Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345794G>C , CM000665.2:g.50345794G>C | GRCh38 |
| NC_000003.11:g.50383225G>C , CM000665.1:g.50383225G>C | GRCh37 |
| NC_000003.10:g.50358229G>C | NCBI36 |
| NG_023270.1:g.143C>G | |
| NG_042828.1:g.4953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-215C>G | ENSP00000231749.3:n.-215C>G | |
| XM_005265216.2:c.-343C>G | XP_005265273.1:n.-343C>G |