HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564783G>T , CM000682.2:g.35564783G>T | GRCh38 |
NC_000020.10:g.34152699G>T , CM000682.1:g.34152699G>T | GRCh37 |
NC_000020.9:g.33616113G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2109C>A | ||
ENST00000674470.1:n.1436C>A | ||
ENST00000611673.4:n.1130C>A | ||
ENST00000613061.4:n.1480C>A | ||
ENST00000615531.4:n.4645C>A | ||
ENST00000616711.4:n.1794C>A | ||
ENST00000621044.4:n.758C>A | ||
NR_119376.1:n.4657C>A |