Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345740C>T , CM000665.2:g.50345740C>T | GRCh38 |
| NC_000003.11:g.50383171C>T , CM000665.1:g.50383171C>T | GRCh37 |
| NC_000003.10:g.50358175C>T | NCBI36 |
| NG_023270.1:g.197G>A | |
| NG_042828.1:g.5007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-161G>A | ENSP00000231749.3:n.-161G>A | |
| NM_001308379.1:c.-161G>A | NP_001295308.1:n.-161G>A | |
| NM_015896.3:c.-161G>A | NP_056980.2:n.-161G>A | |
| XM_005265216.2:c.-289G>A | XP_005265273.1:n.-289G>A |