Linked Data
ClinVar Variation Id:
49282
dbSNP Id:
rs45462593
ExAC:
16:2134246 C / A
gnomAD v2:
16-2134246-C-A
gnomAD v3:
16-2084245-C-A
gnomAD v4:
16-2084245-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084245C>A , CM000678.2:g.2084245C>A | GRCh38 |
| NC_000016.9:g.2134246C>A , CM000678.1:g.2134246C>A | GRCh37 |
| NC_000016.8:g.2074247C>A | NCBI36 |
| NG_005895.1:g.39940C>A , LRG_487:g.39940C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2372C>A | ENSP00000455997.2:n.*2372C>A | |
| ENST00000642206.2:c.3870C>A | ENSP00000495146.2:p.Ser1290Arg | |
| ENST00000642365.2:c.4020C>A | ENSP00000495459.2:p.Ser1340Arg | |
| ENST00000644417.2:c.*4403C>A | ENSP00000493912.2:n.*4403C>A | |
| ENST00000646464.2:c.*6772C>A | ENSP00000496610.2:n.*6772C>A | |
| ENST00000219476.9:c.4023C>A MANE Select | ENSP00000219476.3:p.Ser1341Arg | |
| ENST00000350773.9:c.3954C>A | ENSP00000344383.4:p.Ser1318Arg | |
| ENST00000401874.7:c.3822C>A | ENSP00000384468.2:p.Ser1274Arg | |
| ENST00000568454.6:c.3855C>A | ENSP00000454487.1:p.Ser1285Arg | |
| ENST00000569110.2:c.259C>A | ||
| ENST00000569930.2:n.1905C>A | ||
| ENST00000642365.1:c.2677C>A | ||
| ENST00000642561.1:c.3894C>A | ENSP00000495099.1:p.Ser1298Arg | |
| ENST00000642728.1:n.205C>A | ||
| ENST00000642797.1:c.3825C>A | ENSP00000493846.1:p.Ser1275Arg | |
| ENST00000642936.1:c.3891C>A | ENSP00000494514.1:p.Ser1297Arg | |
| ENST00000643088.1:c.3822C>A | ENSP00000494747.1:p.Ser1274Arg | |
| ENST00000643177.1:n.37C>A | ||
| ENST00000643426.1:n.1671C>A | ||
| ENST00000643533.1:n.464C>A | ||
| ENST00000643946.1:c.3954C>A | ENSP00000495927.1:p.Ser1318Arg | |
| ENST00000644043.1:c.3894C>A | ENSP00000496262.1:p.Ser1298Arg | |
| ENST00000644329.1:c.3822C>A | ENSP00000496611.1:p.Ser1274Arg | |
| ENST00000644335.1:c.3825C>A | ENSP00000496317.1:p.Ser1275Arg | |
| ENST00000644399.1:c.3944C>A | ||
| ENST00000645024.1:n.2107C>A | ||
| ENST00000645186.1:c.266C>A | ||
| ENST00000646388.1:c.4023C>A | ENSP00000495921.1:p.Ser1341Arg | |
| ENST00000646634.1:n.2838C>A | ||
| ENST00000646674.1:n.1275C>A | ||
| ENST00000647042.1:n.1246C>A | ||
| ENST00000647180.1:n.1136C>A | ||
| ENST00000219476.7:c.4023C>A | ENSP00000219476.3:p.Ser1341Arg | |
| ENST00000350773.8:c.3954C>A | ENSP00000344383.4:p.Ser1318Arg | |
| ENST00000382538.10:c.3678C>A | ENSP00000371978.6:p.Ser1226Arg | |
| ENST00000401874.6:c.3822C>A | ENSP00000384468.2:p.Ser1274Arg | |
| ENST00000439117.6:c.*3190C>A | ENSP00000406980.2:n.*3190C>A | |
| ENST00000439673.6:c.3714C>A | ENSP00000399232.2:p.Ser1238Arg | |
| ENST00000497886.5:n.1781C>A | ||
| ENST00000568454.5:c.3855C>A | ENSP00000454487.1:p.Ser1285Arg | |
| ENST00000569110.1:c.205C>A | ||
| ENST00000569930.1:n.1138C>A | ||
| NM_000548.3:c.4023C>A , LRG_487t1:c.4023C>A | NP_000539.2:p.Ser1341Arg | |
| NM_001077183.1:c.3822C>A | NP_001070651.1:p.Ser1274Arg | |
| NM_001114382.1:c.3954C>A | NP_001107854.1:p.Ser1318Arg | |
| XM_005255529.3:c.3894C>A | XP_005255586.2:p.Ser1298Arg | |
| XM_005255531.3:c.3825C>A | XP_005255588.2:p.Ser1275Arg | |
| XM_011522636.1:c.4077C>A | XP_011520938.1:p.Ser1359Arg | |
| XM_011522637.1:c.4074C>A | XP_011520939.1:p.Ser1358Arg | |
| XM_011522638.1:c.3966C>A | XP_011520940.1:p.Ser1322Arg | |
| XM_011522639.1:c.3948C>A | XP_011520941.1:p.Ser1316Arg | |
| XM_011522640.1:c.3945C>A | XP_011520942.1:p.Ser1315Arg | |
| XM_011522641.1:c.3714C>A | XP_011520943.1:p.Ser1238Arg | |
| NM_000548.4:c.4023C>A | NP_000539.2:p.Ser1341Arg | |
| NM_001077183.2:c.3822C>A | NP_001070651.1:p.Ser1274Arg | |
| NM_001114382.2:c.3954C>A | NP_001107854.1:p.Ser1318Arg | |
| NM_001318827.1:c.3714C>A | NP_001305756.1:p.Ser1238Arg | |
| NM_001318829.1:c.3678C>A | NP_001305758.1:p.Ser1226Arg | |
| NM_001318831.1:c.3291C>A | NP_001305760.1:p.Ser1097Arg | |
| NM_001318832.1:c.3855C>A | NP_001305761.1:p.Ser1285Arg | |
| NM_001363528.1:c.3825C>A | NP_001350457.1:p.Ser1275Arg | |
| NM_021055.2:c.3894C>A | NP_066399.2:p.Ser1298Arg | |
| XM_005255531.4:c.3825C>A | XP_005255588.2:p.Ser1275Arg | |
| XM_011522636.2:c.4077C>A | XP_011520938.1:p.Ser1359Arg | |
| XM_011522637.2:c.4074C>A | XP_011520939.1:p.Ser1358Arg | |
| XM_011522638.2:c.4239C>A | XP_011520940.2:p.Ser1413Arg | |
| XM_011522639.2:c.3948C>A | XP_011520941.1:p.Ser1316Arg | |
| XM_011522640.2:c.3945C>A | XP_011520942.1:p.Ser1315Arg | |
| XM_017023615.1:c.4020C>A | XP_016879104.1:p.Ser1340Arg | |
| XM_017023616.1:c.3891C>A | XP_016879105.1:p.Ser1297Arg | |
| XM_017023617.1:c.3987C>A | XP_016879106.1:p.Ser1329Arg | |
| XM_017023618.1:c.2733C>A | XP_016879107.1:p.Ser911Arg | |
| XM_024450413.1:c.3822C>A | XP_024306181.1:p.Ser1274Arg | |
| NM_000548.5:c.4023C>A MANE Select | NP_000539.2:p.Ser1341Arg | |
| NM_001370404.1:c.3891C>A | NP_001357333.1:p.Ser1297Arg | |
| NM_001370405.1:c.3894C>A | NP_001357334.1:p.Ser1298Arg | |
| NM_001077183.3:c.3822C>A | NP_001070651.1:p.Ser1274Arg | |
| NM_001114382.3:c.3954C>A | NP_001107854.1:p.Ser1318Arg | |
| NM_001318827.2:c.3714C>A | NP_001305756.1:p.Ser1238Arg | |
| NM_001318829.2:c.3678C>A | NP_001305758.1:p.Ser1226Arg | |
| NM_001318831.2:c.3291C>A | NP_001305760.1:p.Ser1097Arg | |
| NM_001318832.2:c.3855C>A | NP_001305761.1:p.Ser1285Arg | |
| NM_001363528.2:c.3825C>A | NP_001350457.1:p.Ser1275Arg | |
| NM_021055.3:c.3894C>A | NP_066399.2:p.Ser1298Arg |