Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.73492774G>A , CM000675.2:g.73492774G>A | GRCh38 |
| NC_000013.10:g.74066911G>A , CM000675.1:g.74066911G>A | GRCh37 |
| NC_000013.9:g.72964912G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942061.1:n.379-35812C>T |