Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12312119G>C , CM000686.2:g.12312119G>C | GRCh38 |
| NC_000024.9:g.14432846G>C , CM000686.1:g.14432846G>C | GRCh37 |
| NC_000024.8:g.12942854G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651802.1:n.451-70711C>G | ||
| ENST00000651835.1:n.320-54088C>G |