Linked Data
ClinVar Variation Id:
763866
dbSNP Id:
rs762032752
gnomAD v4:
16-2088556-G-A
MyVariant Identifiers:
chr16:g.2138557G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088556G>A , CM000678.2:g.2088556G>A | GRCh38 |
| NC_000016.9:g.2138557G>A , CM000678.1:g.2138557G>A | GRCh37 |
| NC_000016.8:g.2078558G>A | NCBI36 |
| NG_005895.1:g.44251G>A , LRG_487:g.44251G>A | |
| NG_008617.1:g.54665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3719G>A | ENSP00000455997.2:n.*3719G>A | |
| ENST00000642206.2:c.5217G>A | ENSP00000495146.2:p.Val1739= | |
| ENST00000642365.2:c.5367G>A | ENSP00000495459.2:p.Val1789= | |
| ENST00000644417.2:c.*5883G>A | ENSP00000493912.2:n.*5883G>A | |
| ENST00000646464.2:c.*8119G>A | ENSP00000496610.2:n.*8119G>A | |
| ENST00000219476.9:c.5370G>A MANE Select | ENSP00000219476.3:p.Val1790= | |
| ENST00000350773.9:c.5301G>A | ENSP00000344383.4:p.Val1767= | |
| ENST00000401874.7:c.5169G>A | ENSP00000384468.2:p.Val1723= | |
| ENST00000568454.6:c.5202G>A | ENSP00000454487.1:p.Val1734= | |
| ENST00000569110.2:c.1593G>A | ||
| ENST00000569930.2:n.3252G>A | ||
| ENST00000642365.1:c.4024G>A | ||
| ENST00000642561.1:c.5229G>A | ENSP00000495099.1:p.Val1743= | |
| ENST00000642791.1:n.967G>A | ||
| ENST00000642797.1:c.5172G>A | ENSP00000493846.1:p.Val1724= | |
| ENST00000642936.1:c.5238G>A | ENSP00000494514.1:p.Val1746= | |
| ENST00000643088.1:c.5163G>A | ENSP00000494747.1:p.Val1721= | |
| ENST00000643426.1:n.3018G>A | ||
| ENST00000643946.1:c.5295G>A | ENSP00000495927.1:p.Val1765= | |
| ENST00000644043.1:c.5241G>A | ENSP00000496262.1:p.Val1747= | |
| ENST00000644329.1:c.5256G>A | ENSP00000496611.1:p.Val1752= | |
| ENST00000644335.1:c.5166G>A | ENSP00000496317.1:p.Val1722= | |
| ENST00000644399.1:c.5291G>A | ||
| ENST00000645024.1:n.3454G>A | ||
| ENST00000646388.1:c.5364G>A | ENSP00000495921.1:p.Val1788= | |
| ENST00000646634.1:n.4185G>A | ||
| ENST00000646674.1:n.2622G>A | ||
| ENST00000647042.1:n.2593G>A | ||
| ENST00000647180.1:n.2483G>A | ||
| ENST00000219476.7:c.5370G>A | ENSP00000219476.3:p.Val1790= | |
| ENST00000350773.8:c.5301G>A | ENSP00000344383.4:p.Val1767= | |
| ENST00000382538.10:c.5025G>A | ENSP00000371978.6:p.Val1675= | |
| ENST00000401874.6:c.5169G>A | ENSP00000384468.2:p.Val1723= | |
| ENST00000439117.6:c.*4537G>A | ENSP00000406980.2:n.*4537G>A | |
| ENST00000439673.6:c.5061G>A | ENSP00000399232.2:p.Val1687= | |
| ENST00000497886.5:n.3093G>A | ||
| ENST00000568454.5:c.5202G>A | ENSP00000454487.1:p.Val1734= | |
| ENST00000569110.1:c.1552G>A | ||
| ENST00000569930.1:n.2485G>A | ||
| NM_000548.3:c.5370G>A , LRG_487t1:c.5370G>A | NP_000539.2:p.Val1790= | |
| NM_001077183.1:c.5169G>A | NP_001070651.1:p.Val1723= | |
| NM_001114382.1:c.5301G>A | NP_001107854.1:p.Val1767= | |
| XM_005255529.3:c.5241G>A | XP_005255586.2:p.Val1747= | |
| XM_005255531.3:c.5172G>A | XP_005255588.2:p.Val1724= | |
| XM_011522636.1:c.5424G>A | XP_011520938.1:p.Val1808= | |
| XM_011522637.1:c.5421G>A | XP_011520939.1:p.Val1807= | |
| XM_011522638.1:c.5313G>A | XP_011520940.1:p.Val1771= | |
| XM_011522639.1:c.5295G>A | XP_011520941.1:p.Val1765= | |
| XM_011522640.1:c.5292G>A | XP_011520942.1:p.Val1764= | |
| XM_011522641.1:c.5061G>A | XP_011520943.1:p.Val1687= | |
| NM_000548.4:c.5370G>A | NP_000539.2:p.Val1790= | |
| NM_001077183.2:c.5169G>A | NP_001070651.1:p.Val1723= | |
| NM_001114382.2:c.5301G>A | NP_001107854.1:p.Val1767= | |
| NM_001318827.1:c.5061G>A | NP_001305756.1:p.Val1687= | |
| NM_001318829.1:c.5025G>A | NP_001305758.1:p.Val1675= | |
| NM_001318831.1:c.4638G>A | NP_001305760.1:p.Val1546= | |
| NM_001318832.1:c.5202G>A | NP_001305761.1:p.Val1734= | |
| NM_001363528.1:c.5172G>A | NP_001350457.1:p.Val1724= | |
| NM_021055.2:c.5241G>A | NP_066399.2:p.Val1747= | |
| XM_005255531.4:c.5172G>A | XP_005255588.2:p.Val1724= | |
| XM_011522636.2:c.5424G>A | XP_011520938.1:p.Val1808= | |
| XM_011522637.2:c.5421G>A | XP_011520939.1:p.Val1807= | |
| XM_011522638.2:c.5586G>A | XP_011520940.2:p.Val1862= | |
| XM_011522639.2:c.5295G>A | XP_011520941.1:p.Val1765= | |
| XM_011522640.2:c.5292G>A | XP_011520942.1:p.Val1764= | |
| XM_017023615.1:c.5367G>A | XP_016879104.1:p.Val1789= | |
| XM_017023616.1:c.5238G>A | XP_016879105.1:p.Val1746= | |
| XM_017023617.1:c.5334G>A | XP_016879106.1:p.Val1778= | |
| XM_017023618.1:c.4080G>A | XP_016879107.1:p.Val1360= | |
| XM_024450413.1:c.5256G>A | XP_024306181.1:p.Val1752= | |
| NM_000548.5:c.5370G>A MANE Select | NP_000539.2:p.Val1790= | |
| NM_001370404.1:c.5238G>A | NP_001357333.1:p.Val1746= | |
| NM_001370405.1:c.5229G>A | NP_001357334.1:p.Val1743= | |
| NM_001077183.3:c.5169G>A | NP_001070651.1:p.Val1723= | |
| NM_001114382.3:c.5301G>A | NP_001107854.1:p.Val1767= | |
| NM_001318827.2:c.5061G>A | NP_001305756.1:p.Val1687= | |
| NM_001318829.2:c.5025G>A | NP_001305758.1:p.Val1675= | |
| NM_001318831.2:c.4638G>A | NP_001305760.1:p.Val1546= | |
| NM_001318832.2:c.5202G>A | NP_001305761.1:p.Val1734= | |
| NM_001363528.2:c.5172G>A | NP_001350457.1:p.Val1724= | |
| NM_021055.3:c.5241G>A | NP_066399.2:p.Val1747= |