HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926161C>A , CM000665.2:g.150926161C>A | GRCh38 |
NC_000003.11:g.150643948C>A , CM000665.1:g.150643948C>A | GRCh37 |
NC_000003.10:g.152126638C>A | NCBI36 |
NG_009168.1:g.51839G>T , LRG_700:g.51839G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000562308.5:c.104+15421G>T | ||
ENST00000565169.1:c.162+15421G>T | ||
ENST00000569170.5:c.162+15421G>T | ||
XR_924167.1:n.2786G>T |