HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564885C>A , CM000682.2:g.35564885C>A | GRCh38 |
NC_000020.10:g.34152801C>A , CM000682.1:g.34152801C>A | GRCh37 |
NC_000020.9:g.33616215C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2007G>T | ||
ENST00000674470.1:n.1334G>T | ||
ENST00000611673.4:n.1028G>T | ||
ENST00000613061.4:n.1378G>T | ||
ENST00000615531.4:n.4543G>T | ||
ENST00000616711.4:n.1692G>T | ||
ENST00000621044.4:n.656G>T | ||
NR_119376.1:n.4555G>T |