Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7779470T>C , CM000686.2:g.7779470T>C | GRCh38 |
| NC_000024.9:g.7647511T>C , CM000686.1:g.7647511T>C | GRCh37 |
| NC_000024.8:g.7707511T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.115-2766A>G | ||
| ENST00000652723.1:n.1027-2766A>G | ||
| ENST00000442584.2:n.219-2442A>G | ||
| XR_001756056.1:n.866A>G |