Linked Data
ClinVar Variation Id:
1147395
ClinVar RCV Id:
RCV001486896
dbSNP Id:
rs2151638252
gnomAD v4:
16-2088463-C-T
MyVariant Identifiers:
chr16:g.2138464C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088463C>T , CM000678.2:g.2088463C>T | GRCh38 |
| NC_000016.9:g.2138464C>T , CM000678.1:g.2138464C>T | GRCh37 |
| NC_000016.8:g.2078465C>T | NCBI36 |
| NG_005895.1:g.44158C>T , LRG_487:g.44158C>T | |
| NG_008617.1:g.54758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3626C>T | ENSP00000455997.2:n.*3626C>T | |
| ENST00000642206.2:c.5124C>T | ENSP00000495146.2:p.Ala1708= | |
| ENST00000642365.2:c.5274C>T | ENSP00000495459.2:p.Ala1758= | |
| ENST00000644417.2:c.*5790C>T | ENSP00000493912.2:n.*5790C>T | |
| ENST00000646464.2:c.*8026C>T | ENSP00000496610.2:n.*8026C>T | |
| ENST00000219476.9:c.5277C>T MANE Select | ENSP00000219476.3:p.Ala1759= | |
| ENST00000350773.9:c.5208C>T | ENSP00000344383.4:p.Ala1736= | |
| ENST00000401874.7:c.5076C>T | ENSP00000384468.2:p.Ala1692= | |
| ENST00000568454.6:c.5109C>T | ENSP00000454487.1:p.Ala1703= | |
| ENST00000569110.2:c.1500C>T | ||
| ENST00000569930.2:n.3159C>T | ||
| ENST00000642365.1:c.3931C>T | ||
| ENST00000642561.1:c.5136C>T | ENSP00000495099.1:p.Ala1712= | |
| ENST00000642791.1:n.874C>T | ||
| ENST00000642797.1:c.5079C>T | ENSP00000493846.1:p.Ala1693= | |
| ENST00000642936.1:c.5145C>T | ENSP00000494514.1:p.Ala1715= | |
| ENST00000643088.1:c.5070C>T | ENSP00000494747.1:p.Ala1690= | |
| ENST00000643426.1:n.2925C>T | ||
| ENST00000643946.1:c.5202C>T | ENSP00000495927.1:p.Ala1734= | |
| ENST00000644043.1:c.5148C>T | ENSP00000496262.1:p.Ala1716= | |
| ENST00000644329.1:c.5163C>T | ENSP00000496611.1:p.Ala1721= | |
| ENST00000644335.1:c.5073C>T | ENSP00000496317.1:p.Ala1691= | |
| ENST00000644399.1:c.5198C>T | ||
| ENST00000645024.1:n.3361C>T | ||
| ENST00000646388.1:c.5271C>T | ENSP00000495921.1:p.Ala1757= | |
| ENST00000646634.1:n.4092C>T | ||
| ENST00000646674.1:n.2529C>T | ||
| ENST00000647042.1:n.2500C>T | ||
| ENST00000647180.1:n.2390C>T | ||
| ENST00000219476.7:c.5277C>T | ENSP00000219476.3:p.Ala1759= | |
| ENST00000350773.8:c.5208C>T | ENSP00000344383.4:p.Ala1736= | |
| ENST00000382538.10:c.4932C>T | ENSP00000371978.6:p.Ala1644= | |
| ENST00000401874.6:c.5076C>T | ENSP00000384468.2:p.Ala1692= | |
| ENST00000439117.6:c.*4444C>T | ENSP00000406980.2:n.*4444C>T | |
| ENST00000439673.6:c.4968C>T | ENSP00000399232.2:p.Ala1656= | |
| ENST00000497886.5:n.3000C>T | ||
| ENST00000568454.5:c.5109C>T | ENSP00000454487.1:p.Ala1703= | |
| ENST00000569110.1:c.1459C>T | ||
| ENST00000569930.1:n.2392C>T | ||
| NM_000548.3:c.5277C>T , LRG_487t1:c.5277C>T | NP_000539.2:p.Ala1759= | |
| NM_001077183.1:c.5076C>T | NP_001070651.1:p.Ala1692= | |
| NM_001114382.1:c.5208C>T | NP_001107854.1:p.Ala1736= | |
| XM_005255529.3:c.5148C>T | XP_005255586.2:p.Ala1716= | |
| XM_005255531.3:c.5079C>T | XP_005255588.2:p.Ala1693= | |
| XM_011522636.1:c.5331C>T | XP_011520938.1:p.Ala1777= | |
| XM_011522637.1:c.5328C>T | XP_011520939.1:p.Ala1776= | |
| XM_011522638.1:c.5220C>T | XP_011520940.1:p.Ala1740= | |
| XM_011522639.1:c.5202C>T | XP_011520941.1:p.Ala1734= | |
| XM_011522640.1:c.5199C>T | XP_011520942.1:p.Ala1733= | |
| XM_011522641.1:c.4968C>T | XP_011520943.1:p.Ala1656= | |
| NM_000548.4:c.5277C>T | NP_000539.2:p.Ala1759= | |
| NM_001077183.2:c.5076C>T | NP_001070651.1:p.Ala1692= | |
| NM_001114382.2:c.5208C>T | NP_001107854.1:p.Ala1736= | |
| NM_001318827.1:c.4968C>T | NP_001305756.1:p.Ala1656= | |
| NM_001318829.1:c.4932C>T | NP_001305758.1:p.Ala1644= | |
| NM_001318831.1:c.4545C>T | NP_001305760.1:p.Ala1515= | |
| NM_001318832.1:c.5109C>T | NP_001305761.1:p.Ala1703= | |
| NM_001363528.1:c.5079C>T | NP_001350457.1:p.Ala1693= | |
| NM_021055.2:c.5148C>T | NP_066399.2:p.Ala1716= | |
| XM_005255531.4:c.5079C>T | XP_005255588.2:p.Ala1693= | |
| XM_011522636.2:c.5331C>T | XP_011520938.1:p.Ala1777= | |
| XM_011522637.2:c.5328C>T | XP_011520939.1:p.Ala1776= | |
| XM_011522638.2:c.5493C>T | XP_011520940.2:p.Ala1831= | |
| XM_011522639.2:c.5202C>T | XP_011520941.1:p.Ala1734= | |
| XM_011522640.2:c.5199C>T | XP_011520942.1:p.Ala1733= | |
| XM_017023615.1:c.5274C>T | XP_016879104.1:p.Ala1758= | |
| XM_017023616.1:c.5145C>T | XP_016879105.1:p.Ala1715= | |
| XM_017023617.1:c.5241C>T | XP_016879106.1:p.Ala1747= | |
| XM_017023618.1:c.3987C>T | XP_016879107.1:p.Ala1329= | |
| XM_024450413.1:c.5163C>T | XP_024306181.1:p.Ala1721= | |
| NM_000548.5:c.5277C>T MANE Select | NP_000539.2:p.Ala1759= | |
| NM_001370404.1:c.5145C>T | NP_001357333.1:p.Ala1715= | |
| NM_001370405.1:c.5136C>T | NP_001357334.1:p.Ala1712= | |
| NM_001077183.3:c.5076C>T | NP_001070651.1:p.Ala1692= | |
| NM_001114382.3:c.5208C>T | NP_001107854.1:p.Ala1736= | |
| NM_001318827.2:c.4968C>T | NP_001305756.1:p.Ala1656= | |
| NM_001318829.2:c.4932C>T | NP_001305758.1:p.Ala1644= | |
| NM_001318831.2:c.4545C>T | NP_001305760.1:p.Ala1515= | |
| NM_001318832.2:c.5109C>T | NP_001305761.1:p.Ala1703= | |
| NM_001363528.2:c.5079C>T | NP_001350457.1:p.Ala1693= | |
| NM_021055.3:c.5148C>T | NP_066399.2:p.Ala1716= |