HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564780T>G , CM000682.2:g.35564780T>G | GRCh38 |
NC_000020.10:g.34152696T>G , CM000682.1:g.34152696T>G | GRCh37 |
NC_000020.9:g.33616110T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2112A>C | ||
ENST00000674470.1:n.1439A>C | ||
ENST00000611673.4:n.1133A>C | ||
ENST00000613061.4:n.1483A>C | ||
ENST00000615531.4:n.4648A>C | ||
ENST00000616711.4:n.1797A>C | ||
ENST00000621044.4:n.761A>C | ||
NR_119376.1:n.4660A>C |