HGVS | Genome Assembly |
---|---|
NC_000005.10:g.145585811T>G , CM000667.2:g.145585811T>G | GRCh38 |
NC_000005.9:g.144965374T>G , CM000667.1:g.144965374T>G | GRCh37 |
NC_000005.8:g.144945567T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000510259.5:n.71-112496A>C | ||
XR_944308.1:n.662+179120A>C |