Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58833371C>A , CM000682.2:g.58833371C>A | GRCh38 |
| NC_000020.10:g.57408426C>A , CM000682.1:g.57408426C>A | GRCh37 |
| NC_000020.9:g.56841821C>A | NCBI36 |
| NG_021433.1:g.22533G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002785.2:n.819+8566G>T |