Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4631231G>C , CM000682.2:g.4631231G>C | GRCh38 |
| NC_000020.10:g.4611877G>C , CM000682.1:g.4611877G>C | GRCh37 |
| NC_000020.9:g.4559877G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652447.1:n.88-1010C>G |