Linked Data
ClinVar Variation Id:
135386
dbSNP Id:
rs587778738
ExAC:
16:2134329 G / A
gnomAD v2:
16-2134329-G-A
gnomAD v4:
16-2084328-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084328G>A , CM000678.2:g.2084328G>A | GRCh38 |
| NC_000016.9:g.2134329G>A , CM000678.1:g.2134329G>A | GRCh37 |
| NC_000016.8:g.2074330G>A | NCBI36 |
| NG_005895.1:g.40023G>A , LRG_487:g.40023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2455G>A | ENSP00000455997.2:n.*2455G>A | |
| ENST00000642206.2:c.3953G>A | ENSP00000495146.2:p.Arg1318Gln | |
| ENST00000642365.2:c.4103G>A | ENSP00000495459.2:p.Arg1368Gln | |
| ENST00000644417.2:c.*4486G>A | ENSP00000493912.2:n.*4486G>A | |
| ENST00000646464.2:c.*6855G>A | ENSP00000496610.2:n.*6855G>A | |
| ENST00000219476.9:c.4106G>A MANE Select | ENSP00000219476.3:p.Arg1369Gln | |
| ENST00000350773.9:c.4037G>A | ENSP00000344383.4:p.Arg1346Gln | |
| ENST00000401874.7:c.3905G>A | ENSP00000384468.2:p.Arg1302Gln | |
| ENST00000568454.6:c.3938G>A | ENSP00000454487.1:p.Arg1313Gln | |
| ENST00000569110.2:c.342G>A | ||
| ENST00000569930.2:n.1988G>A | ||
| ENST00000642365.1:c.2760G>A | ||
| ENST00000642561.1:c.3977G>A | ENSP00000495099.1:p.Arg1326Gln | |
| ENST00000642728.1:n.288G>A | ||
| ENST00000642797.1:c.3908G>A | ENSP00000493846.1:p.Arg1303Gln | |
| ENST00000642936.1:c.3974G>A | ENSP00000494514.1:p.Arg1325Gln | |
| ENST00000643088.1:c.3905G>A | ENSP00000494747.1:p.Arg1302Gln | |
| ENST00000643177.1:n.120G>A | ||
| ENST00000643426.1:n.1754G>A | ||
| ENST00000643946.1:c.4037G>A | ENSP00000495927.1:p.Arg1346Gln | |
| ENST00000644043.1:c.3977G>A | ENSP00000496262.1:p.Arg1326Gln | |
| ENST00000644329.1:c.3905G>A | ENSP00000496611.1:p.Arg1302Gln | |
| ENST00000644335.1:c.3908G>A | ENSP00000496317.1:p.Arg1303Gln | |
| ENST00000644399.1:c.4027G>A | ||
| ENST00000645024.1:n.2190G>A | ||
| ENST00000645186.1:c.349G>A | ||
| ENST00000646388.1:c.4106G>A | ENSP00000495921.1:p.Arg1369Gln | |
| ENST00000646634.1:n.2921G>A | ||
| ENST00000646674.1:n.1358G>A | ||
| ENST00000647042.1:n.1329G>A | ||
| ENST00000647180.1:n.1219G>A | ||
| ENST00000219476.7:c.4106G>A | ENSP00000219476.3:p.Arg1369Gln | |
| ENST00000350773.8:c.4037G>A | ENSP00000344383.4:p.Arg1346Gln | |
| ENST00000382538.10:c.3761G>A | ENSP00000371978.6:p.Arg1254Gln | |
| ENST00000401874.6:c.3905G>A | ENSP00000384468.2:p.Arg1302Gln | |
| ENST00000439117.6:c.*3273G>A | ENSP00000406980.2:n.*3273G>A | |
| ENST00000439673.6:c.3797G>A | ENSP00000399232.2:p.Arg1266Gln | |
| ENST00000497886.5:n.1864G>A | ||
| ENST00000568454.5:c.3938G>A | ENSP00000454487.1:p.Arg1313Gln | |
| ENST00000569110.1:c.288G>A | ||
| ENST00000569930.1:n.1221G>A | ||
| NM_000548.3:c.4106G>A , LRG_487t1:c.4106G>A | NP_000539.2:p.Arg1369Gln | |
| NM_001077183.1:c.3905G>A | NP_001070651.1:p.Arg1302Gln | |
| NM_001114382.1:c.4037G>A | NP_001107854.1:p.Arg1346Gln | |
| XM_005255529.3:c.3977G>A | XP_005255586.2:p.Arg1326Gln | |
| XM_005255531.3:c.3908G>A | XP_005255588.2:p.Arg1303Gln | |
| XM_011522636.1:c.4160G>A | XP_011520938.1:p.Arg1387Gln | |
| XM_011522637.1:c.4157G>A | XP_011520939.1:p.Arg1386Gln | |
| XM_011522638.1:c.4049G>A | XP_011520940.1:p.Arg1350Gln | |
| XM_011522639.1:c.4031G>A | XP_011520941.1:p.Arg1344Gln | |
| XM_011522640.1:c.4028G>A | XP_011520942.1:p.Arg1343Gln | |
| XM_011522641.1:c.3797G>A | XP_011520943.1:p.Arg1266Gln | |
| NM_000548.4:c.4106G>A | NP_000539.2:p.Arg1369Gln | |
| NM_001077183.2:c.3905G>A | NP_001070651.1:p.Arg1302Gln | |
| NM_001114382.2:c.4037G>A | NP_001107854.1:p.Arg1346Gln | |
| NM_001318827.1:c.3797G>A | NP_001305756.1:p.Arg1266Gln | |
| NM_001318829.1:c.3761G>A | NP_001305758.1:p.Arg1254Gln | |
| NM_001318831.1:c.3374G>A | NP_001305760.1:p.Arg1125Gln | |
| NM_001318832.1:c.3938G>A | NP_001305761.1:p.Arg1313Gln | |
| NM_001363528.1:c.3908G>A | NP_001350457.1:p.Arg1303Gln | |
| NM_021055.2:c.3977G>A | NP_066399.2:p.Arg1326Gln | |
| XM_005255531.4:c.3908G>A | XP_005255588.2:p.Arg1303Gln | |
| XM_011522636.2:c.4160G>A | XP_011520938.1:p.Arg1387Gln | |
| XM_011522637.2:c.4157G>A | XP_011520939.1:p.Arg1386Gln | |
| XM_011522638.2:c.4322G>A | XP_011520940.2:p.Arg1441Gln | |
| XM_011522639.2:c.4031G>A | XP_011520941.1:p.Arg1344Gln | |
| XM_011522640.2:c.4028G>A | XP_011520942.1:p.Arg1343Gln | |
| XM_017023615.1:c.4103G>A | XP_016879104.1:p.Arg1368Gln | |
| XM_017023616.1:c.3974G>A | XP_016879105.1:p.Arg1325Gln | |
| XM_017023617.1:c.4070G>A | XP_016879106.1:p.Arg1357Gln | |
| XM_017023618.1:c.2816G>A | XP_016879107.1:p.Arg939Gln | |
| XM_024450413.1:c.3905G>A | XP_024306181.1:p.Arg1302Gln | |
| NM_000548.5:c.4106G>A MANE Select | NP_000539.2:p.Arg1369Gln | |
| NM_001370404.1:c.3974G>A | NP_001357333.1:p.Arg1325Gln | |
| NM_001370405.1:c.3977G>A | NP_001357334.1:p.Arg1326Gln | |
| NM_001077183.3:c.3905G>A | NP_001070651.1:p.Arg1302Gln | |
| NM_001114382.3:c.4037G>A | NP_001107854.1:p.Arg1346Gln | |
| NM_001318827.2:c.3797G>A | NP_001305756.1:p.Arg1266Gln | |
| NM_001318829.2:c.3761G>A | NP_001305758.1:p.Arg1254Gln | |
| NM_001318831.2:c.3374G>A | NP_001305760.1:p.Arg1125Gln | |
| NM_001318832.2:c.3938G>A | NP_001305761.1:p.Arg1313Gln | |
| NM_001363528.2:c.3908G>A | NP_001350457.1:p.Arg1303Gln | |
| NM_021055.3:c.3977G>A | NP_066399.2:p.Arg1326Gln |