HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32164456G>A , CM000668.2:g.32164456G>A | GRCh38 |
NC_000006.11:g.32132233G>A , CM000668.1:g.32132233G>A | GRCh37 |
NC_000006.10:g.32240211G>A | NCBI36 |
NG_042283.1:g.16005G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000421600.2:c.225-123G>A | ||
ENST00000422437.5:c.766-123G>A | ENSP00000457534.1:n.766-123G>A | |
ENST00000428388.6:c.766-123G>A | ENSP00000455087.1:n.766-123G>A | |
ENST00000453656.6:n.897-123G>A | ||
ENST00000479001.2:n.751-123G>A | ||
ENST00000583227.5:c.*318-123G>A | ENSP00000461909.1:n.*318-123G>A | |
ENST00000585246.5:c.*318-1682G>A | ENSP00000463570.1:n.*318-1682G>A | |
NR_037861.1:n.1180-123G>A |