Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7779281C>A , CM000686.2:g.7779281C>A | GRCh38 |
| NC_000024.9:g.7647322C>A , CM000686.1:g.7647322C>A | GRCh37 |
| NC_000024.8:g.7707322C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-2577G>T | ||
| ENST00000652723.1:n.1027-2577G>T | ||
| ENST00000442584.2:n.219-2253G>T |