Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322948G>C , CM000677.2:g.73322948G>C | GRCh38 |
| NC_000015.9:g.73615289G>C , CM000677.1:g.73615289G>C | GRCh37 |
| NC_000015.8:g.71402342G>C | NCBI36 |
| NG_009063.1:g.51317C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3145C>G MANE Select | ENSP00000261917.3:p.His1049Asp | |
| ENST00000261917.3:c.3145C>G | ENSP00000261917.3:p.His1049Asp | |
| NM_005477.2:c.3145C>G | NP_005468.1:p.His1049Asp | |
| XM_011521148.1:c.1927C>G | XP_011519450.1:p.His643Asp | |
| XM_011521148.2:c.1927C>G | XP_011519450.1:p.His643Asp | |
| NM_005477.3:c.3145C>G MANE Select | NP_005468.1:p.His1049Asp |