Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46108512G>A , CM000684.2:g.46108512G>A | GRCh38 |
| NC_000022.10:g.46504392G>A , CM000684.1:g.46504392G>A | GRCh37 |
| NC_000022.9:g.44883056G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027033.2:n.373-755G>A | ||
| NR_110479.1:n.315-755G>A |