Linked Data
ClinVar Variation Id:
468126
dbSNP Id:
rs776541842
gnomAD v2:
16-2136865-C-A
gnomAD v4:
16-2086864-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086864C>A , CM000678.2:g.2086864C>A | GRCh38 |
| NC_000016.9:g.2136865C>A , CM000678.1:g.2136865C>A | GRCh37 |
| NC_000016.8:g.2076866C>A | NCBI36 |
| NG_005895.1:g.42559C>A , LRG_487:g.42559C>A | |
| NG_008617.1:g.56357G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3331C>A | ENSP00000455997.2:n.*3331C>A | |
| ENST00000642206.2:c.4829C>A | ENSP00000495146.2:p.Thr1610Asn | |
| ENST00000642365.2:c.4979C>A | ENSP00000495459.2:p.Thr1660Asn | |
| ENST00000644417.2:c.*5495C>A | ENSP00000493912.2:n.*5495C>A | |
| ENST00000646464.2:c.*7731C>A | ENSP00000496610.2:n.*7731C>A | |
| ENST00000219476.9:c.4982C>A MANE Select | ENSP00000219476.3:p.Thr1661Asn | |
| ENST00000350773.9:c.4913C>A | ENSP00000344383.4:p.Thr1638Asn | |
| ENST00000401874.7:c.4781C>A | ENSP00000384468.2:p.Thr1594Asn | |
| ENST00000568454.6:c.4814C>A | ENSP00000454487.1:p.Thr1605Asn | |
| ENST00000569110.2:c.1205C>A | ||
| ENST00000569930.2:n.2864C>A | ||
| ENST00000642365.1:c.3636C>A | ||
| ENST00000642561.1:c.4853C>A | ENSP00000495099.1:p.Thr1618Asn | |
| ENST00000642728.1:n.1164C>A | ||
| ENST00000642791.1:n.579C>A | ||
| ENST00000642797.1:c.4784C>A | ENSP00000493846.1:p.Thr1595Asn | |
| ENST00000642936.1:c.4850C>A | ENSP00000494514.1:p.Thr1617Asn | |
| ENST00000643088.1:c.4775C>A | ENSP00000494747.1:p.Thr1592Asn | |
| ENST00000643177.1:n.996C>A | ||
| ENST00000643426.1:n.2630C>A | ||
| ENST00000643946.1:c.4907C>A | ENSP00000495927.1:p.Thr1636Asn | |
| ENST00000644043.1:c.4853C>A | ENSP00000496262.1:p.Thr1618Asn | |
| ENST00000644278.1:n.464C>A | ||
| ENST00000644329.1:c.4781C>A | ENSP00000496611.1:p.Thr1594Asn | |
| ENST00000644335.1:c.4778C>A | ENSP00000496317.1:p.Thr1593Asn | |
| ENST00000644399.1:c.4903C>A | ||
| ENST00000645024.1:n.3066C>A | ||
| ENST00000646388.1:c.4976C>A | ENSP00000495921.1:p.Thr1659Asn | |
| ENST00000646557.1:n.143C>A | ||
| ENST00000646634.1:n.3797C>A | ||
| ENST00000646674.1:n.2234C>A | ||
| ENST00000647042.1:n.2205C>A | ||
| ENST00000647180.1:n.2095C>A | ||
| ENST00000219476.7:c.4982C>A | ENSP00000219476.3:p.Thr1661Asn | |
| ENST00000350773.8:c.4913C>A | ENSP00000344383.4:p.Thr1638Asn | |
| ENST00000382538.10:c.4637C>A | ENSP00000371978.6:p.Thr1546Asn | |
| ENST00000401874.6:c.4781C>A | ENSP00000384468.2:p.Thr1594Asn | |
| ENST00000439117.6:c.*4149C>A | ENSP00000406980.2:n.*4149C>A | |
| ENST00000439673.6:c.4673C>A | ENSP00000399232.2:p.Thr1558Asn | |
| ENST00000497886.5:n.2705C>A | ||
| ENST00000568454.5:c.4814C>A | ENSP00000454487.1:p.Thr1605Asn | |
| ENST00000569110.1:c.1164C>A | ||
| ENST00000569930.1:n.2097C>A | ||
| NM_000548.3:c.4982C>A , LRG_487t1:c.4982C>A | NP_000539.2:p.Thr1661Asn | |
| NM_001077183.1:c.4781C>A | NP_001070651.1:p.Thr1594Asn | |
| NM_001114382.1:c.4913C>A | NP_001107854.1:p.Thr1638Asn | |
| XM_005255529.3:c.4853C>A | XP_005255586.2:p.Thr1618Asn | |
| XM_005255531.3:c.4784C>A | XP_005255588.2:p.Thr1595Asn | |
| XM_011522636.1:c.5036C>A | XP_011520938.1:p.Thr1679Asn | |
| XM_011522637.1:c.5033C>A | XP_011520939.1:p.Thr1678Asn | |
| XM_011522638.1:c.4925C>A | XP_011520940.1:p.Thr1642Asn | |
| XM_011522639.1:c.4907C>A | XP_011520941.1:p.Thr1636Asn | |
| XM_011522640.1:c.4904C>A | XP_011520942.1:p.Thr1635Asn | |
| XM_011522641.1:c.4673C>A | XP_011520943.1:p.Thr1558Asn | |
| NM_000548.4:c.4982C>A | NP_000539.2:p.Thr1661Asn | |
| NM_001077183.2:c.4781C>A | NP_001070651.1:p.Thr1594Asn | |
| NM_001114382.2:c.4913C>A | NP_001107854.1:p.Thr1638Asn | |
| NM_001318827.1:c.4673C>A | NP_001305756.1:p.Thr1558Asn | |
| NM_001318829.1:c.4637C>A | NP_001305758.1:p.Thr1546Asn | |
| NM_001318831.1:c.4250C>A | NP_001305760.1:p.Thr1417Asn | |
| NM_001318832.1:c.4814C>A | NP_001305761.1:p.Thr1605Asn | |
| NM_001363528.1:c.4784C>A | NP_001350457.1:p.Thr1595Asn | |
| NM_021055.2:c.4853C>A | NP_066399.2:p.Thr1618Asn | |
| XM_005255531.4:c.4784C>A | XP_005255588.2:p.Thr1595Asn | |
| XM_011522636.2:c.5036C>A | XP_011520938.1:p.Thr1679Asn | |
| XM_011522637.2:c.5033C>A | XP_011520939.1:p.Thr1678Asn | |
| XM_011522638.2:c.5198C>A | XP_011520940.2:p.Thr1733Asn | |
| XM_011522639.2:c.4907C>A | XP_011520941.1:p.Thr1636Asn | |
| XM_011522640.2:c.4904C>A | XP_011520942.1:p.Thr1635Asn | |
| XM_017023615.1:c.4979C>A | XP_016879104.1:p.Thr1660Asn | |
| XM_017023616.1:c.4850C>A | XP_016879105.1:p.Thr1617Asn | |
| XM_017023617.1:c.4946C>A | XP_016879106.1:p.Thr1649Asn | |
| XM_017023618.1:c.3692C>A | XP_016879107.1:p.Thr1231Asn | |
| XM_024450413.1:c.4781C>A | XP_024306181.1:p.Thr1594Asn | |
| NM_000548.5:c.4982C>A MANE Select | NP_000539.2:p.Thr1661Asn | |
| NM_001370404.1:c.4850C>A | NP_001357333.1:p.Thr1617Asn | |
| NM_001370405.1:c.4853C>A | NP_001357334.1:p.Thr1618Asn | |
| NM_001077183.3:c.4781C>A | NP_001070651.1:p.Thr1594Asn | |
| NM_001114382.3:c.4913C>A | NP_001107854.1:p.Thr1638Asn | |
| NM_001318827.2:c.4673C>A | NP_001305756.1:p.Thr1558Asn | |
| NM_001318829.2:c.4637C>A | NP_001305758.1:p.Thr1546Asn | |
| NM_001318831.2:c.4250C>A | NP_001305760.1:p.Thr1417Asn | |
| NM_001318832.2:c.4814C>A | NP_001305761.1:p.Thr1605Asn | |
| NM_001363528.2:c.4784C>A | NP_001350457.1:p.Thr1595Asn | |
| NM_021055.3:c.4853C>A | NP_066399.2:p.Thr1618Asn |