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