Linked Data
ClinVar Variation Id:
535922
dbSNP Id:
rs397514997
ExAC:
16:2134301 G / A
gnomAD v2:
16-2134301-G-A
gnomAD v3:
16-2084300-G-A
gnomAD v4:
16-2084300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084300G>A , CM000678.2:g.2084300G>A | GRCh38 |
| NC_000016.9:g.2134301G>A , CM000678.1:g.2134301G>A | GRCh37 |
| NC_000016.8:g.2074302G>A | NCBI36 |
| NG_005895.1:g.39995G>A , LRG_487:g.39995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2427G>A | ENSP00000455997.2:n.*2427G>A | |
| ENST00000642206.2:c.3925G>A | ENSP00000495146.2:p.Glu1309Lys | |
| ENST00000642365.2:c.4075G>A | ENSP00000495459.2:p.Glu1359Lys | |
| ENST00000644417.2:c.*4458G>A | ENSP00000493912.2:n.*4458G>A | |
| ENST00000646464.2:c.*6827G>A | ENSP00000496610.2:n.*6827G>A | |
| ENST00000219476.9:c.4078G>A MANE Select | ENSP00000219476.3:p.Glu1360Lys | |
| ENST00000350773.9:c.4009G>A | ENSP00000344383.4:p.Glu1337Lys | |
| ENST00000401874.7:c.3877G>A | ENSP00000384468.2:p.Glu1293Lys | |
| ENST00000568454.6:c.3910G>A | ENSP00000454487.1:p.Glu1304Lys | |
| ENST00000569110.2:c.314G>A | ||
| ENST00000569930.2:n.1960G>A | ||
| ENST00000642365.1:c.2732G>A | ||
| ENST00000642561.1:c.3949G>A | ENSP00000495099.1:p.Glu1317Lys | |
| ENST00000642728.1:n.260G>A | ||
| ENST00000642797.1:c.3880G>A | ENSP00000493846.1:p.Glu1294Lys | |
| ENST00000642936.1:c.3946G>A | ENSP00000494514.1:p.Glu1316Lys | |
| ENST00000643088.1:c.3877G>A | ENSP00000494747.1:p.Glu1293Lys | |
| ENST00000643177.1:n.92G>A | ||
| ENST00000643426.1:n.1726G>A | ||
| ENST00000643946.1:c.4009G>A | ENSP00000495927.1:p.Glu1337Lys | |
| ENST00000644043.1:c.3949G>A | ENSP00000496262.1:p.Glu1317Lys | |
| ENST00000644329.1:c.3877G>A | ENSP00000496611.1:p.Glu1293Lys | |
| ENST00000644335.1:c.3880G>A | ENSP00000496317.1:p.Glu1294Lys | |
| ENST00000644399.1:c.3999G>A | ||
| ENST00000645024.1:n.2162G>A | ||
| ENST00000645186.1:c.321G>A | ||
| ENST00000646388.1:c.4078G>A | ENSP00000495921.1:p.Glu1360Lys | |
| ENST00000646634.1:n.2893G>A | ||
| ENST00000646674.1:n.1330G>A | ||
| ENST00000647042.1:n.1301G>A | ||
| ENST00000647180.1:n.1191G>A | ||
| ENST00000219476.7:c.4078G>A | ENSP00000219476.3:p.Glu1360Lys | |
| ENST00000350773.8:c.4009G>A | ENSP00000344383.4:p.Glu1337Lys | |
| ENST00000382538.10:c.3733G>A | ENSP00000371978.6:p.Glu1245Lys | |
| ENST00000401874.6:c.3877G>A | ENSP00000384468.2:p.Glu1293Lys | |
| ENST00000439117.6:c.*3245G>A | ENSP00000406980.2:n.*3245G>A | |
| ENST00000439673.6:c.3769G>A | ENSP00000399232.2:p.Glu1257Lys | |
| ENST00000497886.5:n.1836G>A | ||
| ENST00000568454.5:c.3910G>A | ENSP00000454487.1:p.Glu1304Lys | |
| ENST00000569110.1:c.260G>A | ||
| ENST00000569930.1:n.1193G>A | ||
| NM_000548.3:c.4078G>A , LRG_487t1:c.4078G>A | NP_000539.2:p.Glu1360Lys | |
| NM_001077183.1:c.3877G>A | NP_001070651.1:p.Glu1293Lys | |
| NM_001114382.1:c.4009G>A | NP_001107854.1:p.Glu1337Lys | |
| XM_005255529.3:c.3949G>A | XP_005255586.2:p.Glu1317Lys | |
| XM_005255531.3:c.3880G>A | XP_005255588.2:p.Glu1294Lys | |
| XM_011522636.1:c.4132G>A | XP_011520938.1:p.Glu1378Lys | |
| XM_011522637.1:c.4129G>A | XP_011520939.1:p.Glu1377Lys | |
| XM_011522638.1:c.4021G>A | XP_011520940.1:p.Glu1341Lys | |
| XM_011522639.1:c.4003G>A | XP_011520941.1:p.Glu1335Lys | |
| XM_011522640.1:c.4000G>A | XP_011520942.1:p.Glu1334Lys | |
| XM_011522641.1:c.3769G>A | XP_011520943.1:p.Glu1257Lys | |
| NM_000548.4:c.4078G>A | NP_000539.2:p.Glu1360Lys | |
| NM_001077183.2:c.3877G>A | NP_001070651.1:p.Glu1293Lys | |
| NM_001114382.2:c.4009G>A | NP_001107854.1:p.Glu1337Lys | |
| NM_001318827.1:c.3769G>A | NP_001305756.1:p.Glu1257Lys | |
| NM_001318829.1:c.3733G>A | NP_001305758.1:p.Glu1245Lys | |
| NM_001318831.1:c.3346G>A | NP_001305760.1:p.Glu1116Lys | |
| NM_001318832.1:c.3910G>A | NP_001305761.1:p.Glu1304Lys | |
| NM_001363528.1:c.3880G>A | NP_001350457.1:p.Glu1294Lys | |
| NM_021055.2:c.3949G>A | NP_066399.2:p.Glu1317Lys | |
| XM_005255531.4:c.3880G>A | XP_005255588.2:p.Glu1294Lys | |
| XM_011522636.2:c.4132G>A | XP_011520938.1:p.Glu1378Lys | |
| XM_011522637.2:c.4129G>A | XP_011520939.1:p.Glu1377Lys | |
| XM_011522638.2:c.4294G>A | XP_011520940.2:p.Glu1432Lys | |
| XM_011522639.2:c.4003G>A | XP_011520941.1:p.Glu1335Lys | |
| XM_011522640.2:c.4000G>A | XP_011520942.1:p.Glu1334Lys | |
| XM_017023615.1:c.4075G>A | XP_016879104.1:p.Glu1359Lys | |
| XM_017023616.1:c.3946G>A | XP_016879105.1:p.Glu1316Lys | |
| XM_017023617.1:c.4042G>A | XP_016879106.1:p.Glu1348Lys | |
| XM_017023618.1:c.2788G>A | XP_016879107.1:p.Glu930Lys | |
| XM_024450413.1:c.3877G>A | XP_024306181.1:p.Glu1293Lys | |
| NM_000548.5:c.4078G>A MANE Select | NP_000539.2:p.Glu1360Lys | |
| NM_001370404.1:c.3946G>A | NP_001357333.1:p.Glu1316Lys | |
| NM_001370405.1:c.3949G>A | NP_001357334.1:p.Glu1317Lys | |
| NM_001077183.3:c.3877G>A | NP_001070651.1:p.Glu1293Lys | |
| NM_001114382.3:c.4009G>A | NP_001107854.1:p.Glu1337Lys | |
| NM_001318827.2:c.3769G>A | NP_001305756.1:p.Glu1257Lys | |
| NM_001318829.2:c.3733G>A | NP_001305758.1:p.Glu1245Lys | |
| NM_001318831.2:c.3346G>A | NP_001305760.1:p.Glu1116Lys | |
| NM_001318832.2:c.3910G>A | NP_001305761.1:p.Glu1304Lys | |
| NM_001363528.2:c.3880G>A | NP_001350457.1:p.Glu1294Lys | |
| NM_021055.3:c.3949G>A | NP_066399.2:p.Glu1317Lys |