HGVS | Genome Assembly |
---|---|
NC_000005.10:g.145585792T>C , CM000667.2:g.145585792T>C | GRCh38 |
NC_000005.9:g.144965355T>C , CM000667.1:g.144965355T>C | GRCh37 |
NC_000005.8:g.144945548T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000510259.5:n.71-112477A>G | ||
XR_944308.1:n.662+179139A>G |