HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926305C>T , CM000665.2:g.150926305C>T | GRCh38 |
NC_000003.11:g.150644092C>T , CM000665.1:g.150644092C>T | GRCh37 |
NC_000003.10:g.152126782C>T | NCBI36 |
NG_009168.1:g.51695G>A , LRG_700:g.51695G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*547G>A | ENSP00000295911.2:n.*547G>A | |
ENST00000562308.5:c.104+15277G>A | ||
ENST00000565169.1:c.162+15277G>A | ||
ENST00000569170.5:c.162+15277G>A | ||
NM_052995.2:c.*547G>A , LRG_700t2:c.*547G>A | NP_443721.1:n.*547G>A | |
XR_924167.1:n.2642G>A |