Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23896636G>A , CM000684.2:g.23896636G>A | GRCh38 |
| NC_000022.10:g.24238823G>A , CM000684.1:g.24238823G>A | GRCh37 |
| NC_000022.9:g.22568823G>A | NCBI36 |
| NG_012099.1:g.7259G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038911.1:n.88-526C>T |