Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.22059270C>A , CM000682.2:g.22059270C>A | GRCh38 |
| NC_000020.10:g.22039908C>A , CM000682.1:g.22039908C>A | GRCh37 |
| NC_000020.9:g.21987908C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038394.1:n.195+4986C>A |