Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173208097C>G , CM000663.2:g.173208097C>G | GRCh38 |
| NC_000001.10:g.173177236C>G , CM000663.1:g.173177236C>G | GRCh37 |
| NC_000001.9:g.171443859C>G | NCBI36 |
| NG_011477.1:g.4236G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011509964.2:c.148G>C | XP_011508266.2:p.Asp50His | |
| XM_017002229.1:c.25-912G>C | XP_016857718.1:n.25-912G>C | |
| XM_017002230.1:c.19-912G>C | XP_016857719.1:n.19-912G>C |