Linked Data
ClinVar Variation Id:
238071
dbSNP Id:
rs878854112
gnomAD v2:
16-2136853-T-A
gnomAD v4:
16-2086852-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086852T>A , CM000678.2:g.2086852T>A | GRCh38 |
| NC_000016.9:g.2136853T>A , CM000678.1:g.2136853T>A | GRCh37 |
| NC_000016.8:g.2076854T>A | NCBI36 |
| NG_005895.1:g.42547T>A , LRG_487:g.42547T>A | |
| NG_008617.1:g.56369A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3319T>A | ENSP00000455997.2:n.*3319T>A | |
| ENST00000642206.2:c.4817T>A | ENSP00000495146.2:p.Phe1606Tyr | |
| ENST00000642365.2:c.4967T>A | ENSP00000495459.2:p.Phe1656Tyr | |
| ENST00000644417.2:c.*5483T>A | ENSP00000493912.2:n.*5483T>A | |
| ENST00000646464.2:c.*7719T>A | ENSP00000496610.2:n.*7719T>A | |
| ENST00000219476.9:c.4970T>A MANE Select | ENSP00000219476.3:p.Phe1657Tyr | |
| ENST00000350773.9:c.4901T>A | ENSP00000344383.4:p.Phe1634Tyr | |
| ENST00000401874.7:c.4769T>A | ENSP00000384468.2:p.Phe1590Tyr | |
| ENST00000568454.6:c.4802T>A | ENSP00000454487.1:p.Phe1601Tyr | |
| ENST00000569110.2:c.1193T>A | ||
| ENST00000569930.2:n.2852T>A | ||
| ENST00000642365.1:c.3624T>A | ||
| ENST00000642561.1:c.4841T>A | ENSP00000495099.1:p.Phe1614Tyr | |
| ENST00000642728.1:n.1152T>A | ||
| ENST00000642791.1:n.567T>A | ||
| ENST00000642797.1:c.4772T>A | ENSP00000493846.1:p.Phe1591Tyr | |
| ENST00000642936.1:c.4838T>A | ENSP00000494514.1:p.Phe1613Tyr | |
| ENST00000643088.1:c.4763T>A | ENSP00000494747.1:p.Phe1588Tyr | |
| ENST00000643177.1:n.984T>A | ||
| ENST00000643426.1:n.2618T>A | ||
| ENST00000643946.1:c.4895T>A | ENSP00000495927.1:p.Phe1632Tyr | |
| ENST00000644043.1:c.4841T>A | ENSP00000496262.1:p.Phe1614Tyr | |
| ENST00000644278.1:n.452T>A | ||
| ENST00000644329.1:c.4769T>A | ENSP00000496611.1:p.Phe1590Tyr | |
| ENST00000644335.1:c.4766T>A | ENSP00000496317.1:p.Phe1589Tyr | |
| ENST00000644399.1:c.4891T>A | ||
| ENST00000645024.1:n.3054T>A | ||
| ENST00000646388.1:c.4964T>A | ENSP00000495921.1:p.Phe1655Tyr | |
| ENST00000646557.1:n.131T>A | ||
| ENST00000646634.1:n.3785T>A | ||
| ENST00000646674.1:n.2222T>A | ||
| ENST00000647042.1:n.2193T>A | ||
| ENST00000647180.1:n.2083T>A | ||
| ENST00000219476.7:c.4970T>A | ENSP00000219476.3:p.Phe1657Tyr | |
| ENST00000350773.8:c.4901T>A | ENSP00000344383.4:p.Phe1634Tyr | |
| ENST00000382538.10:c.4625T>A | ENSP00000371978.6:p.Phe1542Tyr | |
| ENST00000401874.6:c.4769T>A | ENSP00000384468.2:p.Phe1590Tyr | |
| ENST00000439117.6:c.*4137T>A | ENSP00000406980.2:n.*4137T>A | |
| ENST00000439673.6:c.4661T>A | ENSP00000399232.2:p.Phe1554Tyr | |
| ENST00000497886.5:n.2693T>A | ||
| ENST00000568454.5:c.4802T>A | ENSP00000454487.1:p.Phe1601Tyr | |
| ENST00000569110.1:c.1152T>A | ||
| ENST00000569930.1:n.2085T>A | ||
| NM_000548.3:c.4970T>A , LRG_487t1:c.4970T>A | NP_000539.2:p.Phe1657Tyr | |
| NM_001077183.1:c.4769T>A | NP_001070651.1:p.Phe1590Tyr | |
| NM_001114382.1:c.4901T>A | NP_001107854.1:p.Phe1634Tyr | |
| XM_005255529.3:c.4841T>A | XP_005255586.2:p.Phe1614Tyr | |
| XM_005255531.3:c.4772T>A | XP_005255588.2:p.Phe1591Tyr | |
| XM_011522636.1:c.5024T>A | XP_011520938.1:p.Phe1675Tyr | |
| XM_011522637.1:c.5021T>A | XP_011520939.1:p.Phe1674Tyr | |
| XM_011522638.1:c.4913T>A | XP_011520940.1:p.Phe1638Tyr | |
| XM_011522639.1:c.4895T>A | XP_011520941.1:p.Phe1632Tyr | |
| XM_011522640.1:c.4892T>A | XP_011520942.1:p.Phe1631Tyr | |
| XM_011522641.1:c.4661T>A | XP_011520943.1:p.Phe1554Tyr | |
| NM_000548.4:c.4970T>A | NP_000539.2:p.Phe1657Tyr | |
| NM_001077183.2:c.4769T>A | NP_001070651.1:p.Phe1590Tyr | |
| NM_001114382.2:c.4901T>A | NP_001107854.1:p.Phe1634Tyr | |
| NM_001318827.1:c.4661T>A | NP_001305756.1:p.Phe1554Tyr | |
| NM_001318829.1:c.4625T>A | NP_001305758.1:p.Phe1542Tyr | |
| NM_001318831.1:c.4238T>A | NP_001305760.1:p.Phe1413Tyr | |
| NM_001318832.1:c.4802T>A | NP_001305761.1:p.Phe1601Tyr | |
| NM_001363528.1:c.4772T>A | NP_001350457.1:p.Phe1591Tyr | |
| NM_021055.2:c.4841T>A | NP_066399.2:p.Phe1614Tyr | |
| XM_005255531.4:c.4772T>A | XP_005255588.2:p.Phe1591Tyr | |
| XM_011522636.2:c.5024T>A | XP_011520938.1:p.Phe1675Tyr | |
| XM_011522637.2:c.5021T>A | XP_011520939.1:p.Phe1674Tyr | |
| XM_011522638.2:c.5186T>A | XP_011520940.2:p.Phe1729Tyr | |
| XM_011522639.2:c.4895T>A | XP_011520941.1:p.Phe1632Tyr | |
| XM_011522640.2:c.4892T>A | XP_011520942.1:p.Phe1631Tyr | |
| XM_017023615.1:c.4967T>A | XP_016879104.1:p.Phe1656Tyr | |
| XM_017023616.1:c.4838T>A | XP_016879105.1:p.Phe1613Tyr | |
| XM_017023617.1:c.4934T>A | XP_016879106.1:p.Phe1645Tyr | |
| XM_017023618.1:c.3680T>A | XP_016879107.1:p.Phe1227Tyr | |
| XM_024450413.1:c.4769T>A | XP_024306181.1:p.Phe1590Tyr | |
| NM_000548.5:c.4970T>A MANE Select | NP_000539.2:p.Phe1657Tyr | |
| NM_001370404.1:c.4838T>A | NP_001357333.1:p.Phe1613Tyr | |
| NM_001370405.1:c.4841T>A | NP_001357334.1:p.Phe1614Tyr | |
| NM_001077183.3:c.4769T>A | NP_001070651.1:p.Phe1590Tyr | |
| NM_001114382.3:c.4901T>A | NP_001107854.1:p.Phe1634Tyr | |
| NM_001318827.2:c.4661T>A | NP_001305756.1:p.Phe1554Tyr | |
| NM_001318829.2:c.4625T>A | NP_001305758.1:p.Phe1542Tyr | |
| NM_001318831.2:c.4238T>A | NP_001305760.1:p.Phe1413Tyr | |
| NM_001318832.2:c.4802T>A | NP_001305761.1:p.Phe1601Tyr | |
| NM_001363528.2:c.4772T>A | NP_001350457.1:p.Phe1591Tyr | |
| NM_021055.3:c.4841T>A | NP_066399.2:p.Phe1614Tyr |