Linked Data
dbSNP Id:
rs948837196
gnomAD v2:
17-80882856-G-A
gnomAD v3:
17-82924980-G-A
gnomAD v4:
17-82924980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82924980G>A , CM000679.2:g.82924980G>A | GRCh38 |
| NC_000017.10:g.80882856G>A , CM000679.1:g.80882856G>A | GRCh37 |
| NC_000017.9:g.78476145G>A | NCBI36 |
| NG_011721.1:g.177917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1510G>A | ||
| ENST00000576677.6:n.1431G>A | ||
| ENST00000681983.1:n.2438G>A | ||
| ENST00000682099.1:n.1199G>A | ||
| ENST00000682213.1:c.*273G>A | ENSP00000508166.1:n.*273G>A | |
| ENST00000682315.1:c.616G>A | ENSP00000507232.1:p.Glu206Lys | |
| ENST00000682479.1:c.2392G>A | ENSP00000508214.1:p.Glu798Lys | |
| ENST00000682610.1:n.1542G>A | ||
| ENST00000682654.1:c.*273G>A | ENSP00000507412.1:n.*273G>A | |
| ENST00000682722.1:c.2251G>A | ENSP00000508364.1:p.Glu751Lys | |
| ENST00000683041.1:c.*273G>A | ENSP00000506994.1:n.*273G>A | |
| ENST00000683184.1:c.*1955G>A | ENSP00000507757.1:n.*1955G>A | |
| ENST00000683282.1:c.2218G>A | ENSP00000506913.1:p.Glu740Lys | |
| ENST00000683444.1:c.*1879G>A | ENSP00000507553.1:n.*1879G>A | |
| ENST00000683584.1:n.1125G>A | ||
| ENST00000683821.1:c.616G>A | ENSP00000507651.1:p.Glu206Lys | |
| ENST00000683839.1:n.1756G>A | ||
| ENST00000684000.1:c.2386G>A | ENSP00000506795.1:p.Glu796Lys | |
| ENST00000684188.1:c.2113G>A | ENSP00000507153.1:p.Glu705Lys | |
| ENST00000684349.1:c.2488G>A | ENSP00000508067.1:p.Glu830Lys | |
| ENST00000684361.1:c.2302G>A | ENSP00000507364.1:p.Glu768Lys | |
| ENST00000684408.1:c.1945G>A | ENSP00000506837.1:p.Glu649Lys | |
| ENST00000684429.1:c.2230G>A | ENSP00000507224.1:p.Glu744Lys | |
| ENST00000684464.1:c.2395G>A | ENSP00000508333.1:p.Glu799Lys | |
| ENST00000684544.1:c.2221G>A | ENSP00000507337.1:p.Glu741Lys | |
| ENST00000684559.1:n.1057G>A | ||
| ENST00000684760.1:c.2569G>A | ENSP00000507696.1:p.Glu857Lys | |
| ENST00000684776.1:c.*785G>A | ENSP00000507861.1:n.*785G>A | |
| ENST00000355528.9:c.2302G>A MANE Select | ENSP00000347719.4:p.Glu768Lys | |
| ENST00000355528.8:c.2302G>A | ENSP00000347719.4:p.Glu768Lys | |
| ENST00000539345.6:c.2302G>A | ENSP00000440671.2:p.Glu768Lys | |
| ENST00000571618.5:n.480G>A | ||
| ENST00000571796.5:n.960G>A | ||
| ENST00000574422.1:c.616G>A | ENSP00000458599.1:p.Glu206Lys | |
| ENST00000574818.5:n.360G>A | ||
| ENST00000574886.1:n.686G>A | ||
| ENST00000574975.5:c.679G>A | ENSP00000461680.1:p.Glu227Lys | |
| ENST00000576760.5:c.616G>A | ENSP00000460949.1:p.Glu206Lys | |
| NM_005993.4:c.2302G>A | NP_005984.3:p.Glu768Lys | |
| XM_005256396.3:c.2251G>A | XP_005256453.1:p.Glu751Lys | |
| XM_005256399.3:c.1018G>A | XP_005256456.1:p.Glu340Lys | |
| XM_005256400.3:c.616G>A | XP_005256457.1:p.Glu206Lys | |
| XM_005256401.3:c.616G>A | XP_005256458.1:p.Glu206Lys | |
| XM_005256402.3:c.616G>A | XP_005256459.1:p.Glu206Lys | |
| XM_005256403.3:c.616G>A | XP_005256460.1:p.Glu206Lys | |
| XM_005256404.3:c.616G>A | XP_005256461.1:p.Glu206Lys | |
| XM_006722290.2:c.2221G>A | XP_006722353.1:p.Glu741Lys | |
| XM_006722291.2:c.1006G>A | XP_006722354.1:p.Glu336Lys | |
| XM_006722292.2:c.616G>A | XP_006722355.1:p.Glu206Lys | |
| XM_011523589.1:c.1957G>A | XP_011521891.1:p.Glu653Lys | |
| XM_011523590.1:c.1945G>A | XP_011521892.1:p.Glu649Lys | |
| XM_011523591.1:c.1942G>A | XP_011521893.1:p.Glu648Lys | |
| XM_011523592.1:c.1855G>A | XP_011521894.1:p.Glu619Lys | |
| XM_011523593.1:c.1549G>A | XP_011521895.1:p.Glu517Lys | |
| XM_011523594.1:c.1030G>A | XP_011521896.1:p.Glu344Lys | |
| XM_011523595.1:c.997G>A | XP_011521897.1:p.Glu333Lys | |
| XM_011523596.1:c.*33G>A | XP_011521898.1:n.*33G>A | |
| XM_011523597.1:c.763G>A | XP_011521899.1:p.Glu255Lys | |
| XM_011523598.1:c.760G>A | XP_011521900.1:p.Glu254Lys | |
| XM_011523599.1:c.754G>A | XP_011521901.1:p.Glu252Lys | |
| XM_011523600.1:c.616G>A | XP_011521902.1:p.Glu206Lys | |
| XR_430033.2:n.2410G>A | ||
| XM_005256396.4:c.2251G>A | XP_005256453.1:p.Glu751Lys | |
| XM_005256399.5:c.1018G>A | XP_005256456.1:p.Glu340Lys | |
| XM_005256404.4:c.616G>A | XP_005256461.1:p.Glu206Lys | |
| XM_006722291.4:c.1006G>A | XP_006722354.1:p.Glu336Lys | |
| XM_006722292.3:c.616G>A | XP_006722355.1:p.Glu206Lys | |
| XM_011523589.2:c.1957G>A | XP_011521891.1:p.Glu653Lys | |
| XM_011523591.2:c.1942G>A | XP_011521893.1:p.Glu648Lys | |
| XM_011523593.2:c.1549G>A | XP_011521895.1:p.Glu517Lys | |
| XM_011523594.2:c.1030G>A | XP_011521896.1:p.Glu344Lys | |
| XM_011523595.3:c.997G>A | XP_011521897.1:p.Glu333Lys | |
| XM_011523597.2:c.763G>A | XP_011521899.1:p.Glu255Lys | |
| XM_011523599.2:c.754G>A | XP_011521901.1:p.Glu252Lys | |
| XM_011523600.3:c.616G>A | XP_011521902.1:p.Glu206Lys | |
| XM_017024987.1:c.2113G>A | XP_016880476.1:p.Glu705Lys | |
| XM_017024989.1:c.664G>A | XP_016880478.1:p.Glu222Lys | |
| XM_017024990.2:c.616G>A | XP_016880479.1:p.Glu206Lys | |
| XM_024450899.1:c.616G>A | XP_024306667.1:p.Glu206Lys | |
| XM_024450900.1:c.616G>A | XP_024306668.1:p.Glu206Lys | |
| XM_024450901.1:c.616G>A | XP_024306669.1:p.Glu206Lys | |
| XM_024450902.1:c.616G>A | XP_024306670.1:p.Glu206Lys | |
| XR_001752597.1:n.2410G>A | ||
| XR_001752598.1:n.2410G>A | ||
| XR_001752599.1:n.2410G>A | ||
| XR_001752600.1:n.2328G>A | ||
| NM_005993.5:c.2302G>A MANE Select | NP_005984.3:p.Glu768Lys |