Linked Data
ClinVar Variation Id:
460027
dbSNP Id:
rs150941982
ExAC:
16:7759095 G / A
gnomAD v2:
16-7759095-G-A
gnomAD v3:
16-7709093-G-A
gnomAD v4:
16-7709093-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.7709093G>A , CM000678.2:g.7709093G>A | GRCh38 |
| NC_000016.9:g.7759095G>A , CM000678.1:g.7759095G>A | GRCh37 |
| NC_000016.8:g.7699096G>A | NCBI36 |
| NG_011881.1:g.1694964G>A | |
| NG_011881.2:g.2474342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705321.1:c.973G>A | ENSP00000516112.1:p.Ala325Thr | |
| ENST00000355637.9:c.1149G>A MANE Plus Clinical | ENSP00000347855.4:p.Thr383= | |
| ENST00000570626.2:c.1036G>A | ENSP00000458748.2:p.Ala346Thr | |
| ENST00000682918.1:c.1011G>A | ENSP00000507921.1:p.Thr337= | |
| ENST00000683326.1:c.1092G>A | ENSP00000507562.1:p.Thr364= | |
| ENST00000550418.6:c.1033G>A MANE Select | ENSP00000450031.1:p.Ala345Thr | |
| ENST00000641259.1:c.1563G>A | ENSP00000493041.1:p.Thr521= | |
| ENST00000674626.1:c.1026G>A | ENSP00000502217.1:p.Thr342= | |
| ENST00000674792.1:c.1026G>A | ENSP00000502682.1:p.Thr342= | |
| ENST00000674859.1:n.1637G>A | ||
| ENST00000675077.1:n.1579G>A | ||
| ENST00000675242.1:n.1582G>A | ||
| ENST00000675459.1:c.1086G>A | ENSP00000502616.1:p.Thr362= | |
| ENST00000675562.1:c.1161G>A | ENSP00000501878.1:p.Thr387= | |
| ENST00000675653.1:c.1033G>A | ENSP00000502718.1:p.Ala345Thr | |
| ENST00000675725.1:n.2055G>A | ||
| ENST00000675842.1:c.1033G>A | ENSP00000501599.1:p.Ala345Thr | |
| ENST00000675904.1:n.1806G>A | ||
| ENST00000676218.1:c.973G>A | ENSP00000502646.1:p.Ala325Thr | |
| ENST00000676253.1:n.1755G>A | ||
| ENST00000311745.9:c.1096G>A | ENSP00000309117.5:p.Ala366Thr | |
| ENST00000340209.8:c.1048G>A | ENSP00000344196.4:p.Ala350Thr | |
| ENST00000355637.8:c.1149G>A | ENSP00000347855.4:p.Thr383= | |
| ENST00000422070.8:c.1162G>A | ENSP00000391269.4:p.Ala388Thr | |
| ENST00000436368.6:c.1096G>A | ENSP00000402745.2:p.Ala366Thr | |
| ENST00000535565.6:c.957G>A | ENSP00000438768.2:p.Thr319= | |
| ENST00000547338.5:c.1033G>A | ENSP00000447717.1:p.Ala345Thr | |
| ENST00000547372.5:c.1215G>A | ENSP00000446842.1:p.Thr405= | |
| ENST00000550418.5:c.1033G>A | ENSP00000450031.1:p.Ala345Thr | |
| ENST00000552089.5:c.1137G>A | ENSP00000448496.1:p.Thr379= | |
| ENST00000553186.5:c.952G>A | ENSP00000447753.1:p.Ala318Thr | |
| ENST00000567470.1:c.185G>A | ||
| ENST00000570188.1:n.308G>A | ||
| ENST00000620507.4:c.967G>A | ENSP00000484837.1:p.Ala323Thr | |
| NM_001142333.1:c.952G>A | NP_001135805.1:p.Ala318Thr | |
| NM_001142334.1:c.1033G>A | NP_001135806.1:p.Ala345Thr | |
| NM_001308117.1:c.1162G>A | NP_001295046.1:p.Ala388Thr | |
| NM_018723.3:c.1033G>A | NP_061193.2:p.Ala345Thr | |
| NM_145891.2:c.1096G>A | NP_665898.1:p.Ala366Thr | |
| NM_145892.2:c.1096G>A | NP_665899.1:p.Ala366Thr | |
| NM_145893.2:c.1149G>A | NP_665900.1:p.Thr383= | |
| XM_005255379.2:c.1317G>A | XP_005255436.1:p.Thr439= | |
| XM_005255380.2:c.1296G>A | XP_005255437.1:p.Thr432= | |
| XM_005255381.2:c.1263G>A | XP_005255438.1:p.Thr421= | |
| XM_005255382.2:c.1248G>A | XP_005255439.1:p.Thr416= | |
| XM_005255383.3:c.1194G>A | XP_005255440.1:p.Thr398= | |
| XM_005255384.2:c.1188G>A | XP_005255441.1:p.Thr396= | |
| XM_005255385.3:c.1188G>A | XP_005255442.1:p.Thr396= | |
| XM_005255386.2:c.1164G>A | XP_005255443.1:p.Thr388= | |
| XM_005255387.2:c.1149G>A | XP_005255444.1:p.Thr383= | |
| XM_005255388.3:c.1095G>A | XP_005255445.1:p.Thr365= | |
| XM_005255390.2:c.1089G>A | XP_005255447.1:p.Thr363= | |
| XM_005255391.2:c.1089G>A | XP_005255448.1:p.Thr363= | |
| XM_005255393.2:c.1056G>A | XP_005255450.1:p.Thr352= | |
| XM_005255394.3:c.1015G>A | XP_005255451.1:p.Ala339Thr | |
| XM_011522544.1:c.1665G>A | XP_011520846.1:p.Thr555= | |
| XM_011522545.1:c.1194G>A | XP_011520847.1:p.Thr398= | |
| XM_011522546.1:c.1093G>A | XP_011520848.1:p.Ala365Thr | |
| XM_011522547.1:c.1146G>A | XP_011520849.1:p.Thr382= | |
| XM_011522548.1:c.1065G>A | XP_011520850.1:p.Thr355= | |
| NM_001364800.1:c.1086G>A | NP_001351729.1:p.Thr362= | |
| XM_005255386.4:c.1164G>A | XP_005255443.1:p.Thr388= | |
| XM_005255387.4:c.1149G>A | XP_005255444.1:p.Thr383= | |
| XM_005255390.4:c.1089G>A | XP_005255447.1:p.Thr363= | |
| XM_005255391.4:c.1089G>A | XP_005255448.1:p.Thr363= | |
| XM_005255394.4:c.1015G>A | XP_005255451.1:p.Ala339Thr | |
| XM_011522546.2:c.1093G>A | XP_011520848.1:p.Ala365Thr | |
| XM_011522547.2:c.1146G>A | XP_011520849.1:p.Thr382= | |
| XM_011522548.2:c.1065G>A | XP_011520850.1:p.Thr355= | |
| XM_017023318.2:c.1686G>A | XP_016878807.1:p.Thr562= | |
| XM_017023319.2:c.1549G>A | XP_016878808.1:p.Ala517Thr | |
| XM_017023320.2:c.1218G>A | XP_016878809.1:p.Thr406= | |
| XM_017023321.2:c.1197G>A | XP_016878810.1:p.Thr399= | |
| XM_017023322.2:c.1194G>A | XP_016878811.1:p.Thr398= | |
| XM_017023323.2:c.1161G>A | XP_016878812.1:p.Thr387= | |
| XM_017023324.2:c.1162G>A | XP_016878813.1:p.Ala388Thr | |
| XM_017023326.2:c.1086G>A | XP_016878815.1:p.Thr362= | |
| XM_017023327.1:c.1108G>A | XP_016878816.1:p.Ala370Thr | |
| XM_017023328.2:c.1215G>A | XP_016878817.1:p.Thr405= | |
| XM_017023329.2:c.1081G>A | XP_016878818.1:p.Ala361Thr | |
| XM_017023330.1:c.1194G>A | XP_016878819.1:p.Thr398= | |
| XM_017023331.2:c.1029G>A | XP_016878820.1:p.Thr343= | |
| XM_017023332.1:c.1161G>A | XP_016878821.1:p.Thr387= | |
| XM_017023333.1:c.1033G>A | XP_016878822.1:p.Ala345Thr | |
| XM_017023334.1:c.1027G>A | XP_016878823.1:p.Ala343Thr | |
| XM_017023335.2:c.1086G>A | XP_016878824.1:p.Thr362= | |
| XM_017023336.1:c.1086G>A | XP_016878825.1:p.Thr362= | |
| XM_017023337.1:c.1080G>A | XP_016878826.1:p.Thr360= | |
| XM_017023338.1:c.952G>A | XP_016878827.1:p.Ala318Thr | |
| XM_017023340.1:c.940G>A | XP_016878829.1:p.Ala314Thr | |
| XM_017023341.2:c.1005G>A | XP_016878830.1:p.Thr335= | |
| XM_017023342.1:c.1005G>A | XP_016878831.1:p.Thr335= | |
| XM_024450303.1:c.1647G>A | XP_024306071.1:p.Thr549= | |
| XM_024450304.1:c.1141G>A | XP_024306072.1:p.Ala381Thr | |
| XM_024450305.1:c.1113G>A | XP_024306073.1:p.Thr371= | |
| XM_024450306.1:c.1056G>A | XP_024306074.1:p.Thr352= | |
| XM_024450307.1:c.993G>A | XP_024306075.1:p.Thr331= | |
| XM_024450308.1:c.1015G>A | XP_024306076.1:p.Ala339Thr | |
| XM_024450309.1:c.1134G>A | XP_024306077.1:p.Thr378= | |
| XM_024450310.1:c.1122G>A | XP_024306078.1:p.Thr374= | |
| XM_024450311.1:c.1113G>A | XP_024306079.1:p.Thr371= | |
| XM_024450312.1:c.1101G>A | XP_024306080.1:p.Thr367= | |
| XM_024450313.1:c.967G>A | XP_024306081.1:p.Ala323Thr | |
| XM_024450314.1:c.988G>A | XP_024306082.1:p.Ala330Thr | |
| XM_024450315.1:c.1026G>A | XP_024306083.1:p.Thr342= | |
| XM_024450316.1:c.993G>A | XP_024306084.1:p.Thr331= | |
| NM_001142333.2:c.952G>A | NP_001135805.1:p.Ala318Thr | |
| NM_001364800.2:c.1086G>A | NP_001351729.1:p.Thr362= | |
| NM_018723.4:c.1033G>A MANE Select | NP_061193.2:p.Ala345Thr | |
| NM_145891.3:c.1096G>A | NP_665898.1:p.Ala366Thr | |
| NM_145892.3:c.1096G>A | NP_665899.1:p.Ala366Thr | |
| NM_145893.3:c.1149G>A MANE Plus Clinical | NP_665900.1:p.Thr383= | |
| NM_001142334.2:c.1033G>A | NP_001135806.1:p.Ala345Thr |