Linked Data
ClinVar Variation Id:
413632
ClinVar RCV Id:
RCV000463118
dbSNP Id:
rs756358402
ExAC:
16:2138324 C / A
gnomAD v2:
16-2138324-C-A
gnomAD v4:
16-2088323-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088323C>A , CM000678.2:g.2088323C>A | GRCh38 |
| NC_000016.9:g.2138324C>A , CM000678.1:g.2138324C>A | GRCh37 |
| NC_000016.8:g.2078325C>A | NCBI36 |
| NG_005895.1:g.44018C>A , LRG_487:g.44018C>A | |
| NG_008617.1:g.54898G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3606C>A | ENSP00000455997.2:n.*3606C>A | |
| ENST00000642206.2:c.5104C>A | ENSP00000495146.2:p.Arg1702= | |
| ENST00000642365.2:c.5254C>A | ENSP00000495459.2:p.Arg1752= | |
| ENST00000644417.2:c.*5770C>A | ENSP00000493912.2:n.*5770C>A | |
| ENST00000646464.2:c.*8006C>A | ENSP00000496610.2:n.*8006C>A | |
| ENST00000219476.9:c.5257C>A MANE Select | ENSP00000219476.3:p.Arg1753= | |
| ENST00000350773.9:c.5188C>A | ENSP00000344383.4:p.Arg1730= | |
| ENST00000401874.7:c.5056C>A | ENSP00000384468.2:p.Arg1686= | |
| ENST00000568454.6:c.5089C>A | ENSP00000454487.1:p.Arg1697= | |
| ENST00000569110.2:c.1480C>A | ||
| ENST00000569930.2:n.3139C>A | ||
| ENST00000642365.1:c.3911C>A | ||
| ENST00000642561.1:c.5116C>A | ENSP00000495099.1:p.Arg1706= | |
| ENST00000642791.1:n.854C>A | ||
| ENST00000642797.1:c.5059C>A | ENSP00000493846.1:p.Arg1687= | |
| ENST00000642936.1:c.5125C>A | ENSP00000494514.1:p.Arg1709= | |
| ENST00000643088.1:c.5050C>A | ENSP00000494747.1:p.Arg1684= | |
| ENST00000643426.1:n.2905C>A | ||
| ENST00000643946.1:c.5182C>A | ENSP00000495927.1:p.Arg1728= | |
| ENST00000644043.1:c.5128C>A | ENSP00000496262.1:p.Arg1710= | |
| ENST00000644329.1:c.5143C>A | ENSP00000496611.1:p.Arg1715= | |
| ENST00000644335.1:c.5053C>A | ENSP00000496317.1:p.Arg1685= | |
| ENST00000644399.1:c.5178C>A | ||
| ENST00000645024.1:n.3341C>A | ||
| ENST00000646388.1:c.5251C>A | ENSP00000495921.1:p.Arg1751= | |
| ENST00000646634.1:n.4072C>A | ||
| ENST00000646674.1:n.2509C>A | ||
| ENST00000647042.1:n.2480C>A | ||
| ENST00000647180.1:n.2370C>A | ||
| ENST00000219476.7:c.5257C>A | ENSP00000219476.3:p.Arg1753= | |
| ENST00000350773.8:c.5188C>A | ENSP00000344383.4:p.Arg1730= | |
| ENST00000382538.10:c.4912C>A | ENSP00000371978.6:p.Arg1638= | |
| ENST00000401874.6:c.5056C>A | ENSP00000384468.2:p.Arg1686= | |
| ENST00000439117.6:c.*4424C>A | ENSP00000406980.2:n.*4424C>A | |
| ENST00000439673.6:c.4948C>A | ENSP00000399232.2:p.Arg1650= | |
| ENST00000497886.5:n.2980C>A | ||
| ENST00000568454.5:c.5089C>A | ENSP00000454487.1:p.Arg1697= | |
| ENST00000569110.1:c.1439C>A | ||
| ENST00000569930.1:n.2372C>A | ||
| NM_000548.3:c.5257C>A , LRG_487t1:c.5257C>A | NP_000539.2:p.Arg1753= | |
| NM_001077183.1:c.5056C>A | NP_001070651.1:p.Arg1686= | |
| NM_001114382.1:c.5188C>A | NP_001107854.1:p.Arg1730= | |
| XM_005255529.3:c.5128C>A | XP_005255586.2:p.Arg1710= | |
| XM_005255531.3:c.5059C>A | XP_005255588.2:p.Arg1687= | |
| XM_011522636.1:c.5311C>A | XP_011520938.1:p.Arg1771= | |
| XM_011522637.1:c.5308C>A | XP_011520939.1:p.Arg1770= | |
| XM_011522638.1:c.5200C>A | XP_011520940.1:p.Arg1734= | |
| XM_011522639.1:c.5182C>A | XP_011520941.1:p.Arg1728= | |
| XM_011522640.1:c.5179C>A | XP_011520942.1:p.Arg1727= | |
| XM_011522641.1:c.4948C>A | XP_011520943.1:p.Arg1650= | |
| NM_000548.4:c.5257C>A | NP_000539.2:p.Arg1753= | |
| NM_001077183.2:c.5056C>A | NP_001070651.1:p.Arg1686= | |
| NM_001114382.2:c.5188C>A | NP_001107854.1:p.Arg1730= | |
| NM_001318827.1:c.4948C>A | NP_001305756.1:p.Arg1650= | |
| NM_001318829.1:c.4912C>A | NP_001305758.1:p.Arg1638= | |
| NM_001318831.1:c.4525C>A | NP_001305760.1:p.Arg1509= | |
| NM_001318832.1:c.5089C>A | NP_001305761.1:p.Arg1697= | |
| NM_001363528.1:c.5059C>A | NP_001350457.1:p.Arg1687= | |
| NM_021055.2:c.5128C>A | NP_066399.2:p.Arg1710= | |
| XM_005255531.4:c.5059C>A | XP_005255588.2:p.Arg1687= | |
| XM_011522636.2:c.5311C>A | XP_011520938.1:p.Arg1771= | |
| XM_011522637.2:c.5308C>A | XP_011520939.1:p.Arg1770= | |
| XM_011522638.2:c.5473C>A | XP_011520940.2:p.Arg1825= | |
| XM_011522639.2:c.5182C>A | XP_011520941.1:p.Arg1728= | |
| XM_011522640.2:c.5179C>A | XP_011520942.1:p.Arg1727= | |
| XM_017023615.1:c.5254C>A | XP_016879104.1:p.Arg1752= | |
| XM_017023616.1:c.5125C>A | XP_016879105.1:p.Arg1709= | |
| XM_017023617.1:c.5221C>A | XP_016879106.1:p.Arg1741= | |
| XM_017023618.1:c.3967C>A | XP_016879107.1:p.Arg1323= | |
| XM_024450413.1:c.5143C>A | XP_024306181.1:p.Arg1715= | |
| NM_000548.5:c.5257C>A MANE Select | NP_000539.2:p.Arg1753= | |
| NM_001370404.1:c.5125C>A | NP_001357333.1:p.Arg1709= | |
| NM_001370405.1:c.5116C>A | NP_001357334.1:p.Arg1706= | |
| NM_001077183.3:c.5056C>A | NP_001070651.1:p.Arg1686= | |
| NM_001114382.3:c.5188C>A | NP_001107854.1:p.Arg1730= | |
| NM_001318827.2:c.4948C>A | NP_001305756.1:p.Arg1650= | |
| NM_001318829.2:c.4912C>A | NP_001305758.1:p.Arg1638= | |
| NM_001318831.2:c.4525C>A | NP_001305760.1:p.Arg1509= | |
| NM_001318832.2:c.5089C>A | NP_001305761.1:p.Arg1697= | |
| NM_001363528.2:c.5059C>A | NP_001350457.1:p.Arg1687= | |
| NM_021055.3:c.5128C>A | NP_066399.2:p.Arg1710= |