Linked Data
ClinVar Variation Id:
50124
dbSNP Id:
rs45448791
ExAC:
16:2134536 G / A
gnomAD v2:
16-2134536-G-A
gnomAD v3:
16-2084535-G-A
gnomAD v4:
16-2084535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084535G>A , CM000678.2:g.2084535G>A | GRCh38 |
| NC_000016.9:g.2134536G>A , CM000678.1:g.2134536G>A | GRCh37 |
| NC_000016.8:g.2074537G>A | NCBI36 |
| NG_005895.1:g.40230G>A , LRG_487:g.40230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2662G>A | ENSP00000455997.2:n.*2662G>A | |
| ENST00000642206.2:c.4160G>A | ENSP00000495146.2:p.Arg1387Gln | |
| ENST00000642365.2:c.4310G>A | ENSP00000495459.2:p.Arg1437Gln | |
| ENST00000644417.2:c.*4693G>A | ENSP00000493912.2:n.*4693G>A | |
| ENST00000646464.2:c.*7062G>A | ENSP00000496610.2:n.*7062G>A | |
| ENST00000219476.9:c.4313G>A MANE Select | ENSP00000219476.3:p.Arg1438Gln | |
| ENST00000350773.9:c.4244G>A | ENSP00000344383.4:p.Arg1415Gln | |
| ENST00000401874.7:c.4112G>A | ENSP00000384468.2:p.Arg1371Gln | |
| ENST00000568454.6:c.4145G>A | ENSP00000454487.1:p.Arg1382Gln | |
| ENST00000569110.2:c.549G>A | ||
| ENST00000569930.2:n.2195G>A | ||
| ENST00000642365.1:c.2967G>A | ||
| ENST00000642561.1:c.4184G>A | ENSP00000495099.1:p.Arg1395Gln | |
| ENST00000642728.1:n.495G>A | ||
| ENST00000642797.1:c.4115G>A | ENSP00000493846.1:p.Arg1372Gln | |
| ENST00000642936.1:c.4181G>A | ENSP00000494514.1:p.Arg1394Gln | |
| ENST00000643088.1:c.4112G>A | ENSP00000494747.1:p.Arg1371Gln | |
| ENST00000643177.1:n.327G>A | ||
| ENST00000643426.1:n.1961G>A | ||
| ENST00000643946.1:c.4244G>A | ENSP00000495927.1:p.Arg1415Gln | |
| ENST00000644043.1:c.4184G>A | ENSP00000496262.1:p.Arg1395Gln | |
| ENST00000644329.1:c.4112G>A | ENSP00000496611.1:p.Arg1371Gln | |
| ENST00000644335.1:c.4115G>A | ENSP00000496317.1:p.Arg1372Gln | |
| ENST00000644399.1:c.4234G>A | ||
| ENST00000645024.1:n.2397G>A | ||
| ENST00000646388.1:c.4313G>A | ENSP00000495921.1:p.Arg1438Gln | |
| ENST00000646634.1:n.3128G>A | ||
| ENST00000646674.1:n.1565G>A | ||
| ENST00000647042.1:n.1536G>A | ||
| ENST00000647180.1:n.1426G>A | ||
| ENST00000219476.7:c.4313G>A | ENSP00000219476.3:p.Arg1438Gln | |
| ENST00000350773.8:c.4244G>A | ENSP00000344383.4:p.Arg1415Gln | |
| ENST00000382538.10:c.3968G>A | ENSP00000371978.6:p.Arg1323Gln | |
| ENST00000401874.6:c.4112G>A | ENSP00000384468.2:p.Arg1371Gln | |
| ENST00000439117.6:c.*3480G>A | ENSP00000406980.2:n.*3480G>A | |
| ENST00000439673.6:c.4004G>A | ENSP00000399232.2:p.Arg1335Gln | |
| ENST00000497886.5:n.2071G>A | ||
| ENST00000568454.5:c.4145G>A | ENSP00000454487.1:p.Arg1382Gln | |
| ENST00000569110.1:c.495G>A | ||
| ENST00000569930.1:n.1428G>A | ||
| NM_000548.3:c.4313G>A , LRG_487t1:c.4313G>A | NP_000539.2:p.Arg1438Gln | |
| NM_001077183.1:c.4112G>A | NP_001070651.1:p.Arg1371Gln | |
| NM_001114382.1:c.4244G>A | NP_001107854.1:p.Arg1415Gln | |
| XM_005255529.3:c.4184G>A | XP_005255586.2:p.Arg1395Gln | |
| XM_005255531.3:c.4115G>A | XP_005255588.2:p.Arg1372Gln | |
| XM_011522636.1:c.4367G>A | XP_011520938.1:p.Arg1456Gln | |
| XM_011522637.1:c.4364G>A | XP_011520939.1:p.Arg1455Gln | |
| XM_011522638.1:c.4256G>A | XP_011520940.1:p.Arg1419Gln | |
| XM_011522639.1:c.4238G>A | XP_011520941.1:p.Arg1413Gln | |
| XM_011522640.1:c.4235G>A | XP_011520942.1:p.Arg1412Gln | |
| XM_011522641.1:c.4004G>A | XP_011520943.1:p.Arg1335Gln | |
| NM_000548.4:c.4313G>A | NP_000539.2:p.Arg1438Gln | |
| NM_001077183.2:c.4112G>A | NP_001070651.1:p.Arg1371Gln | |
| NM_001114382.2:c.4244G>A | NP_001107854.1:p.Arg1415Gln | |
| NM_001318827.1:c.4004G>A | NP_001305756.1:p.Arg1335Gln | |
| NM_001318829.1:c.3968G>A | NP_001305758.1:p.Arg1323Gln | |
| NM_001318831.1:c.3581G>A | NP_001305760.1:p.Arg1194Gln | |
| NM_001318832.1:c.4145G>A | NP_001305761.1:p.Arg1382Gln | |
| NM_001363528.1:c.4115G>A | NP_001350457.1:p.Arg1372Gln | |
| NM_021055.2:c.4184G>A | NP_066399.2:p.Arg1395Gln | |
| XM_005255531.4:c.4115G>A | XP_005255588.2:p.Arg1372Gln | |
| XM_011522636.2:c.4367G>A | XP_011520938.1:p.Arg1456Gln | |
| XM_011522637.2:c.4364G>A | XP_011520939.1:p.Arg1455Gln | |
| XM_011522638.2:c.4529G>A | XP_011520940.2:p.Arg1510Gln | |
| XM_011522639.2:c.4238G>A | XP_011520941.1:p.Arg1413Gln | |
| XM_011522640.2:c.4235G>A | XP_011520942.1:p.Arg1412Gln | |
| XM_017023615.1:c.4310G>A | XP_016879104.1:p.Arg1437Gln | |
| XM_017023616.1:c.4181G>A | XP_016879105.1:p.Arg1394Gln | |
| XM_017023617.1:c.4277G>A | XP_016879106.1:p.Arg1426Gln | |
| XM_017023618.1:c.3023G>A | XP_016879107.1:p.Arg1008Gln | |
| XM_024450413.1:c.4112G>A | XP_024306181.1:p.Arg1371Gln | |
| NM_000548.5:c.4313G>A MANE Select | NP_000539.2:p.Arg1438Gln | |
| NM_001370404.1:c.4181G>A | NP_001357333.1:p.Arg1394Gln | |
| NM_001370405.1:c.4184G>A | NP_001357334.1:p.Arg1395Gln | |
| NM_001077183.3:c.4112G>A | NP_001070651.1:p.Arg1371Gln | |
| NM_001114382.3:c.4244G>A | NP_001107854.1:p.Arg1415Gln | |
| NM_001318827.2:c.4004G>A | NP_001305756.1:p.Arg1335Gln | |
| NM_001318829.2:c.3968G>A | NP_001305758.1:p.Arg1323Gln | |
| NM_001318831.2:c.3581G>A | NP_001305760.1:p.Arg1194Gln | |
| NM_001318832.2:c.4145G>A | NP_001305761.1:p.Arg1382Gln | |
| NM_001363528.2:c.4115G>A | NP_001350457.1:p.Arg1372Gln | |
| NM_021055.3:c.4184G>A | NP_066399.2:p.Arg1395Gln |