Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15572837T>G , CM000686.2:g.15572837T>G | GRCh38 |
| NC_000024.9:g.17684717T>G , CM000686.1:g.17684717T>G | GRCh37 |
| NC_000024.8:g.16194111T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.1050+5909T>G |