Linked Data
ClinVar Variation Id:
383748
ClinVar RCV Id:
RCV000443683
dbSNP Id:
rs1057521725
gnomAD v4:
16-7579859-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.7579859G>A , CM000678.2:g.7579859G>A | GRCh38 |
| NC_000016.9:g.7629861G>A , CM000678.1:g.7629861G>A | GRCh37 |
| NC_000016.8:g.7569862G>A | NCBI36 |
| NG_011881.1:g.1565730G>A | |
| NG_011881.2:g.2345108G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000705321.1:c.293G>A | ENSP00000516112.1:p.Arg98Gln | |
| ENST00000355637.9:c.413G>A MANE Plus Clinical | ENSP00000347855.4:p.Arg138Gln | |
| ENST00000570626.2:c.356G>A | ENSP00000458748.2:p.Arg119Gln | |
| ENST00000682918.1:c.359G>A | ENSP00000507921.1:p.Arg120Gln | |
| ENST00000683326.1:c.359G>A | ENSP00000507562.1:p.Arg120Gln | |
| ENST00000550418.6:c.353G>A MANE Select | ENSP00000450031.1:p.Arg118Gln | |
| ENST00000641259.1:c.830G>A | ENSP00000493041.1:p.Arg277Gln | |
| ENST00000674626.1:c.293G>A | ENSP00000502217.1:p.Arg98Gln | |
| ENST00000674792.1:c.293G>A | ENSP00000502682.1:p.Arg98Gln | |
| ENST00000675459.1:c.353G>A | ENSP00000502616.1:p.Arg118Gln | |
| ENST00000675562.1:c.428G>A | ENSP00000501878.1:p.Arg143Gln | |
| ENST00000675653.1:c.353G>A | ENSP00000502718.1:p.Arg118Gln | |
| ENST00000675842.1:c.353G>A | ENSP00000501599.1:p.Arg118Gln | |
| ENST00000675904.1:n.1073G>A | ||
| ENST00000676218.1:c.293G>A | ENSP00000502646.1:p.Arg98Gln | |
| ENST00000676253.1:n.1075G>A | ||
| ENST00000311745.9:c.413G>A | ENSP00000309117.5:p.Arg138Gln | |
| ENST00000340209.8:c.368G>A | ENSP00000344196.4:p.Arg123Gln | |
| ENST00000355637.8:c.413G>A | ENSP00000347855.4:p.Arg138Gln | |
| ENST00000422070.8:c.482G>A | ENSP00000391269.4:p.Arg161Gln | |
| ENST00000436368.6:c.413G>A | ENSP00000402745.2:p.Arg138Gln | |
| ENST00000535565.6:c.379-7388G>A | ENSP00000438768.2:n.379-7388G>A | |
| ENST00000547338.5:c.353G>A | ENSP00000447717.1:p.Arg118Gln | |
| ENST00000547372.5:c.482G>A | ENSP00000446842.1:p.Arg161Gln | |
| ENST00000547605.5:c.350G>A | ENSP00000450402.1:p.Arg117Gln | |
| ENST00000550418.5:c.353G>A | ENSP00000450031.1:p.Arg118Gln | |
| ENST00000551752.5:c.353G>A | ENSP00000447281.1:p.Arg118Gln | |
| ENST00000552089.5:c.458G>A | ENSP00000448496.1:p.Arg153Gln | |
| ENST00000553186.5:c.353G>A | ENSP00000447753.1:p.Arg118Gln | |
| ENST00000570626.1:c.359G>A | ENSP00000458748.1:p.Arg120Gln | |
| ENST00000620507.4:c.368G>A | ENSP00000484837.1:p.Arg123Gln | |
| NM_001142333.1:c.353G>A | NP_001135805.1:p.Arg118Gln | |
| NM_001142334.1:c.353G>A | NP_001135806.1:p.Arg118Gln | |
| NM_001308117.1:c.482G>A | NP_001295046.1:p.Arg161Gln | |
| NM_018723.3:c.353G>A | NP_061193.2:p.Arg118Gln | |
| NM_145891.2:c.413G>A | NP_665898.1:p.Arg138Gln | |
| NM_145892.2:c.413G>A | NP_665899.1:p.Arg138Gln | |
| NM_145893.2:c.413G>A | NP_665900.1:p.Arg138Gln | |
| XM_005255379.2:c.581G>A | XP_005255436.1:p.Arg194Gln | |
| XM_005255380.2:c.560G>A | XP_005255437.1:p.Arg187Gln | |
| XM_005255381.2:c.527G>A | XP_005255438.1:p.Arg176Gln | |
| XM_005255382.2:c.512G>A | XP_005255439.1:p.Arg171Gln | |
| XM_005255383.3:c.458G>A | XP_005255440.1:p.Arg153Gln | |
| XM_005255384.2:c.452G>A | XP_005255441.1:p.Arg151Gln | |
| XM_005255385.3:c.452G>A | XP_005255442.1:p.Arg151Gln | |
| XM_005255386.2:c.428G>A | XP_005255443.1:p.Arg143Gln | |
| XM_005255387.2:c.413G>A | XP_005255444.1:p.Arg138Gln | |
| XM_005255388.3:c.359G>A | XP_005255445.1:p.Arg120Gln | |
| XM_005255390.2:c.353G>A | XP_005255447.1:p.Arg118Gln | |
| XM_005255391.2:c.353G>A | XP_005255448.1:p.Arg118Gln | |
| XM_005255393.2:c.413G>A | XP_005255450.1:p.Arg138Gln | |
| XM_005255394.3:c.413G>A | XP_005255451.1:p.Arg138Gln | |
| XM_011522544.1:c.929G>A | XP_011520846.1:p.Arg310Gln | |
| XM_011522545.1:c.458G>A | XP_011520847.1:p.Arg153Gln | |
| XM_011522546.1:c.413G>A | XP_011520848.1:p.Arg138Gln | |
| XM_011522547.1:c.413G>A | XP_011520849.1:p.Arg138Gln | |
| XM_011522548.1:c.413G>A | XP_011520850.1:p.Arg138Gln | |
| NM_001364800.1:c.353G>A | NP_001351729.1:p.Arg118Gln | |
| XM_005255386.4:c.428G>A | XP_005255443.1:p.Arg143Gln | |
| XM_005255387.4:c.413G>A | XP_005255444.1:p.Arg138Gln | |
| XM_005255390.4:c.353G>A | XP_005255447.1:p.Arg118Gln | |
| XM_005255391.4:c.353G>A | XP_005255448.1:p.Arg118Gln | |
| XM_005255394.4:c.413G>A | XP_005255451.1:p.Arg138Gln | |
| XM_011522546.2:c.413G>A | XP_011520848.1:p.Arg138Gln | |
| XM_011522547.2:c.413G>A | XP_011520849.1:p.Arg138Gln | |
| XM_011522548.2:c.413G>A | XP_011520850.1:p.Arg138Gln | |
| XM_017023318.2:c.950G>A | XP_016878807.1:p.Arg317Gln | |
| XM_017023319.2:c.950G>A | XP_016878808.1:p.Arg317Gln | |
| XM_017023320.2:c.482G>A | XP_016878809.1:p.Arg161Gln | |
| XM_017023321.2:c.461G>A | XP_016878810.1:p.Arg154Gln | |
| XM_017023322.2:c.461G>A | XP_016878811.1:p.Arg154Gln | |
| XM_017023323.2:c.428G>A | XP_016878812.1:p.Arg143Gln | |
| XM_017023324.2:c.482G>A | XP_016878813.1:p.Arg161Gln | |
| XM_017023326.2:c.353G>A | XP_016878815.1:p.Arg118Gln | |
| XM_017023327.1:c.428G>A | XP_016878816.1:p.Arg143Gln | |
| XM_017023328.2:c.482G>A | XP_016878817.1:p.Arg161Gln | |
| XM_017023329.2:c.482G>A | XP_016878818.1:p.Arg161Gln | |
| XM_017023330.1:c.461G>A | XP_016878819.1:p.Arg154Gln | |
| XM_017023331.2:c.293G>A | XP_016878820.1:p.Arg98Gln | |
| XM_017023332.1:c.428G>A | XP_016878821.1:p.Arg143Gln | |
| XM_017023333.1:c.353G>A | XP_016878822.1:p.Arg118Gln | |
| XM_017023334.1:c.428G>A | XP_016878823.1:p.Arg143Gln | |
| XM_017023335.2:c.353G>A | XP_016878824.1:p.Arg118Gln | |
| XM_017023336.1:c.353G>A | XP_016878825.1:p.Arg118Gln | |
| XM_017023337.1:c.428G>A | XP_016878826.1:p.Arg143Gln | |
| XM_017023338.1:c.353G>A | XP_016878827.1:p.Arg118Gln | |
| XM_017023340.1:c.353G>A | XP_016878829.1:p.Arg118Gln | |
| XM_017023341.2:c.353G>A | XP_016878830.1:p.Arg118Gln | |
| XM_017023342.1:c.353G>A | XP_016878831.1:p.Arg118Gln | |
| XM_024450303.1:c.911G>A | XP_024306071.1:p.Arg304Gln | |
| XM_024450304.1:c.461G>A | XP_024306072.1:p.Arg154Gln | |
| XM_024450305.1:c.461G>A | XP_024306073.1:p.Arg154Gln | |
| XM_024450306.1:c.413G>A | XP_024306074.1:p.Arg138Gln | |
| XM_024450307.1:c.353G>A | XP_024306075.1:p.Arg118Gln | |
| XM_024450308.1:c.428G>A | XP_024306076.1:p.Arg143Gln | |
| XM_024450309.1:c.482G>A | XP_024306077.1:p.Arg161Gln | |
| XM_024450310.1:c.482G>A | XP_024306078.1:p.Arg161Gln | |
| XM_024450311.1:c.461G>A | XP_024306079.1:p.Arg154Gln | |
| XM_024450312.1:c.461G>A | XP_024306080.1:p.Arg154Gln | |
| XM_024450313.1:c.461G>A | XP_024306081.1:p.Arg154Gln | |
| XM_024450314.1:c.482G>A | XP_024306082.1:p.Arg161Gln | |
| XM_024450315.1:c.293G>A | XP_024306083.1:p.Arg98Gln | |
| XM_024450316.1:c.353G>A | XP_024306084.1:p.Arg118Gln | |
| NM_001142333.2:c.353G>A | NP_001135805.1:p.Arg118Gln | |
| NM_001364800.2:c.353G>A | NP_001351729.1:p.Arg118Gln | |
| NM_018723.4:c.353G>A MANE Select | NP_061193.2:p.Arg118Gln | |
| NM_145891.3:c.413G>A | NP_665898.1:p.Arg138Gln | |
| NM_145892.3:c.413G>A | NP_665899.1:p.Arg138Gln | |
| NM_145893.3:c.413G>A MANE Plus Clinical | NP_665900.1:p.Arg138Gln | |
| NM_001142334.2:c.353G>A | NP_001135806.1:p.Arg118Gln |