Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.22180454A>G , CM000679.2:g.22180454A>G | GRCh38 |
| NC_000017.10:g.21707060A>G , CM000679.1:g.21707060A>G | GRCh37 |
| NC_000017.9:g.21631187A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648259.1:n.167-1085A>G | |
| ENST00000688301.1:n.158-23633A>G |