Linked Data
ClinVar Variation Id:
2258186
dbSNP Id:
rs761476887
ExAC:
17:80882923 G / A
gnomAD v2:
17-80882923-G-A
gnomAD v3:
17-82925047-G-A
gnomAD v4:
17-82925047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925047G>A , CM000679.2:g.82925047G>A | GRCh38 |
| NC_000017.10:g.80882923G>A , CM000679.1:g.80882923G>A | GRCh37 |
| NC_000017.9:g.78476212G>A | NCBI36 |
| NG_011721.1:g.177984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1577G>A | ||
| ENST00000576677.6:n.1498G>A | ||
| ENST00000681983.1:n.2505G>A | ||
| ENST00000682099.1:n.1266G>A | ||
| ENST00000682213.1:c.*340G>A | ENSP00000508166.1:n.*340G>A | |
| ENST00000682315.1:c.683G>A | ENSP00000507232.1:p.Arg228Gln | |
| ENST00000682479.1:c.2459G>A | ENSP00000508214.1:p.Arg820Gln | |
| ENST00000682610.1:n.1609G>A | ||
| ENST00000682654.1:c.*340G>A | ENSP00000507412.1:n.*340G>A | |
| ENST00000682722.1:c.2318G>A | ENSP00000508364.1:p.Arg773Gln | |
| ENST00000683041.1:c.*340G>A | ENSP00000506994.1:n.*340G>A | |
| ENST00000683184.1:c.*2022G>A | ENSP00000507757.1:n.*2022G>A | |
| ENST00000683282.1:c.2285G>A | ENSP00000506913.1:p.Arg762Gln | |
| ENST00000683444.1:c.*1946G>A | ENSP00000507553.1:n.*1946G>A | |
| ENST00000683584.1:n.1192G>A | ||
| ENST00000683821.1:c.683G>A | ENSP00000507651.1:p.Arg228Gln | |
| ENST00000683839.1:n.1823G>A | ||
| ENST00000684000.1:c.2453G>A | ENSP00000506795.1:p.Arg818Gln | |
| ENST00000684188.1:c.2180G>A | ENSP00000507153.1:p.Arg727Gln | |
| ENST00000684349.1:c.2555G>A | ENSP00000508067.1:p.Arg852Gln | |
| ENST00000684361.1:c.2369G>A | ENSP00000507364.1:p.Arg790Gln | |
| ENST00000684408.1:c.2012G>A | ENSP00000506837.1:p.Arg671Gln | |
| ENST00000684429.1:c.2297G>A | ENSP00000507224.1:p.Arg766Gln | |
| ENST00000684464.1:c.2462G>A | ENSP00000508333.1:p.Arg821Gln | |
| ENST00000684544.1:c.2288G>A | ENSP00000507337.1:p.Arg763Gln | |
| ENST00000684559.1:n.1124G>A | ||
| ENST00000684760.1:c.2636G>A | ENSP00000507696.1:p.Arg879Gln | |
| ENST00000684776.1:c.*852G>A | ENSP00000507861.1:n.*852G>A | |
| ENST00000355528.9:c.2369G>A MANE Select | ENSP00000347719.4:p.Arg790Gln | |
| ENST00000355528.8:c.2369G>A | ENSP00000347719.4:p.Arg790Gln | |
| ENST00000539345.6:c.2369G>A | ENSP00000440671.2:p.Arg790Gln | |
| ENST00000571618.5:n.547G>A | ||
| ENST00000571796.5:n.1027G>A | ||
| ENST00000574422.1:c.683G>A | ENSP00000458599.1:p.Arg228Gln | |
| ENST00000574818.5:n.427G>A | ||
| ENST00000574886.1:n.753G>A | ||
| ENST00000574975.5:c.746G>A | ENSP00000461680.1:p.Arg249Gln | |
| ENST00000576760.5:c.683G>A | ENSP00000460949.1:p.Arg228Gln | |
| NM_005993.4:c.2369G>A | NP_005984.3:p.Arg790Gln | |
| XM_005256396.3:c.2318G>A | XP_005256453.1:p.Arg773Gln | |
| XM_005256399.3:c.1085G>A | XP_005256456.1:p.Arg362Gln | |
| XM_005256400.3:c.683G>A | XP_005256457.1:p.Arg228Gln | |
| XM_005256401.3:c.683G>A | XP_005256458.1:p.Arg228Gln | |
| XM_005256402.3:c.683G>A | XP_005256459.1:p.Arg228Gln | |
| XM_005256403.3:c.683G>A | XP_005256460.1:p.Arg228Gln | |
| XM_005256404.3:c.683G>A | XP_005256461.1:p.Arg228Gln | |
| XM_006722290.2:c.2288G>A | XP_006722353.1:p.Arg763Gln | |
| XM_006722291.2:c.1073G>A | XP_006722354.1:p.Arg358Gln | |
| XM_006722292.2:c.683G>A | XP_006722355.1:p.Arg228Gln | |
| XM_011523589.1:c.2024G>A | XP_011521891.1:p.Arg675Gln | |
| XM_011523590.1:c.2012G>A | XP_011521892.1:p.Arg671Gln | |
| XM_011523591.1:c.2009G>A | XP_011521893.1:p.Arg670Gln | |
| XM_011523592.1:c.1922G>A | XP_011521894.1:p.Arg641Gln | |
| XM_011523593.1:c.1616G>A | XP_011521895.1:p.Arg539Gln | |
| XM_011523594.1:c.1097G>A | XP_011521896.1:p.Arg366Gln | |
| XM_011523595.1:c.1064G>A | XP_011521897.1:p.Arg355Gln | |
| XM_011523597.1:c.830G>A | XP_011521899.1:p.Arg277Gln | |
| XM_011523598.1:c.827G>A | XP_011521900.1:p.Arg276Gln | |
| XM_011523599.1:c.821G>A | XP_011521901.1:p.Arg274Gln | |
| XM_011523600.1:c.683G>A | XP_011521902.1:p.Arg228Gln | |
| XR_430033.2:n.2477G>A | ||
| XM_005256396.4:c.2318G>A | XP_005256453.1:p.Arg773Gln | |
| XM_005256399.5:c.1085G>A | XP_005256456.1:p.Arg362Gln | |
| XM_005256404.4:c.683G>A | XP_005256461.1:p.Arg228Gln | |
| XM_006722291.4:c.1073G>A | XP_006722354.1:p.Arg358Gln | |
| XM_006722292.3:c.683G>A | XP_006722355.1:p.Arg228Gln | |
| XM_011523589.2:c.2024G>A | XP_011521891.1:p.Arg675Gln | |
| XM_011523591.2:c.2009G>A | XP_011521893.1:p.Arg670Gln | |
| XM_011523593.2:c.1616G>A | XP_011521895.1:p.Arg539Gln | |
| XM_011523594.2:c.1097G>A | XP_011521896.1:p.Arg366Gln | |
| XM_011523595.3:c.1064G>A | XP_011521897.1:p.Arg355Gln | |
| XM_011523597.2:c.830G>A | XP_011521899.1:p.Arg277Gln | |
| XM_011523599.2:c.821G>A | XP_011521901.1:p.Arg274Gln | |
| XM_011523600.3:c.683G>A | XP_011521902.1:p.Arg228Gln | |
| XM_017024987.1:c.2180G>A | XP_016880476.1:p.Arg727Gln | |
| XM_017024989.1:c.731G>A | XP_016880478.1:p.Arg244Gln | |
| XM_017024990.2:c.683G>A | XP_016880479.1:p.Arg228Gln | |
| XM_024450899.1:c.683G>A | XP_024306667.1:p.Arg228Gln | |
| XM_024450900.1:c.683G>A | XP_024306668.1:p.Arg228Gln | |
| XM_024450901.1:c.683G>A | XP_024306669.1:p.Arg228Gln | |
| XM_024450902.1:c.683G>A | XP_024306670.1:p.Arg228Gln | |
| XR_001752597.1:n.2477G>A | ||
| XR_001752598.1:n.2477G>A | ||
| XR_001752599.1:n.2477G>A | ||
| XR_001752600.1:n.2395G>A | ||
| NM_005993.5:c.2369G>A MANE Select | NP_005984.3:p.Arg790Gln |