Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81901505G>A , CM000677.2:g.81901505G>A | GRCh38 |
| NC_000015.9:g.82193846G>A , CM000677.1:g.82193846G>A | GRCh37 |
| NC_000015.8:g.79980901G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001751639.1:n.734+13842C>T | ||
| XR_001751640.1:n.623+24168C>T |