Linked Data
ClinVar Variation Id:
448730
dbSNP Id:
rs754680848
ExAC:
16:2133786 G / A
gnomAD v2:
16-2133786-G-A
gnomAD v4:
16-2083785-G-A
PubMed:
PMID:22558107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083785G>A , CM000678.2:g.2083785G>A | GRCh38 |
| NC_000016.9:g.2133786G>A , CM000678.1:g.2133786G>A | GRCh37 |
| NC_000016.8:g.2073787G>A | NCBI36 |
| NG_005895.1:g.39480G>A , LRG_487:g.39480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2323G>A | ENSP00000455997.2:n.*2323G>A | |
| ENST00000642206.2:c.3821G>A | ENSP00000495146.2:p.Gly1274Asp | |
| ENST00000642365.2:c.3971G>A | ENSP00000495459.2:p.Gly1324Asp | |
| ENST00000644417.2:c.*4354G>A | ENSP00000493912.2:n.*4354G>A | |
| ENST00000646464.2:c.*6723G>A | ENSP00000496610.2:n.*6723G>A | |
| ENST00000219476.9:c.3974G>A MANE Select | ENSP00000219476.3:p.Gly1325Asp | |
| ENST00000350773.9:c.3905G>A | ENSP00000344383.4:p.Gly1302Asp | |
| ENST00000401874.7:c.3773G>A | ENSP00000384468.2:p.Gly1258Asp | |
| ENST00000568454.6:c.3806G>A | ENSP00000454487.1:p.Gly1269Asp | |
| ENST00000569110.2:c.210G>A | ||
| ENST00000569930.2:n.1856G>A | ||
| ENST00000642365.1:c.2628G>A | ||
| ENST00000642561.1:c.3845G>A | ENSP00000495099.1:p.Gly1282Asp | |
| ENST00000642728.1:n.156G>A | ||
| ENST00000642797.1:c.3776G>A | ENSP00000493846.1:p.Gly1259Asp | |
| ENST00000642936.1:c.3842G>A | ENSP00000494514.1:p.Gly1281Asp | |
| ENST00000643088.1:c.3773G>A | ENSP00000494747.1:p.Gly1258Asp | |
| ENST00000643426.1:n.1622G>A | ||
| ENST00000643533.1:n.415G>A | ||
| ENST00000643946.1:c.3905G>A | ENSP00000495927.1:p.Gly1302Asp | |
| ENST00000644043.1:c.3845G>A | ENSP00000496262.1:p.Gly1282Asp | |
| ENST00000644329.1:c.3773G>A | ENSP00000496611.1:p.Gly1258Asp | |
| ENST00000644335.1:c.3776G>A | ENSP00000496317.1:p.Gly1259Asp | |
| ENST00000644399.1:c.3895G>A | ||
| ENST00000645024.1:n.2058G>A | ||
| ENST00000645186.1:c.217G>A | ||
| ENST00000646388.1:c.3974G>A | ENSP00000495921.1:p.Gly1325Asp | |
| ENST00000646634.1:n.2789G>A | ||
| ENST00000646674.1:n.1226G>A | ||
| ENST00000647042.1:n.1197G>A | ||
| ENST00000647180.1:n.1087G>A | ||
| ENST00000219476.7:c.3974G>A | ENSP00000219476.3:p.Gly1325Asp | |
| ENST00000350773.8:c.3905G>A | ENSP00000344383.4:p.Gly1302Asp | |
| ENST00000382538.10:c.3629G>A | ENSP00000371978.6:p.Gly1210Asp | |
| ENST00000401874.6:c.3773G>A | ENSP00000384468.2:p.Gly1258Asp | |
| ENST00000439117.6:c.*3141G>A | ENSP00000406980.2:n.*3141G>A | |
| ENST00000439673.6:c.3665G>A | ENSP00000399232.2:p.Gly1222Asp | |
| ENST00000497886.5:n.1732G>A | ||
| ENST00000568454.5:c.3806G>A | ENSP00000454487.1:p.Gly1269Asp | |
| ENST00000569110.1:c.156G>A | ||
| ENST00000569930.1:n.1089G>A | ||
| NM_000548.3:c.3974G>A , LRG_487t1:c.3974G>A | NP_000539.2:p.Gly1325Asp | |
| NM_001077183.1:c.3773G>A | NP_001070651.1:p.Gly1258Asp | |
| NM_001114382.1:c.3905G>A | NP_001107854.1:p.Gly1302Asp | |
| XM_005255529.3:c.3845G>A | XP_005255586.2:p.Gly1282Asp | |
| XM_005255531.3:c.3776G>A | XP_005255588.2:p.Gly1259Asp | |
| XM_011522636.1:c.4028G>A | XP_011520938.1:p.Gly1343Asp | |
| XM_011522637.1:c.4025G>A | XP_011520939.1:p.Gly1342Asp | |
| XM_011522638.1:c.3917G>A | XP_011520940.1:p.Gly1306Asp | |
| XM_011522639.1:c.3899G>A | XP_011520941.1:p.Gly1300Asp | |
| XM_011522640.1:c.3896G>A | XP_011520942.1:p.Gly1299Asp | |
| XM_011522641.1:c.3665G>A | XP_011520943.1:p.Gly1222Asp | |
| NM_000548.4:c.3974G>A | NP_000539.2:p.Gly1325Asp | |
| NM_001077183.2:c.3773G>A | NP_001070651.1:p.Gly1258Asp | |
| NM_001114382.2:c.3905G>A | NP_001107854.1:p.Gly1302Asp | |
| NM_001318827.1:c.3665G>A | NP_001305756.1:p.Gly1222Asp | |
| NM_001318829.1:c.3629G>A | NP_001305758.1:p.Gly1210Asp | |
| NM_001318831.1:c.3242G>A | NP_001305760.1:p.Gly1081Asp | |
| NM_001318832.1:c.3806G>A | NP_001305761.1:p.Gly1269Asp | |
| NM_001363528.1:c.3776G>A | NP_001350457.1:p.Gly1259Asp | |
| NM_021055.2:c.3845G>A | NP_066399.2:p.Gly1282Asp | |
| XM_005255531.4:c.3776G>A | XP_005255588.2:p.Gly1259Asp | |
| XM_011522636.2:c.4028G>A | XP_011520938.1:p.Gly1343Asp | |
| XM_011522637.2:c.4025G>A | XP_011520939.1:p.Gly1342Asp | |
| XM_011522638.2:c.4190G>A | XP_011520940.2:p.Gly1397Asp | |
| XM_011522639.2:c.3899G>A | XP_011520941.1:p.Gly1300Asp | |
| XM_011522640.2:c.3896G>A | XP_011520942.1:p.Gly1299Asp | |
| XM_017023615.1:c.3971G>A | XP_016879104.1:p.Gly1324Asp | |
| XM_017023616.1:c.3842G>A | XP_016879105.1:p.Gly1281Asp | |
| XM_017023617.1:c.3938G>A | XP_016879106.1:p.Gly1313Asp | |
| XM_017023618.1:c.2684G>A | XP_016879107.1:p.Gly895Asp | |
| XM_024450413.1:c.3773G>A | XP_024306181.1:p.Gly1258Asp | |
| NM_000548.5:c.3974G>A MANE Select | NP_000539.2:p.Gly1325Asp | |
| NM_001370404.1:c.3842G>A | NP_001357333.1:p.Gly1281Asp | |
| NM_001370405.1:c.3845G>A | NP_001357334.1:p.Gly1282Asp | |
| NM_001077183.3:c.3773G>A | NP_001070651.1:p.Gly1258Asp | |
| NM_001114382.3:c.3905G>A | NP_001107854.1:p.Gly1302Asp | |
| NM_001318827.2:c.3665G>A | NP_001305756.1:p.Gly1222Asp | |
| NM_001318829.2:c.3629G>A | NP_001305758.1:p.Gly1210Asp | |
| NM_001318831.2:c.3242G>A | NP_001305760.1:p.Gly1081Asp | |
| NM_001318832.2:c.3806G>A | NP_001305761.1:p.Gly1269Asp | |
| NM_001363528.2:c.3776G>A | NP_001350457.1:p.Gly1259Asp | |
| NM_021055.3:c.3845G>A | NP_066399.2:p.Gly1282Asp |