Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.102129717G>A , CM000665.2:g.102129717G>A | GRCh38 |
| NC_000003.11:g.101848561G>A , CM000665.1:g.101848561G>A | GRCh37 |
| NC_000003.10:g.103331251G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000491959.5:c.-779+28146G>A | ENSP00000420265.1:n.-779+28146G>A |