Linked Data
ClinVar Variation Id:
207749
dbSNP Id:
rs149340262
ExAC:
16:2133751 G / T
gnomAD v2:
16-2133751-G-T
gnomAD v3:
16-2083750-G-T
gnomAD v4:
16-2083750-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083750G>T , CM000678.2:g.2083750G>T | GRCh38 |
| NC_000016.9:g.2133751G>T , CM000678.1:g.2133751G>T | GRCh37 |
| NC_000016.8:g.2073752G>T | NCBI36 |
| NG_005895.1:g.39445G>T , LRG_487:g.39445G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2288G>T | ENSP00000455997.2:n.*2288G>T | |
| ENST00000642206.2:c.3786G>T | ENSP00000495146.2:p.Glu1262Asp | |
| ENST00000642365.2:c.3936G>T | ENSP00000495459.2:p.Glu1312Asp | |
| ENST00000644417.2:c.*4319G>T | ENSP00000493912.2:n.*4319G>T | |
| ENST00000646464.2:c.*6688G>T | ENSP00000496610.2:n.*6688G>T | |
| ENST00000219476.9:c.3939G>T MANE Select | ENSP00000219476.3:p.Glu1313Asp | |
| ENST00000350773.9:c.3870G>T | ENSP00000344383.4:p.Glu1290Asp | |
| ENST00000401874.7:c.3738G>T | ENSP00000384468.2:p.Glu1246Asp | |
| ENST00000568454.6:c.3771G>T | ENSP00000454487.1:p.Glu1257Asp | |
| ENST00000569110.2:c.175G>T | ||
| ENST00000569930.2:n.1821G>T | ||
| ENST00000642365.1:c.2593G>T | ||
| ENST00000642561.1:c.3810G>T | ENSP00000495099.1:p.Glu1270Asp | |
| ENST00000642728.1:n.121G>T | ||
| ENST00000642797.1:c.3741G>T | ENSP00000493846.1:p.Glu1247Asp | |
| ENST00000642936.1:c.3807G>T | ENSP00000494514.1:p.Glu1269Asp | |
| ENST00000643088.1:c.3738G>T | ENSP00000494747.1:p.Glu1246Asp | |
| ENST00000643426.1:n.1587G>T | ||
| ENST00000643533.1:n.380G>T | ||
| ENST00000643946.1:c.3870G>T | ENSP00000495927.1:p.Glu1290Asp | |
| ENST00000644043.1:c.3810G>T | ENSP00000496262.1:p.Glu1270Asp | |
| ENST00000644329.1:c.3738G>T | ENSP00000496611.1:p.Glu1246Asp | |
| ENST00000644335.1:c.3741G>T | ENSP00000496317.1:p.Glu1247Asp | |
| ENST00000644399.1:c.3860G>T | ||
| ENST00000645024.1:n.2023G>T | ||
| ENST00000645186.1:c.182G>T | ||
| ENST00000646388.1:c.3939G>T | ENSP00000495921.1:p.Glu1313Asp | |
| ENST00000646634.1:n.2754G>T | ||
| ENST00000646674.1:n.1191G>T | ||
| ENST00000647042.1:n.1162G>T | ||
| ENST00000647180.1:n.1052G>T | ||
| ENST00000219476.7:c.3939G>T | ENSP00000219476.3:p.Glu1313Asp | |
| ENST00000350773.8:c.3870G>T | ENSP00000344383.4:p.Glu1290Asp | |
| ENST00000382538.10:c.3594G>T | ENSP00000371978.6:p.Glu1198Asp | |
| ENST00000401874.6:c.3738G>T | ENSP00000384468.2:p.Glu1246Asp | |
| ENST00000439117.6:c.*3106G>T | ENSP00000406980.2:n.*3106G>T | |
| ENST00000439673.6:c.3630G>T | ENSP00000399232.2:p.Glu1210Asp | |
| ENST00000497886.5:n.1697G>T | ||
| ENST00000568454.5:c.3771G>T | ENSP00000454487.1:p.Glu1257Asp | |
| ENST00000569110.1:c.121G>T | ||
| ENST00000569930.1:n.1054G>T | ||
| NM_000548.3:c.3939G>T , LRG_487t1:c.3939G>T | NP_000539.2:p.Glu1313Asp | |
| NM_001077183.1:c.3738G>T | NP_001070651.1:p.Glu1246Asp | |
| NM_001114382.1:c.3870G>T | NP_001107854.1:p.Glu1290Asp | |
| XM_005255529.3:c.3810G>T | XP_005255586.2:p.Glu1270Asp | |
| XM_005255531.3:c.3741G>T | XP_005255588.2:p.Glu1247Asp | |
| XM_011522636.1:c.3993G>T | XP_011520938.1:p.Glu1331Asp | |
| XM_011522637.1:c.3990G>T | XP_011520939.1:p.Glu1330Asp | |
| XM_011522638.1:c.3882G>T | XP_011520940.1:p.Glu1294Asp | |
| XM_011522639.1:c.3864G>T | XP_011520941.1:p.Glu1288Asp | |
| XM_011522640.1:c.3861G>T | XP_011520942.1:p.Glu1287Asp | |
| XM_011522641.1:c.3630G>T | XP_011520943.1:p.Glu1210Asp | |
| NM_000548.4:c.3939G>T | NP_000539.2:p.Glu1313Asp | |
| NM_001077183.2:c.3738G>T | NP_001070651.1:p.Glu1246Asp | |
| NM_001114382.2:c.3870G>T | NP_001107854.1:p.Glu1290Asp | |
| NM_001318827.1:c.3630G>T | NP_001305756.1:p.Glu1210Asp | |
| NM_001318829.1:c.3594G>T | NP_001305758.1:p.Glu1198Asp | |
| NM_001318831.1:c.3207G>T | NP_001305760.1:p.Glu1069Asp | |
| NM_001318832.1:c.3771G>T | NP_001305761.1:p.Glu1257Asp | |
| NM_001363528.1:c.3741G>T | NP_001350457.1:p.Glu1247Asp | |
| NM_021055.2:c.3810G>T | NP_066399.2:p.Glu1270Asp | |
| XM_005255531.4:c.3741G>T | XP_005255588.2:p.Glu1247Asp | |
| XM_011522636.2:c.3993G>T | XP_011520938.1:p.Glu1331Asp | |
| XM_011522637.2:c.3990G>T | XP_011520939.1:p.Glu1330Asp | |
| XM_011522638.2:c.4155G>T | XP_011520940.2:p.Glu1385Asp | |
| XM_011522639.2:c.3864G>T | XP_011520941.1:p.Glu1288Asp | |
| XM_011522640.2:c.3861G>T | XP_011520942.1:p.Glu1287Asp | |
| XM_017023615.1:c.3936G>T | XP_016879104.1:p.Glu1312Asp | |
| XM_017023616.1:c.3807G>T | XP_016879105.1:p.Glu1269Asp | |
| XM_017023617.1:c.3903G>T | XP_016879106.1:p.Glu1301Asp | |
| XM_017023618.1:c.2649G>T | XP_016879107.1:p.Glu883Asp | |
| XM_024450413.1:c.3738G>T | XP_024306181.1:p.Glu1246Asp | |
| NM_000548.5:c.3939G>T MANE Select | NP_000539.2:p.Glu1313Asp | |
| NM_001370404.1:c.3807G>T | NP_001357333.1:p.Glu1269Asp | |
| NM_001370405.1:c.3810G>T | NP_001357334.1:p.Glu1270Asp | |
| NM_001077183.3:c.3738G>T | NP_001070651.1:p.Glu1246Asp | |
| NM_001114382.3:c.3870G>T | NP_001107854.1:p.Glu1290Asp | |
| NM_001318827.2:c.3630G>T | NP_001305756.1:p.Glu1210Asp | |
| NM_001318829.2:c.3594G>T | NP_001305758.1:p.Glu1198Asp | |
| NM_001318831.2:c.3207G>T | NP_001305760.1:p.Glu1069Asp | |
| NM_001318832.2:c.3771G>T | NP_001305761.1:p.Glu1257Asp | |
| NM_001363528.2:c.3741G>T | NP_001350457.1:p.Glu1247Asp | |
| NM_021055.3:c.3810G>T | NP_066399.2:p.Glu1270Asp |