HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926508C>A , CM000665.2:g.150926508C>A | GRCh38 |
NC_000003.11:g.150644295C>A , CM000665.1:g.150644295C>A | GRCh37 |
NC_000003.10:g.152126985C>A | NCBI36 |
NG_009168.1:g.51492G>T , LRG_700:g.51492G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*344G>T | ENSP00000295911.2:n.*344G>T | |
ENST00000562308.5:c.104+15074G>T | ||
ENST00000565169.1:c.162+15074G>T | ||
ENST00000569170.5:c.162+15074G>T | ||
NM_052995.2:c.*344G>T , LRG_700t2:c.*344G>T | NP_443721.1:n.*344G>T | |
XR_924167.1:n.2439G>T |