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