Linked Data
ClinVar Variation Id:
468140
dbSNP Id:
rs760978505
ExAC:
16:2138110 C / T
gnomAD v2:
16-2138110-C-T
gnomAD v3:
16-2088109-C-T
gnomAD v4:
16-2088109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088109C>T , CM000678.2:g.2088109C>T | GRCh38 |
| NC_000016.9:g.2138110C>T , CM000678.1:g.2138110C>T | GRCh37 |
| NC_000016.8:g.2078111C>T | NCBI36 |
| NG_005895.1:g.43804C>T , LRG_487:g.43804C>T | |
| NG_008617.1:g.55112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3479C>T | ENSP00000455997.2:n.*3479C>T | |
| ENST00000642206.2:c.4977C>T | ENSP00000495146.2:p.Phe1659= | |
| ENST00000642365.2:c.5127C>T | ENSP00000495459.2:p.Phe1709= | |
| ENST00000644417.2:c.*5643C>T | ENSP00000493912.2:n.*5643C>T | |
| ENST00000646464.2:c.*7879C>T | ENSP00000496610.2:n.*7879C>T | |
| ENST00000219476.9:c.5130C>T MANE Select | ENSP00000219476.3:p.Phe1710= | |
| ENST00000350773.9:c.5061C>T | ENSP00000344383.4:p.Phe1687= | |
| ENST00000401874.7:c.4929C>T | ENSP00000384468.2:p.Phe1643= | |
| ENST00000568454.6:c.4962C>T | ENSP00000454487.1:p.Phe1654= | |
| ENST00000569110.2:c.1353C>T | ||
| ENST00000569930.2:n.3012C>T | ||
| ENST00000642365.1:c.3784C>T | ||
| ENST00000642561.1:c.5001C>T | ENSP00000495099.1:p.Phe1667= | |
| ENST00000642791.1:n.727C>T | ||
| ENST00000642797.1:c.4932C>T | ENSP00000493846.1:p.Phe1644= | |
| ENST00000642936.1:c.4998C>T | ENSP00000494514.1:p.Phe1666= | |
| ENST00000643088.1:c.4923C>T | ENSP00000494747.1:p.Phe1641= | |
| ENST00000643426.1:n.2778C>T | ||
| ENST00000643946.1:c.5055C>T | ENSP00000495927.1:p.Phe1685= | |
| ENST00000644043.1:c.5001C>T | ENSP00000496262.1:p.Phe1667= | |
| ENST00000644329.1:c.4929C>T | ENSP00000496611.1:p.Phe1643= | |
| ENST00000644335.1:c.4926C>T | ENSP00000496317.1:p.Phe1642= | |
| ENST00000644399.1:c.5051C>T | ||
| ENST00000645024.1:n.3214C>T | ||
| ENST00000646388.1:c.5124C>T | ENSP00000495921.1:p.Phe1708= | |
| ENST00000646634.1:n.3945C>T | ||
| ENST00000646674.1:n.2382C>T | ||
| ENST00000647042.1:n.2353C>T | ||
| ENST00000647180.1:n.2243C>T | ||
| ENST00000219476.7:c.5130C>T | ENSP00000219476.3:p.Phe1710= | |
| ENST00000350773.8:c.5061C>T | ENSP00000344383.4:p.Phe1687= | |
| ENST00000382538.10:c.4785C>T | ENSP00000371978.6:p.Phe1595= | |
| ENST00000401874.6:c.4929C>T | ENSP00000384468.2:p.Phe1643= | |
| ENST00000439117.6:c.*4297C>T | ENSP00000406980.2:n.*4297C>T | |
| ENST00000439673.6:c.4821C>T | ENSP00000399232.2:p.Phe1607= | |
| ENST00000497886.5:n.2853C>T | ||
| ENST00000568454.5:c.4962C>T | ENSP00000454487.1:p.Phe1654= | |
| ENST00000569110.1:c.1312C>T | ||
| ENST00000569930.1:n.2245C>T | ||
| NM_000548.3:c.5130C>T , LRG_487t1:c.5130C>T | NP_000539.2:p.Phe1710= | |
| NM_001077183.1:c.4929C>T | NP_001070651.1:p.Phe1643= | |
| NM_001114382.1:c.5061C>T | NP_001107854.1:p.Phe1687= | |
| XM_005255529.3:c.5001C>T | XP_005255586.2:p.Phe1667= | |
| XM_005255531.3:c.4932C>T | XP_005255588.2:p.Phe1644= | |
| XM_011522636.1:c.5184C>T | XP_011520938.1:p.Phe1728= | |
| XM_011522637.1:c.5181C>T | XP_011520939.1:p.Phe1727= | |
| XM_011522638.1:c.5073C>T | XP_011520940.1:p.Phe1691= | |
| XM_011522639.1:c.5055C>T | XP_011520941.1:p.Phe1685= | |
| XM_011522640.1:c.5052C>T | XP_011520942.1:p.Phe1684= | |
| XM_011522641.1:c.4821C>T | XP_011520943.1:p.Phe1607= | |
| NM_000548.4:c.5130C>T | NP_000539.2:p.Phe1710= | |
| NM_001077183.2:c.4929C>T | NP_001070651.1:p.Phe1643= | |
| NM_001114382.2:c.5061C>T | NP_001107854.1:p.Phe1687= | |
| NM_001318827.1:c.4821C>T | NP_001305756.1:p.Phe1607= | |
| NM_001318829.1:c.4785C>T | NP_001305758.1:p.Phe1595= | |
| NM_001318831.1:c.4398C>T | NP_001305760.1:p.Phe1466= | |
| NM_001318832.1:c.4962C>T | NP_001305761.1:p.Phe1654= | |
| NM_001363528.1:c.4932C>T | NP_001350457.1:p.Phe1644= | |
| NM_021055.2:c.5001C>T | NP_066399.2:p.Phe1667= | |
| XM_005255531.4:c.4932C>T | XP_005255588.2:p.Phe1644= | |
| XM_011522636.2:c.5184C>T | XP_011520938.1:p.Phe1728= | |
| XM_011522637.2:c.5181C>T | XP_011520939.1:p.Phe1727= | |
| XM_011522638.2:c.5346C>T | XP_011520940.2:p.Phe1782= | |
| XM_011522639.2:c.5055C>T | XP_011520941.1:p.Phe1685= | |
| XM_011522640.2:c.5052C>T | XP_011520942.1:p.Phe1684= | |
| XM_017023615.1:c.5127C>T | XP_016879104.1:p.Phe1709= | |
| XM_017023616.1:c.4998C>T | XP_016879105.1:p.Phe1666= | |
| XM_017023617.1:c.5094C>T | XP_016879106.1:p.Phe1698= | |
| XM_017023618.1:c.3840C>T | XP_016879107.1:p.Phe1280= | |
| XM_024450413.1:c.4929C>T | XP_024306181.1:p.Phe1643= | |
| NM_000548.5:c.5130C>T MANE Select | NP_000539.2:p.Phe1710= | |
| NM_001370404.1:c.4998C>T | NP_001357333.1:p.Phe1666= | |
| NM_001370405.1:c.5001C>T | NP_001357334.1:p.Phe1667= | |
| NM_001077183.3:c.4929C>T | NP_001070651.1:p.Phe1643= | |
| NM_001114382.3:c.5061C>T | NP_001107854.1:p.Phe1687= | |
| NM_001318827.2:c.4821C>T | NP_001305756.1:p.Phe1607= | |
| NM_001318829.2:c.4785C>T | NP_001305758.1:p.Phe1595= | |
| NM_001318831.2:c.4398C>T | NP_001305760.1:p.Phe1466= | |
| NM_001318832.2:c.4962C>T | NP_001305761.1:p.Phe1654= | |
| NM_001363528.2:c.4932C>T | NP_001350457.1:p.Phe1644= | |
| NM_021055.3:c.5001C>T | NP_066399.2:p.Phe1667= |