Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363030A>C , CM000679.2:g.49363030A>C | GRCh38 |
| NC_000017.10:g.47440392A>C , CM000679.1:g.47440392A>C | GRCh37 |
| NC_000017.9:g.44795391A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110882.1:n.136+513A>C | ||
| NR_110883.1:n.31-1249A>C | ||
| NR_110884.1:n.58-1249A>C |