Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153695084A>G , CM000685.2:g.153695084A>G | GRCh38 |
| NC_000023.10:g.152960539A>G , CM000685.1:g.152960539A>G | GRCh37 |
| NC_000023.9:g.152613733A>G | NCBI36 |
| NG_012016.1:g.11788A>G | |
| NG_012016.2:g.11788A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1778A>G MANE Select | NP_005620.1:p.His593Arg |
| ENST00000253122.10:c.1778A>G MANE Select | ENSP00000253122.5:p.His593Arg |
| NM_001142805.1:c.1748A>G | NP_001136277.1:p.His583Arg |
| NM_001142805.2:c.1748A>G | NP_001136277.1:p.His583Arg |
| NM_001142806.1:c.1433A>G | NP_001136278.1:p.His478Arg |
| NM_005629.3:c.1778A>G | NP_005620.1:p.His593Arg |
| ENST00000253122.9:c.1778A>G | ENSP00000253122.5:p.His593Arg |
| ENST00000430077.6:c.1433A>G | ENSP00000403041.2:p.His478Arg |
| ENST00000485324.1:n.2085A>G |