Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69854601T>G , CM000679.2:g.69854601T>G | GRCh38 |
| NC_000017.10:g.67850742T>G , CM000679.1:g.67850742T>G | GRCh37 |
| NC_000017.9:g.65362337T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109971.1:n.363+9115T>G | ||
| NR_109972.1:n.363+9115T>G |