Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25571713A>G , CM000683.2:g.25571713A>G | GRCh38 |
| NC_000021.8:g.26944025A>G , CM000683.1:g.26944025A>G | GRCh37 |
| NC_000021.7:g.25865896A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001458.3:n.198+1792A>G |