Linked Data
ClinVar Variation Id:
486629
dbSNP Id:
rs767495365
ExAC:
16:2133770 G / A
gnomAD v2:
16-2133770-G-A
gnomAD v3:
16-2083769-G-A
gnomAD v4:
16-2083769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083769G>A , CM000678.2:g.2083769G>A | GRCh38 |
| NC_000016.9:g.2133770G>A , CM000678.1:g.2133770G>A | GRCh37 |
| NC_000016.8:g.2073771G>A | NCBI36 |
| NG_005895.1:g.39464G>A , LRG_487:g.39464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2307G>A | ENSP00000455997.2:n.*2307G>A | |
| ENST00000642206.2:c.3805G>A | ENSP00000495146.2:p.Val1269Ile | |
| ENST00000642365.2:c.3955G>A | ENSP00000495459.2:p.Val1319Ile | |
| ENST00000644417.2:c.*4338G>A | ENSP00000493912.2:n.*4338G>A | |
| ENST00000646464.2:c.*6707G>A | ENSP00000496610.2:n.*6707G>A | |
| ENST00000219476.9:c.3958G>A MANE Select | ENSP00000219476.3:p.Val1320Ile | |
| ENST00000350773.9:c.3889G>A | ENSP00000344383.4:p.Val1297Ile | |
| ENST00000401874.7:c.3757G>A | ENSP00000384468.2:p.Val1253Ile | |
| ENST00000568454.6:c.3790G>A | ENSP00000454487.1:p.Val1264Ile | |
| ENST00000569110.2:c.194G>A | ||
| ENST00000569930.2:n.1840G>A | ||
| ENST00000642365.1:c.2612G>A | ||
| ENST00000642561.1:c.3829G>A | ENSP00000495099.1:p.Val1277Ile | |
| ENST00000642728.1:n.140G>A | ||
| ENST00000642797.1:c.3760G>A | ENSP00000493846.1:p.Val1254Ile | |
| ENST00000642936.1:c.3826G>A | ENSP00000494514.1:p.Val1276Ile | |
| ENST00000643088.1:c.3757G>A | ENSP00000494747.1:p.Val1253Ile | |
| ENST00000643426.1:n.1606G>A | ||
| ENST00000643533.1:n.399G>A | ||
| ENST00000643946.1:c.3889G>A | ENSP00000495927.1:p.Val1297Ile | |
| ENST00000644043.1:c.3829G>A | ENSP00000496262.1:p.Val1277Ile | |
| ENST00000644329.1:c.3757G>A | ENSP00000496611.1:p.Val1253Ile | |
| ENST00000644335.1:c.3760G>A | ENSP00000496317.1:p.Val1254Ile | |
| ENST00000644399.1:c.3879G>A | ||
| ENST00000645024.1:n.2042G>A | ||
| ENST00000645186.1:c.201G>A | ||
| ENST00000646388.1:c.3958G>A | ENSP00000495921.1:p.Val1320Ile | |
| ENST00000646634.1:n.2773G>A | ||
| ENST00000646674.1:n.1210G>A | ||
| ENST00000647042.1:n.1181G>A | ||
| ENST00000647180.1:n.1071G>A | ||
| ENST00000219476.7:c.3958G>A | ENSP00000219476.3:p.Val1320Ile | |
| ENST00000350773.8:c.3889G>A | ENSP00000344383.4:p.Val1297Ile | |
| ENST00000382538.10:c.3613G>A | ENSP00000371978.6:p.Val1205Ile | |
| ENST00000401874.6:c.3757G>A | ENSP00000384468.2:p.Val1253Ile | |
| ENST00000439117.6:c.*3125G>A | ENSP00000406980.2:n.*3125G>A | |
| ENST00000439673.6:c.3649G>A | ENSP00000399232.2:p.Val1217Ile | |
| ENST00000497886.5:n.1716G>A | ||
| ENST00000568454.5:c.3790G>A | ENSP00000454487.1:p.Val1264Ile | |
| ENST00000569110.1:c.140G>A | ||
| ENST00000569930.1:n.1073G>A | ||
| NM_000548.3:c.3958G>A , LRG_487t1:c.3958G>A | NP_000539.2:p.Val1320Ile | |
| NM_001077183.1:c.3757G>A | NP_001070651.1:p.Val1253Ile | |
| NM_001114382.1:c.3889G>A | NP_001107854.1:p.Val1297Ile | |
| XM_005255529.3:c.3829G>A | XP_005255586.2:p.Val1277Ile | |
| XM_005255531.3:c.3760G>A | XP_005255588.2:p.Val1254Ile | |
| XM_011522636.1:c.4012G>A | XP_011520938.1:p.Val1338Ile | |
| XM_011522637.1:c.4009G>A | XP_011520939.1:p.Val1337Ile | |
| XM_011522638.1:c.3901G>A | XP_011520940.1:p.Val1301Ile | |
| XM_011522639.1:c.3883G>A | XP_011520941.1:p.Val1295Ile | |
| XM_011522640.1:c.3880G>A | XP_011520942.1:p.Val1294Ile | |
| XM_011522641.1:c.3649G>A | XP_011520943.1:p.Val1217Ile | |
| NM_000548.4:c.3958G>A | NP_000539.2:p.Val1320Ile | |
| NM_001077183.2:c.3757G>A | NP_001070651.1:p.Val1253Ile | |
| NM_001114382.2:c.3889G>A | NP_001107854.1:p.Val1297Ile | |
| NM_001318827.1:c.3649G>A | NP_001305756.1:p.Val1217Ile | |
| NM_001318829.1:c.3613G>A | NP_001305758.1:p.Val1205Ile | |
| NM_001318831.1:c.3226G>A | NP_001305760.1:p.Val1076Ile | |
| NM_001318832.1:c.3790G>A | NP_001305761.1:p.Val1264Ile | |
| NM_001363528.1:c.3760G>A | NP_001350457.1:p.Val1254Ile | |
| NM_021055.2:c.3829G>A | NP_066399.2:p.Val1277Ile | |
| XM_005255531.4:c.3760G>A | XP_005255588.2:p.Val1254Ile | |
| XM_011522636.2:c.4012G>A | XP_011520938.1:p.Val1338Ile | |
| XM_011522637.2:c.4009G>A | XP_011520939.1:p.Val1337Ile | |
| XM_011522638.2:c.4174G>A | XP_011520940.2:p.Val1392Ile | |
| XM_011522639.2:c.3883G>A | XP_011520941.1:p.Val1295Ile | |
| XM_011522640.2:c.3880G>A | XP_011520942.1:p.Val1294Ile | |
| XM_017023615.1:c.3955G>A | XP_016879104.1:p.Val1319Ile | |
| XM_017023616.1:c.3826G>A | XP_016879105.1:p.Val1276Ile | |
| XM_017023617.1:c.3922G>A | XP_016879106.1:p.Val1308Ile | |
| XM_017023618.1:c.2668G>A | XP_016879107.1:p.Val890Ile | |
| XM_024450413.1:c.3757G>A | XP_024306181.1:p.Val1253Ile | |
| NM_000548.5:c.3958G>A MANE Select | NP_000539.2:p.Val1320Ile | |
| NM_001370404.1:c.3826G>A | NP_001357333.1:p.Val1276Ile | |
| NM_001370405.1:c.3829G>A | NP_001357334.1:p.Val1277Ile | |
| NM_001077183.3:c.3757G>A | NP_001070651.1:p.Val1253Ile | |
| NM_001114382.3:c.3889G>A | NP_001107854.1:p.Val1297Ile | |
| NM_001318827.2:c.3649G>A | NP_001305756.1:p.Val1217Ile | |
| NM_001318829.2:c.3613G>A | NP_001305758.1:p.Val1205Ile | |
| NM_001318831.2:c.3226G>A | NP_001305760.1:p.Val1076Ile | |
| NM_001318832.2:c.3790G>A | NP_001305761.1:p.Val1264Ile | |
| NM_001363528.2:c.3760G>A | NP_001350457.1:p.Val1254Ile | |
| NM_021055.3:c.3829G>A | NP_066399.2:p.Val1277Ile |