Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363172C= , CM000679.2:g.49363172C= | GRCh38 |
| NC_000017.10:g.47440534C= , CM000679.1:g.47440534C= | GRCh37 |
| NC_000017.9:g.44795533C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110882.1:n.136+655C= | ||
| NR_110883.1:n.31-1107C= | ||
| NR_110884.1:n.58-1107C= |