Linked Data
ClinVar Variation Id:
468147
dbSNP Id:
rs781407050
ExAC:
16:2138270 A / G
gnomAD v2:
16-2138270-A-G
gnomAD v4:
16-2088269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088269A>G , CM000678.2:g.2088269A>G | GRCh38 |
| NC_000016.9:g.2138270A>G , CM000678.1:g.2138270A>G | GRCh37 |
| NC_000016.8:g.2078271A>G | NCBI36 |
| NG_005895.1:g.43964A>G , LRG_487:g.43964A>G | |
| NG_008617.1:g.54952T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3552A>G | ENSP00000455997.2:n.*3552A>G | |
| ENST00000642206.2:c.5050A>G | ENSP00000495146.2:p.Ile1684Val | |
| ENST00000642365.2:c.5200A>G | ENSP00000495459.2:p.Ile1734Val | |
| ENST00000644417.2:c.*5716A>G | ENSP00000493912.2:n.*5716A>G | |
| ENST00000646464.2:c.*7952A>G | ENSP00000496610.2:n.*7952A>G | |
| ENST00000219476.9:c.5203A>G MANE Select | ENSP00000219476.3:p.Ile1735Val | |
| ENST00000350773.9:c.5134A>G | ENSP00000344383.4:p.Ile1712Val | |
| ENST00000401874.7:c.5002A>G | ENSP00000384468.2:p.Ile1668Val | |
| ENST00000568454.6:c.5035A>G | ENSP00000454487.1:p.Ile1679Val | |
| ENST00000569110.2:c.1426A>G | ||
| ENST00000569930.2:n.3085A>G | ||
| ENST00000642365.1:c.3857A>G | ||
| ENST00000642561.1:c.5062A>G | ENSP00000495099.1:p.Ile1688Val | |
| ENST00000642791.1:n.800A>G | ||
| ENST00000642797.1:c.5005A>G | ENSP00000493846.1:p.Ile1669Val | |
| ENST00000642936.1:c.5071A>G | ENSP00000494514.1:p.Ile1691Val | |
| ENST00000643088.1:c.4996A>G | ENSP00000494747.1:p.Ile1666Val | |
| ENST00000643426.1:n.2851A>G | ||
| ENST00000643946.1:c.5128A>G | ENSP00000495927.1:p.Ile1710Val | |
| ENST00000644043.1:c.5074A>G | ENSP00000496262.1:p.Ile1692Val | |
| ENST00000644329.1:c.5089A>G | ENSP00000496611.1:p.Ile1697Val | |
| ENST00000644335.1:c.4999A>G | ENSP00000496317.1:p.Ile1667Val | |
| ENST00000644399.1:c.5124A>G | ||
| ENST00000645024.1:n.3287A>G | ||
| ENST00000646388.1:c.5197A>G | ENSP00000495921.1:p.Ile1733Val | |
| ENST00000646634.1:n.4018A>G | ||
| ENST00000646674.1:n.2455A>G | ||
| ENST00000647042.1:n.2426A>G | ||
| ENST00000647180.1:n.2316A>G | ||
| ENST00000219476.7:c.5203A>G | ENSP00000219476.3:p.Ile1735Val | |
| ENST00000350773.8:c.5134A>G | ENSP00000344383.4:p.Ile1712Val | |
| ENST00000382538.10:c.4858A>G | ENSP00000371978.6:p.Ile1620Val | |
| ENST00000401874.6:c.5002A>G | ENSP00000384468.2:p.Ile1668Val | |
| ENST00000439117.6:c.*4370A>G | ENSP00000406980.2:n.*4370A>G | |
| ENST00000439673.6:c.4894A>G | ENSP00000399232.2:p.Ile1632Val | |
| ENST00000497886.5:n.2926A>G | ||
| ENST00000568454.5:c.5035A>G | ENSP00000454487.1:p.Ile1679Val | |
| ENST00000569110.1:c.1385A>G | ||
| ENST00000569930.1:n.2318A>G | ||
| NM_000548.3:c.5203A>G , LRG_487t1:c.5203A>G | NP_000539.2:p.Ile1735Val | |
| NM_001077183.1:c.5002A>G | NP_001070651.1:p.Ile1668Val | |
| NM_001114382.1:c.5134A>G | NP_001107854.1:p.Ile1712Val | |
| XM_005255529.3:c.5074A>G | XP_005255586.2:p.Ile1692Val | |
| XM_005255531.3:c.5005A>G | XP_005255588.2:p.Ile1669Val | |
| XM_011522636.1:c.5257A>G | XP_011520938.1:p.Ile1753Val | |
| XM_011522637.1:c.5254A>G | XP_011520939.1:p.Ile1752Val | |
| XM_011522638.1:c.5146A>G | XP_011520940.1:p.Ile1716Val | |
| XM_011522639.1:c.5128A>G | XP_011520941.1:p.Ile1710Val | |
| XM_011522640.1:c.5125A>G | XP_011520942.1:p.Ile1709Val | |
| XM_011522641.1:c.4894A>G | XP_011520943.1:p.Ile1632Val | |
| NM_000548.4:c.5203A>G | NP_000539.2:p.Ile1735Val | |
| NM_001077183.2:c.5002A>G | NP_001070651.1:p.Ile1668Val | |
| NM_001114382.2:c.5134A>G | NP_001107854.1:p.Ile1712Val | |
| NM_001318827.1:c.4894A>G | NP_001305756.1:p.Ile1632Val | |
| NM_001318829.1:c.4858A>G | NP_001305758.1:p.Ile1620Val | |
| NM_001318831.1:c.4471A>G | NP_001305760.1:p.Ile1491Val | |
| NM_001318832.1:c.5035A>G | NP_001305761.1:p.Ile1679Val | |
| NM_001363528.1:c.5005A>G | NP_001350457.1:p.Ile1669Val | |
| NM_021055.2:c.5074A>G | NP_066399.2:p.Ile1692Val | |
| XM_005255531.4:c.5005A>G | XP_005255588.2:p.Ile1669Val | |
| XM_011522636.2:c.5257A>G | XP_011520938.1:p.Ile1753Val | |
| XM_011522637.2:c.5254A>G | XP_011520939.1:p.Ile1752Val | |
| XM_011522638.2:c.5419A>G | XP_011520940.2:p.Ile1807Val | |
| XM_011522639.2:c.5128A>G | XP_011520941.1:p.Ile1710Val | |
| XM_011522640.2:c.5125A>G | XP_011520942.1:p.Ile1709Val | |
| XM_017023615.1:c.5200A>G | XP_016879104.1:p.Ile1734Val | |
| XM_017023616.1:c.5071A>G | XP_016879105.1:p.Ile1691Val | |
| XM_017023617.1:c.5167A>G | XP_016879106.1:p.Ile1723Val | |
| XM_017023618.1:c.3913A>G | XP_016879107.1:p.Ile1305Val | |
| XM_024450413.1:c.5089A>G | XP_024306181.1:p.Ile1697Val | |
| NM_000548.5:c.5203A>G MANE Select | NP_000539.2:p.Ile1735Val | |
| NM_001370404.1:c.5071A>G | NP_001357333.1:p.Ile1691Val | |
| NM_001370405.1:c.5062A>G | NP_001357334.1:p.Ile1688Val | |
| NM_001077183.3:c.5002A>G | NP_001070651.1:p.Ile1668Val | |
| NM_001114382.3:c.5134A>G | NP_001107854.1:p.Ile1712Val | |
| NM_001318827.2:c.4894A>G | NP_001305756.1:p.Ile1632Val | |
| NM_001318829.2:c.4858A>G | NP_001305758.1:p.Ile1620Val | |
| NM_001318831.2:c.4471A>G | NP_001305760.1:p.Ile1491Val | |
| NM_001318832.2:c.5035A>G | NP_001305761.1:p.Ile1679Val | |
| NM_001363528.2:c.5005A>G | NP_001350457.1:p.Ile1669Val | |
| NM_021055.3:c.5074A>G | NP_066399.2:p.Ile1692Val |