Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32632222G>A , CM000668.2:g.32632222G>A | GRCh38 |
| NC_000006.11:g.32599999G>A , CM000668.1:g.32599999G>A | GRCh37 |
| NC_000006.10:g.32707977G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422863.1:c.-205+130G>A | ENSP00000405797.1:n.-205+130G>A |