Linked Data
ClinVar Variation Id:
373031
dbSNP Id:
rs201128942
ExAC:
6:86256830 C / A
gnomAD v2:
6-86256830-C-A
gnomAD v3:
6-85547112-C-A
gnomAD v4:
6-85547112-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85547112C>A , CM000668.2:g.85547112C>A | GRCh38 |
| NC_000006.11:g.86256830C>A , CM000668.1:g.86256830C>A | GRCh37 |
| NC_000006.10:g.86313549C>A | NCBI36 |
| NG_047171.1:g.52045G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369635.7:c.976G>T | ENSP00000358649.3:p.Gly326Cys | |
| ENST00000508658.6:c.1108G>T | ENSP00000422814.2:p.Glu370Ter | |
| ENST00000509338.6:c.1108G>T | ENSP00000424302.2:p.Glu370Ter | |
| ENST00000513869.2:c.*467+4G>T | ENSP00000426806.2:n.*467+4G>T | |
| ENST00000514419.6:c.*939G>T | ENSP00000425387.2:n.*939G>T | |
| ENST00000515216.6:c.1108G>T | ENSP00000425630.2:p.Glu370Ter | |
| ENST00000681965.1:c.2246G>T | ENSP00000507317.1:n.2246G>T | |
| ENST00000681981.1:c.1108G>T | ENSP00000507672.1:p.Glu370Ter | |
| ENST00000682022.1:c.*1000G>T | ENSP00000508118.1:n.*1000G>T | |
| ENST00000682023.1:c.*731G>T | ENSP00000507998.1:n.*731G>T | |
| ENST00000682034.1:c.*275+394G>T | ENSP00000506724.1:n.*275+394G>T | |
| ENST00000682057.1:c.*537G>T | ENSP00000507883.1:n.*537G>T | |
| ENST00000682083.1:c.*1018G>T | ENSP00000506859.1:n.*1018G>T | |
| ENST00000682106.1:n.3634G>T | ||
| ENST00000682133.1:c.1105G>T | ENSP00000507001.1:p.Glu369Ter | |
| ENST00000682168.1:n.1287G>T | ||
| ENST00000682171.1:c.949G>T | ENSP00000508327.1:p.Glu317Ter | |
| ENST00000682174.1:c.*731G>T | ENSP00000507248.1:n.*731G>T | |
| ENST00000682374.1:c.1105G>T | ENSP00000507425.1:p.Val369Leu | |
| ENST00000682412.1:c.948G>T | ENSP00000507297.1:n.948G>T | |
| ENST00000682454.1:c.*471G>T | ENSP00000507851.1:n.*471G>T | |
| ENST00000682455.1:c.1108G>T | ENSP00000507586.1:p.Val370Leu | |
| ENST00000682464.1:c.1108G>T | ENSP00000507625.1:p.Glu370Ter | |
| ENST00000682491.1:c.820G>T | ENSP00000506970.1:p.Glu274Ter | |
| ENST00000682497.1:c.1105G>T | ENSP00000507869.1:p.Glu369Ter | |
| ENST00000682504.1:c.*1014+4G>T | ENSP00000507623.1:n.*1014+4G>T | |
| ENST00000682514.1:n.1155G>T | ||
| ENST00000682594.1:n.1172G>T | ||
| ENST00000682633.1:c.949G>T | ENSP00000507843.1:p.Glu317Ter | |
| ENST00000682660.1:c.1108G>T | ENSP00000507539.1:p.Glu370Ter | |
| ENST00000682682.1:c.1108G>T | ENSP00000507777.1:p.Glu370Ter | |
| ENST00000682688.1:c.1104+4G>T | ENSP00000507097.1:n.1104+4G>T | |
| ENST00000682694.1:c.*471G>T | ENSP00000507387.1:n.*471G>T | |
| ENST00000682709.1:n.1287G>T | ||
| ENST00000682738.1:c.1108G>T | ENSP00000507742.1:p.Glu370Ter | |
| ENST00000682776.1:c.948+4G>T | ENSP00000507490.1:n.948+4G>T | |
| ENST00000682854.1:c.*1096G>T | ENSP00000507257.1:n.*1096G>T | |
| ENST00000682878.1:c.*796G>T | ENSP00000507360.1:n.*796G>T | |
| ENST00000682939.1:c.820G>T | ENSP00000506902.1:p.Glu274Ter | |
| ENST00000682991.1:c.1108G>T | ENSP00000508193.1:p.Glu370Ter | |
| ENST00000682995.1:c.948+4G>T | ENSP00000506807.1:n.948+4G>T | |
| ENST00000683073.1:c.1108G>T | ENSP00000507270.1:p.Glu370Ter | |
| ENST00000683074.1:c.*1018G>T | ENSP00000507008.1:n.*1018G>T | |
| ENST00000683085.1:c.1108G>T | ENSP00000507993.1:p.Glu370Ter | |
| ENST00000683097.1:c.1108G>T | ENSP00000507556.1:p.Glu370Ter | |
| ENST00000683126.1:c.*628G>T | ENSP00000507507.1:n.*628G>T | |
| ENST00000683195.1:c.*471G>T | ENSP00000508190.1:n.*471G>T | |
| ENST00000683196.1:c.*471G>T | ENSP00000508297.1:n.*471G>T | |
| ENST00000683364.1:c.*990G>T | ENSP00000507791.1:n.*990G>T | |
| ENST00000683436.1:c.*1018G>T | ENSP00000506874.1:n.*1018G>T | |
| ENST00000683458.1:c.972+4G>T | ENSP00000508204.1:n.972+4G>T | |
| ENST00000683473.1:n.1287G>T | ||
| ENST00000683479.1:c.1108G>T | ENSP00000507368.1:p.Glu370Ter | |
| ENST00000683481.1:c.1108G>T | ENSP00000507015.1:p.Gly370Cys | |
| ENST00000683541.1:c.1105G>T | ENSP00000507116.1:p.Glu369Ter | |
| ENST00000683542.1:c.*632G>T | ENSP00000506893.1:n.*632G>T | |
| ENST00000683577.1:c.976G>T | ENSP00000507516.1:p.Glu326Ter | |
| ENST00000683583.1:c.1108G>T | ENSP00000507244.1:p.Val370Leu | |
| ENST00000683643.1:c.976G>T | ENSP00000507444.1:p.Glu326Ter | |
| ENST00000683698.1:c.*624+4G>T | ENSP00000507000.1:n.*624+4G>T | |
| ENST00000683726.1:c.*628+4G>T | ENSP00000507744.1:n.*628+4G>T | |
| ENST00000683754.1:c.1027G>T | ENSP00000507707.1:p.Glu343Ter | |
| ENST00000683759.1:n.1287G>T | ||
| ENST00000683785.1:c.973G>T | ENSP00000507188.1:p.Glu325Ter | |
| ENST00000683803.1:c.1104+4G>T | ENSP00000508216.1:n.1104+4G>T | |
| ENST00000683857.1:c.*537G>T | ENSP00000508015.1:n.*537G>T | |
| ENST00000683873.1:c.*683G>T | ENSP00000506829.1:n.*683G>T | |
| ENST00000683878.1:c.*389G>T | ENSP00000507449.1:n.*389G>T | |
| ENST00000683880.1:c.*632G>T | ENSP00000508357.1:n.*632G>T | |
| ENST00000683898.1:c.943G>T | ENSP00000506897.1:p.Glu315Ter | |
| ENST00000683909.1:n.3150G>T | ||
| ENST00000683999.1:n.1165G>T | ||
| ENST00000684017.1:n.880G>T | ||
| ENST00000684108.1:n.1287G>T | ||
| ENST00000684118.1:c.1105G>T | ENSP00000507950.1:p.Glu369Ter | |
| ENST00000684150.1:c.949G>T | ENSP00000507401.1:p.Glu317Ter | |
| ENST00000684220.1:c.*990G>T | ENSP00000507382.1:n.*990G>T | |
| ENST00000684239.1:c.*733G>T | ENSP00000507479.1:n.*733G>T | |
| ENST00000684273.1:c.*601+4G>T | ENSP00000508063.1:n.*601+4G>T | |
| ENST00000684281.1:c.976G>T | ENSP00000507932.1:p.Glu326Ter | |
| ENST00000684299.1:c.952G>T | ENSP00000507637.1:p.Glu318Ter | |
| ENST00000684319.1:c.1108G>T | ENSP00000508346.1:p.Glu370Ter | |
| ENST00000684422.1:c.*781G>T | ENSP00000507146.1:n.*781G>T | |
| ENST00000684451.1:c.*632G>T | ENSP00000507384.1:n.*632G>T | |
| ENST00000684462.1:c.*1018G>T | ENSP00000507581.1:n.*1018G>T | |
| ENST00000684570.1:c.1171G>T | ENSP00000508127.1:p.Glu391Ter | |
| ENST00000684581.1:c.1105G>T | ENSP00000507294.1:p.Glu369Ter | |
| ENST00000684647.1:c.817G>T | ENSP00000506873.1:p.Glu273Ter | |
| ENST00000684680.1:c.952G>T | ENSP00000507491.1:p.Glu318Ter | |
| ENST00000684717.1:c.1108G>T | ENSP00000507024.1:p.Glu370Ter | |
| ENST00000314673.8:c.1108G>T MANE Select | ENSP00000313121.3:p.Glu370Ter | |
| ENST00000314673.7:c.1108G>T | ENSP00000313121.3:p.Glu370Ter | |
| ENST00000346348.7:c.976G>T | ENSP00000257769.3:p.Glu326Ter | |
| ENST00000369627.6:c.1108G>T | ENSP00000358641.2:p.Glu370Ter | |
| ENST00000369635.6:c.*471G>T | ENSP00000358649.2:n.*471G>T | |
| ENST00000503491.5:n.1597G>T | ||
| ENST00000505648.5:c.952G>T | ENSP00000427380.1:p.Glu318Ter | |
| ENST00000508980.5:n.1741+4G>T | ||
| ENST00000513865.5:c.1108G>T | ENSP00000420938.1:p.Glu370Ter | |
| ENST00000515216.5:c.889G>T | ENSP00000425630.1:p.Glu297Ter | |
| NM_001297614.2:c.1108G>T | NP_001284543.1:p.Glu370Ter | |
| NM_001304479.1:c.952G>T | NP_001291408.1:p.Glu318Ter | |
| NM_020468.5:c.976G>T | NP_065201.1:p.Glu326Ter | |
| NM_153816.5:c.1108G>T | NP_722523.1:p.Glu370Ter | |
| XM_005248738.3:c.1105G>T | XP_005248795.1:p.Glu369Ter | |
| XM_005248740.3:c.976G>T | XP_005248797.1:p.Glu326Ter | |
| XM_011535977.1:c.952G>T | XP_011534279.1:p.Glu318Ter | |
| XM_011535978.1:c.889G>T | XP_011534280.1:p.Glu297Ter | |
| XM_011535979.1:c.820G>T | XP_011534281.1:p.Glu274Ter | |
| XM_011535980.1:c.-48+4G>T | XP_011534282.1:n.-48+4G>T | |
| XR_942523.1:n.962G>T | ||
| NM_001350532.1:c.1171G>T | NP_001337461.1:p.Glu391Ter | |
| NM_001350533.1:c.1105G>T | NP_001337462.1:p.Glu369Ter | |
| NM_001350534.1:c.1105G>T | NP_001337463.1:p.Glu369Ter | |
| NM_001350535.1:c.1105G>T | NP_001337464.1:p.Glu369Ter | |
| NM_001350536.1:c.976G>T | NP_001337465.1:p.Glu326Ter | |
| NM_001350537.1:c.973G>T | NP_001337466.1:p.Glu325Ter | |
| NM_001350538.1:c.964G>T | NP_001337467.1:p.Glu322Ter | |
| NM_001350539.1:c.949G>T | NP_001337468.1:p.Glu317Ter | |
| NM_001350540.1:c.1108G>T | NP_001337469.1:p.Glu370Ter | |
| NM_001350541.1:c.1108G>T | NP_001337470.1:p.Glu370Ter | |
| NM_001350542.1:c.820G>T | NP_001337471.1:p.Glu274Ter | |
| NM_001350543.1:c.817G>T | NP_001337472.1:p.Glu273Ter | |
| NM_001350544.1:c.808G>T | NP_001337473.1:p.Glu270Ter | |
| NM_001350545.1:c.664G>T | NP_001337474.1:p.Glu222Ter | |
| NM_001350546.1:c.664G>T | NP_001337475.1:p.Glu222Ter | |
| NM_001350547.1:c.58G>T | NP_001337476.1:p.Glu20Ter | |
| NM_001350548.1:c.-48+4G>T | NP_001337477.1:n.-48+4G>T | |
| NM_001350549.1:c.-48+4G>T | NP_001337478.1:n.-48+4G>T | |
| NM_001350550.1:c.-48+4G>T | NP_001337479.1:n.-48+4G>T | |
| NM_001350551.1:c.-48+4G>T | NP_001337480.1:n.-48+4G>T | |
| NM_001350552.1:c.-76G>T | NP_001337481.1:n.-76G>T | |
| NM_001350553.1:c.-48+4G>T | NP_001337482.1:n.-48+4G>T | |
| NR_146774.1:n.1288G>T | ||
| NR_146775.1:n.1291G>T | ||
| NR_146776.1:n.1414G>T | ||
| NR_146777.1:n.1542+4G>T | ||
| NR_146778.1:n.1546G>T | ||
| NR_146779.1:n.1543G>T | ||
| XM_011535977.2:c.952G>T | XP_011534279.1:p.Glu318Ter | |
| XM_017011090.1:c.949G>T | XP_016866579.1:p.Glu317Ter | |
| XM_024446498.1:c.817G>T | XP_024302266.1:p.Glu273Ter | |
| XM_024446499.1:c.-76G>T | XP_024302267.1:n.-76G>T | |
| NM_153816.6:c.1108G>T MANE Select | NP_722523.1:p.Glu370Ter | |
| NM_001297614.3:c.1108G>T | NP_001284543.1:p.Glu370Ter | |
| NM_001304479.2:c.952G>T | NP_001291408.1:p.Glu318Ter | |
| NM_001350532.2:c.1171G>T | NP_001337461.1:p.Glu391Ter | |
| NM_001350533.2:c.1105G>T | NP_001337462.1:p.Glu369Ter | |
| NM_001350534.2:c.1105G>T | NP_001337463.1:p.Glu369Ter | |
| NM_001350535.2:c.1105G>T | NP_001337464.1:p.Glu369Ter | |
| NM_001350536.2:c.976G>T | NP_001337465.1:p.Glu326Ter | |
| NM_001350537.2:c.973G>T | NP_001337466.1:p.Glu325Ter | |
| NM_001350538.2:c.964G>T | NP_001337467.1:p.Glu322Ter | |
| NM_001350539.2:c.949G>T | NP_001337468.1:p.Glu317Ter | |
| NM_001350540.2:c.1108G>T | NP_001337469.1:p.Glu370Ter | |
| NM_001350541.2:c.1108G>T | NP_001337470.1:p.Glu370Ter | |
| NM_001350542.2:c.820G>T | NP_001337471.1:p.Glu274Ter | |
| NM_001350543.2:c.817G>T | NP_001337472.1:p.Glu273Ter | |
| NM_001350544.2:c.808G>T | NP_001337473.1:p.Glu270Ter | |
| NM_001350545.2:c.664G>T | NP_001337474.1:p.Glu222Ter | |
| NM_001350546.2:c.664G>T | NP_001337475.1:p.Glu222Ter | |
| NM_001350547.2:c.58G>T | NP_001337476.1:p.Glu20Ter | |
| NM_001350548.2:c.-48+4G>T | NP_001337477.1:n.-48+4G>T | |
| NM_001350549.2:c.-48+4G>T | NP_001337478.1:n.-48+4G>T | |
| NM_001350550.2:c.-48+4G>T | NP_001337479.1:n.-48+4G>T | |
| NM_001350551.2:c.-48+4G>T | NP_001337480.1:n.-48+4G>T | |
| NM_001350552.2:c.-76G>T | NP_001337481.1:n.-76G>T | |
| NM_001350553.2:c.-48+4G>T | NP_001337482.1:n.-48+4G>T | |
| NM_020468.6:c.976G>T | NP_065201.1:p.Glu326Ter | |
| NR_146774.2:n.990G>T | ||
| NR_146775.2:n.993G>T | ||
| NR_146776.2:n.1116G>T | ||
| NR_146777.2:n.1244+4G>T | ||
| NR_146778.2:n.1248G>T | ||
| NR_146779.2:n.1245G>T |