HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926232C>G , CM000665.2:g.150926232C>G | GRCh38 |
NC_000003.11:g.150644019C>G , CM000665.1:g.150644019C>G | GRCh37 |
NC_000003.10:g.152126709C>G | NCBI36 |
NG_009168.1:g.51768G>C , LRG_700:g.51768G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*620G>C | ENSP00000295911.2:n.*620G>C | |
ENST00000562308.5:c.104+15350G>C | ||
ENST00000565169.1:c.162+15350G>C | ||
ENST00000569170.5:c.162+15350G>C | ||
NM_052995.2:c.*620G>C , LRG_700t2:c.*620G>C | NP_443721.1:n.*620G>C | |
XR_924167.1:n.2715G>C |