HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564788G>C , CM000682.2:g.35564788G>C | GRCh38 |
NC_000020.10:g.34152704G>C , CM000682.1:g.34152704G>C | GRCh37 |
NC_000020.9:g.33616118G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2104C>G | ||
ENST00000674470.1:n.1431C>G | ||
ENST00000611673.4:n.1125C>G | ||
ENST00000613061.4:n.1475C>G | ||
ENST00000615531.4:n.4640C>G | ||
ENST00000616711.4:n.1789C>G | ||
ENST00000621044.4:n.753C>G | ||
NR_119376.1:n.4652C>G |