Linked Data
ClinVar Variation Id:
535857
dbSNP Id:
rs1320400029
gnomAD v2:
16-2134585-T-G
gnomAD v4:
16-2084584-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084584T>G , CM000678.2:g.2084584T>G | GRCh38 |
| NC_000016.9:g.2134585T>G , CM000678.1:g.2134585T>G | GRCh37 |
| NC_000016.8:g.2074586T>G | NCBI36 |
| NG_005895.1:g.40279T>G , LRG_487:g.40279T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2711T>G | ENSP00000455997.2:n.*2711T>G | |
| ENST00000642206.2:c.4209T>G | ENSP00000495146.2:p.Ser1403Arg | |
| ENST00000642365.2:c.4359T>G | ENSP00000495459.2:p.Ser1453Arg | |
| ENST00000644417.2:c.*4742T>G | ENSP00000493912.2:n.*4742T>G | |
| ENST00000646464.2:c.*7111T>G | ENSP00000496610.2:n.*7111T>G | |
| ENST00000219476.9:c.4362T>G MANE Select | ENSP00000219476.3:p.Ser1454Arg | |
| ENST00000350773.9:c.4293T>G | ENSP00000344383.4:p.Ser1431Arg | |
| ENST00000401874.7:c.4161T>G | ENSP00000384468.2:p.Ser1387Arg | |
| ENST00000568454.6:c.4194T>G | ENSP00000454487.1:p.Ser1398Arg | |
| ENST00000569110.2:c.598T>G | ||
| ENST00000569930.2:n.2244T>G | ||
| ENST00000642365.1:c.3016T>G | ||
| ENST00000642561.1:c.4233T>G | ENSP00000495099.1:p.Ser1411Arg | |
| ENST00000642728.1:n.544T>G | ||
| ENST00000642797.1:c.4164T>G | ENSP00000493846.1:p.Ser1388Arg | |
| ENST00000642936.1:c.4230T>G | ENSP00000494514.1:p.Ser1410Arg | |
| ENST00000643088.1:c.4161T>G | ENSP00000494747.1:p.Ser1387Arg | |
| ENST00000643177.1:n.376T>G | ||
| ENST00000643426.1:n.2010T>G | ||
| ENST00000643946.1:c.4293T>G | ENSP00000495927.1:p.Ser1431Arg | |
| ENST00000644043.1:c.4233T>G | ENSP00000496262.1:p.Ser1411Arg | |
| ENST00000644329.1:c.4161T>G | ENSP00000496611.1:p.Ser1387Arg | |
| ENST00000644335.1:c.4164T>G | ENSP00000496317.1:p.Ser1388Arg | |
| ENST00000644399.1:c.4283T>G | ||
| ENST00000645024.1:n.2446T>G | ||
| ENST00000646388.1:c.4362T>G | ENSP00000495921.1:p.Ser1454Arg | |
| ENST00000646634.1:n.3177T>G | ||
| ENST00000646674.1:n.1614T>G | ||
| ENST00000647042.1:n.1585T>G | ||
| ENST00000647180.1:n.1475T>G | ||
| ENST00000219476.7:c.4362T>G | ENSP00000219476.3:p.Ser1454Arg | |
| ENST00000350773.8:c.4293T>G | ENSP00000344383.4:p.Ser1431Arg | |
| ENST00000382538.10:c.4017T>G | ENSP00000371978.6:p.Ser1339Arg | |
| ENST00000401874.6:c.4161T>G | ENSP00000384468.2:p.Ser1387Arg | |
| ENST00000439117.6:c.*3529T>G | ENSP00000406980.2:n.*3529T>G | |
| ENST00000439673.6:c.4053T>G | ENSP00000399232.2:p.Ser1351Arg | |
| ENST00000497886.5:n.2120T>G | ||
| ENST00000568454.5:c.4194T>G | ENSP00000454487.1:p.Ser1398Arg | |
| ENST00000569110.1:c.544T>G | ||
| ENST00000569930.1:n.1477T>G | ||
| NM_000548.3:c.4362T>G , LRG_487t1:c.4362T>G | NP_000539.2:p.Ser1454Arg | |
| NM_001077183.1:c.4161T>G | NP_001070651.1:p.Ser1387Arg | |
| NM_001114382.1:c.4293T>G | NP_001107854.1:p.Ser1431Arg | |
| XM_005255529.3:c.4233T>G | XP_005255586.2:p.Ser1411Arg | |
| XM_005255531.3:c.4164T>G | XP_005255588.2:p.Ser1388Arg | |
| XM_011522636.1:c.4416T>G | XP_011520938.1:p.Ser1472Arg | |
| XM_011522637.1:c.4413T>G | XP_011520939.1:p.Ser1471Arg | |
| XM_011522638.1:c.4305T>G | XP_011520940.1:p.Ser1435Arg | |
| XM_011522639.1:c.4287T>G | XP_011520941.1:p.Ser1429Arg | |
| XM_011522640.1:c.4284T>G | XP_011520942.1:p.Ser1428Arg | |
| XM_011522641.1:c.4053T>G | XP_011520943.1:p.Ser1351Arg | |
| NM_000548.4:c.4362T>G | NP_000539.2:p.Ser1454Arg | |
| NM_001077183.2:c.4161T>G | NP_001070651.1:p.Ser1387Arg | |
| NM_001114382.2:c.4293T>G | NP_001107854.1:p.Ser1431Arg | |
| NM_001318827.1:c.4053T>G | NP_001305756.1:p.Ser1351Arg | |
| NM_001318829.1:c.4017T>G | NP_001305758.1:p.Ser1339Arg | |
| NM_001318831.1:c.3630T>G | NP_001305760.1:p.Ser1210Arg | |
| NM_001318832.1:c.4194T>G | NP_001305761.1:p.Ser1398Arg | |
| NM_001363528.1:c.4164T>G | NP_001350457.1:p.Ser1388Arg | |
| NM_021055.2:c.4233T>G | NP_066399.2:p.Ser1411Arg | |
| XM_005255531.4:c.4164T>G | XP_005255588.2:p.Ser1388Arg | |
| XM_011522636.2:c.4416T>G | XP_011520938.1:p.Ser1472Arg | |
| XM_011522637.2:c.4413T>G | XP_011520939.1:p.Ser1471Arg | |
| XM_011522638.2:c.4578T>G | XP_011520940.2:p.Ser1526Arg | |
| XM_011522639.2:c.4287T>G | XP_011520941.1:p.Ser1429Arg | |
| XM_011522640.2:c.4284T>G | XP_011520942.1:p.Ser1428Arg | |
| XM_017023615.1:c.4359T>G | XP_016879104.1:p.Ser1453Arg | |
| XM_017023616.1:c.4230T>G | XP_016879105.1:p.Ser1410Arg | |
| XM_017023617.1:c.4326T>G | XP_016879106.1:p.Ser1442Arg | |
| XM_017023618.1:c.3072T>G | XP_016879107.1:p.Ser1024Arg | |
| XM_024450413.1:c.4161T>G | XP_024306181.1:p.Ser1387Arg | |
| NM_000548.5:c.4362T>G MANE Select | NP_000539.2:p.Ser1454Arg | |
| NM_001370404.1:c.4230T>G | NP_001357333.1:p.Ser1410Arg | |
| NM_001370405.1:c.4233T>G | NP_001357334.1:p.Ser1411Arg | |
| NM_001077183.3:c.4161T>G | NP_001070651.1:p.Ser1387Arg | |
| NM_001114382.3:c.4293T>G | NP_001107854.1:p.Ser1431Arg | |
| NM_001318827.2:c.4053T>G | NP_001305756.1:p.Ser1351Arg | |
| NM_001318829.2:c.4017T>G | NP_001305758.1:p.Ser1339Arg | |
| NM_001318831.2:c.3630T>G | NP_001305760.1:p.Ser1210Arg | |
| NM_001318832.2:c.4194T>G | NP_001305761.1:p.Ser1398Arg | |
| NM_001363528.2:c.4164T>G | NP_001350457.1:p.Ser1388Arg | |
| NM_021055.3:c.4233T>G | NP_066399.2:p.Ser1411Arg |