HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110668911C>T , CM000663.2:g.110668911C>T | GRCh38 |
NC_000001.10:g.111211533C>T , CM000663.1:g.111211533C>T | GRCh37 |
NC_000001.9:g.111013056C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000685980.2:c.*1607-567G>A | ENSP00000513296.1:n.*1607-567G>A | |
ENST00000697409.1:c.*1607-570G>A | ENSP00000513297.1:n.*1607-570G>A | |
ENST00000697410.1:c.*1667-567G>A | ENSP00000513298.1:n.*1667-567G>A | |
ENST00000697411.1:c.1574-567G>A | ENSP00000513299.1:n.1574-567G>A | |
ENST00000697412.1:c.*1607-567G>A | ENSP00000513300.1:n.*1607-567G>A | |
NR_109845.1:n.219-567G>A | ||
NR_109846.1:n.301-570G>A | ||
XR_001738182.1:n.569-17463C>T | ||
XR_001738183.1:n.567-17463C>T | ||
XR_001738184.1:n.573-17463C>T | ||
XR_001738185.1:n.568-17463C>T | ||
XR_001738186.1:n.572-17463C>T | ||
XR_001738187.1:n.570-17463C>T | ||
NR_109845.2:n.219-567G>A |