Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.28776594C>A , CM000683.2:g.28776594C>A | GRCh38 |
| NC_000021.8:g.30148916C>A , CM000683.1:g.30148916C>A | GRCh37 |
| NC_000021.7:g.29070787C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754830.1:n.934+45311G>T | ||
| XR_002958591.1:n.4507-4456G>T |