Linked Data
ClinVar Variation Id:
578447
dbSNP Id:
rs1373235682
gnomAD v2:
16-2138232-C-T
gnomAD v3:
16-2088231-C-T
gnomAD v4:
16-2088231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088231C>T , CM000678.2:g.2088231C>T | GRCh38 |
| NC_000016.9:g.2138232C>T , CM000678.1:g.2138232C>T | GRCh37 |
| NC_000016.8:g.2078233C>T | NCBI36 |
| NG_005895.1:g.43926C>T , LRG_487:g.43926C>T | |
| NG_008617.1:g.54990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3514C>T | ENSP00000455997.2:n.*3514C>T | |
| ENST00000642206.2:c.5012C>T | ENSP00000495146.2:p.Ala1671Val | |
| ENST00000642365.2:c.5162C>T | ENSP00000495459.2:p.Ala1721Val | |
| ENST00000644417.2:c.*5678C>T | ENSP00000493912.2:n.*5678C>T | |
| ENST00000646464.2:c.*7914C>T | ENSP00000496610.2:n.*7914C>T | |
| ENST00000219476.9:c.5165C>T MANE Select | ENSP00000219476.3:p.Ala1722Val | |
| ENST00000350773.9:c.5096C>T | ENSP00000344383.4:p.Ala1699Val | |
| ENST00000401874.7:c.4964C>T | ENSP00000384468.2:p.Ala1655Val | |
| ENST00000568454.6:c.4997C>T | ENSP00000454487.1:p.Ala1666Val | |
| ENST00000569110.2:c.1388C>T | ||
| ENST00000569930.2:n.3047C>T | ||
| ENST00000642365.1:c.3819C>T | ||
| ENST00000642561.1:c.5032-8C>T | ENSP00000495099.1:n.5032-8C>T | |
| ENST00000642791.1:n.762C>T | ||
| ENST00000642797.1:c.4967C>T | ENSP00000493846.1:p.Ala1656Val | |
| ENST00000642936.1:c.5033C>T | ENSP00000494514.1:p.Ala1678Val | |
| ENST00000643088.1:c.4958C>T | ENSP00000494747.1:p.Ala1653Val | |
| ENST00000643426.1:n.2813C>T | ||
| ENST00000643946.1:c.5090C>T | ENSP00000495927.1:p.Ala1697Val | |
| ENST00000644043.1:c.5036C>T | ENSP00000496262.1:p.Ala1679Val | |
| ENST00000644329.1:c.5051C>T | ENSP00000496611.1:p.Ala1684Val | |
| ENST00000644335.1:c.4961C>T | ENSP00000496317.1:p.Ala1654Val | |
| ENST00000644399.1:c.5086C>T | ||
| ENST00000645024.1:n.3249C>T | ||
| ENST00000646388.1:c.5159C>T | ENSP00000495921.1:p.Ala1720Val | |
| ENST00000646634.1:n.3980C>T | ||
| ENST00000646674.1:n.2417C>T | ||
| ENST00000647042.1:n.2388C>T | ||
| ENST00000647180.1:n.2278C>T | ||
| ENST00000219476.7:c.5165C>T | ENSP00000219476.3:p.Ala1722Val | |
| ENST00000350773.8:c.5096C>T | ENSP00000344383.4:p.Ala1699Val | |
| ENST00000382538.10:c.4820C>T | ENSP00000371978.6:p.Ala1607Val | |
| ENST00000401874.6:c.4964C>T | ENSP00000384468.2:p.Ala1655Val | |
| ENST00000439117.6:c.*4332C>T | ENSP00000406980.2:n.*4332C>T | |
| ENST00000439673.6:c.4856C>T | ENSP00000399232.2:p.Ala1619Val | |
| ENST00000497886.5:n.2888C>T | ||
| ENST00000568454.5:c.4997C>T | ENSP00000454487.1:p.Ala1666Val | |
| ENST00000569110.1:c.1347C>T | ||
| ENST00000569930.1:n.2280C>T | ||
| NM_000548.3:c.5165C>T , LRG_487t1:c.5165C>T | NP_000539.2:p.Ala1722Val | |
| NM_001077183.1:c.4964C>T | NP_001070651.1:p.Ala1655Val | |
| NM_001114382.1:c.5096C>T | NP_001107854.1:p.Ala1699Val | |
| XM_005255529.3:c.5036C>T | XP_005255586.2:p.Ala1679Val | |
| XM_005255531.3:c.4967C>T | XP_005255588.2:p.Ala1656Val | |
| XM_011522636.1:c.5219C>T | XP_011520938.1:p.Ala1740Val | |
| XM_011522637.1:c.5216C>T | XP_011520939.1:p.Ala1739Val | |
| XM_011522638.1:c.5108C>T | XP_011520940.1:p.Ala1703Val | |
| XM_011522639.1:c.5090C>T | XP_011520941.1:p.Ala1697Val | |
| XM_011522640.1:c.5087C>T | XP_011520942.1:p.Ala1696Val | |
| XM_011522641.1:c.4856C>T | XP_011520943.1:p.Ala1619Val | |
| NM_000548.4:c.5165C>T | NP_000539.2:p.Ala1722Val | |
| NM_001077183.2:c.4964C>T | NP_001070651.1:p.Ala1655Val | |
| NM_001114382.2:c.5096C>T | NP_001107854.1:p.Ala1699Val | |
| NM_001318827.1:c.4856C>T | NP_001305756.1:p.Ala1619Val | |
| NM_001318829.1:c.4820C>T | NP_001305758.1:p.Ala1607Val | |
| NM_001318831.1:c.4433C>T | NP_001305760.1:p.Ala1478Val | |
| NM_001318832.1:c.4997C>T | NP_001305761.1:p.Ala1666Val | |
| NM_001363528.1:c.4967C>T | NP_001350457.1:p.Ala1656Val | |
| NM_021055.2:c.5036C>T | NP_066399.2:p.Ala1679Val | |
| XM_005255531.4:c.4967C>T | XP_005255588.2:p.Ala1656Val | |
| XM_011522636.2:c.5219C>T | XP_011520938.1:p.Ala1740Val | |
| XM_011522637.2:c.5216C>T | XP_011520939.1:p.Ala1739Val | |
| XM_011522638.2:c.5381C>T | XP_011520940.2:p.Ala1794Val | |
| XM_011522639.2:c.5090C>T | XP_011520941.1:p.Ala1697Val | |
| XM_011522640.2:c.5087C>T | XP_011520942.1:p.Ala1696Val | |
| XM_017023615.1:c.5162C>T | XP_016879104.1:p.Ala1721Val | |
| XM_017023616.1:c.5033C>T | XP_016879105.1:p.Ala1678Val | |
| XM_017023617.1:c.5129C>T | XP_016879106.1:p.Ala1710Val | |
| XM_017023618.1:c.3875C>T | XP_016879107.1:p.Ala1292Val | |
| XM_024450413.1:c.5051C>T | XP_024306181.1:p.Ala1684Val | |
| NM_000548.5:c.5165C>T MANE Select | NP_000539.2:p.Ala1722Val | |
| NM_001370404.1:c.5033C>T | NP_001357333.1:p.Ala1678Val | |
| NM_001370405.1:c.5032-8C>T | NP_001357334.1:n.5032-8C>T | |
| NM_001077183.3:c.4964C>T | NP_001070651.1:p.Ala1655Val | |
| NM_001114382.3:c.5096C>T | NP_001107854.1:p.Ala1699Val | |
| NM_001318827.2:c.4856C>T | NP_001305756.1:p.Ala1619Val | |
| NM_001318829.2:c.4820C>T | NP_001305758.1:p.Ala1607Val | |
| NM_001318831.2:c.4433C>T | NP_001305760.1:p.Ala1478Val | |
| NM_001318832.2:c.4997C>T | NP_001305761.1:p.Ala1666Val | |
| NM_001363528.2:c.4967C>T | NP_001350457.1:p.Ala1656Val | |
| NM_021055.3:c.5036C>T | NP_066399.2:p.Ala1679Val |