Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7779274C>G , CM000686.2:g.7779274C>G | GRCh38 |
| NC_000024.9:g.7647315C>G , CM000686.1:g.7647315C>G | GRCh37 |
| NC_000024.8:g.7707315C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-2570G>C | ||
| ENST00000652723.1:n.1027-2570G>C | ||
| ENST00000442584.2:n.219-2246G>C |