Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516511C>A , CM000679.2:g.75516511C>A | GRCh38 |
| NC_000017.10:g.73512592C>A , CM000679.1:g.73512592C>A | GRCh37 |
| NC_000017.9:g.71024187C>A | NCBI36 |
| NG_013041.1:g.4984C>A | |
| NG_033152.1:g.4073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+125C>A | ENSP00000406559.4:n.-83+125C>A | |
| ENST00000679370.1:n.443+125C>A | ||
| ENST00000434205.7:c.-83+125C>A | ENSP00000406559.3:n.-83+125C>A | |
| XM_006721821.2:c.-248+125C>A | XP_006721884.1:n.-248+125C>A | |
| XM_005257229.4:c.-50C>A | XP_005257286.1:n.-50C>A |