Linked Data
ClinVar Variation Id:
825547
dbSNP Id:
rs780112037
gnomAD v2:
16-2138276-C-G
gnomAD v4:
16-2088275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088275C>G , CM000678.2:g.2088275C>G | GRCh38 |
| NC_000016.9:g.2138276C>G , CM000678.1:g.2138276C>G | GRCh37 |
| NC_000016.8:g.2078277C>G | NCBI36 |
| NG_005895.1:g.43970C>G , LRG_487:g.43970C>G | |
| NG_008617.1:g.54946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3558C>G | ENSP00000455997.2:n.*3558C>G | |
| ENST00000642206.2:c.5056C>G | ENSP00000495146.2:p.Pro1686Ala | |
| ENST00000642365.2:c.5206C>G | ENSP00000495459.2:p.Pro1736Ala | |
| ENST00000644417.2:c.*5722C>G | ENSP00000493912.2:n.*5722C>G | |
| ENST00000646464.2:c.*7958C>G | ENSP00000496610.2:n.*7958C>G | |
| ENST00000219476.9:c.5209C>G MANE Select | ENSP00000219476.3:p.Pro1737Ala | |
| ENST00000350773.9:c.5140C>G | ENSP00000344383.4:p.Pro1714Ala | |
| ENST00000401874.7:c.5008C>G | ENSP00000384468.2:p.Pro1670Ala | |
| ENST00000568454.6:c.5041C>G | ENSP00000454487.1:p.Pro1681Ala | |
| ENST00000569110.2:c.1432C>G | ||
| ENST00000569930.2:n.3091C>G | ||
| ENST00000642365.1:c.3863C>G | ||
| ENST00000642561.1:c.5068C>G | ENSP00000495099.1:p.Pro1690Ala | |
| ENST00000642791.1:n.806C>G | ||
| ENST00000642797.1:c.5011C>G | ENSP00000493846.1:p.Pro1671Ala | |
| ENST00000642936.1:c.5077C>G | ENSP00000494514.1:p.Pro1693Ala | |
| ENST00000643088.1:c.5002C>G | ENSP00000494747.1:p.Pro1668Ala | |
| ENST00000643426.1:n.2857C>G | ||
| ENST00000643946.1:c.5134C>G | ENSP00000495927.1:p.Pro1712Ala | |
| ENST00000644043.1:c.5080C>G | ENSP00000496262.1:p.Pro1694Ala | |
| ENST00000644329.1:c.5095C>G | ENSP00000496611.1:p.Pro1699Ala | |
| ENST00000644335.1:c.5005C>G | ENSP00000496317.1:p.Pro1669Ala | |
| ENST00000644399.1:c.5130C>G | ||
| ENST00000645024.1:n.3293C>G | ||
| ENST00000646388.1:c.5203C>G | ENSP00000495921.1:p.Pro1735Ala | |
| ENST00000646634.1:n.4024C>G | ||
| ENST00000646674.1:n.2461C>G | ||
| ENST00000647042.1:n.2432C>G | ||
| ENST00000647180.1:n.2322C>G | ||
| ENST00000219476.7:c.5209C>G | ENSP00000219476.3:p.Pro1737Ala | |
| ENST00000350773.8:c.5140C>G | ENSP00000344383.4:p.Pro1714Ala | |
| ENST00000382538.10:c.4864C>G | ENSP00000371978.6:p.Pro1622Ala | |
| ENST00000401874.6:c.5008C>G | ENSP00000384468.2:p.Pro1670Ala | |
| ENST00000439117.6:c.*4376C>G | ENSP00000406980.2:n.*4376C>G | |
| ENST00000439673.6:c.4900C>G | ENSP00000399232.2:p.Pro1634Ala | |
| ENST00000497886.5:n.2932C>G | ||
| ENST00000568454.5:c.5041C>G | ENSP00000454487.1:p.Pro1681Ala | |
| ENST00000569110.1:c.1391C>G | ||
| ENST00000569930.1:n.2324C>G | ||
| NM_000548.3:c.5209C>G , LRG_487t1:c.5209C>G | NP_000539.2:p.Pro1737Ala | |
| NM_001077183.1:c.5008C>G | NP_001070651.1:p.Pro1670Ala | |
| NM_001114382.1:c.5140C>G | NP_001107854.1:p.Pro1714Ala | |
| XM_005255529.3:c.5080C>G | XP_005255586.2:p.Pro1694Ala | |
| XM_005255531.3:c.5011C>G | XP_005255588.2:p.Pro1671Ala | |
| XM_011522636.1:c.5263C>G | XP_011520938.1:p.Pro1755Ala | |
| XM_011522637.1:c.5260C>G | XP_011520939.1:p.Pro1754Ala | |
| XM_011522638.1:c.5152C>G | XP_011520940.1:p.Pro1718Ala | |
| XM_011522639.1:c.5134C>G | XP_011520941.1:p.Pro1712Ala | |
| XM_011522640.1:c.5131C>G | XP_011520942.1:p.Pro1711Ala | |
| XM_011522641.1:c.4900C>G | XP_011520943.1:p.Pro1634Ala | |
| NM_000548.4:c.5209C>G | NP_000539.2:p.Pro1737Ala | |
| NM_001077183.2:c.5008C>G | NP_001070651.1:p.Pro1670Ala | |
| NM_001114382.2:c.5140C>G | NP_001107854.1:p.Pro1714Ala | |
| NM_001318827.1:c.4900C>G | NP_001305756.1:p.Pro1634Ala | |
| NM_001318829.1:c.4864C>G | NP_001305758.1:p.Pro1622Ala | |
| NM_001318831.1:c.4477C>G | NP_001305760.1:p.Pro1493Ala | |
| NM_001318832.1:c.5041C>G | NP_001305761.1:p.Pro1681Ala | |
| NM_001363528.1:c.5011C>G | NP_001350457.1:p.Pro1671Ala | |
| NM_021055.2:c.5080C>G | NP_066399.2:p.Pro1694Ala | |
| XM_005255531.4:c.5011C>G | XP_005255588.2:p.Pro1671Ala | |
| XM_011522636.2:c.5263C>G | XP_011520938.1:p.Pro1755Ala | |
| XM_011522637.2:c.5260C>G | XP_011520939.1:p.Pro1754Ala | |
| XM_011522638.2:c.5425C>G | XP_011520940.2:p.Pro1809Ala | |
| XM_011522639.2:c.5134C>G | XP_011520941.1:p.Pro1712Ala | |
| XM_011522640.2:c.5131C>G | XP_011520942.1:p.Pro1711Ala | |
| XM_017023615.1:c.5206C>G | XP_016879104.1:p.Pro1736Ala | |
| XM_017023616.1:c.5077C>G | XP_016879105.1:p.Pro1693Ala | |
| XM_017023617.1:c.5173C>G | XP_016879106.1:p.Pro1725Ala | |
| XM_017023618.1:c.3919C>G | XP_016879107.1:p.Pro1307Ala | |
| XM_024450413.1:c.5095C>G | XP_024306181.1:p.Pro1699Ala | |
| NM_000548.5:c.5209C>G MANE Select | NP_000539.2:p.Pro1737Ala | |
| NM_001370404.1:c.5077C>G | NP_001357333.1:p.Pro1693Ala | |
| NM_001370405.1:c.5068C>G | NP_001357334.1:p.Pro1690Ala | |
| NM_001077183.3:c.5008C>G | NP_001070651.1:p.Pro1670Ala | |
| NM_001114382.3:c.5140C>G | NP_001107854.1:p.Pro1714Ala | |
| NM_001318827.2:c.4900C>G | NP_001305756.1:p.Pro1634Ala | |
| NM_001318829.2:c.4864C>G | NP_001305758.1:p.Pro1622Ala | |
| NM_001318831.2:c.4477C>G | NP_001305760.1:p.Pro1493Ala | |
| NM_001318832.2:c.5041C>G | NP_001305761.1:p.Pro1681Ala | |
| NM_001363528.2:c.5011C>G | NP_001350457.1:p.Pro1671Ala | |
| NM_021055.3:c.5080C>G | NP_066399.2:p.Pro1694Ala |