Linked Data
ClinVar Variation Id:
49473
dbSNP Id:
rs45514391
ExAC:
16:2135240 T / C
gnomAD v2:
16-2135240-T-C
gnomAD v3:
16-2085239-T-C
gnomAD v4:
16-2085239-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085239T>C , CM000678.2:g.2085239T>C | GRCh38 |
| NC_000016.9:g.2135240T>C , CM000678.1:g.2135240T>C | GRCh37 |
| NC_000016.8:g.2075241T>C | NCBI36 |
| NG_005895.1:g.40934T>C , LRG_487:g.40934T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2928T>C | ENSP00000455997.2:n.*2928T>C | |
| ENST00000642206.2:c.4426T>C | ENSP00000495146.2:p.Phe1476Leu | |
| ENST00000642365.2:c.4576T>C | ENSP00000495459.2:p.Phe1526Leu | |
| ENST00000644417.2:c.*4959T>C | ENSP00000493912.2:n.*4959T>C | |
| ENST00000646464.2:c.*7328T>C | ENSP00000496610.2:n.*7328T>C | |
| ENST00000219476.9:c.4579T>C MANE Select | ENSP00000219476.3:p.Phe1527Leu | |
| ENST00000350773.9:c.4510T>C | ENSP00000344383.4:p.Phe1504Leu | |
| ENST00000401874.7:c.4378T>C | ENSP00000384468.2:p.Phe1460Leu | |
| ENST00000568454.6:c.4411T>C | ENSP00000454487.1:p.Phe1471Leu | |
| ENST00000569110.2:c.802T>C | ||
| ENST00000569930.2:n.2461T>C | ||
| ENST00000642365.1:c.3233T>C | ||
| ENST00000642561.1:c.4450T>C | ENSP00000495099.1:p.Phe1484Leu | |
| ENST00000642728.1:n.761T>C | ||
| ENST00000642791.1:n.176T>C | ||
| ENST00000642797.1:c.4381T>C | ENSP00000493846.1:p.Phe1461Leu | |
| ENST00000642936.1:c.4447T>C | ENSP00000494514.1:p.Phe1483Leu | |
| ENST00000643088.1:c.4372T>C | ENSP00000494747.1:p.Phe1458Leu | |
| ENST00000643177.1:n.593T>C | ||
| ENST00000643426.1:n.2227T>C | ||
| ENST00000643946.1:c.4504T>C | ENSP00000495927.1:p.Phe1502Leu | |
| ENST00000644043.1:c.4450T>C | ENSP00000496262.1:p.Phe1484Leu | |
| ENST00000644278.1:n.61T>C | ||
| ENST00000644329.1:c.4378T>C | ENSP00000496611.1:p.Phe1460Leu | |
| ENST00000644335.1:c.4375T>C | ENSP00000496317.1:p.Phe1459Leu | |
| ENST00000644399.1:c.4500T>C | ||
| ENST00000645024.1:n.2663T>C | ||
| ENST00000646388.1:c.4573T>C | ENSP00000495921.1:p.Phe1525Leu | |
| ENST00000646634.1:n.3394T>C | ||
| ENST00000646674.1:n.1831T>C | ||
| ENST00000647042.1:n.1802T>C | ||
| ENST00000647180.1:n.1692T>C | ||
| ENST00000219476.7:c.4579T>C | ENSP00000219476.3:p.Phe1527Leu | |
| ENST00000350773.8:c.4510T>C | ENSP00000344383.4:p.Phe1504Leu | |
| ENST00000382538.10:c.4234T>C | ENSP00000371978.6:p.Phe1412Leu | |
| ENST00000401874.6:c.4378T>C | ENSP00000384468.2:p.Phe1460Leu | |
| ENST00000439117.6:c.*3746T>C | ENSP00000406980.2:n.*3746T>C | |
| ENST00000439673.6:c.4270T>C | ENSP00000399232.2:p.Phe1424Leu | |
| ENST00000497886.5:n.2337T>C | ||
| ENST00000568454.5:c.4411T>C | ENSP00000454487.1:p.Phe1471Leu | |
| ENST00000569110.1:c.761T>C | ||
| ENST00000569930.1:n.1694T>C | ||
| NM_000548.3:c.4579T>C , LRG_487t1:c.4579T>C | NP_000539.2:p.Phe1527Leu | |
| NM_001077183.1:c.4378T>C | NP_001070651.1:p.Phe1460Leu | |
| NM_001114382.1:c.4510T>C | NP_001107854.1:p.Phe1504Leu | |
| XM_005255529.3:c.4450T>C | XP_005255586.2:p.Phe1484Leu | |
| XM_005255531.3:c.4381T>C | XP_005255588.2:p.Phe1461Leu | |
| XM_011522636.1:c.4633T>C | XP_011520938.1:p.Phe1545Leu | |
| XM_011522637.1:c.4630T>C | XP_011520939.1:p.Phe1544Leu | |
| XM_011522638.1:c.4522T>C | XP_011520940.1:p.Phe1508Leu | |
| XM_011522639.1:c.4504T>C | XP_011520941.1:p.Phe1502Leu | |
| XM_011522640.1:c.4501T>C | XP_011520942.1:p.Phe1501Leu | |
| XM_011522641.1:c.4270T>C | XP_011520943.1:p.Phe1424Leu | |
| NM_000548.4:c.4579T>C | NP_000539.2:p.Phe1527Leu | |
| NM_001077183.2:c.4378T>C | NP_001070651.1:p.Phe1460Leu | |
| NM_001114382.2:c.4510T>C | NP_001107854.1:p.Phe1504Leu | |
| NM_001318827.1:c.4270T>C | NP_001305756.1:p.Phe1424Leu | |
| NM_001318829.1:c.4234T>C | NP_001305758.1:p.Phe1412Leu | |
| NM_001318831.1:c.3847T>C | NP_001305760.1:p.Phe1283Leu | |
| NM_001318832.1:c.4411T>C | NP_001305761.1:p.Phe1471Leu | |
| NM_001363528.1:c.4381T>C | NP_001350457.1:p.Phe1461Leu | |
| NM_021055.2:c.4450T>C | NP_066399.2:p.Phe1484Leu | |
| XM_005255531.4:c.4381T>C | XP_005255588.2:p.Phe1461Leu | |
| XM_011522636.2:c.4633T>C | XP_011520938.1:p.Phe1545Leu | |
| XM_011522637.2:c.4630T>C | XP_011520939.1:p.Phe1544Leu | |
| XM_011522638.2:c.4795T>C | XP_011520940.2:p.Phe1599Leu | |
| XM_011522639.2:c.4504T>C | XP_011520941.1:p.Phe1502Leu | |
| XM_011522640.2:c.4501T>C | XP_011520942.1:p.Phe1501Leu | |
| XM_017023615.1:c.4576T>C | XP_016879104.1:p.Phe1526Leu | |
| XM_017023616.1:c.4447T>C | XP_016879105.1:p.Phe1483Leu | |
| XM_017023617.1:c.4543T>C | XP_016879106.1:p.Phe1515Leu | |
| XM_017023618.1:c.3289T>C | XP_016879107.1:p.Phe1097Leu | |
| XM_024450413.1:c.4378T>C | XP_024306181.1:p.Phe1460Leu | |
| NM_000548.5:c.4579T>C MANE Select | NP_000539.2:p.Phe1527Leu | |
| NM_001370404.1:c.4447T>C | NP_001357333.1:p.Phe1483Leu | |
| NM_001370405.1:c.4450T>C | NP_001357334.1:p.Phe1484Leu | |
| NM_001077183.3:c.4378T>C | NP_001070651.1:p.Phe1460Leu | |
| NM_001114382.3:c.4510T>C | NP_001107854.1:p.Phe1504Leu | |
| NM_001318827.2:c.4270T>C | NP_001305756.1:p.Phe1424Leu | |
| NM_001318829.2:c.4234T>C | NP_001305758.1:p.Phe1412Leu | |
| NM_001318831.2:c.3847T>C | NP_001305760.1:p.Phe1283Leu | |
| NM_001318832.2:c.4411T>C | NP_001305761.1:p.Phe1471Leu | |
| NM_001363528.2:c.4381T>C | NP_001350457.1:p.Phe1461Leu | |
| NM_021055.3:c.4450T>C | NP_066399.2:p.Phe1484Leu |