Linked Data
ClinVar Variation Id:
535926
dbSNP Id:
rs1358186613
gnomAD v3:
16-2088055-G-C
gnomAD v4:
16-2088055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088055G>C , CM000678.2:g.2088055G>C | GRCh38 |
| NC_000016.9:g.2138056G>C , CM000678.1:g.2138056G>C | GRCh37 |
| NC_000016.8:g.2078057G>C | NCBI36 |
| NG_005895.1:g.43750G>C , LRG_487:g.43750G>C | |
| NG_008617.1:g.55166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3425G>C | ENSP00000455997.2:n.*3425G>C | |
| ENST00000642206.2:c.4923G>C | ENSP00000495146.2:p.Glu1641Asp | |
| ENST00000642365.2:c.5073G>C | ENSP00000495459.2:p.Glu1691Asp | |
| ENST00000644417.2:c.*5589G>C | ENSP00000493912.2:n.*5589G>C | |
| ENST00000646464.2:c.*7825G>C | ENSP00000496610.2:n.*7825G>C | |
| ENST00000219476.9:c.5076G>C MANE Select | ENSP00000219476.3:p.Glu1692Asp | |
| ENST00000350773.9:c.5007G>C | ENSP00000344383.4:p.Glu1669Asp | |
| ENST00000401874.7:c.4875G>C | ENSP00000384468.2:p.Glu1625Asp | |
| ENST00000568454.6:c.4908G>C | ENSP00000454487.1:p.Glu1636Asp | |
| ENST00000569110.2:c.1299G>C | ||
| ENST00000569930.2:n.2958G>C | ||
| ENST00000642365.1:c.3730G>C | ||
| ENST00000642561.1:c.4947G>C | ENSP00000495099.1:p.Glu1649Asp | |
| ENST00000642791.1:n.673G>C | ||
| ENST00000642797.1:c.4878G>C | ENSP00000493846.1:p.Glu1626Asp | |
| ENST00000642936.1:c.4944G>C | ENSP00000494514.1:p.Glu1648Asp | |
| ENST00000643088.1:c.4869G>C | ENSP00000494747.1:p.Glu1623Asp | |
| ENST00000643426.1:n.2724G>C | ||
| ENST00000643946.1:c.5001G>C | ENSP00000495927.1:p.Glu1667Asp | |
| ENST00000644043.1:c.4947G>C | ENSP00000496262.1:p.Glu1649Asp | |
| ENST00000644329.1:c.4875G>C | ENSP00000496611.1:p.Glu1625Asp | |
| ENST00000644335.1:c.4872G>C | ENSP00000496317.1:p.Glu1624Asp | |
| ENST00000644399.1:c.4997G>C | ||
| ENST00000645024.1:n.3160G>C | ||
| ENST00000646388.1:c.5070G>C | ENSP00000495921.1:p.Glu1690Asp | |
| ENST00000646634.1:n.3891G>C | ||
| ENST00000646674.1:n.2328G>C | ||
| ENST00000647042.1:n.2299G>C | ||
| ENST00000647180.1:n.2189G>C | ||
| ENST00000219476.7:c.5076G>C | ENSP00000219476.3:p.Glu1692Asp | |
| ENST00000350773.8:c.5007G>C | ENSP00000344383.4:p.Glu1669Asp | |
| ENST00000382538.10:c.4731G>C | ENSP00000371978.6:p.Glu1577Asp | |
| ENST00000401874.6:c.4875G>C | ENSP00000384468.2:p.Glu1625Asp | |
| ENST00000439117.6:c.*4243G>C | ENSP00000406980.2:n.*4243G>C | |
| ENST00000439673.6:c.4767G>C | ENSP00000399232.2:p.Glu1589Asp | |
| ENST00000497886.5:n.2799G>C | ||
| ENST00000568454.5:c.4908G>C | ENSP00000454487.1:p.Glu1636Asp | |
| ENST00000569110.1:c.1258G>C | ||
| ENST00000569930.1:n.2191G>C | ||
| NM_000548.3:c.5076G>C , LRG_487t1:c.5076G>C | NP_000539.2:p.Glu1692Asp | |
| NM_001077183.1:c.4875G>C | NP_001070651.1:p.Glu1625Asp | |
| NM_001114382.1:c.5007G>C | NP_001107854.1:p.Glu1669Asp | |
| XM_005255529.3:c.4947G>C | XP_005255586.2:p.Glu1649Asp | |
| XM_005255531.3:c.4878G>C | XP_005255588.2:p.Glu1626Asp | |
| XM_011522636.1:c.5130G>C | XP_011520938.1:p.Glu1710Asp | |
| XM_011522637.1:c.5127G>C | XP_011520939.1:p.Glu1709Asp | |
| XM_011522638.1:c.5019G>C | XP_011520940.1:p.Glu1673Asp | |
| XM_011522639.1:c.5001G>C | XP_011520941.1:p.Glu1667Asp | |
| XM_011522640.1:c.4998G>C | XP_011520942.1:p.Glu1666Asp | |
| XM_011522641.1:c.4767G>C | XP_011520943.1:p.Glu1589Asp | |
| NM_000548.4:c.5076G>C | NP_000539.2:p.Glu1692Asp | |
| NM_001077183.2:c.4875G>C | NP_001070651.1:p.Glu1625Asp | |
| NM_001114382.2:c.5007G>C | NP_001107854.1:p.Glu1669Asp | |
| NM_001318827.1:c.4767G>C | NP_001305756.1:p.Glu1589Asp | |
| NM_001318829.1:c.4731G>C | NP_001305758.1:p.Glu1577Asp | |
| NM_001318831.1:c.4344G>C | NP_001305760.1:p.Glu1448Asp | |
| NM_001318832.1:c.4908G>C | NP_001305761.1:p.Glu1636Asp | |
| NM_001363528.1:c.4878G>C | NP_001350457.1:p.Glu1626Asp | |
| NM_021055.2:c.4947G>C | NP_066399.2:p.Glu1649Asp | |
| XM_005255531.4:c.4878G>C | XP_005255588.2:p.Glu1626Asp | |
| XM_011522636.2:c.5130G>C | XP_011520938.1:p.Glu1710Asp | |
| XM_011522637.2:c.5127G>C | XP_011520939.1:p.Glu1709Asp | |
| XM_011522638.2:c.5292G>C | XP_011520940.2:p.Glu1764Asp | |
| XM_011522639.2:c.5001G>C | XP_011520941.1:p.Glu1667Asp | |
| XM_011522640.2:c.4998G>C | XP_011520942.1:p.Glu1666Asp | |
| XM_017023615.1:c.5073G>C | XP_016879104.1:p.Glu1691Asp | |
| XM_017023616.1:c.4944G>C | XP_016879105.1:p.Glu1648Asp | |
| XM_017023617.1:c.5040G>C | XP_016879106.1:p.Glu1680Asp | |
| XM_017023618.1:c.3786G>C | XP_016879107.1:p.Glu1262Asp | |
| XM_024450413.1:c.4875G>C | XP_024306181.1:p.Glu1625Asp | |
| NM_000548.5:c.5076G>C MANE Select | NP_000539.2:p.Glu1692Asp | |
| NM_001370404.1:c.4944G>C | NP_001357333.1:p.Glu1648Asp | |
| NM_001370405.1:c.4947G>C | NP_001357334.1:p.Glu1649Asp | |
| NM_001077183.3:c.4875G>C | NP_001070651.1:p.Glu1625Asp | |
| NM_001114382.3:c.5007G>C | NP_001107854.1:p.Glu1669Asp | |
| NM_001318827.2:c.4767G>C | NP_001305756.1:p.Glu1589Asp | |
| NM_001318829.2:c.4731G>C | NP_001305758.1:p.Glu1577Asp | |
| NM_001318831.2:c.4344G>C | NP_001305760.1:p.Glu1448Asp | |
| NM_001318832.2:c.4908G>C | NP_001305761.1:p.Glu1636Asp | |
| NM_001363528.2:c.4878G>C | NP_001350457.1:p.Glu1626Asp | |
| NM_021055.3:c.4947G>C | NP_066399.2:p.Glu1649Asp |