HGVS | Genome Assembly |
---|---|
NC_000022.11:g.23771357C>A , CM000684.2:g.23771357C>A | GRCh38 |
NC_000022.10:g.24113544C>A , CM000684.1:g.24113544C>A | GRCh37 |
NC_000022.9:g.22443544C>A | NCBI36 |
NG_029443.1:g.3509C>A | |
NG_034223.1:g.1616G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000465385.5:n.750+58C>A | ||
ENST00000477567.5:n.272+50C>A | ||
ENST00000489582.5:n.134+2564C>A | ||
XR_001755453.1:n.758+50C>A | ||
XR_001755454.1:n.750+58C>A |