HGVS | Genome Assembly |
---|---|
NC_000024.10:g.7779217T>C , CM000686.2:g.7779217T>C | GRCh38 |
NC_000024.9:g.7647258T>C , CM000686.1:g.7647258T>C | GRCh37 |
NC_000024.8:g.7707258T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651261.1:n.115-2513A>G | ||
ENST00000652723.1:n.1027-2513A>G | ||
ENST00000442584.2:n.219-2189A>G |