Linked Data
ClinVar Variation Id:
238043
dbSNP Id:
rs878854104
gnomAD v3:
16-2084294-C-G
gnomAD v4:
16-2084294-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084294C>G , CM000678.2:g.2084294C>G | GRCh38 |
| NC_000016.9:g.2134295C>G , CM000678.1:g.2134295C>G | GRCh37 |
| NC_000016.8:g.2074296C>G | NCBI36 |
| NG_005895.1:g.39989C>G , LRG_487:g.39989C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2421C>G | ENSP00000455997.2:n.*2421C>G | |
| ENST00000642206.2:c.3919C>G | ENSP00000495146.2:p.Pro1307Ala | |
| ENST00000642365.2:c.4069C>G | ENSP00000495459.2:p.Pro1357Ala | |
| ENST00000644417.2:c.*4452C>G | ENSP00000493912.2:n.*4452C>G | |
| ENST00000646464.2:c.*6821C>G | ENSP00000496610.2:n.*6821C>G | |
| ENST00000219476.9:c.4072C>G MANE Select | ENSP00000219476.3:p.Pro1358Ala | |
| ENST00000350773.9:c.4003C>G | ENSP00000344383.4:p.Pro1335Ala | |
| ENST00000401874.7:c.3871C>G | ENSP00000384468.2:p.Pro1291Ala | |
| ENST00000568454.6:c.3904C>G | ENSP00000454487.1:p.Pro1302Ala | |
| ENST00000569110.2:c.308C>G | ||
| ENST00000569930.2:n.1954C>G | ||
| ENST00000642365.1:c.2726C>G | ||
| ENST00000642561.1:c.3943C>G | ENSP00000495099.1:p.Pro1315Ala | |
| ENST00000642728.1:n.254C>G | ||
| ENST00000642797.1:c.3874C>G | ENSP00000493846.1:p.Pro1292Ala | |
| ENST00000642936.1:c.3940C>G | ENSP00000494514.1:p.Pro1314Ala | |
| ENST00000643088.1:c.3871C>G | ENSP00000494747.1:p.Pro1291Ala | |
| ENST00000643177.1:n.86C>G | ||
| ENST00000643426.1:n.1720C>G | ||
| ENST00000643533.1:n.513C>G | ||
| ENST00000643946.1:c.4003C>G | ENSP00000495927.1:p.Pro1335Ala | |
| ENST00000644043.1:c.3943C>G | ENSP00000496262.1:p.Pro1315Ala | |
| ENST00000644329.1:c.3871C>G | ENSP00000496611.1:p.Pro1291Ala | |
| ENST00000644335.1:c.3874C>G | ENSP00000496317.1:p.Pro1292Ala | |
| ENST00000644399.1:c.3993C>G | ||
| ENST00000645024.1:n.2156C>G | ||
| ENST00000645186.1:c.315C>G | ||
| ENST00000646388.1:c.4072C>G | ENSP00000495921.1:p.Pro1358Ala | |
| ENST00000646634.1:n.2887C>G | ||
| ENST00000646674.1:n.1324C>G | ||
| ENST00000647042.1:n.1295C>G | ||
| ENST00000647180.1:n.1185C>G | ||
| ENST00000219476.7:c.4072C>G | ENSP00000219476.3:p.Pro1358Ala | |
| ENST00000350773.8:c.4003C>G | ENSP00000344383.4:p.Pro1335Ala | |
| ENST00000382538.10:c.3727C>G | ENSP00000371978.6:p.Pro1243Ala | |
| ENST00000401874.6:c.3871C>G | ENSP00000384468.2:p.Pro1291Ala | |
| ENST00000439117.6:c.*3239C>G | ENSP00000406980.2:n.*3239C>G | |
| ENST00000439673.6:c.3763C>G | ENSP00000399232.2:p.Pro1255Ala | |
| ENST00000497886.5:n.1830C>G | ||
| ENST00000568454.5:c.3904C>G | ENSP00000454487.1:p.Pro1302Ala | |
| ENST00000569110.1:c.254C>G | ||
| ENST00000569930.1:n.1187C>G | ||
| NM_000548.3:c.4072C>G , LRG_487t1:c.4072C>G | NP_000539.2:p.Pro1358Ala | |
| NM_001077183.1:c.3871C>G | NP_001070651.1:p.Pro1291Ala | |
| NM_001114382.1:c.4003C>G | NP_001107854.1:p.Pro1335Ala | |
| XM_005255529.3:c.3943C>G | XP_005255586.2:p.Pro1315Ala | |
| XM_005255531.3:c.3874C>G | XP_005255588.2:p.Pro1292Ala | |
| XM_011522636.1:c.4126C>G | XP_011520938.1:p.Pro1376Ala | |
| XM_011522637.1:c.4123C>G | XP_011520939.1:p.Pro1375Ala | |
| XM_011522638.1:c.4015C>G | XP_011520940.1:p.Pro1339Ala | |
| XM_011522639.1:c.3997C>G | XP_011520941.1:p.Pro1333Ala | |
| XM_011522640.1:c.3994C>G | XP_011520942.1:p.Pro1332Ala | |
| XM_011522641.1:c.3763C>G | XP_011520943.1:p.Pro1255Ala | |
| NM_000548.4:c.4072C>G | NP_000539.2:p.Pro1358Ala | |
| NM_001077183.2:c.3871C>G | NP_001070651.1:p.Pro1291Ala | |
| NM_001114382.2:c.4003C>G | NP_001107854.1:p.Pro1335Ala | |
| NM_001318827.1:c.3763C>G | NP_001305756.1:p.Pro1255Ala | |
| NM_001318829.1:c.3727C>G | NP_001305758.1:p.Pro1243Ala | |
| NM_001318831.1:c.3340C>G | NP_001305760.1:p.Pro1114Ala | |
| NM_001318832.1:c.3904C>G | NP_001305761.1:p.Pro1302Ala | |
| NM_001363528.1:c.3874C>G | NP_001350457.1:p.Pro1292Ala | |
| NM_021055.2:c.3943C>G | NP_066399.2:p.Pro1315Ala | |
| XM_005255531.4:c.3874C>G | XP_005255588.2:p.Pro1292Ala | |
| XM_011522636.2:c.4126C>G | XP_011520938.1:p.Pro1376Ala | |
| XM_011522637.2:c.4123C>G | XP_011520939.1:p.Pro1375Ala | |
| XM_011522638.2:c.4288C>G | XP_011520940.2:p.Pro1430Ala | |
| XM_011522639.2:c.3997C>G | XP_011520941.1:p.Pro1333Ala | |
| XM_011522640.2:c.3994C>G | XP_011520942.1:p.Pro1332Ala | |
| XM_017023615.1:c.4069C>G | XP_016879104.1:p.Pro1357Ala | |
| XM_017023616.1:c.3940C>G | XP_016879105.1:p.Pro1314Ala | |
| XM_017023617.1:c.4036C>G | XP_016879106.1:p.Pro1346Ala | |
| XM_017023618.1:c.2782C>G | XP_016879107.1:p.Pro928Ala | |
| XM_024450413.1:c.3871C>G | XP_024306181.1:p.Pro1291Ala | |
| NM_000548.5:c.4072C>G MANE Select | NP_000539.2:p.Pro1358Ala | |
| NM_001370404.1:c.3940C>G | NP_001357333.1:p.Pro1314Ala | |
| NM_001370405.1:c.3943C>G | NP_001357334.1:p.Pro1315Ala | |
| NM_001077183.3:c.3871C>G | NP_001070651.1:p.Pro1291Ala | |
| NM_001114382.3:c.4003C>G | NP_001107854.1:p.Pro1335Ala | |
| NM_001318827.2:c.3763C>G | NP_001305756.1:p.Pro1255Ala | |
| NM_001318829.2:c.3727C>G | NP_001305758.1:p.Pro1243Ala | |
| NM_001318831.2:c.3340C>G | NP_001305760.1:p.Pro1114Ala | |
| NM_001318832.2:c.3904C>G | NP_001305761.1:p.Pro1302Ala | |
| NM_001363528.2:c.3874C>G | NP_001350457.1:p.Pro1292Ala | |
| NM_021055.3:c.3943C>G | NP_066399.2:p.Pro1315Ala |