Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46108417A>C , CM000684.2:g.46108417A>C | GRCh38 |
| NC_000022.10:g.46504297A>C , CM000684.1:g.46504297A>C | GRCh37 |
| NC_000022.9:g.44882961A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027033.2:n.373-850A>C | ||
| NR_110479.1:n.315-850A>C |