Linked Data
ClinVar Variation Id:
49972
dbSNP Id:
rs137854152
gnomAD v2:
16-2136770-C-T
gnomAD v3:
16-2086769-C-T
gnomAD v4:
16-2086769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086769C>T , CM000678.2:g.2086769C>T | GRCh38 |
| NC_000016.9:g.2136770C>T , CM000678.1:g.2136770C>T | GRCh37 |
| NC_000016.8:g.2076771C>T | NCBI36 |
| NG_005895.1:g.42464C>T , LRG_487:g.42464C>T | |
| NG_008617.1:g.56452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3236C>T | ENSP00000455997.2:n.*3236C>T | |
| ENST00000642206.2:c.4734C>T | ENSP00000495146.2:p.Asp1578= | |
| ENST00000642365.2:c.4884C>T | ENSP00000495459.2:p.Asp1628= | |
| ENST00000644417.2:c.*5400C>T | ENSP00000493912.2:n.*5400C>T | |
| ENST00000646464.2:c.*7636C>T | ENSP00000496610.2:n.*7636C>T | |
| ENST00000219476.9:c.4887C>T MANE Select | ENSP00000219476.3:p.Asp1629= | |
| ENST00000350773.9:c.4818C>T | ENSP00000344383.4:p.Asp1606= | |
| ENST00000401874.7:c.4686C>T | ENSP00000384468.2:p.Asp1562= | |
| ENST00000568454.6:c.4719C>T | ENSP00000454487.1:p.Asp1573= | |
| ENST00000569110.2:c.1110C>T | ||
| ENST00000569930.2:n.2769C>T | ||
| ENST00000642365.1:c.3541C>T | ||
| ENST00000642561.1:c.4758C>T | ENSP00000495099.1:p.Asp1586= | |
| ENST00000642728.1:n.1069C>T | ||
| ENST00000642791.1:n.484C>T | ||
| ENST00000642797.1:c.4689C>T | ENSP00000493846.1:p.Asp1563= | |
| ENST00000642936.1:c.4755C>T | ENSP00000494514.1:p.Asp1585= | |
| ENST00000643088.1:c.4680C>T | ENSP00000494747.1:p.Asp1560= | |
| ENST00000643177.1:n.901C>T | ||
| ENST00000643426.1:n.2535C>T | ||
| ENST00000643946.1:c.4812C>T | ENSP00000495927.1:p.Asp1604= | |
| ENST00000644043.1:c.4758C>T | ENSP00000496262.1:p.Asp1586= | |
| ENST00000644278.1:n.369C>T | ||
| ENST00000644329.1:c.4686C>T | ENSP00000496611.1:p.Asp1562= | |
| ENST00000644335.1:c.4683C>T | ENSP00000496317.1:p.Asp1561= | |
| ENST00000644399.1:c.4808C>T | ||
| ENST00000645024.1:n.2971C>T | ||
| ENST00000646388.1:c.4881C>T | ENSP00000495921.1:p.Asp1627= | |
| ENST00000646557.1:n.48C>T | ||
| ENST00000646634.1:n.3702C>T | ||
| ENST00000646674.1:n.2139C>T | ||
| ENST00000647042.1:n.2110C>T | ||
| ENST00000647180.1:n.2000C>T | ||
| ENST00000219476.7:c.4887C>T | ENSP00000219476.3:p.Asp1629= | |
| ENST00000350773.8:c.4818C>T | ENSP00000344383.4:p.Asp1606= | |
| ENST00000382538.10:c.4542C>T | ENSP00000371978.6:p.Asp1514= | |
| ENST00000401874.6:c.4686C>T | ENSP00000384468.2:p.Asp1562= | |
| ENST00000439117.6:c.*4054C>T | ENSP00000406980.2:n.*4054C>T | |
| ENST00000439673.6:c.4578C>T | ENSP00000399232.2:p.Asp1526= | |
| ENST00000497886.5:n.2610C>T | ||
| ENST00000568454.5:c.4719C>T | ENSP00000454487.1:p.Asp1573= | |
| ENST00000569110.1:c.1069C>T | ||
| ENST00000569930.1:n.2002C>T | ||
| NM_000548.3:c.4887C>T , LRG_487t1:c.4887C>T | NP_000539.2:p.Asp1629= | |
| NM_001077183.1:c.4686C>T | NP_001070651.1:p.Asp1562= | |
| NM_001114382.1:c.4818C>T | NP_001107854.1:p.Asp1606= | |
| XM_005255529.3:c.4758C>T | XP_005255586.2:p.Asp1586= | |
| XM_005255531.3:c.4689C>T | XP_005255588.2:p.Asp1563= | |
| XM_011522636.1:c.4941C>T | XP_011520938.1:p.Asp1647= | |
| XM_011522637.1:c.4938C>T | XP_011520939.1:p.Asp1646= | |
| XM_011522638.1:c.4830C>T | XP_011520940.1:p.Asp1610= | |
| XM_011522639.1:c.4812C>T | XP_011520941.1:p.Asp1604= | |
| XM_011522640.1:c.4809C>T | XP_011520942.1:p.Asp1603= | |
| XM_011522641.1:c.4578C>T | XP_011520943.1:p.Asp1526= | |
| NM_000548.4:c.4887C>T | NP_000539.2:p.Asp1629= | |
| NM_001077183.2:c.4686C>T | NP_001070651.1:p.Asp1562= | |
| NM_001114382.2:c.4818C>T | NP_001107854.1:p.Asp1606= | |
| NM_001318827.1:c.4578C>T | NP_001305756.1:p.Asp1526= | |
| NM_001318829.1:c.4542C>T | NP_001305758.1:p.Asp1514= | |
| NM_001318831.1:c.4155C>T | NP_001305760.1:p.Asp1385= | |
| NM_001318832.1:c.4719C>T | NP_001305761.1:p.Asp1573= | |
| NM_001363528.1:c.4689C>T | NP_001350457.1:p.Asp1563= | |
| NM_021055.2:c.4758C>T | NP_066399.2:p.Asp1586= | |
| XM_005255531.4:c.4689C>T | XP_005255588.2:p.Asp1563= | |
| XM_011522636.2:c.4941C>T | XP_011520938.1:p.Asp1647= | |
| XM_011522637.2:c.4938C>T | XP_011520939.1:p.Asp1646= | |
| XM_011522638.2:c.5103C>T | XP_011520940.2:p.Asp1701= | |
| XM_011522639.2:c.4812C>T | XP_011520941.1:p.Asp1604= | |
| XM_011522640.2:c.4809C>T | XP_011520942.1:p.Asp1603= | |
| XM_017023615.1:c.4884C>T | XP_016879104.1:p.Asp1628= | |
| XM_017023616.1:c.4755C>T | XP_016879105.1:p.Asp1585= | |
| XM_017023617.1:c.4851C>T | XP_016879106.1:p.Asp1617= | |
| XM_017023618.1:c.3597C>T | XP_016879107.1:p.Asp1199= | |
| XM_024450413.1:c.4686C>T | XP_024306181.1:p.Asp1562= | |
| NM_000548.5:c.4887C>T MANE Select | NP_000539.2:p.Asp1629= | |
| NM_001370404.1:c.4755C>T | NP_001357333.1:p.Asp1585= | |
| NM_001370405.1:c.4758C>T | NP_001357334.1:p.Asp1586= | |
| NM_001077183.3:c.4686C>T | NP_001070651.1:p.Asp1562= | |
| NM_001114382.3:c.4818C>T | NP_001107854.1:p.Asp1606= | |
| NM_001318827.2:c.4578C>T | NP_001305756.1:p.Asp1526= | |
| NM_001318829.2:c.4542C>T | NP_001305758.1:p.Asp1514= | |
| NM_001318831.2:c.4155C>T | NP_001305760.1:p.Asp1385= | |
| NM_001318832.2:c.4719C>T | NP_001305761.1:p.Asp1573= | |
| NM_001363528.2:c.4689C>T | NP_001350457.1:p.Asp1563= | |
| NM_021055.3:c.4758C>T | NP_066399.2:p.Asp1586= |