Linked Data
ClinVar Variation Id:
238066
dbSNP Id:
rs377129517
ExAC:
16:2136735 G / A
gnomAD v2:
16-2136735-G-A
gnomAD v3:
16-2086734-G-A
gnomAD v4:
16-2086734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086734G>A , CM000678.2:g.2086734G>A | GRCh38 |
| NC_000016.9:g.2136735G>A , CM000678.1:g.2136735G>A | GRCh37 |
| NC_000016.8:g.2076736G>A | NCBI36 |
| NG_005895.1:g.42429G>A , LRG_487:g.42429G>A | |
| NG_008617.1:g.56487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3201G>A | ENSP00000455997.2:n.*3201G>A | |
| ENST00000642206.2:c.4699G>A | ENSP00000495146.2:p.Val1567Ile | |
| ENST00000642365.2:c.4849G>A | ENSP00000495459.2:p.Val1617Ile | |
| ENST00000644417.2:c.*5365G>A | ENSP00000493912.2:n.*5365G>A | |
| ENST00000646464.2:c.*7601G>A | ENSP00000496610.2:n.*7601G>A | |
| ENST00000219476.9:c.4852G>A MANE Select | ENSP00000219476.3:p.Val1618Ile | |
| ENST00000350773.9:c.4783G>A | ENSP00000344383.4:p.Val1595Ile | |
| ENST00000401874.7:c.4651G>A | ENSP00000384468.2:p.Val1551Ile | |
| ENST00000568454.6:c.4684G>A | ENSP00000454487.1:p.Val1562Ile | |
| ENST00000569110.2:c.1075G>A | ||
| ENST00000569930.2:n.2734G>A | ||
| ENST00000642365.1:c.3506G>A | ||
| ENST00000642561.1:c.4723G>A | ENSP00000495099.1:p.Val1575Ile | |
| ENST00000642728.1:n.1034G>A | ||
| ENST00000642791.1:n.449G>A | ||
| ENST00000642797.1:c.4654G>A | ENSP00000493846.1:p.Val1552Ile | |
| ENST00000642936.1:c.4720G>A | ENSP00000494514.1:p.Val1574Ile | |
| ENST00000643088.1:c.4645G>A | ENSP00000494747.1:p.Val1549Ile | |
| ENST00000643177.1:n.866G>A | ||
| ENST00000643426.1:n.2500G>A | ||
| ENST00000643946.1:c.4777G>A | ENSP00000495927.1:p.Val1593Ile | |
| ENST00000644043.1:c.4723G>A | ENSP00000496262.1:p.Val1575Ile | |
| ENST00000644278.1:n.334G>A | ||
| ENST00000644329.1:c.4651G>A | ENSP00000496611.1:p.Val1551Ile | |
| ENST00000644335.1:c.4648G>A | ENSP00000496317.1:p.Val1550Ile | |
| ENST00000644399.1:c.4773G>A | ||
| ENST00000645024.1:n.2936G>A | ||
| ENST00000646388.1:c.4846G>A | ENSP00000495921.1:p.Val1616Ile | |
| ENST00000646557.1:n.13G>A | ||
| ENST00000646634.1:n.3667G>A | ||
| ENST00000646674.1:n.2104G>A | ||
| ENST00000647042.1:n.2075G>A | ||
| ENST00000647180.1:n.1965G>A | ||
| ENST00000219476.7:c.4852G>A | ENSP00000219476.3:p.Val1618Ile | |
| ENST00000350773.8:c.4783G>A | ENSP00000344383.4:p.Val1595Ile | |
| ENST00000382538.10:c.4507G>A | ENSP00000371978.6:p.Val1503Ile | |
| ENST00000401874.6:c.4651G>A | ENSP00000384468.2:p.Val1551Ile | |
| ENST00000439117.6:c.*4019G>A | ENSP00000406980.2:n.*4019G>A | |
| ENST00000439673.6:c.4543G>A | ENSP00000399232.2:p.Val1515Ile | |
| ENST00000497886.5:n.2608-33G>A | ||
| ENST00000568454.5:c.4684G>A | ENSP00000454487.1:p.Val1562Ile | |
| ENST00000569110.1:c.1034G>A | ||
| ENST00000569930.1:n.1967G>A | ||
| NM_000548.3:c.4852G>A , LRG_487t1:c.4852G>A | NP_000539.2:p.Val1618Ile | |
| NM_001077183.1:c.4651G>A | NP_001070651.1:p.Val1551Ile | |
| NM_001114382.1:c.4783G>A | NP_001107854.1:p.Val1595Ile | |
| XM_005255529.3:c.4723G>A | XP_005255586.2:p.Val1575Ile | |
| XM_005255531.3:c.4654G>A | XP_005255588.2:p.Val1552Ile | |
| XM_011522636.1:c.4906G>A | XP_011520938.1:p.Val1636Ile | |
| XM_011522637.1:c.4903G>A | XP_011520939.1:p.Val1635Ile | |
| XM_011522638.1:c.4795G>A | XP_011520940.1:p.Val1599Ile | |
| XM_011522639.1:c.4777G>A | XP_011520941.1:p.Val1593Ile | |
| XM_011522640.1:c.4774G>A | XP_011520942.1:p.Val1592Ile | |
| XM_011522641.1:c.4543G>A | XP_011520943.1:p.Val1515Ile | |
| NM_000548.4:c.4852G>A | NP_000539.2:p.Val1618Ile | |
| NM_001077183.2:c.4651G>A | NP_001070651.1:p.Val1551Ile | |
| NM_001114382.2:c.4783G>A | NP_001107854.1:p.Val1595Ile | |
| NM_001318827.1:c.4543G>A | NP_001305756.1:p.Val1515Ile | |
| NM_001318829.1:c.4507G>A | NP_001305758.1:p.Val1503Ile | |
| NM_001318831.1:c.4120G>A | NP_001305760.1:p.Val1374Ile | |
| NM_001318832.1:c.4684G>A | NP_001305761.1:p.Val1562Ile | |
| NM_001363528.1:c.4654G>A | NP_001350457.1:p.Val1552Ile | |
| NM_021055.2:c.4723G>A | NP_066399.2:p.Val1575Ile | |
| XM_005255531.4:c.4654G>A | XP_005255588.2:p.Val1552Ile | |
| XM_011522636.2:c.4906G>A | XP_011520938.1:p.Val1636Ile | |
| XM_011522637.2:c.4903G>A | XP_011520939.1:p.Val1635Ile | |
| XM_011522638.2:c.5068G>A | XP_011520940.2:p.Val1690Ile | |
| XM_011522639.2:c.4777G>A | XP_011520941.1:p.Val1593Ile | |
| XM_011522640.2:c.4774G>A | XP_011520942.1:p.Val1592Ile | |
| XM_017023615.1:c.4849G>A | XP_016879104.1:p.Val1617Ile | |
| XM_017023616.1:c.4720G>A | XP_016879105.1:p.Val1574Ile | |
| XM_017023617.1:c.4816G>A | XP_016879106.1:p.Val1606Ile | |
| XM_017023618.1:c.3562G>A | XP_016879107.1:p.Val1188Ile | |
| XM_024450413.1:c.4651G>A | XP_024306181.1:p.Val1551Ile | |
| NM_000548.5:c.4852G>A MANE Select | NP_000539.2:p.Val1618Ile | |
| NM_001370404.1:c.4720G>A | NP_001357333.1:p.Val1574Ile | |
| NM_001370405.1:c.4723G>A | NP_001357334.1:p.Val1575Ile | |
| NM_001077183.3:c.4651G>A | NP_001070651.1:p.Val1551Ile | |
| NM_001114382.3:c.4783G>A | NP_001107854.1:p.Val1595Ile | |
| NM_001318827.2:c.4543G>A | NP_001305756.1:p.Val1515Ile | |
| NM_001318829.2:c.4507G>A | NP_001305758.1:p.Val1503Ile | |
| NM_001318831.2:c.4120G>A | NP_001305760.1:p.Val1374Ile | |
| NM_001318832.2:c.4684G>A | NP_001305761.1:p.Val1562Ile | |
| NM_001363528.2:c.4654G>A | NP_001350457.1:p.Val1552Ile | |
| NM_021055.3:c.4723G>A | NP_066399.2:p.Val1575Ile |