HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564887C>T , CM000682.2:g.35564887C>T | GRCh38 |
NC_000020.10:g.34152803C>T , CM000682.1:g.34152803C>T | GRCh37 |
NC_000020.9:g.33616217C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2005G>A | ||
ENST00000674470.1:n.1332G>A | ||
ENST00000611673.4:n.1026G>A | ||
ENST00000613061.4:n.1376G>A | ||
ENST00000615531.4:n.4541G>A | ||
ENST00000616711.4:n.1690G>A | ||
ENST00000621044.4:n.654G>A | ||
NR_119376.1:n.4553G>A |