Linked Data
ClinVar Variation Id:
579379
dbSNP Id:
rs753060862
gnomAD v2:
16-2135274-C-A
gnomAD v4:
16-2085273-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085273C>A , CM000678.2:g.2085273C>A | GRCh38 |
| NC_000016.9:g.2135274C>A , CM000678.1:g.2135274C>A | GRCh37 |
| NC_000016.8:g.2075275C>A | NCBI36 |
| NG_005895.1:g.40968C>A , LRG_487:g.40968C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2962C>A | ENSP00000455997.2:n.*2962C>A | |
| ENST00000642206.2:c.4460C>A | ENSP00000495146.2:p.Pro1487Gln | |
| ENST00000642365.2:c.4610C>A | ENSP00000495459.2:p.Pro1537Gln | |
| ENST00000644417.2:c.*4993C>A | ENSP00000493912.2:n.*4993C>A | |
| ENST00000646464.2:c.*7362C>A | ENSP00000496610.2:n.*7362C>A | |
| ENST00000219476.9:c.4613C>A MANE Select | ENSP00000219476.3:p.Pro1538Gln | |
| ENST00000350773.9:c.4544C>A | ENSP00000344383.4:p.Pro1515Gln | |
| ENST00000401874.7:c.4412C>A | ENSP00000384468.2:p.Pro1471Gln | |
| ENST00000568454.6:c.4445C>A | ENSP00000454487.1:p.Pro1482Gln | |
| ENST00000569110.2:c.836C>A | ||
| ENST00000569930.2:n.2495C>A | ||
| ENST00000642365.1:c.3267C>A | ||
| ENST00000642561.1:c.4484C>A | ENSP00000495099.1:p.Pro1495Gln | |
| ENST00000642728.1:n.795C>A | ||
| ENST00000642791.1:n.210C>A | ||
| ENST00000642797.1:c.4415C>A | ENSP00000493846.1:p.Pro1472Gln | |
| ENST00000642936.1:c.4481C>A | ENSP00000494514.1:p.Pro1494Gln | |
| ENST00000643088.1:c.4406C>A | ENSP00000494747.1:p.Pro1469Gln | |
| ENST00000643177.1:n.627C>A | ||
| ENST00000643426.1:n.2261C>A | ||
| ENST00000643946.1:c.4538C>A | ENSP00000495927.1:p.Pro1513Gln | |
| ENST00000644043.1:c.4484C>A | ENSP00000496262.1:p.Pro1495Gln | |
| ENST00000644278.1:n.95C>A | ||
| ENST00000644329.1:c.4412C>A | ENSP00000496611.1:p.Pro1471Gln | |
| ENST00000644335.1:c.4409C>A | ENSP00000496317.1:p.Pro1470Gln | |
| ENST00000644399.1:c.4534C>A | ||
| ENST00000645024.1:n.2697C>A | ||
| ENST00000646388.1:c.4607C>A | ENSP00000495921.1:p.Pro1536Gln | |
| ENST00000646634.1:n.3428C>A | ||
| ENST00000646674.1:n.1865C>A | ||
| ENST00000647042.1:n.1836C>A | ||
| ENST00000647180.1:n.1726C>A | ||
| ENST00000219476.7:c.4613C>A | ENSP00000219476.3:p.Pro1538Gln | |
| ENST00000350773.8:c.4544C>A | ENSP00000344383.4:p.Pro1515Gln | |
| ENST00000382538.10:c.4268C>A | ENSP00000371978.6:p.Pro1423Gln | |
| ENST00000401874.6:c.4412C>A | ENSP00000384468.2:p.Pro1471Gln | |
| ENST00000439117.6:c.*3780C>A | ENSP00000406980.2:n.*3780C>A | |
| ENST00000439673.6:c.4304C>A | ENSP00000399232.2:p.Pro1435Gln | |
| ENST00000497886.5:n.2371C>A | ||
| ENST00000568454.5:c.4445C>A | ENSP00000454487.1:p.Pro1482Gln | |
| ENST00000569110.1:c.795C>A | ||
| ENST00000569930.1:n.1728C>A | ||
| NM_000548.3:c.4613C>A , LRG_487t1:c.4613C>A | NP_000539.2:p.Pro1538Gln | |
| NM_001077183.1:c.4412C>A | NP_001070651.1:p.Pro1471Gln | |
| NM_001114382.1:c.4544C>A | NP_001107854.1:p.Pro1515Gln | |
| XM_005255529.3:c.4484C>A | XP_005255586.2:p.Pro1495Gln | |
| XM_005255531.3:c.4415C>A | XP_005255588.2:p.Pro1472Gln | |
| XM_011522636.1:c.4667C>A | XP_011520938.1:p.Pro1556Gln | |
| XM_011522637.1:c.4664C>A | XP_011520939.1:p.Pro1555Gln | |
| XM_011522638.1:c.4556C>A | XP_011520940.1:p.Pro1519Gln | |
| XM_011522639.1:c.4538C>A | XP_011520941.1:p.Pro1513Gln | |
| XM_011522640.1:c.4535C>A | XP_011520942.1:p.Pro1512Gln | |
| XM_011522641.1:c.4304C>A | XP_011520943.1:p.Pro1435Gln | |
| NM_000548.4:c.4613C>A | NP_000539.2:p.Pro1538Gln | |
| NM_001077183.2:c.4412C>A | NP_001070651.1:p.Pro1471Gln | |
| NM_001114382.2:c.4544C>A | NP_001107854.1:p.Pro1515Gln | |
| NM_001318827.1:c.4304C>A | NP_001305756.1:p.Pro1435Gln | |
| NM_001318829.1:c.4268C>A | NP_001305758.1:p.Pro1423Gln | |
| NM_001318831.1:c.3881C>A | NP_001305760.1:p.Pro1294Gln | |
| NM_001318832.1:c.4445C>A | NP_001305761.1:p.Pro1482Gln | |
| NM_001363528.1:c.4415C>A | NP_001350457.1:p.Pro1472Gln | |
| NM_021055.2:c.4484C>A | NP_066399.2:p.Pro1495Gln | |
| XM_005255531.4:c.4415C>A | XP_005255588.2:p.Pro1472Gln | |
| XM_011522636.2:c.4667C>A | XP_011520938.1:p.Pro1556Gln | |
| XM_011522637.2:c.4664C>A | XP_011520939.1:p.Pro1555Gln | |
| XM_011522638.2:c.4829C>A | XP_011520940.2:p.Pro1610Gln | |
| XM_011522639.2:c.4538C>A | XP_011520941.1:p.Pro1513Gln | |
| XM_011522640.2:c.4535C>A | XP_011520942.1:p.Pro1512Gln | |
| XM_017023615.1:c.4610C>A | XP_016879104.1:p.Pro1537Gln | |
| XM_017023616.1:c.4481C>A | XP_016879105.1:p.Pro1494Gln | |
| XM_017023617.1:c.4577C>A | XP_016879106.1:p.Pro1526Gln | |
| XM_017023618.1:c.3323C>A | XP_016879107.1:p.Pro1108Gln | |
| XM_024450413.1:c.4412C>A | XP_024306181.1:p.Pro1471Gln | |
| NM_000548.5:c.4613C>A MANE Select | NP_000539.2:p.Pro1538Gln | |
| NM_001370404.1:c.4481C>A | NP_001357333.1:p.Pro1494Gln | |
| NM_001370405.1:c.4484C>A | NP_001357334.1:p.Pro1495Gln | |
| NM_001077183.3:c.4412C>A | NP_001070651.1:p.Pro1471Gln | |
| NM_001114382.3:c.4544C>A | NP_001107854.1:p.Pro1515Gln | |
| NM_001318827.2:c.4304C>A | NP_001305756.1:p.Pro1435Gln | |
| NM_001318829.2:c.4268C>A | NP_001305758.1:p.Pro1423Gln | |
| NM_001318831.2:c.3881C>A | NP_001305760.1:p.Pro1294Gln | |
| NM_001318832.2:c.4445C>A | NP_001305761.1:p.Pro1482Gln | |
| NM_001363528.2:c.4415C>A | NP_001350457.1:p.Pro1472Gln | |
| NM_021055.3:c.4484C>A | NP_066399.2:p.Pro1495Gln |