Linked Data
ClinVar Variation Id:
406096
dbSNP Id:
rs377377367
ExAC:
16:2135251 G / A
gnomAD v2:
16-2135251-G-A
gnomAD v3:
16-2085250-G-A
gnomAD v4:
16-2085250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085250G>A , CM000678.2:g.2085250G>A | GRCh38 |
| NC_000016.9:g.2135251G>A , CM000678.1:g.2135251G>A | GRCh37 |
| NC_000016.8:g.2075252G>A | NCBI36 |
| NG_005895.1:g.40945G>A , LRG_487:g.40945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2939G>A | ENSP00000455997.2:n.*2939G>A | |
| ENST00000642206.2:c.4437G>A | ENSP00000495146.2:p.Ser1479= | |
| ENST00000642365.2:c.4587G>A | ENSP00000495459.2:p.Ser1529= | |
| ENST00000644417.2:c.*4970G>A | ENSP00000493912.2:n.*4970G>A | |
| ENST00000646464.2:c.*7339G>A | ENSP00000496610.2:n.*7339G>A | |
| ENST00000219476.9:c.4590G>A MANE Select | ENSP00000219476.3:p.Ser1530= | |
| ENST00000350773.9:c.4521G>A | ENSP00000344383.4:p.Ser1507= | |
| ENST00000401874.7:c.4389G>A | ENSP00000384468.2:p.Ser1463= | |
| ENST00000568454.6:c.4422G>A | ENSP00000454487.1:p.Ser1474= | |
| ENST00000569110.2:c.813G>A | ||
| ENST00000569930.2:n.2472G>A | ||
| ENST00000642365.1:c.3244G>A | ||
| ENST00000642561.1:c.4461G>A | ENSP00000495099.1:p.Ser1487= | |
| ENST00000642728.1:n.772G>A | ||
| ENST00000642791.1:n.187G>A | ||
| ENST00000642797.1:c.4392G>A | ENSP00000493846.1:p.Ser1464= | |
| ENST00000642936.1:c.4458G>A | ENSP00000494514.1:p.Ser1486= | |
| ENST00000643088.1:c.4383G>A | ENSP00000494747.1:p.Ser1461= | |
| ENST00000643177.1:n.604G>A | ||
| ENST00000643426.1:n.2238G>A | ||
| ENST00000643946.1:c.4515G>A | ENSP00000495927.1:p.Ser1505= | |
| ENST00000644043.1:c.4461G>A | ENSP00000496262.1:p.Ser1487= | |
| ENST00000644278.1:n.72G>A | ||
| ENST00000644329.1:c.4389G>A | ENSP00000496611.1:p.Ser1463= | |
| ENST00000644335.1:c.4386G>A | ENSP00000496317.1:p.Ser1462= | |
| ENST00000644399.1:c.4511G>A | ||
| ENST00000645024.1:n.2674G>A | ||
| ENST00000646388.1:c.4584G>A | ENSP00000495921.1:p.Ser1528= | |
| ENST00000646634.1:n.3405G>A | ||
| ENST00000646674.1:n.1842G>A | ||
| ENST00000647042.1:n.1813G>A | ||
| ENST00000647180.1:n.1703G>A | ||
| ENST00000219476.7:c.4590G>A | ENSP00000219476.3:p.Ser1530= | |
| ENST00000350773.8:c.4521G>A | ENSP00000344383.4:p.Ser1507= | |
| ENST00000382538.10:c.4245G>A | ENSP00000371978.6:p.Ser1415= | |
| ENST00000401874.6:c.4389G>A | ENSP00000384468.2:p.Ser1463= | |
| ENST00000439117.6:c.*3757G>A | ENSP00000406980.2:n.*3757G>A | |
| ENST00000439673.6:c.4281G>A | ENSP00000399232.2:p.Ser1427= | |
| ENST00000497886.5:n.2348G>A | ||
| ENST00000568454.5:c.4422G>A | ENSP00000454487.1:p.Ser1474= | |
| ENST00000569110.1:c.772G>A | ||
| ENST00000569930.1:n.1705G>A | ||
| NM_000548.3:c.4590G>A , LRG_487t1:c.4590G>A | NP_000539.2:p.Ser1530= | |
| NM_001077183.1:c.4389G>A | NP_001070651.1:p.Ser1463= | |
| NM_001114382.1:c.4521G>A | NP_001107854.1:p.Ser1507= | |
| XM_005255529.3:c.4461G>A | XP_005255586.2:p.Ser1487= | |
| XM_005255531.3:c.4392G>A | XP_005255588.2:p.Ser1464= | |
| XM_011522636.1:c.4644G>A | XP_011520938.1:p.Ser1548= | |
| XM_011522637.1:c.4641G>A | XP_011520939.1:p.Ser1547= | |
| XM_011522638.1:c.4533G>A | XP_011520940.1:p.Ser1511= | |
| XM_011522639.1:c.4515G>A | XP_011520941.1:p.Ser1505= | |
| XM_011522640.1:c.4512G>A | XP_011520942.1:p.Ser1504= | |
| XM_011522641.1:c.4281G>A | XP_011520943.1:p.Ser1427= | |
| NM_000548.4:c.4590G>A | NP_000539.2:p.Ser1530= | |
| NM_001077183.2:c.4389G>A | NP_001070651.1:p.Ser1463= | |
| NM_001114382.2:c.4521G>A | NP_001107854.1:p.Ser1507= | |
| NM_001318827.1:c.4281G>A | NP_001305756.1:p.Ser1427= | |
| NM_001318829.1:c.4245G>A | NP_001305758.1:p.Ser1415= | |
| NM_001318831.1:c.3858G>A | NP_001305760.1:p.Ser1286= | |
| NM_001318832.1:c.4422G>A | NP_001305761.1:p.Ser1474= | |
| NM_001363528.1:c.4392G>A | NP_001350457.1:p.Ser1464= | |
| NM_021055.2:c.4461G>A | NP_066399.2:p.Ser1487= | |
| XM_005255531.4:c.4392G>A | XP_005255588.2:p.Ser1464= | |
| XM_011522636.2:c.4644G>A | XP_011520938.1:p.Ser1548= | |
| XM_011522637.2:c.4641G>A | XP_011520939.1:p.Ser1547= | |
| XM_011522638.2:c.4806G>A | XP_011520940.2:p.Ser1602= | |
| XM_011522639.2:c.4515G>A | XP_011520941.1:p.Ser1505= | |
| XM_011522640.2:c.4512G>A | XP_011520942.1:p.Ser1504= | |
| XM_017023615.1:c.4587G>A | XP_016879104.1:p.Ser1529= | |
| XM_017023616.1:c.4458G>A | XP_016879105.1:p.Ser1486= | |
| XM_017023617.1:c.4554G>A | XP_016879106.1:p.Ser1518= | |
| XM_017023618.1:c.3300G>A | XP_016879107.1:p.Ser1100= | |
| XM_024450413.1:c.4389G>A | XP_024306181.1:p.Ser1463= | |
| NM_000548.5:c.4590G>A MANE Select | NP_000539.2:p.Ser1530= | |
| NM_001370404.1:c.4458G>A | NP_001357333.1:p.Ser1486= | |
| NM_001370405.1:c.4461G>A | NP_001357334.1:p.Ser1487= | |
| NM_001077183.3:c.4389G>A | NP_001070651.1:p.Ser1463= | |
| NM_001114382.3:c.4521G>A | NP_001107854.1:p.Ser1507= | |
| NM_001318827.2:c.4281G>A | NP_001305756.1:p.Ser1427= | |
| NM_001318829.2:c.4245G>A | NP_001305758.1:p.Ser1415= | |
| NM_001318831.2:c.3858G>A | NP_001305760.1:p.Ser1286= | |
| NM_001318832.2:c.4422G>A | NP_001305761.1:p.Ser1474= | |
| NM_001363528.2:c.4392G>A | NP_001350457.1:p.Ser1464= | |
| NM_021055.3:c.4461G>A | NP_066399.2:p.Ser1487= |