Linked Data
ClinVar Variation Id:
406068
dbSNP Id:
rs397515318
ExAC:
16:2138449 C / G
gnomAD v2:
16-2138449-C-G
gnomAD v3:
16-2088448-C-G
gnomAD v4:
16-2088448-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088448C>G , CM000678.2:g.2088448C>G | GRCh38 |
| NC_000016.9:g.2138449C>G , CM000678.1:g.2138449C>G | GRCh37 |
| NC_000016.8:g.2078450C>G | NCBI36 |
| NG_005895.1:g.44143C>G , LRG_487:g.44143C>G | |
| NG_008617.1:g.54773G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3611C>G | ENSP00000455997.2:n.*3611C>G | |
| ENST00000642206.2:c.5109C>G | ENSP00000495146.2:p.Ile1703Met | |
| ENST00000642365.2:c.5259C>G | ENSP00000495459.2:p.Ile1753Met | |
| ENST00000644417.2:c.*5775C>G | ENSP00000493912.2:n.*5775C>G | |
| ENST00000646464.2:c.*8011C>G | ENSP00000496610.2:n.*8011C>G | |
| ENST00000219476.9:c.5262C>G MANE Select | ENSP00000219476.3:p.Ile1754Met | |
| ENST00000350773.9:c.5193C>G | ENSP00000344383.4:p.Ile1731Met | |
| ENST00000401874.7:c.5061C>G | ENSP00000384468.2:p.Ile1687Met | |
| ENST00000568454.6:c.5094C>G | ENSP00000454487.1:p.Ile1698Met | |
| ENST00000569110.2:c.1485C>G | ||
| ENST00000569930.2:n.3144C>G | ||
| ENST00000642365.1:c.3916C>G | ||
| ENST00000642561.1:c.5121C>G | ENSP00000495099.1:p.Ile1707Met | |
| ENST00000642791.1:n.859C>G | ||
| ENST00000642797.1:c.5064C>G | ENSP00000493846.1:p.Ile1688Met | |
| ENST00000642936.1:c.5130C>G | ENSP00000494514.1:p.Ile1710Met | |
| ENST00000643088.1:c.5055C>G | ENSP00000494747.1:p.Ile1685Met | |
| ENST00000643426.1:n.2910C>G | ||
| ENST00000643946.1:c.5187C>G | ENSP00000495927.1:p.Ile1729Met | |
| ENST00000644043.1:c.5133C>G | ENSP00000496262.1:p.Ile1711Met | |
| ENST00000644329.1:c.5148C>G | ENSP00000496611.1:p.Ile1716Met | |
| ENST00000644335.1:c.5058C>G | ENSP00000496317.1:p.Ile1686Met | |
| ENST00000644399.1:c.5183C>G | ||
| ENST00000645024.1:n.3346C>G | ||
| ENST00000646388.1:c.5256C>G | ENSP00000495921.1:p.Ile1752Met | |
| ENST00000646634.1:n.4077C>G | ||
| ENST00000646674.1:n.2514C>G | ||
| ENST00000647042.1:n.2485C>G | ||
| ENST00000647180.1:n.2375C>G | ||
| ENST00000219476.7:c.5262C>G | ENSP00000219476.3:p.Ile1754Met | |
| ENST00000350773.8:c.5193C>G | ENSP00000344383.4:p.Ile1731Met | |
| ENST00000382538.10:c.4917C>G | ENSP00000371978.6:p.Ile1639Met | |
| ENST00000401874.6:c.5061C>G | ENSP00000384468.2:p.Ile1687Met | |
| ENST00000439117.6:c.*4429C>G | ENSP00000406980.2:n.*4429C>G | |
| ENST00000439673.6:c.4953C>G | ENSP00000399232.2:p.Ile1651Met | |
| ENST00000497886.5:n.2985C>G | ||
| ENST00000568454.5:c.5094C>G | ENSP00000454487.1:p.Ile1698Met | |
| ENST00000569110.1:c.1444C>G | ||
| ENST00000569930.1:n.2377C>G | ||
| NM_000548.3:c.5262C>G , LRG_487t1:c.5262C>G | NP_000539.2:p.Ile1754Met | |
| NM_001077183.1:c.5061C>G | NP_001070651.1:p.Ile1687Met | |
| NM_001114382.1:c.5193C>G | NP_001107854.1:p.Ile1731Met | |
| XM_005255529.3:c.5133C>G | XP_005255586.2:p.Ile1711Met | |
| XM_005255531.3:c.5064C>G | XP_005255588.2:p.Ile1688Met | |
| XM_011522636.1:c.5316C>G | XP_011520938.1:p.Ile1772Met | |
| XM_011522637.1:c.5313C>G | XP_011520939.1:p.Ile1771Met | |
| XM_011522638.1:c.5205C>G | XP_011520940.1:p.Ile1735Met | |
| XM_011522639.1:c.5187C>G | XP_011520941.1:p.Ile1729Met | |
| XM_011522640.1:c.5184C>G | XP_011520942.1:p.Ile1728Met | |
| XM_011522641.1:c.4953C>G | XP_011520943.1:p.Ile1651Met | |
| NM_000548.4:c.5262C>G | NP_000539.2:p.Ile1754Met | |
| NM_001077183.2:c.5061C>G | NP_001070651.1:p.Ile1687Met | |
| NM_001114382.2:c.5193C>G | NP_001107854.1:p.Ile1731Met | |
| NM_001318827.1:c.4953C>G | NP_001305756.1:p.Ile1651Met | |
| NM_001318829.1:c.4917C>G | NP_001305758.1:p.Ile1639Met | |
| NM_001318831.1:c.4530C>G | NP_001305760.1:p.Ile1510Met | |
| NM_001318832.1:c.5094C>G | NP_001305761.1:p.Ile1698Met | |
| NM_001363528.1:c.5064C>G | NP_001350457.1:p.Ile1688Met | |
| NM_021055.2:c.5133C>G | NP_066399.2:p.Ile1711Met | |
| XM_005255531.4:c.5064C>G | XP_005255588.2:p.Ile1688Met | |
| XM_011522636.2:c.5316C>G | XP_011520938.1:p.Ile1772Met | |
| XM_011522637.2:c.5313C>G | XP_011520939.1:p.Ile1771Met | |
| XM_011522638.2:c.5478C>G | XP_011520940.2:p.Ile1826Met | |
| XM_011522639.2:c.5187C>G | XP_011520941.1:p.Ile1729Met | |
| XM_011522640.2:c.5184C>G | XP_011520942.1:p.Ile1728Met | |
| XM_017023615.1:c.5259C>G | XP_016879104.1:p.Ile1753Met | |
| XM_017023616.1:c.5130C>G | XP_016879105.1:p.Ile1710Met | |
| XM_017023617.1:c.5226C>G | XP_016879106.1:p.Ile1742Met | |
| XM_017023618.1:c.3972C>G | XP_016879107.1:p.Ile1324Met | |
| XM_024450413.1:c.5148C>G | XP_024306181.1:p.Ile1716Met | |
| NM_000548.5:c.5262C>G MANE Select | NP_000539.2:p.Ile1754Met | |
| NM_001370404.1:c.5130C>G | NP_001357333.1:p.Ile1710Met | |
| NM_001370405.1:c.5121C>G | NP_001357334.1:p.Ile1707Met | |
| NM_001077183.3:c.5061C>G | NP_001070651.1:p.Ile1687Met | |
| NM_001114382.3:c.5193C>G | NP_001107854.1:p.Ile1731Met | |
| NM_001318827.2:c.4953C>G | NP_001305756.1:p.Ile1651Met | |
| NM_001318829.2:c.4917C>G | NP_001305758.1:p.Ile1639Met | |
| NM_001318831.2:c.4530C>G | NP_001305760.1:p.Ile1510Met | |
| NM_001318832.2:c.5094C>G | NP_001305761.1:p.Ile1698Met | |
| NM_001363528.2:c.5064C>G | NP_001350457.1:p.Ile1688Met | |
| NM_021055.3:c.5133C>G | NP_066399.2:p.Ile1711Met |