Linked Data
ClinVar Variation Id:
468075
dbSNP Id:
rs763497329
ExAC:
16:2134496 G / A
gnomAD v2:
16-2134496-G-A
gnomAD v3:
16-2084495-G-A
gnomAD v4:
16-2084495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084495G>A , CM000678.2:g.2084495G>A | GRCh38 |
| NC_000016.9:g.2134496G>A , CM000678.1:g.2134496G>A | GRCh37 |
| NC_000016.8:g.2074497G>A | NCBI36 |
| NG_005895.1:g.40190G>A , LRG_487:g.40190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2622G>A | ENSP00000455997.2:n.*2622G>A | |
| ENST00000642206.2:c.4120G>A | ENSP00000495146.2:p.Gly1374Arg | |
| ENST00000642365.2:c.4270G>A | ENSP00000495459.2:p.Gly1424Arg | |
| ENST00000644417.2:c.*4653G>A | ENSP00000493912.2:n.*4653G>A | |
| ENST00000646464.2:c.*7022G>A | ENSP00000496610.2:n.*7022G>A | |
| ENST00000219476.9:c.4273G>A MANE Select | ENSP00000219476.3:p.Gly1425Arg | |
| ENST00000350773.9:c.4204G>A | ENSP00000344383.4:p.Gly1402Arg | |
| ENST00000401874.7:c.4072G>A | ENSP00000384468.2:p.Gly1358Arg | |
| ENST00000568454.6:c.4105G>A | ENSP00000454487.1:p.Gly1369Arg | |
| ENST00000569110.2:c.509G>A | ||
| ENST00000569930.2:n.2155G>A | ||
| ENST00000642365.1:c.2927G>A | ||
| ENST00000642561.1:c.4144G>A | ENSP00000495099.1:p.Gly1382Arg | |
| ENST00000642728.1:n.455G>A | ||
| ENST00000642797.1:c.4075G>A | ENSP00000493846.1:p.Gly1359Arg | |
| ENST00000642936.1:c.4141G>A | ENSP00000494514.1:p.Gly1381Arg | |
| ENST00000643088.1:c.4072G>A | ENSP00000494747.1:p.Gly1358Arg | |
| ENST00000643177.1:n.287G>A | ||
| ENST00000643426.1:n.1921G>A | ||
| ENST00000643946.1:c.4204G>A | ENSP00000495927.1:p.Gly1402Arg | |
| ENST00000644043.1:c.4144G>A | ENSP00000496262.1:p.Gly1382Arg | |
| ENST00000644329.1:c.4072G>A | ENSP00000496611.1:p.Gly1358Arg | |
| ENST00000644335.1:c.4075G>A | ENSP00000496317.1:p.Gly1359Arg | |
| ENST00000644399.1:c.4194G>A | ||
| ENST00000645024.1:n.2357G>A | ||
| ENST00000645186.1:c.516G>A | ||
| ENST00000646388.1:c.4273G>A | ENSP00000495921.1:p.Gly1425Arg | |
| ENST00000646634.1:n.3088G>A | ||
| ENST00000646674.1:n.1525G>A | ||
| ENST00000647042.1:n.1496G>A | ||
| ENST00000647180.1:n.1386G>A | ||
| ENST00000219476.7:c.4273G>A | ENSP00000219476.3:p.Gly1425Arg | |
| ENST00000350773.8:c.4204G>A | ENSP00000344383.4:p.Gly1402Arg | |
| ENST00000382538.10:c.3928G>A | ENSP00000371978.6:p.Gly1310Arg | |
| ENST00000401874.6:c.4072G>A | ENSP00000384468.2:p.Gly1358Arg | |
| ENST00000439117.6:c.*3440G>A | ENSP00000406980.2:n.*3440G>A | |
| ENST00000439673.6:c.3964G>A | ENSP00000399232.2:p.Gly1322Arg | |
| ENST00000497886.5:n.2031G>A | ||
| ENST00000568454.5:c.4105G>A | ENSP00000454487.1:p.Gly1369Arg | |
| ENST00000569110.1:c.455G>A | ||
| ENST00000569930.1:n.1388G>A | ||
| NM_000548.3:c.4273G>A , LRG_487t1:c.4273G>A | NP_000539.2:p.Gly1425Arg | |
| NM_001077183.1:c.4072G>A | NP_001070651.1:p.Gly1358Arg | |
| NM_001114382.1:c.4204G>A | NP_001107854.1:p.Gly1402Arg | |
| XM_005255529.3:c.4144G>A | XP_005255586.2:p.Gly1382Arg | |
| XM_005255531.3:c.4075G>A | XP_005255588.2:p.Gly1359Arg | |
| XM_011522636.1:c.4327G>A | XP_011520938.1:p.Gly1443Arg | |
| XM_011522637.1:c.4324G>A | XP_011520939.1:p.Gly1442Arg | |
| XM_011522638.1:c.4216G>A | XP_011520940.1:p.Gly1406Arg | |
| XM_011522639.1:c.4198G>A | XP_011520941.1:p.Gly1400Arg | |
| XM_011522640.1:c.4195G>A | XP_011520942.1:p.Gly1399Arg | |
| XM_011522641.1:c.3964G>A | XP_011520943.1:p.Gly1322Arg | |
| NM_000548.4:c.4273G>A | NP_000539.2:p.Gly1425Arg | |
| NM_001077183.2:c.4072G>A | NP_001070651.1:p.Gly1358Arg | |
| NM_001114382.2:c.4204G>A | NP_001107854.1:p.Gly1402Arg | |
| NM_001318827.1:c.3964G>A | NP_001305756.1:p.Gly1322Arg | |
| NM_001318829.1:c.3928G>A | NP_001305758.1:p.Gly1310Arg | |
| NM_001318831.1:c.3541G>A | NP_001305760.1:p.Gly1181Arg | |
| NM_001318832.1:c.4105G>A | NP_001305761.1:p.Gly1369Arg | |
| NM_001363528.1:c.4075G>A | NP_001350457.1:p.Gly1359Arg | |
| NM_021055.2:c.4144G>A | NP_066399.2:p.Gly1382Arg | |
| XM_005255531.4:c.4075G>A | XP_005255588.2:p.Gly1359Arg | |
| XM_011522636.2:c.4327G>A | XP_011520938.1:p.Gly1443Arg | |
| XM_011522637.2:c.4324G>A | XP_011520939.1:p.Gly1442Arg | |
| XM_011522638.2:c.4489G>A | XP_011520940.2:p.Gly1497Arg | |
| XM_011522639.2:c.4198G>A | XP_011520941.1:p.Gly1400Arg | |
| XM_011522640.2:c.4195G>A | XP_011520942.1:p.Gly1399Arg | |
| XM_017023615.1:c.4270G>A | XP_016879104.1:p.Gly1424Arg | |
| XM_017023616.1:c.4141G>A | XP_016879105.1:p.Gly1381Arg | |
| XM_017023617.1:c.4237G>A | XP_016879106.1:p.Gly1413Arg | |
| XM_017023618.1:c.2983G>A | XP_016879107.1:p.Gly995Arg | |
| XM_024450413.1:c.4072G>A | XP_024306181.1:p.Gly1358Arg | |
| NM_000548.5:c.4273G>A MANE Select | NP_000539.2:p.Gly1425Arg | |
| NM_001370404.1:c.4141G>A | NP_001357333.1:p.Gly1381Arg | |
| NM_001370405.1:c.4144G>A | NP_001357334.1:p.Gly1382Arg | |
| NM_001077183.3:c.4072G>A | NP_001070651.1:p.Gly1358Arg | |
| NM_001114382.3:c.4204G>A | NP_001107854.1:p.Gly1402Arg | |
| NM_001318827.2:c.3964G>A | NP_001305756.1:p.Gly1322Arg | |
| NM_001318829.2:c.3928G>A | NP_001305758.1:p.Gly1310Arg | |
| NM_001318831.2:c.3541G>A | NP_001305760.1:p.Gly1181Arg | |
| NM_001318832.2:c.4105G>A | NP_001305761.1:p.Gly1369Arg | |
| NM_001363528.2:c.4075G>A | NP_001350457.1:p.Gly1359Arg | |
| NM_021055.3:c.4144G>A | NP_066399.2:p.Gly1382Arg |