HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132060639C>T , CM000667.2:g.132060639C>T | GRCh38 |
NC_000005.9:g.131396332C>T , CM000667.1:g.131396332C>T | GRCh37 |
NC_000005.8:g.131424231C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296870.2:c.-68C>T | ENSP00000296870.2:n.-68C>T | |
XR_948784.1:n.228+832G>A | ||
XR_948785.1:n.228+832G>A | ||
XR_948786.1:n.211+832G>A | ||
XR_001742531.1:n.243+832G>A | ||
XR_948784.2:n.251+832G>A | ||
XR_948785.2:n.251+832G>A |