Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363050T>C , CM000679.2:g.49363050T>C | GRCh38 |
| NC_000017.10:g.47440412T>C , CM000679.1:g.47440412T>C | GRCh37 |
| NC_000017.9:g.44795411T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110882.1:n.136+533T>C | ||
| NR_110883.1:n.31-1229T>C | ||
| NR_110884.1:n.58-1229T>C |