Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94062432G>A , CM000669.2:g.94062432G>A | GRCh38 |
| NC_000007.13:g.93691744G>A , CM000669.1:g.93691744G>A | GRCh37 |
| NC_000007.12:g.93529680G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001745270.2:n.3291+568G>A | |
| XR_001745271.2:n.3291+568G>A |