Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27559284G>A , CM000670.2:g.27559284G>A | GRCh38 |
| NC_000008.10:g.27416801G>A , CM000670.1:g.27416801G>A | GRCh37 |
| NC_000008.9:g.27472718G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001745491.1:n.1647+15040G>A |