Linked Data
ClinVar Variation Id:
468083
dbSNP Id:
rs376381196
ExAC:
16:2134571 C / G
gnomAD v2:
16-2134571-C-G
gnomAD v3:
16-2084570-C-G
gnomAD v4:
16-2084570-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084570C>G , CM000678.2:g.2084570C>G | GRCh38 |
| NC_000016.9:g.2134571C>G , CM000678.1:g.2134571C>G | GRCh37 |
| NC_000016.8:g.2074572C>G | NCBI36 |
| NG_005895.1:g.40265C>G , LRG_487:g.40265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2697C>G | ENSP00000455997.2:n.*2697C>G | |
| ENST00000642206.2:c.4195C>G | ENSP00000495146.2:p.Pro1399Ala | |
| ENST00000642365.2:c.4345C>G | ENSP00000495459.2:p.Pro1449Ala | |
| ENST00000644417.2:c.*4728C>G | ENSP00000493912.2:n.*4728C>G | |
| ENST00000646464.2:c.*7097C>G | ENSP00000496610.2:n.*7097C>G | |
| ENST00000219476.9:c.4348C>G MANE Select | ENSP00000219476.3:p.Pro1450Ala | |
| ENST00000350773.9:c.4279C>G | ENSP00000344383.4:p.Pro1427Ala | |
| ENST00000401874.7:c.4147C>G | ENSP00000384468.2:p.Pro1383Ala | |
| ENST00000568454.6:c.4180C>G | ENSP00000454487.1:p.Pro1394Ala | |
| ENST00000569110.2:c.584C>G | ||
| ENST00000569930.2:n.2230C>G | ||
| ENST00000642365.1:c.3002C>G | ||
| ENST00000642561.1:c.4219C>G | ENSP00000495099.1:p.Pro1407Ala | |
| ENST00000642728.1:n.530C>G | ||
| ENST00000642797.1:c.4150C>G | ENSP00000493846.1:p.Pro1384Ala | |
| ENST00000642936.1:c.4216C>G | ENSP00000494514.1:p.Pro1406Ala | |
| ENST00000643088.1:c.4147C>G | ENSP00000494747.1:p.Pro1383Ala | |
| ENST00000643177.1:n.362C>G | ||
| ENST00000643426.1:n.1996C>G | ||
| ENST00000643946.1:c.4279C>G | ENSP00000495927.1:p.Pro1427Ala | |
| ENST00000644043.1:c.4219C>G | ENSP00000496262.1:p.Pro1407Ala | |
| ENST00000644329.1:c.4147C>G | ENSP00000496611.1:p.Pro1383Ala | |
| ENST00000644335.1:c.4150C>G | ENSP00000496317.1:p.Pro1384Ala | |
| ENST00000644399.1:c.4269C>G | ||
| ENST00000645024.1:n.2432C>G | ||
| ENST00000646388.1:c.4348C>G | ENSP00000495921.1:p.Pro1450Ala | |
| ENST00000646634.1:n.3163C>G | ||
| ENST00000646674.1:n.1600C>G | ||
| ENST00000647042.1:n.1571C>G | ||
| ENST00000647180.1:n.1461C>G | ||
| ENST00000219476.7:c.4348C>G | ENSP00000219476.3:p.Pro1450Ala | |
| ENST00000350773.8:c.4279C>G | ENSP00000344383.4:p.Pro1427Ala | |
| ENST00000382538.10:c.4003C>G | ENSP00000371978.6:p.Pro1335Ala | |
| ENST00000401874.6:c.4147C>G | ENSP00000384468.2:p.Pro1383Ala | |
| ENST00000439117.6:c.*3515C>G | ENSP00000406980.2:n.*3515C>G | |
| ENST00000439673.6:c.4039C>G | ENSP00000399232.2:p.Pro1347Ala | |
| ENST00000497886.5:n.2106C>G | ||
| ENST00000568454.5:c.4180C>G | ENSP00000454487.1:p.Pro1394Ala | |
| ENST00000569110.1:c.530C>G | ||
| ENST00000569930.1:n.1463C>G | ||
| NM_000548.3:c.4348C>G , LRG_487t1:c.4348C>G | NP_000539.2:p.Pro1450Ala | |
| NM_001077183.1:c.4147C>G | NP_001070651.1:p.Pro1383Ala | |
| NM_001114382.1:c.4279C>G | NP_001107854.1:p.Pro1427Ala | |
| XM_005255529.3:c.4219C>G | XP_005255586.2:p.Pro1407Ala | |
| XM_005255531.3:c.4150C>G | XP_005255588.2:p.Pro1384Ala | |
| XM_011522636.1:c.4402C>G | XP_011520938.1:p.Pro1468Ala | |
| XM_011522637.1:c.4399C>G | XP_011520939.1:p.Pro1467Ala | |
| XM_011522638.1:c.4291C>G | XP_011520940.1:p.Pro1431Ala | |
| XM_011522639.1:c.4273C>G | XP_011520941.1:p.Pro1425Ala | |
| XM_011522640.1:c.4270C>G | XP_011520942.1:p.Pro1424Ala | |
| XM_011522641.1:c.4039C>G | XP_011520943.1:p.Pro1347Ala | |
| NM_000548.4:c.4348C>G | NP_000539.2:p.Pro1450Ala | |
| NM_001077183.2:c.4147C>G | NP_001070651.1:p.Pro1383Ala | |
| NM_001114382.2:c.4279C>G | NP_001107854.1:p.Pro1427Ala | |
| NM_001318827.1:c.4039C>G | NP_001305756.1:p.Pro1347Ala | |
| NM_001318829.1:c.4003C>G | NP_001305758.1:p.Pro1335Ala | |
| NM_001318831.1:c.3616C>G | NP_001305760.1:p.Pro1206Ala | |
| NM_001318832.1:c.4180C>G | NP_001305761.1:p.Pro1394Ala | |
| NM_001363528.1:c.4150C>G | NP_001350457.1:p.Pro1384Ala | |
| NM_021055.2:c.4219C>G | NP_066399.2:p.Pro1407Ala | |
| XM_005255531.4:c.4150C>G | XP_005255588.2:p.Pro1384Ala | |
| XM_011522636.2:c.4402C>G | XP_011520938.1:p.Pro1468Ala | |
| XM_011522637.2:c.4399C>G | XP_011520939.1:p.Pro1467Ala | |
| XM_011522638.2:c.4564C>G | XP_011520940.2:p.Pro1522Ala | |
| XM_011522639.2:c.4273C>G | XP_011520941.1:p.Pro1425Ala | |
| XM_011522640.2:c.4270C>G | XP_011520942.1:p.Pro1424Ala | |
| XM_017023615.1:c.4345C>G | XP_016879104.1:p.Pro1449Ala | |
| XM_017023616.1:c.4216C>G | XP_016879105.1:p.Pro1406Ala | |
| XM_017023617.1:c.4312C>G | XP_016879106.1:p.Pro1438Ala | |
| XM_017023618.1:c.3058C>G | XP_016879107.1:p.Pro1020Ala | |
| XM_024450413.1:c.4147C>G | XP_024306181.1:p.Pro1383Ala | |
| NM_000548.5:c.4348C>G MANE Select | NP_000539.2:p.Pro1450Ala | |
| NM_001370404.1:c.4216C>G | NP_001357333.1:p.Pro1406Ala | |
| NM_001370405.1:c.4219C>G | NP_001357334.1:p.Pro1407Ala | |
| NM_001077183.3:c.4147C>G | NP_001070651.1:p.Pro1383Ala | |
| NM_001114382.3:c.4279C>G | NP_001107854.1:p.Pro1427Ala | |
| NM_001318827.2:c.4039C>G | NP_001305756.1:p.Pro1347Ala | |
| NM_001318829.2:c.4003C>G | NP_001305758.1:p.Pro1335Ala | |
| NM_001318831.2:c.3616C>G | NP_001305760.1:p.Pro1206Ala | |
| NM_001318832.2:c.4180C>G | NP_001305761.1:p.Pro1394Ala | |
| NM_001363528.2:c.4150C>G | NP_001350457.1:p.Pro1384Ala | |
| NM_021055.3:c.4219C>G | NP_066399.2:p.Pro1407Ala |