Linked Data
ClinVar Variation Id:
468118
dbSNP Id:
rs749501410
ExAC:
16:2136750 A / T
gnomAD v2:
16-2136750-A-T
gnomAD v3:
16-2086749-A-T
gnomAD v4:
16-2086749-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086749A>T , CM000678.2:g.2086749A>T | GRCh38 |
| NC_000016.9:g.2136750A>T , CM000678.1:g.2136750A>T | GRCh37 |
| NC_000016.8:g.2076751A>T | NCBI36 |
| NG_005895.1:g.42444A>T , LRG_487:g.42444A>T | |
| NG_008617.1:g.56472T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3216A>T | ENSP00000455997.2:n.*3216A>T | |
| ENST00000642206.2:c.4714A>T | ENSP00000495146.2:p.Thr1572Ser | |
| ENST00000642365.2:c.4864A>T | ENSP00000495459.2:p.Thr1622Ser | |
| ENST00000644417.2:c.*5380A>T | ENSP00000493912.2:n.*5380A>T | |
| ENST00000646464.2:c.*7616A>T | ENSP00000496610.2:n.*7616A>T | |
| ENST00000219476.9:c.4867A>T MANE Select | ENSP00000219476.3:p.Thr1623Ser | |
| ENST00000350773.9:c.4798A>T | ENSP00000344383.4:p.Thr1600Ser | |
| ENST00000401874.7:c.4666A>T | ENSP00000384468.2:p.Thr1556Ser | |
| ENST00000568454.6:c.4699A>T | ENSP00000454487.1:p.Thr1567Ser | |
| ENST00000569110.2:c.1090A>T | ||
| ENST00000569930.2:n.2749A>T | ||
| ENST00000642365.1:c.3521A>T | ||
| ENST00000642561.1:c.4738A>T | ENSP00000495099.1:p.Thr1580Ser | |
| ENST00000642728.1:n.1049A>T | ||
| ENST00000642791.1:n.464A>T | ||
| ENST00000642797.1:c.4669A>T | ENSP00000493846.1:p.Thr1557Ser | |
| ENST00000642936.1:c.4735A>T | ENSP00000494514.1:p.Thr1579Ser | |
| ENST00000643088.1:c.4660A>T | ENSP00000494747.1:p.Thr1554Ser | |
| ENST00000643177.1:n.881A>T | ||
| ENST00000643426.1:n.2515A>T | ||
| ENST00000643946.1:c.4792A>T | ENSP00000495927.1:p.Thr1598Ser | |
| ENST00000644043.1:c.4738A>T | ENSP00000496262.1:p.Thr1580Ser | |
| ENST00000644278.1:n.349A>T | ||
| ENST00000644329.1:c.4666A>T | ENSP00000496611.1:p.Thr1556Ser | |
| ENST00000644335.1:c.4663A>T | ENSP00000496317.1:p.Thr1555Ser | |
| ENST00000644399.1:c.4788A>T | ||
| ENST00000645024.1:n.2951A>T | ||
| ENST00000646388.1:c.4861A>T | ENSP00000495921.1:p.Thr1621Ser | |
| ENST00000646557.1:n.28A>T | ||
| ENST00000646634.1:n.3682A>T | ||
| ENST00000646674.1:n.2119A>T | ||
| ENST00000647042.1:n.2090A>T | ||
| ENST00000647180.1:n.1980A>T | ||
| ENST00000219476.7:c.4867A>T | ENSP00000219476.3:p.Thr1623Ser | |
| ENST00000350773.8:c.4798A>T | ENSP00000344383.4:p.Thr1600Ser | |
| ENST00000382538.10:c.4522A>T | ENSP00000371978.6:p.Thr1508Ser | |
| ENST00000401874.6:c.4666A>T | ENSP00000384468.2:p.Thr1556Ser | |
| ENST00000439117.6:c.*4034A>T | ENSP00000406980.2:n.*4034A>T | |
| ENST00000439673.6:c.4558A>T | ENSP00000399232.2:p.Thr1520Ser | |
| ENST00000497886.5:n.2608-18A>T | ||
| ENST00000568454.5:c.4699A>T | ENSP00000454487.1:p.Thr1567Ser | |
| ENST00000569110.1:c.1049A>T | ||
| ENST00000569930.1:n.1982A>T | ||
| NM_000548.3:c.4867A>T , LRG_487t1:c.4867A>T | NP_000539.2:p.Thr1623Ser | |
| NM_001077183.1:c.4666A>T | NP_001070651.1:p.Thr1556Ser | |
| NM_001114382.1:c.4798A>T | NP_001107854.1:p.Thr1600Ser | |
| XM_005255529.3:c.4738A>T | XP_005255586.2:p.Thr1580Ser | |
| XM_005255531.3:c.4669A>T | XP_005255588.2:p.Thr1557Ser | |
| XM_011522636.1:c.4921A>T | XP_011520938.1:p.Thr1641Ser | |
| XM_011522637.1:c.4918A>T | XP_011520939.1:p.Thr1640Ser | |
| XM_011522638.1:c.4810A>T | XP_011520940.1:p.Thr1604Ser | |
| XM_011522639.1:c.4792A>T | XP_011520941.1:p.Thr1598Ser | |
| XM_011522640.1:c.4789A>T | XP_011520942.1:p.Thr1597Ser | |
| XM_011522641.1:c.4558A>T | XP_011520943.1:p.Thr1520Ser | |
| NM_000548.4:c.4867A>T | NP_000539.2:p.Thr1623Ser | |
| NM_001077183.2:c.4666A>T | NP_001070651.1:p.Thr1556Ser | |
| NM_001114382.2:c.4798A>T | NP_001107854.1:p.Thr1600Ser | |
| NM_001318827.1:c.4558A>T | NP_001305756.1:p.Thr1520Ser | |
| NM_001318829.1:c.4522A>T | NP_001305758.1:p.Thr1508Ser | |
| NM_001318831.1:c.4135A>T | NP_001305760.1:p.Thr1379Ser | |
| NM_001318832.1:c.4699A>T | NP_001305761.1:p.Thr1567Ser | |
| NM_001363528.1:c.4669A>T | NP_001350457.1:p.Thr1557Ser | |
| NM_021055.2:c.4738A>T | NP_066399.2:p.Thr1580Ser | |
| XM_005255531.4:c.4669A>T | XP_005255588.2:p.Thr1557Ser | |
| XM_011522636.2:c.4921A>T | XP_011520938.1:p.Thr1641Ser | |
| XM_011522637.2:c.4918A>T | XP_011520939.1:p.Thr1640Ser | |
| XM_011522638.2:c.5083A>T | XP_011520940.2:p.Thr1695Ser | |
| XM_011522639.2:c.4792A>T | XP_011520941.1:p.Thr1598Ser | |
| XM_011522640.2:c.4789A>T | XP_011520942.1:p.Thr1597Ser | |
| XM_017023615.1:c.4864A>T | XP_016879104.1:p.Thr1622Ser | |
| XM_017023616.1:c.4735A>T | XP_016879105.1:p.Thr1579Ser | |
| XM_017023617.1:c.4831A>T | XP_016879106.1:p.Thr1611Ser | |
| XM_017023618.1:c.3577A>T | XP_016879107.1:p.Thr1193Ser | |
| XM_024450413.1:c.4666A>T | XP_024306181.1:p.Thr1556Ser | |
| NM_000548.5:c.4867A>T MANE Select | NP_000539.2:p.Thr1623Ser | |
| NM_001370404.1:c.4735A>T | NP_001357333.1:p.Thr1579Ser | |
| NM_001370405.1:c.4738A>T | NP_001357334.1:p.Thr1580Ser | |
| NM_001077183.3:c.4666A>T | NP_001070651.1:p.Thr1556Ser | |
| NM_001114382.3:c.4798A>T | NP_001107854.1:p.Thr1600Ser | |
| NM_001318827.2:c.4558A>T | NP_001305756.1:p.Thr1520Ser | |
| NM_001318829.2:c.4522A>T | NP_001305758.1:p.Thr1508Ser | |
| NM_001318831.2:c.4135A>T | NP_001305760.1:p.Thr1379Ser | |
| NM_001318832.2:c.4699A>T | NP_001305761.1:p.Thr1567Ser | |
| NM_001363528.2:c.4669A>T | NP_001350457.1:p.Thr1557Ser | |
| NM_021055.3:c.4738A>T | NP_066399.2:p.Thr1580Ser |