HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564888A>C , CM000682.2:g.35564888A>C | GRCh38 |
NC_000020.10:g.34152804A>C , CM000682.1:g.34152804A>C | GRCh37 |
NC_000020.9:g.33616218A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2004T>G | ||
ENST00000674470.1:n.1331T>G | ||
ENST00000611673.4:n.1025T>G | ||
ENST00000613061.4:n.1375T>G | ||
ENST00000615531.4:n.4540T>G | ||
ENST00000616711.4:n.1689T>G | ||
ENST00000621044.4:n.653T>G | ||
NR_119376.1:n.4552T>G |