Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198898424C>A , CM000663.2:g.198898424C>A | GRCh38 |
| NC_000001.10:g.198867553C>A , CM000663.1:g.198867553C>A | GRCh37 |
| NC_000001.9:g.197134176C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040073.1:n.363+1987G>T |