Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159484151C>A , CM000663.2:g.159484151C>A | GRCh38 |
| NC_000001.10:g.159453941C>A , CM000663.1:g.159453941C>A | GRCh37 |
| NC_000001.9:g.157720565C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922189.1:n.678+1167C>A | ||
| XR_922189.3:n.690+1167C>A |