Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.28776792G>T , CM000683.2:g.28776792G>T | GRCh38 |
| NC_000021.8:g.30149114G>T , CM000683.1:g.30149114G>T | GRCh37 |
| NC_000021.7:g.29070985G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754830.1:n.934+45113C>A | ||
| XR_002958591.1:n.4507-4654C>A |