Linked Data
ClinVar Variation Id:
468115
dbSNP Id:
rs759795928
ExAC:
16:2136354 A / G
gnomAD v2:
16-2136354-A-G
gnomAD v4:
16-2086353-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086353A>G , CM000678.2:g.2086353A>G | GRCh38 |
| NC_000016.9:g.2136354A>G , CM000678.1:g.2136354A>G | GRCh37 |
| NC_000016.8:g.2076355A>G | NCBI36 |
| NG_005895.1:g.42048A>G , LRG_487:g.42048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3172A>G | ENSP00000455997.2:n.*3172A>G | |
| ENST00000642206.2:c.4670A>G | ENSP00000495146.2:p.Tyr1557Cys | |
| ENST00000642365.2:c.4820A>G | ENSP00000495459.2:p.Tyr1607Cys | |
| ENST00000644417.2:c.*5336A>G | ENSP00000493912.2:n.*5336A>G | |
| ENST00000646464.2:c.*7572A>G | ENSP00000496610.2:n.*7572A>G | |
| ENST00000219476.9:c.4823A>G MANE Select | ENSP00000219476.3:p.Tyr1608Cys | |
| ENST00000350773.9:c.4754A>G | ENSP00000344383.4:p.Tyr1585Cys | |
| ENST00000401874.7:c.4622A>G | ENSP00000384468.2:p.Tyr1541Cys | |
| ENST00000568454.6:c.4655A>G | ENSP00000454487.1:p.Tyr1552Cys | |
| ENST00000569110.2:c.1046A>G | ||
| ENST00000569930.2:n.2705A>G | ||
| ENST00000642365.1:c.3477A>G | ||
| ENST00000642561.1:c.4694A>G | ENSP00000495099.1:p.Tyr1565Cys | |
| ENST00000642728.1:n.1005A>G | ||
| ENST00000642791.1:n.420A>G | ||
| ENST00000642797.1:c.4625A>G | ENSP00000493846.1:p.Tyr1542Cys | |
| ENST00000642936.1:c.4691A>G | ENSP00000494514.1:p.Tyr1564Cys | |
| ENST00000643088.1:c.4616A>G | ENSP00000494747.1:p.Tyr1539Cys | |
| ENST00000643177.1:n.837A>G | ||
| ENST00000643426.1:n.2471A>G | ||
| ENST00000643946.1:c.4748A>G | ENSP00000495927.1:p.Tyr1583Cys | |
| ENST00000644043.1:c.4694A>G | ENSP00000496262.1:p.Tyr1565Cys | |
| ENST00000644278.1:n.305A>G | ||
| ENST00000644329.1:c.4622A>G | ENSP00000496611.1:p.Tyr1541Cys | |
| ENST00000644335.1:c.4619A>G | ENSP00000496317.1:p.Tyr1540Cys | |
| ENST00000644399.1:c.4744A>G | ||
| ENST00000645024.1:n.2907A>G | ||
| ENST00000646388.1:c.4817A>G | ENSP00000495921.1:p.Tyr1606Cys | |
| ENST00000646634.1:n.3638A>G | ||
| ENST00000646674.1:n.2075A>G | ||
| ENST00000647042.1:n.2046A>G | ||
| ENST00000647180.1:n.1936A>G | ||
| ENST00000219476.7:c.4823A>G | ENSP00000219476.3:p.Tyr1608Cys | |
| ENST00000350773.8:c.4754A>G | ENSP00000344383.4:p.Tyr1585Cys | |
| ENST00000382538.10:c.4478A>G | ENSP00000371978.6:p.Tyr1493Cys | |
| ENST00000401874.6:c.4622A>G | ENSP00000384468.2:p.Tyr1541Cys | |
| ENST00000439117.6:c.*3990A>G | ENSP00000406980.2:n.*3990A>G | |
| ENST00000439673.6:c.4514A>G | ENSP00000399232.2:p.Tyr1505Cys | |
| ENST00000497886.5:n.2581A>G | ||
| ENST00000568454.5:c.4655A>G | ENSP00000454487.1:p.Tyr1552Cys | |
| ENST00000569110.1:c.1005A>G | ||
| ENST00000569930.1:n.1938A>G | ||
| NM_000548.3:c.4823A>G , LRG_487t1:c.4823A>G | NP_000539.2:p.Tyr1608Cys | |
| NM_001077183.1:c.4622A>G | NP_001070651.1:p.Tyr1541Cys | |
| NM_001114382.1:c.4754A>G | NP_001107854.1:p.Tyr1585Cys | |
| XM_005255529.3:c.4694A>G | XP_005255586.2:p.Tyr1565Cys | |
| XM_005255531.3:c.4625A>G | XP_005255588.2:p.Tyr1542Cys | |
| XM_011522636.1:c.4877A>G | XP_011520938.1:p.Tyr1626Cys | |
| XM_011522637.1:c.4874A>G | XP_011520939.1:p.Tyr1625Cys | |
| XM_011522638.1:c.4766A>G | XP_011520940.1:p.Tyr1589Cys | |
| XM_011522639.1:c.4748A>G | XP_011520941.1:p.Tyr1583Cys | |
| XM_011522640.1:c.4745A>G | XP_011520942.1:p.Tyr1582Cys | |
| XM_011522641.1:c.4514A>G | XP_011520943.1:p.Tyr1505Cys | |
| NM_000548.4:c.4823A>G | NP_000539.2:p.Tyr1608Cys | |
| NM_001077183.2:c.4622A>G | NP_001070651.1:p.Tyr1541Cys | |
| NM_001114382.2:c.4754A>G | NP_001107854.1:p.Tyr1585Cys | |
| NM_001318827.1:c.4514A>G | NP_001305756.1:p.Tyr1505Cys | |
| NM_001318829.1:c.4478A>G | NP_001305758.1:p.Tyr1493Cys | |
| NM_001318831.1:c.4091A>G | NP_001305760.1:p.Tyr1364Cys | |
| NM_001318832.1:c.4655A>G | NP_001305761.1:p.Tyr1552Cys | |
| NM_001363528.1:c.4625A>G | NP_001350457.1:p.Tyr1542Cys | |
| NM_021055.2:c.4694A>G | NP_066399.2:p.Tyr1565Cys | |
| XM_005255531.4:c.4625A>G | XP_005255588.2:p.Tyr1542Cys | |
| XM_011522636.2:c.4877A>G | XP_011520938.1:p.Tyr1626Cys | |
| XM_011522637.2:c.4874A>G | XP_011520939.1:p.Tyr1625Cys | |
| XM_011522638.2:c.5039A>G | XP_011520940.2:p.Tyr1680Cys | |
| XM_011522639.2:c.4748A>G | XP_011520941.1:p.Tyr1583Cys | |
| XM_011522640.2:c.4745A>G | XP_011520942.1:p.Tyr1582Cys | |
| XM_017023615.1:c.4820A>G | XP_016879104.1:p.Tyr1607Cys | |
| XM_017023616.1:c.4691A>G | XP_016879105.1:p.Tyr1564Cys | |
| XM_017023617.1:c.4787A>G | XP_016879106.1:p.Tyr1596Cys | |
| XM_017023618.1:c.3533A>G | XP_016879107.1:p.Tyr1178Cys | |
| XM_024450413.1:c.4622A>G | XP_024306181.1:p.Tyr1541Cys | |
| NM_000548.5:c.4823A>G MANE Select | NP_000539.2:p.Tyr1608Cys | |
| NM_001370404.1:c.4691A>G | NP_001357333.1:p.Tyr1564Cys | |
| NM_001370405.1:c.4694A>G | NP_001357334.1:p.Tyr1565Cys | |
| NM_001077183.3:c.4622A>G | NP_001070651.1:p.Tyr1541Cys | |
| NM_001114382.3:c.4754A>G | NP_001107854.1:p.Tyr1585Cys | |
| NM_001318827.2:c.4514A>G | NP_001305756.1:p.Tyr1505Cys | |
| NM_001318829.2:c.4478A>G | NP_001305758.1:p.Tyr1493Cys | |
| NM_001318831.2:c.4091A>G | NP_001305760.1:p.Tyr1364Cys | |
| NM_001318832.2:c.4655A>G | NP_001305761.1:p.Tyr1552Cys | |
| NM_001363528.2:c.4625A>G | NP_001350457.1:p.Tyr1542Cys | |
| NM_021055.3:c.4694A>G | NP_066399.2:p.Tyr1565Cys |