Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016601C>G , CM000682.2:g.46016601C>G | GRCh38 |
| NC_000020.10:g.44645240C>G , CM000682.1:g.44645240C>G | GRCh37 |
| NC_000020.9:g.44078647C>G | NCBI36 |
| NG_011468.1:g.12694C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147699.1:n.669-1813G>C |