Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57768302G>C , CM000674.2:g.57768302G>C | GRCh38 |
| NC_000012.11:g.58162085G>C , CM000674.1:g.58162085G>C | GRCh37 |
| NC_000012.10:g.56448352G>C | NCBI36 |
| NG_007076.1:g.3892C>G | |
| NG_047060.1:g.8830C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000546609.1:c.107+578C>G | |
| ENST00000546609.2:n.107+578C>G |