Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7725919C>A , CM000686.2:g.7725919C>A | GRCh38 |
| NC_000024.9:g.7593960C>A , CM000686.1:g.7593960C>A | GRCh37 |
| NC_000024.8:g.7653960C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-12822G>T | ||
| ENST00000455527.5:n.680+3538G>T |