324.1:n.2076G>A |