HGVS | Genome Assembly |
---|---|
NC_000005.10:g.145585847C>A , CM000667.2:g.145585847C>A | GRCh38 |
NC_000005.9:g.144965410C>A , CM000667.1:g.144965410C>A | GRCh37 |
NC_000005.8:g.144945603C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000510259.5:n.71-112532G>T | ||
XR_944308.1:n.662+179084G>T |