Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.39216834A>G , CM000682.2:g.39216834A>G | GRCh38 |
| NC_000020.10:g.37845477A>G , CM000682.1:g.37845477A>G | GRCh37 |
| NC_000020.9:g.37278891A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_027124.1:n.195-722T>C | |
| XR_001754587.1:n.148-2753A>G |