HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926374T>C , CM000665.2:g.150926374T>C | GRCh38 |
NC_000003.11:g.150644161T>C , CM000665.1:g.150644161T>C | GRCh37 |
NC_000003.10:g.152126851T>C | NCBI36 |
NG_009168.1:g.51626A>G , LRG_700:g.51626A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*478A>G | ENSP00000295911.2:n.*478A>G | |
ENST00000562308.5:c.104+15208A>G | ||
ENST00000565169.1:c.162+15208A>G | ||
ENST00000569170.5:c.162+15208A>G | ||
NM_052995.2:c.*478A>G , LRG_700t2:c.*478A>G | NP_443721.1:n.*478A>G | |
XR_924167.1:n.2573A>G |