Linked Data
ClinVar Variation Id:
49895
dbSNP Id:
rs1748
ExAC:
16:2138269 T / C
gnomAD v2:
16-2138269-T-C
gnomAD v3:
16-2088268-T-C
gnomAD v4:
16-2088268-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088268T>C , CM000678.2:g.2088268T>C | GRCh38 |
| NC_000016.9:g.2138269T>C , CM000678.1:g.2138269T>C | GRCh37 |
| NC_000016.8:g.2078270T>C | NCBI36 |
| NG_005895.1:g.43963T>C , LRG_487:g.43963T>C | |
| NG_008617.1:g.54953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3551T>C | ENSP00000455997.2:n.*3551T>C | |
| ENST00000642206.2:c.5049T>C | ENSP00000495146.2:p.Asp1683= | |
| ENST00000642365.2:c.5199T>C | ENSP00000495459.2:p.Asp1733= | |
| ENST00000644417.2:c.*5715T>C | ENSP00000493912.2:n.*5715T>C | |
| ENST00000646464.2:c.*7951T>C | ENSP00000496610.2:n.*7951T>C | |
| ENST00000219476.9:c.5202T>C MANE Select | ENSP00000219476.3:p.Asp1734= | |
| ENST00000350773.9:c.5133T>C | ENSP00000344383.4:p.Asp1711= | |
| ENST00000401874.7:c.5001T>C | ENSP00000384468.2:p.Asp1667= | |
| ENST00000568454.6:c.5034T>C | ENSP00000454487.1:p.Asp1678= | |
| ENST00000569110.2:c.1425T>C | ||
| ENST00000569930.2:n.3084T>C | ||
| ENST00000642365.1:c.3856T>C | ||
| ENST00000642561.1:c.5061T>C | ENSP00000495099.1:p.Asp1687= | |
| ENST00000642791.1:n.799T>C | ||
| ENST00000642797.1:c.5004T>C | ENSP00000493846.1:p.Asp1668= | |
| ENST00000642936.1:c.5070T>C | ENSP00000494514.1:p.Asp1690= | |
| ENST00000643088.1:c.4995T>C | ENSP00000494747.1:p.Asp1665= | |
| ENST00000643426.1:n.2850T>C | ||
| ENST00000643946.1:c.5127T>C | ENSP00000495927.1:p.Asp1709= | |
| ENST00000644043.1:c.5073T>C | ENSP00000496262.1:p.Asp1691= | |
| ENST00000644329.1:c.5088T>C | ENSP00000496611.1:p.Asp1696= | |
| ENST00000644335.1:c.4998T>C | ENSP00000496317.1:p.Asp1666= | |
| ENST00000644399.1:c.5123T>C | ||
| ENST00000645024.1:n.3286T>C | ||
| ENST00000646388.1:c.5196T>C | ENSP00000495921.1:p.Asp1732= | |
| ENST00000646634.1:n.4017T>C | ||
| ENST00000646674.1:n.2454T>C | ||
| ENST00000647042.1:n.2425T>C | ||
| ENST00000647180.1:n.2315T>C | ||
| ENST00000219476.7:c.5202T>C | ENSP00000219476.3:p.Asp1734= | |
| ENST00000350773.8:c.5133T>C | ENSP00000344383.4:p.Asp1711= | |
| ENST00000382538.10:c.4857T>C | ENSP00000371978.6:p.Asp1619= | |
| ENST00000401874.6:c.5001T>C | ENSP00000384468.2:p.Asp1667= | |
| ENST00000439117.6:c.*4369T>C | ENSP00000406980.2:n.*4369T>C | |
| ENST00000439673.6:c.4893T>C | ENSP00000399232.2:p.Asp1631= | |
| ENST00000497886.5:n.2925T>C | ||
| ENST00000568454.5:c.5034T>C | ENSP00000454487.1:p.Asp1678= | |
| ENST00000569110.1:c.1384T>C | ||
| ENST00000569930.1:n.2317T>C | ||
| NM_000548.3:c.5202T>C , LRG_487t1:c.5202T>C | NP_000539.2:p.Asp1734= | |
| NM_001077183.1:c.5001T>C | NP_001070651.1:p.Asp1667= | |
| NM_001114382.1:c.5133T>C | NP_001107854.1:p.Asp1711= | |
| XM_005255529.3:c.5073T>C | XP_005255586.2:p.Asp1691= | |
| XM_005255531.3:c.5004T>C | XP_005255588.2:p.Asp1668= | |
| XM_011522636.1:c.5256T>C | XP_011520938.1:p.Asp1752= | |
| XM_011522637.1:c.5253T>C | XP_011520939.1:p.Asp1751= | |
| XM_011522638.1:c.5145T>C | XP_011520940.1:p.Asp1715= | |
| XM_011522639.1:c.5127T>C | XP_011520941.1:p.Asp1709= | |
| XM_011522640.1:c.5124T>C | XP_011520942.1:p.Asp1708= | |
| XM_011522641.1:c.4893T>C | XP_011520943.1:p.Asp1631= | |
| NM_000548.4:c.5202T>C | NP_000539.2:p.Asp1734= | |
| NM_001077183.2:c.5001T>C | NP_001070651.1:p.Asp1667= | |
| NM_001114382.2:c.5133T>C | NP_001107854.1:p.Asp1711= | |
| NM_001318827.1:c.4893T>C | NP_001305756.1:p.Asp1631= | |
| NM_001318829.1:c.4857T>C | NP_001305758.1:p.Asp1619= | |
| NM_001318831.1:c.4470T>C | NP_001305760.1:p.Asp1490= | |
| NM_001318832.1:c.5034T>C | NP_001305761.1:p.Asp1678= | |
| NM_001363528.1:c.5004T>C | NP_001350457.1:p.Asp1668= | |
| NM_021055.2:c.5073T>C | NP_066399.2:p.Asp1691= | |
| XM_005255531.4:c.5004T>C | XP_005255588.2:p.Asp1668= | |
| XM_011522636.2:c.5256T>C | XP_011520938.1:p.Asp1752= | |
| XM_011522637.2:c.5253T>C | XP_011520939.1:p.Asp1751= | |
| XM_011522638.2:c.5418T>C | XP_011520940.2:p.Asp1806= | |
| XM_011522639.2:c.5127T>C | XP_011520941.1:p.Asp1709= | |
| XM_011522640.2:c.5124T>C | XP_011520942.1:p.Asp1708= | |
| XM_017023615.1:c.5199T>C | XP_016879104.1:p.Asp1733= | |
| XM_017023616.1:c.5070T>C | XP_016879105.1:p.Asp1690= | |
| XM_017023617.1:c.5166T>C | XP_016879106.1:p.Asp1722= | |
| XM_017023618.1:c.3912T>C | XP_016879107.1:p.Asp1304= | |
| XM_024450413.1:c.5088T>C | XP_024306181.1:p.Asp1696= | |
| NM_000548.5:c.5202T>C MANE Select | NP_000539.2:p.Asp1734= | |
| NM_001370404.1:c.5070T>C | NP_001357333.1:p.Asp1690= | |
| NM_001370405.1:c.5061T>C | NP_001357334.1:p.Asp1687= | |
| NM_001077183.3:c.5001T>C | NP_001070651.1:p.Asp1667= | |
| NM_001114382.3:c.5133T>C | NP_001107854.1:p.Asp1711= | |
| NM_001318827.2:c.4893T>C | NP_001305756.1:p.Asp1631= | |
| NM_001318829.2:c.4857T>C | NP_001305758.1:p.Asp1619= | |
| NM_001318831.2:c.4470T>C | NP_001305760.1:p.Asp1490= | |
| NM_001318832.2:c.5034T>C | NP_001305761.1:p.Asp1678= | |
| NM_001363528.2:c.5004T>C | NP_001350457.1:p.Asp1668= | |
| NM_021055.3:c.5073T>C | NP_066399.2:p.Asp1691= |