Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7786312G>A , CM000686.2:g.7786312G>A | GRCh38 |
| NC_000024.9:g.7654353G>A , CM000686.1:g.7654353G>A | GRCh37 |
| NC_000024.8:g.7714353G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.115-9608C>T | ||
| ENST00000652723.1:n.1027-9608C>T | ||
| ENST00000442584.2:n.219-9284C>T | ||
| XR_001756056.1:n.822-6798C>T |