Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345766C>T , CM000665.2:g.50345766C>T | GRCh38 |
| NC_000003.11:g.50383197C>T , CM000665.1:g.50383197C>T | GRCh37 |
| NC_000003.10:g.50358201C>T | NCBI36 |
| NG_023270.1:g.171G>A | |
| NG_042828.1:g.4981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-187G>A | ENSP00000231749.3:n.-187G>A | |
| XM_005265216.2:c.-315G>A | XP_005265273.1:n.-315G>A |