Linked Data
ClinVar Variation Id:
238062
dbSNP Id:
rs147578602
ExAC:
16:2136340 C / T
gnomAD v2:
16-2136340-C-T
gnomAD v3:
16-2086339-C-T
gnomAD v4:
16-2086339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086339C>T , CM000678.2:g.2086339C>T | GRCh38 |
| NC_000016.9:g.2136340C>T , CM000678.1:g.2136340C>T | GRCh37 |
| NC_000016.8:g.2076341C>T | NCBI36 |
| NG_005895.1:g.42034C>T , LRG_487:g.42034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3158C>T | ENSP00000455997.2:n.*3158C>T | |
| ENST00000642206.2:c.4656C>T | ENSP00000495146.2:p.Asp1552= | |
| ENST00000642365.2:c.4806C>T | ENSP00000495459.2:p.Asp1602= | |
| ENST00000644417.2:c.*5322C>T | ENSP00000493912.2:n.*5322C>T | |
| ENST00000646464.2:c.*7558C>T | ENSP00000496610.2:n.*7558C>T | |
| ENST00000219476.9:c.4809C>T MANE Select | ENSP00000219476.3:p.Asp1603= | |
| ENST00000350773.9:c.4740C>T | ENSP00000344383.4:p.Asp1580= | |
| ENST00000401874.7:c.4608C>T | ENSP00000384468.2:p.Asp1536= | |
| ENST00000568454.6:c.4641C>T | ENSP00000454487.1:p.Asp1547= | |
| ENST00000569110.2:c.1032C>T | ||
| ENST00000569930.2:n.2691C>T | ||
| ENST00000642365.1:c.3463C>T | ||
| ENST00000642561.1:c.4680C>T | ENSP00000495099.1:p.Asp1560= | |
| ENST00000642728.1:n.991C>T | ||
| ENST00000642791.1:n.406C>T | ||
| ENST00000642797.1:c.4611C>T | ENSP00000493846.1:p.Asp1537= | |
| ENST00000642936.1:c.4677C>T | ENSP00000494514.1:p.Asp1559= | |
| ENST00000643088.1:c.4602C>T | ENSP00000494747.1:p.Asp1534= | |
| ENST00000643177.1:n.823C>T | ||
| ENST00000643426.1:n.2457C>T | ||
| ENST00000643946.1:c.4734C>T | ENSP00000495927.1:p.Asp1578= | |
| ENST00000644043.1:c.4680C>T | ENSP00000496262.1:p.Asp1560= | |
| ENST00000644278.1:n.291C>T | ||
| ENST00000644329.1:c.4608C>T | ENSP00000496611.1:p.Asp1536= | |
| ENST00000644335.1:c.4605C>T | ENSP00000496317.1:p.Asp1535= | |
| ENST00000644399.1:c.4730C>T | ||
| ENST00000645024.1:n.2893C>T | ||
| ENST00000646388.1:c.4803C>T | ENSP00000495921.1:p.Asp1601= | |
| ENST00000646634.1:n.3624C>T | ||
| ENST00000646674.1:n.2061C>T | ||
| ENST00000647042.1:n.2032C>T | ||
| ENST00000647180.1:n.1922C>T | ||
| ENST00000219476.7:c.4809C>T | ENSP00000219476.3:p.Asp1603= | |
| ENST00000350773.8:c.4740C>T | ENSP00000344383.4:p.Asp1580= | |
| ENST00000382538.10:c.4464C>T | ENSP00000371978.6:p.Asp1488= | |
| ENST00000401874.6:c.4608C>T | ENSP00000384468.2:p.Asp1536= | |
| ENST00000439117.6:c.*3976C>T | ENSP00000406980.2:n.*3976C>T | |
| ENST00000439673.6:c.4500C>T | ENSP00000399232.2:p.Asp1500= | |
| ENST00000497886.5:n.2567C>T | ||
| ENST00000568454.5:c.4641C>T | ENSP00000454487.1:p.Asp1547= | |
| ENST00000569110.1:c.991C>T | ||
| ENST00000569930.1:n.1924C>T | ||
| NM_000548.3:c.4809C>T , LRG_487t1:c.4809C>T | NP_000539.2:p.Asp1603= | |
| NM_001077183.1:c.4608C>T | NP_001070651.1:p.Asp1536= | |
| NM_001114382.1:c.4740C>T | NP_001107854.1:p.Asp1580= | |
| XM_005255529.3:c.4680C>T | XP_005255586.2:p.Asp1560= | |
| XM_005255531.3:c.4611C>T | XP_005255588.2:p.Asp1537= | |
| XM_011522636.1:c.4863C>T | XP_011520938.1:p.Asp1621= | |
| XM_011522637.1:c.4860C>T | XP_011520939.1:p.Asp1620= | |
| XM_011522638.1:c.4752C>T | XP_011520940.1:p.Asp1584= | |
| XM_011522639.1:c.4734C>T | XP_011520941.1:p.Asp1578= | |
| XM_011522640.1:c.4731C>T | XP_011520942.1:p.Asp1577= | |
| XM_011522641.1:c.4500C>T | XP_011520943.1:p.Asp1500= | |
| NM_000548.4:c.4809C>T | NP_000539.2:p.Asp1603= | |
| NM_001077183.2:c.4608C>T | NP_001070651.1:p.Asp1536= | |
| NM_001114382.2:c.4740C>T | NP_001107854.1:p.Asp1580= | |
| NM_001318827.1:c.4500C>T | NP_001305756.1:p.Asp1500= | |
| NM_001318829.1:c.4464C>T | NP_001305758.1:p.Asp1488= | |
| NM_001318831.1:c.4077C>T | NP_001305760.1:p.Asp1359= | |
| NM_001318832.1:c.4641C>T | NP_001305761.1:p.Asp1547= | |
| NM_001363528.1:c.4611C>T | NP_001350457.1:p.Asp1537= | |
| NM_021055.2:c.4680C>T | NP_066399.2:p.Asp1560= | |
| XM_005255531.4:c.4611C>T | XP_005255588.2:p.Asp1537= | |
| XM_011522636.2:c.4863C>T | XP_011520938.1:p.Asp1621= | |
| XM_011522637.2:c.4860C>T | XP_011520939.1:p.Asp1620= | |
| XM_011522638.2:c.5025C>T | XP_011520940.2:p.Asp1675= | |
| XM_011522639.2:c.4734C>T | XP_011520941.1:p.Asp1578= | |
| XM_011522640.2:c.4731C>T | XP_011520942.1:p.Asp1577= | |
| XM_017023615.1:c.4806C>T | XP_016879104.1:p.Asp1602= | |
| XM_017023616.1:c.4677C>T | XP_016879105.1:p.Asp1559= | |
| XM_017023617.1:c.4773C>T | XP_016879106.1:p.Asp1591= | |
| XM_017023618.1:c.3519C>T | XP_016879107.1:p.Asp1173= | |
| XM_024450413.1:c.4608C>T | XP_024306181.1:p.Asp1536= | |
| NM_000548.5:c.4809C>T MANE Select | NP_000539.2:p.Asp1603= | |
| NM_001370404.1:c.4677C>T | NP_001357333.1:p.Asp1559= | |
| NM_001370405.1:c.4680C>T | NP_001357334.1:p.Asp1560= | |
| NM_001077183.3:c.4608C>T | NP_001070651.1:p.Asp1536= | |
| NM_001114382.3:c.4740C>T | NP_001107854.1:p.Asp1580= | |
| NM_001318827.2:c.4500C>T | NP_001305756.1:p.Asp1500= | |
| NM_001318829.2:c.4464C>T | NP_001305758.1:p.Asp1488= | |
| NM_001318831.2:c.4077C>T | NP_001305760.1:p.Asp1359= | |
| NM_001318832.2:c.4641C>T | NP_001305761.1:p.Asp1547= | |
| NM_001363528.2:c.4611C>T | NP_001350457.1:p.Asp1537= | |
| NM_021055.3:c.4680C>T | NP_066399.2:p.Asp1560= |