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