Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52245578G>C , CM000665.2:g.52245578G>C | GRCh38 |
| NC_000003.11:g.52279594G>C , CM000665.1:g.52279594G>C | GRCh37 |
| NC_000003.10:g.52254634G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679296.1:c.-270+1101C>G | ENSP00000504576.1:n.-270+1101C>G |