HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564884T>C , CM000682.2:g.35564884T>C | GRCh38 |
NC_000020.10:g.34152800T>C , CM000682.1:g.34152800T>C | GRCh37 |
NC_000020.9:g.33616214T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2008A>G | ||
ENST00000674470.1:n.1335A>G | ||
ENST00000611673.4:n.1029A>G | ||
ENST00000613061.4:n.1379A>G | ||
ENST00000615531.4:n.4544A>G | ||
ENST00000616711.4:n.1693A>G | ||
ENST00000621044.4:n.657A>G | ||
NR_119376.1:n.4556A>G |