Linked Data
dbSNP Id:
rs773297162
ExAC:
17:80882857 A / G
gnomAD v2:
17-80882857-A-G
gnomAD v3:
17-82924981-A-G
gnomAD v4:
17-82924981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82924981A>G , CM000679.2:g.82924981A>G | GRCh38 |
| NC_000017.10:g.80882857A>G , CM000679.1:g.80882857A>G | GRCh37 |
| NC_000017.9:g.78476146A>G | NCBI36 |
| NG_011721.1:g.177918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1511A>G | ||
| ENST00000576677.6:n.1432A>G | ||
| ENST00000681983.1:n.2439A>G | ||
| ENST00000682099.1:n.1200A>G | ||
| ENST00000682213.1:c.*274A>G | ENSP00000508166.1:n.*274A>G | |
| ENST00000682315.1:c.617A>G | ENSP00000507232.1:p.Glu206Gly | |
| ENST00000682479.1:c.2393A>G | ENSP00000508214.1:p.Glu798Gly | |
| ENST00000682610.1:n.1543A>G | ||
| ENST00000682654.1:c.*274A>G | ENSP00000507412.1:n.*274A>G | |
| ENST00000682722.1:c.2252A>G | ENSP00000508364.1:p.Glu751Gly | |
| ENST00000683041.1:c.*274A>G | ENSP00000506994.1:n.*274A>G | |
| ENST00000683184.1:c.*1956A>G | ENSP00000507757.1:n.*1956A>G | |
| ENST00000683282.1:c.2219A>G | ENSP00000506913.1:p.Glu740Gly | |
| ENST00000683444.1:c.*1880A>G | ENSP00000507553.1:n.*1880A>G | |
| ENST00000683584.1:n.1126A>G | ||
| ENST00000683821.1:c.617A>G | ENSP00000507651.1:p.Glu206Gly | |
| ENST00000683839.1:n.1757A>G | ||
| ENST00000684000.1:c.2387A>G | ENSP00000506795.1:p.Glu796Gly | |
| ENST00000684188.1:c.2114A>G | ENSP00000507153.1:p.Glu705Gly | |
| ENST00000684349.1:c.2489A>G | ENSP00000508067.1:p.Glu830Gly | |
| ENST00000684361.1:c.2303A>G | ENSP00000507364.1:p.Glu768Gly | |
| ENST00000684408.1:c.1946A>G | ENSP00000506837.1:p.Glu649Gly | |
| ENST00000684429.1:c.2231A>G | ENSP00000507224.1:p.Glu744Gly | |
| ENST00000684464.1:c.2396A>G | ENSP00000508333.1:p.Glu799Gly | |
| ENST00000684544.1:c.2222A>G | ENSP00000507337.1:p.Glu741Gly | |
| ENST00000684559.1:n.1058A>G | ||
| ENST00000684760.1:c.2570A>G | ENSP00000507696.1:p.Glu857Gly | |
| ENST00000684776.1:c.*786A>G | ENSP00000507861.1:n.*786A>G | |
| ENST00000355528.9:c.2303A>G MANE Select | ENSP00000347719.4:p.Glu768Gly | |
| ENST00000355528.8:c.2303A>G | ENSP00000347719.4:p.Glu768Gly | |
| ENST00000539345.6:c.2303A>G | ENSP00000440671.2:p.Glu768Gly | |
| ENST00000571618.5:n.481A>G | ||
| ENST00000571796.5:n.961A>G | ||
| ENST00000574422.1:c.617A>G | ENSP00000458599.1:p.Glu206Gly | |
| ENST00000574818.5:n.361A>G | ||
| ENST00000574886.1:n.687A>G | ||
| ENST00000574975.5:c.680A>G | ENSP00000461680.1:p.Glu227Gly | |
| ENST00000576760.5:c.617A>G | ENSP00000460949.1:p.Glu206Gly | |
| NM_005993.4:c.2303A>G | NP_005984.3:p.Glu768Gly | |
| XM_005256396.3:c.2252A>G | XP_005256453.1:p.Glu751Gly | |
| XM_005256399.3:c.1019A>G | XP_005256456.1:p.Glu340Gly | |
| XM_005256400.3:c.617A>G | XP_005256457.1:p.Glu206Gly | |
| XM_005256401.3:c.617A>G | XP_005256458.1:p.Glu206Gly | |
| XM_005256402.3:c.617A>G | XP_005256459.1:p.Glu206Gly | |
| XM_005256403.3:c.617A>G | XP_005256460.1:p.Glu206Gly | |
| XM_005256404.3:c.617A>G | XP_005256461.1:p.Glu206Gly | |
| XM_006722290.2:c.2222A>G | XP_006722353.1:p.Glu741Gly | |
| XM_006722291.2:c.1007A>G | XP_006722354.1:p.Glu336Gly | |
| XM_006722292.2:c.617A>G | XP_006722355.1:p.Glu206Gly | |
| XM_011523589.1:c.1958A>G | XP_011521891.1:p.Glu653Gly | |
| XM_011523590.1:c.1946A>G | XP_011521892.1:p.Glu649Gly | |
| XM_011523591.1:c.1943A>G | XP_011521893.1:p.Glu648Gly | |
| XM_011523592.1:c.1856A>G | XP_011521894.1:p.Glu619Gly | |
| XM_011523593.1:c.1550A>G | XP_011521895.1:p.Glu517Gly | |
| XM_011523594.1:c.1031A>G | XP_011521896.1:p.Glu344Gly | |
| XM_011523595.1:c.998A>G | XP_011521897.1:p.Glu333Gly | |
| XM_011523596.1:c.*34A>G | XP_011521898.1:n.*34A>G | |
| XM_011523597.1:c.764A>G | XP_011521899.1:p.Glu255Gly | |
| XM_011523598.1:c.761A>G | XP_011521900.1:p.Glu254Gly | |
| XM_011523599.1:c.755A>G | XP_011521901.1:p.Glu252Gly | |
| XM_011523600.1:c.617A>G | XP_011521902.1:p.Glu206Gly | |
| XR_430033.2:n.2411A>G | ||
| XM_005256396.4:c.2252A>G | XP_005256453.1:p.Glu751Gly | |
| XM_005256399.5:c.1019A>G | XP_005256456.1:p.Glu340Gly | |
| XM_005256404.4:c.617A>G | XP_005256461.1:p.Glu206Gly | |
| XM_006722291.4:c.1007A>G | XP_006722354.1:p.Glu336Gly | |
| XM_006722292.3:c.617A>G | XP_006722355.1:p.Glu206Gly | |
| XM_011523589.2:c.1958A>G | XP_011521891.1:p.Glu653Gly | |
| XM_011523591.2:c.1943A>G | XP_011521893.1:p.Glu648Gly | |
| XM_011523593.2:c.1550A>G | XP_011521895.1:p.Glu517Gly | |
| XM_011523594.2:c.1031A>G | XP_011521896.1:p.Glu344Gly | |
| XM_011523595.3:c.998A>G | XP_011521897.1:p.Glu333Gly | |
| XM_011523597.2:c.764A>G | XP_011521899.1:p.Glu255Gly | |
| XM_011523599.2:c.755A>G | XP_011521901.1:p.Glu252Gly | |
| XM_011523600.3:c.617A>G | XP_011521902.1:p.Glu206Gly | |
| XM_017024987.1:c.2114A>G | XP_016880476.1:p.Glu705Gly | |
| XM_017024989.1:c.665A>G | XP_016880478.1:p.Glu222Gly | |
| XM_017024990.2:c.617A>G | XP_016880479.1:p.Glu206Gly | |
| XM_024450899.1:c.617A>G | XP_024306667.1:p.Glu206Gly | |
| XM_024450900.1:c.617A>G | XP_024306668.1:p.Glu206Gly | |
| XM_024450901.1:c.617A>G | XP_024306669.1:p.Glu206Gly | |
| XM_024450902.1:c.617A>G | XP_024306670.1:p.Glu206Gly | |
| XR_001752597.1:n.2411A>G | ||
| XR_001752598.1:n.2411A>G | ||
| XR_001752599.1:n.2411A>G | ||
| XR_001752600.1:n.2329A>G | ||
| NM_005993.5:c.2303A>G MANE Select | NP_005984.3:p.Glu768Gly |