Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10869816G>C , CM000682.2:g.10869816G>C | GRCh38 |
| NC_000020.10:g.10850464G>C , CM000682.1:g.10850464G>C | GRCh37 |
| NC_000020.9:g.10798464G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_937255.1:n.2829+2509G>C |