Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73763821C>A , CM000679.2:g.73763821C>A | GRCh38 |
| NC_000017.10:g.71759960C>A , CM000679.1:g.71759960C>A | GRCh37 |
| NC_000017.9:g.69271555C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027146.1:n.229-2795G>T |