Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69854476A>G , CM000679.2:g.69854476A>G | GRCh38 |
| NC_000017.10:g.67850617A>G , CM000679.1:g.67850617A>G | GRCh37 |
| NC_000017.9:g.65362212A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109971.1:n.363+8990A>G | ||
| NR_109972.1:n.363+8990A>G |