HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926444T>A , CM000665.2:g.150926444T>A | GRCh38 |
NC_000003.11:g.150644231T>A , CM000665.1:g.150644231T>A | GRCh37 |
NC_000003.10:g.152126921T>A | NCBI36 |
NG_009168.1:g.51556A>T , LRG_700:g.51556A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*408A>T | ENSP00000295911.2:n.*408A>T | |
ENST00000562308.5:c.104+15138A>T | ||
ENST00000565169.1:c.162+15138A>T | ||
ENST00000569170.5:c.162+15138A>T | ||
NM_052995.2:c.*408A>T , LRG_700t2:c.*408A>T | NP_443721.1:n.*408A>T | |
XR_924167.1:n.2503A>T |