Linked Data
ClinVar Variation Id:
2045146
dbSNP Id:
rs2151551059
gnomAD v4:
16-2085256-G-A
MyVariant Identifiers:
chr16:g.2135257G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085256G>A , CM000678.2:g.2085256G>A | GRCh38 |
| NC_000016.9:g.2135257G>A , CM000678.1:g.2135257G>A | GRCh37 |
| NC_000016.8:g.2075258G>A | NCBI36 |
| NG_005895.1:g.40951G>A , LRG_487:g.40951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2945G>A | ENSP00000455997.2:n.*2945G>A | |
| ENST00000642206.2:c.4443G>A | ENSP00000495146.2:p.Gln1481= | |
| ENST00000642365.2:c.4593G>A | ENSP00000495459.2:p.Gln1531= | |
| ENST00000644417.2:c.*4976G>A | ENSP00000493912.2:n.*4976G>A | |
| ENST00000646464.2:c.*7345G>A | ENSP00000496610.2:n.*7345G>A | |
| ENST00000219476.9:c.4596G>A MANE Select | ENSP00000219476.3:p.Gln1532= | |
| ENST00000350773.9:c.4527G>A | ENSP00000344383.4:p.Gln1509= | |
| ENST00000401874.7:c.4395G>A | ENSP00000384468.2:p.Gln1465= | |
| ENST00000568454.6:c.4428G>A | ENSP00000454487.1:p.Gln1476= | |
| ENST00000569110.2:c.819G>A | ||
| ENST00000569930.2:n.2478G>A | ||
| ENST00000642365.1:c.3250G>A | ||
| ENST00000642561.1:c.4467G>A | ENSP00000495099.1:p.Gln1489= | |
| ENST00000642728.1:n.778G>A | ||
| ENST00000642791.1:n.193G>A | ||
| ENST00000642797.1:c.4398G>A | ENSP00000493846.1:p.Gln1466= | |
| ENST00000642936.1:c.4464G>A | ENSP00000494514.1:p.Gln1488= | |
| ENST00000643088.1:c.4389G>A | ENSP00000494747.1:p.Gln1463= | |
| ENST00000643177.1:n.610G>A | ||
| ENST00000643426.1:n.2244G>A | ||
| ENST00000643946.1:c.4521G>A | ENSP00000495927.1:p.Gln1507= | |
| ENST00000644043.1:c.4467G>A | ENSP00000496262.1:p.Gln1489= | |
| ENST00000644278.1:n.78G>A | ||
| ENST00000644329.1:c.4395G>A | ENSP00000496611.1:p.Gln1465= | |
| ENST00000644335.1:c.4392G>A | ENSP00000496317.1:p.Gln1464= | |
| ENST00000644399.1:c.4517G>A | ||
| ENST00000645024.1:n.2680G>A | ||
| ENST00000646388.1:c.4590G>A | ENSP00000495921.1:p.Gln1530= | |
| ENST00000646634.1:n.3411G>A | ||
| ENST00000646674.1:n.1848G>A | ||
| ENST00000647042.1:n.1819G>A | ||
| ENST00000647180.1:n.1709G>A | ||
| ENST00000219476.7:c.4596G>A | ENSP00000219476.3:p.Gln1532= | |
| ENST00000350773.8:c.4527G>A | ENSP00000344383.4:p.Gln1509= | |
| ENST00000382538.10:c.4251G>A | ENSP00000371978.6:p.Gln1417= | |
| ENST00000401874.6:c.4395G>A | ENSP00000384468.2:p.Gln1465= | |
| ENST00000439117.6:c.*3763G>A | ENSP00000406980.2:n.*3763G>A | |
| ENST00000439673.6:c.4287G>A | ENSP00000399232.2:p.Gln1429= | |
| ENST00000497886.5:n.2354G>A | ||
| ENST00000568454.5:c.4428G>A | ENSP00000454487.1:p.Gln1476= | |
| ENST00000569110.1:c.778G>A | ||
| ENST00000569930.1:n.1711G>A | ||
| NM_000548.3:c.4596G>A , LRG_487t1:c.4596G>A | NP_000539.2:p.Gln1532= | |
| NM_001077183.1:c.4395G>A | NP_001070651.1:p.Gln1465= | |
| NM_001114382.1:c.4527G>A | NP_001107854.1:p.Gln1509= | |
| XM_005255529.3:c.4467G>A | XP_005255586.2:p.Gln1489= | |
| XM_005255531.3:c.4398G>A | XP_005255588.2:p.Gln1466= | |
| XM_011522636.1:c.4650G>A | XP_011520938.1:p.Gln1550= | |
| XM_011522637.1:c.4647G>A | XP_011520939.1:p.Gln1549= | |
| XM_011522638.1:c.4539G>A | XP_011520940.1:p.Gln1513= | |
| XM_011522639.1:c.4521G>A | XP_011520941.1:p.Gln1507= | |
| XM_011522640.1:c.4518G>A | XP_011520942.1:p.Gln1506= | |
| XM_011522641.1:c.4287G>A | XP_011520943.1:p.Gln1429= | |
| NM_000548.4:c.4596G>A | NP_000539.2:p.Gln1532= | |
| NM_001077183.2:c.4395G>A | NP_001070651.1:p.Gln1465= | |
| NM_001114382.2:c.4527G>A | NP_001107854.1:p.Gln1509= | |
| NM_001318827.1:c.4287G>A | NP_001305756.1:p.Gln1429= | |
| NM_001318829.1:c.4251G>A | NP_001305758.1:p.Gln1417= | |
| NM_001318831.1:c.3864G>A | NP_001305760.1:p.Gln1288= | |
| NM_001318832.1:c.4428G>A | NP_001305761.1:p.Gln1476= | |
| NM_001363528.1:c.4398G>A | NP_001350457.1:p.Gln1466= | |
| NM_021055.2:c.4467G>A | NP_066399.2:p.Gln1489= | |
| XM_005255531.4:c.4398G>A | XP_005255588.2:p.Gln1466= | |
| XM_011522636.2:c.4650G>A | XP_011520938.1:p.Gln1550= | |
| XM_011522637.2:c.4647G>A | XP_011520939.1:p.Gln1549= | |
| XM_011522638.2:c.4812G>A | XP_011520940.2:p.Gln1604= | |
| XM_011522639.2:c.4521G>A | XP_011520941.1:p.Gln1507= | |
| XM_011522640.2:c.4518G>A | XP_011520942.1:p.Gln1506= | |
| XM_017023615.1:c.4593G>A | XP_016879104.1:p.Gln1531= | |
| XM_017023616.1:c.4464G>A | XP_016879105.1:p.Gln1488= | |
| XM_017023617.1:c.4560G>A | XP_016879106.1:p.Gln1520= | |
| XM_017023618.1:c.3306G>A | XP_016879107.1:p.Gln1102= | |
| XM_024450413.1:c.4395G>A | XP_024306181.1:p.Gln1465= | |
| NM_000548.5:c.4596G>A MANE Select | NP_000539.2:p.Gln1532= | |
| NM_001370404.1:c.4464G>A | NP_001357333.1:p.Gln1488= | |
| NM_001370405.1:c.4467G>A | NP_001357334.1:p.Gln1489= | |
| NM_001077183.3:c.4395G>A | NP_001070651.1:p.Gln1465= | |
| NM_001114382.3:c.4527G>A | NP_001107854.1:p.Gln1509= | |
| NM_001318827.2:c.4287G>A | NP_001305756.1:p.Gln1429= | |
| NM_001318829.2:c.4251G>A | NP_001305758.1:p.Gln1417= | |
| NM_001318831.2:c.3864G>A | NP_001305760.1:p.Gln1288= | |
| NM_001318832.2:c.4428G>A | NP_001305761.1:p.Gln1476= | |
| NM_001363528.2:c.4398G>A | NP_001350457.1:p.Gln1466= | |
| NM_021055.3:c.4467G>A | NP_066399.2:p.Gln1489= |