Linked Data
ClinVar Variation Id:
3074298
ClinVar RCV Id:
RCV004012840
dbSNP Id:
rs1060504087
MyVariant Identifiers:
chr16:g.2135302C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085301C>G , CM000678.2:g.2085301C>G | GRCh38 |
| NC_000016.9:g.2135302C>G , CM000678.1:g.2135302C>G | GRCh37 |
| NC_000016.8:g.2075303C>G | NCBI36 |
| NG_005895.1:g.40996C>G , LRG_487:g.40996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2990C>G | ENSP00000455997.2:n.*2990C>G | |
| ENST00000642206.2:c.4488C>G | ENSP00000495146.2:p.Val1496= | |
| ENST00000642365.2:c.4638C>G | ENSP00000495459.2:p.Val1546= | |
| ENST00000644417.2:c.*5021C>G | ENSP00000493912.2:n.*5021C>G | |
| ENST00000646464.2:c.*7390C>G | ENSP00000496610.2:n.*7390C>G | |
| ENST00000219476.9:c.4641C>G MANE Select | ENSP00000219476.3:p.Val1547= | |
| ENST00000350773.9:c.4572C>G | ENSP00000344383.4:p.Val1524= | |
| ENST00000401874.7:c.4440C>G | ENSP00000384468.2:p.Val1480= | |
| ENST00000568454.6:c.4473C>G | ENSP00000454487.1:p.Val1491= | |
| ENST00000569110.2:c.864C>G | ||
| ENST00000569930.2:n.2523C>G | ||
| ENST00000642365.1:c.3295C>G | ||
| ENST00000642561.1:c.4512C>G | ENSP00000495099.1:p.Val1504= | |
| ENST00000642728.1:n.823C>G | ||
| ENST00000642791.1:n.238C>G | ||
| ENST00000642797.1:c.4443C>G | ENSP00000493846.1:p.Val1481= | |
| ENST00000642936.1:c.4509C>G | ENSP00000494514.1:p.Val1503= | |
| ENST00000643088.1:c.4434C>G | ENSP00000494747.1:p.Val1478= | |
| ENST00000643177.1:n.655C>G | ||
| ENST00000643426.1:n.2289C>G | ||
| ENST00000643946.1:c.4566C>G | ENSP00000495927.1:p.Val1522= | |
| ENST00000644043.1:c.4512C>G | ENSP00000496262.1:p.Val1504= | |
| ENST00000644278.1:n.123C>G | ||
| ENST00000644329.1:c.4440C>G | ENSP00000496611.1:p.Val1480= | |
| ENST00000644335.1:c.4437C>G | ENSP00000496317.1:p.Val1479= | |
| ENST00000644399.1:c.4562C>G | ||
| ENST00000645024.1:n.2725C>G | ||
| ENST00000646388.1:c.4635C>G | ENSP00000495921.1:p.Val1545= | |
| ENST00000646634.1:n.3456C>G | ||
| ENST00000646674.1:n.1893C>G | ||
| ENST00000647042.1:n.1864C>G | ||
| ENST00000647180.1:n.1754C>G | ||
| ENST00000219476.7:c.4641C>G | ENSP00000219476.3:p.Val1547= | |
| ENST00000350773.8:c.4572C>G | ENSP00000344383.4:p.Val1524= | |
| ENST00000382538.10:c.4296C>G | ENSP00000371978.6:p.Val1432= | |
| ENST00000401874.6:c.4440C>G | ENSP00000384468.2:p.Val1480= | |
| ENST00000439117.6:c.*3808C>G | ENSP00000406980.2:n.*3808C>G | |
| ENST00000439673.6:c.4332C>G | ENSP00000399232.2:p.Val1444= | |
| ENST00000497886.5:n.2399C>G | ||
| ENST00000568454.5:c.4473C>G | ENSP00000454487.1:p.Val1491= | |
| ENST00000569110.1:c.823C>G | ||
| ENST00000569930.1:n.1756C>G | ||
| NM_000548.3:c.4641C>G , LRG_487t1:c.4641C>G | NP_000539.2:p.Val1547= | |
| NM_001077183.1:c.4440C>G | NP_001070651.1:p.Val1480= | |
| NM_001114382.1:c.4572C>G | NP_001107854.1:p.Val1524= | |
| XM_005255529.3:c.4512C>G | XP_005255586.2:p.Val1504= | |
| XM_005255531.3:c.4443C>G | XP_005255588.2:p.Val1481= | |
| XM_011522636.1:c.4695C>G | XP_011520938.1:p.Val1565= | |
| XM_011522637.1:c.4692C>G | XP_011520939.1:p.Val1564= | |
| XM_011522638.1:c.4584C>G | XP_011520940.1:p.Val1528= | |
| XM_011522639.1:c.4566C>G | XP_011520941.1:p.Val1522= | |
| XM_011522640.1:c.4563C>G | XP_011520942.1:p.Val1521= | |
| XM_011522641.1:c.4332C>G | XP_011520943.1:p.Val1444= | |
| NM_000548.4:c.4641C>G | NP_000539.2:p.Val1547= | |
| NM_001077183.2:c.4440C>G | NP_001070651.1:p.Val1480= | |
| NM_001114382.2:c.4572C>G | NP_001107854.1:p.Val1524= | |
| NM_001318827.1:c.4332C>G | NP_001305756.1:p.Val1444= | |
| NM_001318829.1:c.4296C>G | NP_001305758.1:p.Val1432= | |
| NM_001318831.1:c.3909C>G | NP_001305760.1:p.Val1303= | |
| NM_001318832.1:c.4473C>G | NP_001305761.1:p.Val1491= | |
| NM_001363528.1:c.4443C>G | NP_001350457.1:p.Val1481= | |
| NM_021055.2:c.4512C>G | NP_066399.2:p.Val1504= | |
| XM_005255531.4:c.4443C>G | XP_005255588.2:p.Val1481= | |
| XM_011522636.2:c.4695C>G | XP_011520938.1:p.Val1565= | |
| XM_011522637.2:c.4692C>G | XP_011520939.1:p.Val1564= | |
| XM_011522638.2:c.4857C>G | XP_011520940.2:p.Val1619= | |
| XM_011522639.2:c.4566C>G | XP_011520941.1:p.Val1522= | |
| XM_011522640.2:c.4563C>G | XP_011520942.1:p.Val1521= | |
| XM_017023615.1:c.4638C>G | XP_016879104.1:p.Val1546= | |
| XM_017023616.1:c.4509C>G | XP_016879105.1:p.Val1503= | |
| XM_017023617.1:c.4605C>G | XP_016879106.1:p.Val1535= | |
| XM_017023618.1:c.3351C>G | XP_016879107.1:p.Val1117= | |
| XM_024450413.1:c.4440C>G | XP_024306181.1:p.Val1480= | |
| NM_000548.5:c.4641C>G MANE Select | NP_000539.2:p.Val1547= | |
| NM_001370404.1:c.4509C>G | NP_001357333.1:p.Val1503= | |
| NM_001370405.1:c.4512C>G | NP_001357334.1:p.Val1504= | |
| NM_001077183.3:c.4440C>G | NP_001070651.1:p.Val1480= | |
| NM_001114382.3:c.4572C>G | NP_001107854.1:p.Val1524= | |
| NM_001318827.2:c.4332C>G | NP_001305756.1:p.Val1444= | |
| NM_001318829.2:c.4296C>G | NP_001305758.1:p.Val1432= | |
| NM_001318831.2:c.3909C>G | NP_001305760.1:p.Val1303= | |
| NM_001318832.2:c.4473C>G | NP_001305761.1:p.Val1491= | |
| NM_001363528.2:c.4443C>G | NP_001350457.1:p.Val1481= | |
| NM_021055.3:c.4512C>G | NP_066399.2:p.Val1504= |