Linked Data
ClinVar Variation Id:
207761
dbSNP Id:
rs762320484
ExAC:
16:2138448 T / G
gnomAD v2:
16-2138448-T-G
gnomAD v4:
16-2088447-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088447T>G , CM000678.2:g.2088447T>G | GRCh38 |
| NC_000016.9:g.2138448T>G , CM000678.1:g.2138448T>G | GRCh37 |
| NC_000016.8:g.2078449T>G | NCBI36 |
| NG_005895.1:g.44142T>G , LRG_487:g.44142T>G | |
| NG_008617.1:g.54774A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3610T>G | ENSP00000455997.2:n.*3610T>G | |
| ENST00000642206.2:c.5108T>G | ENSP00000495146.2:p.Ile1703Ser | |
| ENST00000642365.2:c.5258T>G | ENSP00000495459.2:p.Ile1753Ser | |
| ENST00000644417.2:c.*5774T>G | ENSP00000493912.2:n.*5774T>G | |
| ENST00000646464.2:c.*8010T>G | ENSP00000496610.2:n.*8010T>G | |
| ENST00000219476.9:c.5261T>G MANE Select | ENSP00000219476.3:p.Ile1754Ser | |
| ENST00000350773.9:c.5192T>G | ENSP00000344383.4:p.Ile1731Ser | |
| ENST00000401874.7:c.5060T>G | ENSP00000384468.2:p.Ile1687Ser | |
| ENST00000568454.6:c.5093T>G | ENSP00000454487.1:p.Ile1698Ser | |
| ENST00000569110.2:c.1484T>G | ||
| ENST00000569930.2:n.3143T>G | ||
| ENST00000642365.1:c.3915T>G | ||
| ENST00000642561.1:c.5120T>G | ENSP00000495099.1:p.Ile1707Ser | |
| ENST00000642791.1:n.858T>G | ||
| ENST00000642797.1:c.5063T>G | ENSP00000493846.1:p.Ile1688Ser | |
| ENST00000642936.1:c.5129T>G | ENSP00000494514.1:p.Ile1710Ser | |
| ENST00000643088.1:c.5054T>G | ENSP00000494747.1:p.Ile1685Ser | |
| ENST00000643426.1:n.2909T>G | ||
| ENST00000643946.1:c.5186T>G | ENSP00000495927.1:p.Ile1729Ser | |
| ENST00000644043.1:c.5132T>G | ENSP00000496262.1:p.Ile1711Ser | |
| ENST00000644329.1:c.5147T>G | ENSP00000496611.1:p.Ile1716Ser | |
| ENST00000644335.1:c.5057T>G | ENSP00000496317.1:p.Ile1686Ser | |
| ENST00000644399.1:c.5182T>G | ||
| ENST00000645024.1:n.3345T>G | ||
| ENST00000646388.1:c.5255T>G | ENSP00000495921.1:p.Ile1752Ser | |
| ENST00000646634.1:n.4076T>G | ||
| ENST00000646674.1:n.2513T>G | ||
| ENST00000647042.1:n.2484T>G | ||
| ENST00000647180.1:n.2374T>G | ||
| ENST00000219476.7:c.5261T>G | ENSP00000219476.3:p.Ile1754Ser | |
| ENST00000350773.8:c.5192T>G | ENSP00000344383.4:p.Ile1731Ser | |
| ENST00000382538.10:c.4916T>G | ENSP00000371978.6:p.Ile1639Ser | |
| ENST00000401874.6:c.5060T>G | ENSP00000384468.2:p.Ile1687Ser | |
| ENST00000439117.6:c.*4428T>G | ENSP00000406980.2:n.*4428T>G | |
| ENST00000439673.6:c.4952T>G | ENSP00000399232.2:p.Ile1651Ser | |
| ENST00000497886.5:n.2984T>G | ||
| ENST00000568454.5:c.5093T>G | ENSP00000454487.1:p.Ile1698Ser | |
| ENST00000569110.1:c.1443T>G | ||
| ENST00000569930.1:n.2376T>G | ||
| NM_000548.3:c.5261T>G , LRG_487t1:c.5261T>G | NP_000539.2:p.Ile1754Ser | |
| NM_001077183.1:c.5060T>G | NP_001070651.1:p.Ile1687Ser | |
| NM_001114382.1:c.5192T>G | NP_001107854.1:p.Ile1731Ser | |
| XM_005255529.3:c.5132T>G | XP_005255586.2:p.Ile1711Ser | |
| XM_005255531.3:c.5063T>G | XP_005255588.2:p.Ile1688Ser | |
| XM_011522636.1:c.5315T>G | XP_011520938.1:p.Ile1772Ser | |
| XM_011522637.1:c.5312T>G | XP_011520939.1:p.Ile1771Ser | |
| XM_011522638.1:c.5204T>G | XP_011520940.1:p.Ile1735Ser | |
| XM_011522639.1:c.5186T>G | XP_011520941.1:p.Ile1729Ser | |
| XM_011522640.1:c.5183T>G | XP_011520942.1:p.Ile1728Ser | |
| XM_011522641.1:c.4952T>G | XP_011520943.1:p.Ile1651Ser | |
| NM_000548.4:c.5261T>G | NP_000539.2:p.Ile1754Ser | |
| NM_001077183.2:c.5060T>G | NP_001070651.1:p.Ile1687Ser | |
| NM_001114382.2:c.5192T>G | NP_001107854.1:p.Ile1731Ser | |
| NM_001318827.1:c.4952T>G | NP_001305756.1:p.Ile1651Ser | |
| NM_001318829.1:c.4916T>G | NP_001305758.1:p.Ile1639Ser | |
| NM_001318831.1:c.4529T>G | NP_001305760.1:p.Ile1510Ser | |
| NM_001318832.1:c.5093T>G | NP_001305761.1:p.Ile1698Ser | |
| NM_001363528.1:c.5063T>G | NP_001350457.1:p.Ile1688Ser | |
| NM_021055.2:c.5132T>G | NP_066399.2:p.Ile1711Ser | |
| XM_005255531.4:c.5063T>G | XP_005255588.2:p.Ile1688Ser | |
| XM_011522636.2:c.5315T>G | XP_011520938.1:p.Ile1772Ser | |
| XM_011522637.2:c.5312T>G | XP_011520939.1:p.Ile1771Ser | |
| XM_011522638.2:c.5477T>G | XP_011520940.2:p.Ile1826Ser | |
| XM_011522639.2:c.5186T>G | XP_011520941.1:p.Ile1729Ser | |
| XM_011522640.2:c.5183T>G | XP_011520942.1:p.Ile1728Ser | |
| XM_017023615.1:c.5258T>G | XP_016879104.1:p.Ile1753Ser | |
| XM_017023616.1:c.5129T>G | XP_016879105.1:p.Ile1710Ser | |
| XM_017023617.1:c.5225T>G | XP_016879106.1:p.Ile1742Ser | |
| XM_017023618.1:c.3971T>G | XP_016879107.1:p.Ile1324Ser | |
| XM_024450413.1:c.5147T>G | XP_024306181.1:p.Ile1716Ser | |
| NM_000548.5:c.5261T>G MANE Select | NP_000539.2:p.Ile1754Ser | |
| NM_001370404.1:c.5129T>G | NP_001357333.1:p.Ile1710Ser | |
| NM_001370405.1:c.5120T>G | NP_001357334.1:p.Ile1707Ser | |
| NM_001077183.3:c.5060T>G | NP_001070651.1:p.Ile1687Ser | |
| NM_001114382.3:c.5192T>G | NP_001107854.1:p.Ile1731Ser | |
| NM_001318827.2:c.4952T>G | NP_001305756.1:p.Ile1651Ser | |
| NM_001318829.2:c.4916T>G | NP_001305758.1:p.Ile1639Ser | |
| NM_001318831.2:c.4529T>G | NP_001305760.1:p.Ile1510Ser | |
| NM_001318832.2:c.5093T>G | NP_001305761.1:p.Ile1698Ser | |
| NM_001363528.2:c.5063T>G | NP_001350457.1:p.Ile1688Ser | |
| NM_021055.3:c.5132T>G | NP_066399.2:p.Ile1711Ser |