HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35564787T>G , CM000682.2:g.35564787T>G | GRCh38 |
NC_000020.10:g.34152703T>G , CM000682.1:g.34152703T>G | GRCh37 |
NC_000020.9:g.33616117T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674340.1:n.2105A>C | ||
ENST00000674470.1:n.1432A>C | ||
ENST00000611673.4:n.1126A>C | ||
ENST00000613061.4:n.1476A>C | ||
ENST00000615531.4:n.4641A>C | ||
ENST00000616711.4:n.1790A>C | ||
ENST00000621044.4:n.754A>C | ||
NR_119376.1:n.4653A>C |