Linked Data
ClinVar Variation Id:
1398100
dbSNP Id:
rs762797016
ExAC:
16:2135252 G / A
gnomAD v2:
16-2135252-G-A
gnomAD v3:
16-2085251-G-A
gnomAD v4:
16-2085251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085251G>A , CM000678.2:g.2085251G>A | GRCh38 |
| NC_000016.9:g.2135252G>A , CM000678.1:g.2135252G>A | GRCh37 |
| NC_000016.8:g.2075253G>A | NCBI36 |
| NG_005895.1:g.40946G>A , LRG_487:g.40946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2940G>A | ENSP00000455997.2:n.*2940G>A | |
| ENST00000642206.2:c.4438G>A | ENSP00000495146.2:p.Val1480Met | |
| ENST00000642365.2:c.4588G>A | ENSP00000495459.2:p.Val1530Met | |
| ENST00000644417.2:c.*4971G>A | ENSP00000493912.2:n.*4971G>A | |
| ENST00000646464.2:c.*7340G>A | ENSP00000496610.2:n.*7340G>A | |
| ENST00000219476.9:c.4591G>A MANE Select | ENSP00000219476.3:p.Val1531Met | |
| ENST00000350773.9:c.4522G>A | ENSP00000344383.4:p.Val1508Met | |
| ENST00000401874.7:c.4390G>A | ENSP00000384468.2:p.Val1464Met | |
| ENST00000568454.6:c.4423G>A | ENSP00000454487.1:p.Val1475Met | |
| ENST00000569110.2:c.814G>A | ||
| ENST00000569930.2:n.2473G>A | ||
| ENST00000642365.1:c.3245G>A | ||
| ENST00000642561.1:c.4462G>A | ENSP00000495099.1:p.Val1488Met | |
| ENST00000642728.1:n.773G>A | ||
| ENST00000642791.1:n.188G>A | ||
| ENST00000642797.1:c.4393G>A | ENSP00000493846.1:p.Val1465Met | |
| ENST00000642936.1:c.4459G>A | ENSP00000494514.1:p.Val1487Met | |
| ENST00000643088.1:c.4384G>A | ENSP00000494747.1:p.Val1462Met | |
| ENST00000643177.1:n.605G>A | ||
| ENST00000643426.1:n.2239G>A | ||
| ENST00000643946.1:c.4516G>A | ENSP00000495927.1:p.Val1506Met | |
| ENST00000644043.1:c.4462G>A | ENSP00000496262.1:p.Val1488Met | |
| ENST00000644278.1:n.73G>A | ||
| ENST00000644329.1:c.4390G>A | ENSP00000496611.1:p.Val1464Met | |
| ENST00000644335.1:c.4387G>A | ENSP00000496317.1:p.Val1463Met | |
| ENST00000644399.1:c.4512G>A | ||
| ENST00000645024.1:n.2675G>A | ||
| ENST00000646388.1:c.4585G>A | ENSP00000495921.1:p.Val1529Met | |
| ENST00000646634.1:n.3406G>A | ||
| ENST00000646674.1:n.1843G>A | ||
| ENST00000647042.1:n.1814G>A | ||
| ENST00000647180.1:n.1704G>A | ||
| ENST00000219476.7:c.4591G>A | ENSP00000219476.3:p.Val1531Met | |
| ENST00000350773.8:c.4522G>A | ENSP00000344383.4:p.Val1508Met | |
| ENST00000382538.10:c.4246G>A | ENSP00000371978.6:p.Val1416Met | |
| ENST00000401874.6:c.4390G>A | ENSP00000384468.2:p.Val1464Met | |
| ENST00000439117.6:c.*3758G>A | ENSP00000406980.2:n.*3758G>A | |
| ENST00000439673.6:c.4282G>A | ENSP00000399232.2:p.Val1428Met | |
| ENST00000497886.5:n.2349G>A | ||
| ENST00000568454.5:c.4423G>A | ENSP00000454487.1:p.Val1475Met | |
| ENST00000569110.1:c.773G>A | ||
| ENST00000569930.1:n.1706G>A | ||
| NM_000548.3:c.4591G>A , LRG_487t1:c.4591G>A | NP_000539.2:p.Val1531Met | |
| NM_001077183.1:c.4390G>A | NP_001070651.1:p.Val1464Met | |
| NM_001114382.1:c.4522G>A | NP_001107854.1:p.Val1508Met | |
| XM_005255529.3:c.4462G>A | XP_005255586.2:p.Val1488Met | |
| XM_005255531.3:c.4393G>A | XP_005255588.2:p.Val1465Met | |
| XM_011522636.1:c.4645G>A | XP_011520938.1:p.Val1549Met | |
| XM_011522637.1:c.4642G>A | XP_011520939.1:p.Val1548Met | |
| XM_011522638.1:c.4534G>A | XP_011520940.1:p.Val1512Met | |
| XM_011522639.1:c.4516G>A | XP_011520941.1:p.Val1506Met | |
| XM_011522640.1:c.4513G>A | XP_011520942.1:p.Val1505Met | |
| XM_011522641.1:c.4282G>A | XP_011520943.1:p.Val1428Met | |
| NM_000548.4:c.4591G>A | NP_000539.2:p.Val1531Met | |
| NM_001077183.2:c.4390G>A | NP_001070651.1:p.Val1464Met | |
| NM_001114382.2:c.4522G>A | NP_001107854.1:p.Val1508Met | |
| NM_001318827.1:c.4282G>A | NP_001305756.1:p.Val1428Met | |
| NM_001318829.1:c.4246G>A | NP_001305758.1:p.Val1416Met | |
| NM_001318831.1:c.3859G>A | NP_001305760.1:p.Val1287Met | |
| NM_001318832.1:c.4423G>A | NP_001305761.1:p.Val1475Met | |
| NM_001363528.1:c.4393G>A | NP_001350457.1:p.Val1465Met | |
| NM_021055.2:c.4462G>A | NP_066399.2:p.Val1488Met | |
| XM_005255531.4:c.4393G>A | XP_005255588.2:p.Val1465Met | |
| XM_011522636.2:c.4645G>A | XP_011520938.1:p.Val1549Met | |
| XM_011522637.2:c.4642G>A | XP_011520939.1:p.Val1548Met | |
| XM_011522638.2:c.4807G>A | XP_011520940.2:p.Val1603Met | |
| XM_011522639.2:c.4516G>A | XP_011520941.1:p.Val1506Met | |
| XM_011522640.2:c.4513G>A | XP_011520942.1:p.Val1505Met | |
| XM_017023615.1:c.4588G>A | XP_016879104.1:p.Val1530Met | |
| XM_017023616.1:c.4459G>A | XP_016879105.1:p.Val1487Met | |
| XM_017023617.1:c.4555G>A | XP_016879106.1:p.Val1519Met | |
| XM_017023618.1:c.3301G>A | XP_016879107.1:p.Val1101Met | |
| XM_024450413.1:c.4390G>A | XP_024306181.1:p.Val1464Met | |
| NM_000548.5:c.4591G>A MANE Select | NP_000539.2:p.Val1531Met | |
| NM_001370404.1:c.4459G>A | NP_001357333.1:p.Val1487Met | |
| NM_001370405.1:c.4462G>A | NP_001357334.1:p.Val1488Met | |
| NM_001077183.3:c.4390G>A | NP_001070651.1:p.Val1464Met | |
| NM_001114382.3:c.4522G>A | NP_001107854.1:p.Val1508Met | |
| NM_001318827.2:c.4282G>A | NP_001305756.1:p.Val1428Met | |
| NM_001318829.2:c.4246G>A | NP_001305758.1:p.Val1416Met | |
| NM_001318831.2:c.3859G>A | NP_001305760.1:p.Val1287Met | |
| NM_001318832.2:c.4423G>A | NP_001305761.1:p.Val1475Met | |
| NM_001363528.2:c.4393G>A | NP_001350457.1:p.Val1465Met | |
| NM_021055.3:c.4462G>A | NP_066399.2:p.Val1488Met |