Linked Data
ClinVar Variation Id:
642802
ClinVar RCV Id:
RCV000796334
dbSNP Id:
rs76934857
gnomAD v3:
16-2084653-G-C
gnomAD v4:
16-2084653-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084653G>C , CM000678.2:g.2084653G>C | GRCh38 |
| NC_000016.9:g.2134654G>C , CM000678.1:g.2134654G>C | GRCh37 |
| NC_000016.8:g.2074655G>C | NCBI36 |
| NG_005895.1:g.40348G>C , LRG_487:g.40348G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2780G>C | ENSP00000455997.2:n.*2780G>C | |
| ENST00000642206.2:c.4278G>C | ENSP00000495146.2:p.Arg1426Ser | |
| ENST00000642365.2:c.4428G>C | ENSP00000495459.2:p.Arg1476Ser | |
| ENST00000644417.2:c.*4811G>C | ENSP00000493912.2:n.*4811G>C | |
| ENST00000646464.2:c.*7180G>C | ENSP00000496610.2:n.*7180G>C | |
| ENST00000219476.9:c.4431G>C MANE Select | ENSP00000219476.3:p.Arg1477Ser | |
| ENST00000350773.9:c.4362G>C | ENSP00000344383.4:p.Arg1454Ser | |
| ENST00000401874.7:c.4230G>C | ENSP00000384468.2:p.Arg1410Ser | |
| ENST00000568454.6:c.4263G>C | ENSP00000454487.1:p.Arg1421Ser | |
| ENST00000569110.2:c.667G>C | ||
| ENST00000569930.2:n.2313G>C | ||
| ENST00000642365.1:c.3085G>C | ||
| ENST00000642561.1:c.4302G>C | ENSP00000495099.1:p.Arg1434Ser | |
| ENST00000642728.1:n.613G>C | ||
| ENST00000642797.1:c.4233G>C | ENSP00000493846.1:p.Arg1411Ser | |
| ENST00000642936.1:c.4299G>C | ENSP00000494514.1:p.Arg1433Ser | |
| ENST00000643088.1:c.4230G>C | ENSP00000494747.1:p.Arg1410Ser | |
| ENST00000643177.1:n.445G>C | ||
| ENST00000643426.1:n.2079G>C | ||
| ENST00000643946.1:c.4362G>C | ENSP00000495927.1:p.Arg1454Ser | |
| ENST00000644043.1:c.4302G>C | ENSP00000496262.1:p.Arg1434Ser | |
| ENST00000644329.1:c.4230G>C | ENSP00000496611.1:p.Arg1410Ser | |
| ENST00000644335.1:c.4233G>C | ENSP00000496317.1:p.Arg1411Ser | |
| ENST00000644399.1:c.4352G>C | ||
| ENST00000645024.1:n.2515G>C | ||
| ENST00000646388.1:c.4431G>C | ENSP00000495921.1:p.Arg1477Ser | |
| ENST00000646634.1:n.3246G>C | ||
| ENST00000646674.1:n.1683G>C | ||
| ENST00000647042.1:n.1654G>C | ||
| ENST00000647180.1:n.1544G>C | ||
| ENST00000219476.7:c.4431G>C | ENSP00000219476.3:p.Arg1477Ser | |
| ENST00000350773.8:c.4362G>C | ENSP00000344383.4:p.Arg1454Ser | |
| ENST00000382538.10:c.4086G>C | ENSP00000371978.6:p.Arg1362Ser | |
| ENST00000401874.6:c.4230G>C | ENSP00000384468.2:p.Arg1410Ser | |
| ENST00000439117.6:c.*3598G>C | ENSP00000406980.2:n.*3598G>C | |
| ENST00000439673.6:c.4122G>C | ENSP00000399232.2:p.Arg1374Ser | |
| ENST00000497886.5:n.2189G>C | ||
| ENST00000568454.5:c.4263G>C | ENSP00000454487.1:p.Arg1421Ser | |
| ENST00000569110.1:c.613G>C | ||
| ENST00000569930.1:n.1546G>C | ||
| NM_000548.3:c.4431G>C , LRG_487t1:c.4431G>C | NP_000539.2:p.Arg1477Ser | |
| NM_001077183.1:c.4230G>C | NP_001070651.1:p.Arg1410Ser | |
| NM_001114382.1:c.4362G>C | NP_001107854.1:p.Arg1454Ser | |
| XM_005255529.3:c.4302G>C | XP_005255586.2:p.Arg1434Ser | |
| XM_005255531.3:c.4233G>C | XP_005255588.2:p.Arg1411Ser | |
| XM_011522636.1:c.4485G>C | XP_011520938.1:p.Arg1495Ser | |
| XM_011522637.1:c.4482G>C | XP_011520939.1:p.Arg1494Ser | |
| XM_011522638.1:c.4374G>C | XP_011520940.1:p.Arg1458Ser | |
| XM_011522639.1:c.4356G>C | XP_011520941.1:p.Arg1452Ser | |
| XM_011522640.1:c.4353G>C | XP_011520942.1:p.Arg1451Ser | |
| XM_011522641.1:c.4122G>C | XP_011520943.1:p.Arg1374Ser | |
| NM_000548.4:c.4431G>C | NP_000539.2:p.Arg1477Ser | |
| NM_001077183.2:c.4230G>C | NP_001070651.1:p.Arg1410Ser | |
| NM_001114382.2:c.4362G>C | NP_001107854.1:p.Arg1454Ser | |
| NM_001318827.1:c.4122G>C | NP_001305756.1:p.Arg1374Ser | |
| NM_001318829.1:c.4086G>C | NP_001305758.1:p.Arg1362Ser | |
| NM_001318831.1:c.3699G>C | NP_001305760.1:p.Arg1233Ser | |
| NM_001318832.1:c.4263G>C | NP_001305761.1:p.Arg1421Ser | |
| NM_001363528.1:c.4233G>C | NP_001350457.1:p.Arg1411Ser | |
| NM_021055.2:c.4302G>C | NP_066399.2:p.Arg1434Ser | |
| XM_005255531.4:c.4233G>C | XP_005255588.2:p.Arg1411Ser | |
| XM_011522636.2:c.4485G>C | XP_011520938.1:p.Arg1495Ser | |
| XM_011522637.2:c.4482G>C | XP_011520939.1:p.Arg1494Ser | |
| XM_011522638.2:c.4647G>C | XP_011520940.2:p.Arg1549Ser | |
| XM_011522639.2:c.4356G>C | XP_011520941.1:p.Arg1452Ser | |
| XM_011522640.2:c.4353G>C | XP_011520942.1:p.Arg1451Ser | |
| XM_017023615.1:c.4428G>C | XP_016879104.1:p.Arg1476Ser | |
| XM_017023616.1:c.4299G>C | XP_016879105.1:p.Arg1433Ser | |
| XM_017023617.1:c.4395G>C | XP_016879106.1:p.Arg1465Ser | |
| XM_017023618.1:c.3141G>C | XP_016879107.1:p.Arg1047Ser | |
| XM_024450413.1:c.4230G>C | XP_024306181.1:p.Arg1410Ser | |
| NM_000548.5:c.4431G>C MANE Select | NP_000539.2:p.Arg1477Ser | |
| NM_001370404.1:c.4299G>C | NP_001357333.1:p.Arg1433Ser | |
| NM_001370405.1:c.4302G>C | NP_001357334.1:p.Arg1434Ser | |
| NM_001077183.3:c.4230G>C | NP_001070651.1:p.Arg1410Ser | |
| NM_001114382.3:c.4362G>C | NP_001107854.1:p.Arg1454Ser | |
| NM_001318827.2:c.4122G>C | NP_001305756.1:p.Arg1374Ser | |
| NM_001318829.2:c.4086G>C | NP_001305758.1:p.Arg1362Ser | |
| NM_001318831.2:c.3699G>C | NP_001305760.1:p.Arg1233Ser | |
| NM_001318832.2:c.4263G>C | NP_001305761.1:p.Arg1421Ser | |
| NM_001363528.2:c.4233G>C | NP_001350457.1:p.Arg1411Ser | |
| NM_021055.3:c.4302G>C | NP_066399.2:p.Arg1434Ser |