Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46212200G>A , CM000665.2:g.46212200G>A | GRCh38 |
| NC_000003.11:g.46253691G>A , CM000665.1:g.46253691G>A | GRCh37 |
| NC_000003.10:g.46228695G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357422.2:c.-68+1293G>A | ENSP00000350003.2:n.-68+1293G>A | |
| XM_006712960.2:c.-68+1293G>A | XP_006713023.1:n.-68+1293G>A | |
| XM_011533334.1:c.-155+1293G>A | XP_011531636.1:n.-155+1293G>A | |
| XM_011533335.1:c.-149+1293G>A | XP_011531637.1:n.-149+1293G>A | |
| XM_006712960.3:c.-68+1293G>A | XP_006713023.1:n.-68+1293G>A | |
| XM_011533335.2:c.-149+1293G>A | XP_011531637.1:n.-149+1293G>A | |
| XM_017005686.1:c.-966+1293G>A | XP_016861175.1:n.-966+1293G>A |