Linked Data
ClinVar Variation Id:
12393
dbSNP Id:
rs45483392
COSMIC:
COSM1636649
PubMed:
PMID:9302281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2087897C>T , CM000678.2:g.2087897C>T | GRCh38 |
| NC_000016.9:g.2137898C>T , CM000678.1:g.2137898C>T | GRCh37 |
| NC_000016.8:g.2077899C>T | NCBI36 |
| NG_005895.1:g.43592C>T , LRG_487:g.43592C>T | |
| NG_008617.1:g.55324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3373C>T | ENSP00000455997.2:n.*3373C>T | |
| ENST00000642206.2:c.4871C>T | ENSP00000495146.2:p.Pro1624Leu | |
| ENST00000642365.2:c.5021C>T | ENSP00000495459.2:p.Pro1674Leu | |
| ENST00000644417.2:c.*5537C>T | ENSP00000493912.2:n.*5537C>T | |
| ENST00000646464.2:c.*7773C>T | ENSP00000496610.2:n.*7773C>T | |
| ENST00000219476.9:c.5024C>T MANE Select | ENSP00000219476.3:p.Pro1675Leu | |
| ENST00000350773.9:c.4955C>T | ENSP00000344383.4:p.Pro1652Leu | |
| ENST00000401874.7:c.4823C>T | ENSP00000384468.2:p.Pro1608Leu | |
| ENST00000568454.6:c.4856C>T | ENSP00000454487.1:p.Pro1619Leu | |
| ENST00000569110.2:c.1247C>T | ||
| ENST00000569930.2:n.2906C>T | ||
| ENST00000642365.1:c.3678C>T | ||
| ENST00000642561.1:c.4895C>T | ENSP00000495099.1:p.Pro1632Leu | |
| ENST00000642791.1:n.621C>T | ||
| ENST00000642797.1:c.4826C>T | ENSP00000493846.1:p.Pro1609Leu | |
| ENST00000642936.1:c.4892C>T | ENSP00000494514.1:p.Pro1631Leu | |
| ENST00000643088.1:c.4817C>T | ENSP00000494747.1:p.Pro1606Leu | |
| ENST00000643177.1:n.1038C>T | ||
| ENST00000643426.1:n.2672C>T | ||
| ENST00000643946.1:c.4949C>T | ENSP00000495927.1:p.Pro1650Leu | |
| ENST00000644043.1:c.4895C>T | ENSP00000496262.1:p.Pro1632Leu | |
| ENST00000644278.1:n.506C>T | ||
| ENST00000644329.1:c.4823C>T | ENSP00000496611.1:p.Pro1608Leu | |
| ENST00000644335.1:c.4820C>T | ENSP00000496317.1:p.Pro1607Leu | |
| ENST00000644399.1:c.4945C>T | ||
| ENST00000645024.1:n.3108C>T | ||
| ENST00000646388.1:c.5018C>T | ENSP00000495921.1:p.Pro1673Leu | |
| ENST00000646634.1:n.3839C>T | ||
| ENST00000646674.1:n.2276C>T | ||
| ENST00000647042.1:n.2247C>T | ||
| ENST00000647180.1:n.2137C>T | ||
| ENST00000219476.7:c.5024C>T | ENSP00000219476.3:p.Pro1675Leu | |
| ENST00000350773.8:c.4955C>T | ENSP00000344383.4:p.Pro1652Leu | |
| ENST00000382538.10:c.4679C>T | ENSP00000371978.6:p.Pro1560Leu | |
| ENST00000401874.6:c.4823C>T | ENSP00000384468.2:p.Pro1608Leu | |
| ENST00000439117.6:c.*4191C>T | ENSP00000406980.2:n.*4191C>T | |
| ENST00000439673.6:c.4715C>T | ENSP00000399232.2:p.Pro1572Leu | |
| ENST00000497886.5:n.2747C>T | ||
| ENST00000568454.5:c.4856C>T | ENSP00000454487.1:p.Pro1619Leu | |
| ENST00000569110.1:c.1206C>T | ||
| ENST00000569930.1:n.2139C>T | ||
| NM_000548.3:c.5024C>T , LRG_487t1:c.5024C>T | NP_000539.2:p.Pro1675Leu | |
| NM_001077183.1:c.4823C>T | NP_001070651.1:p.Pro1608Leu | |
| NM_001114382.1:c.4955C>T | NP_001107854.1:p.Pro1652Leu | |
| XM_005255529.3:c.4895C>T | XP_005255586.2:p.Pro1632Leu | |
| XM_005255531.3:c.4826C>T | XP_005255588.2:p.Pro1609Leu | |
| XM_011522636.1:c.5078C>T | XP_011520938.1:p.Pro1693Leu | |
| XM_011522637.1:c.5075C>T | XP_011520939.1:p.Pro1692Leu | |
| XM_011522638.1:c.4967C>T | XP_011520940.1:p.Pro1656Leu | |
| XM_011522639.1:c.4949C>T | XP_011520941.1:p.Pro1650Leu | |
| XM_011522640.1:c.4946C>T | XP_011520942.1:p.Pro1649Leu | |
| XM_011522641.1:c.4715C>T | XP_011520943.1:p.Pro1572Leu | |
| NM_000548.4:c.5024C>T | NP_000539.2:p.Pro1675Leu | |
| NM_001077183.2:c.4823C>T | NP_001070651.1:p.Pro1608Leu | |
| NM_001114382.2:c.4955C>T | NP_001107854.1:p.Pro1652Leu | |
| NM_001318827.1:c.4715C>T | NP_001305756.1:p.Pro1572Leu | |
| NM_001318829.1:c.4679C>T | NP_001305758.1:p.Pro1560Leu | |
| NM_001318831.1:c.4292C>T | NP_001305760.1:p.Pro1431Leu | |
| NM_001318832.1:c.4856C>T | NP_001305761.1:p.Pro1619Leu | |
| NM_001363528.1:c.4826C>T | NP_001350457.1:p.Pro1609Leu | |
| NM_021055.2:c.4895C>T | NP_066399.2:p.Pro1632Leu | |
| XM_005255531.4:c.4826C>T | XP_005255588.2:p.Pro1609Leu | |
| XM_011522636.2:c.5078C>T | XP_011520938.1:p.Pro1693Leu | |
| XM_011522637.2:c.5075C>T | XP_011520939.1:p.Pro1692Leu | |
| XM_011522638.2:c.5240C>T | XP_011520940.2:p.Pro1747Leu | |
| XM_011522639.2:c.4949C>T | XP_011520941.1:p.Pro1650Leu | |
| XM_011522640.2:c.4946C>T | XP_011520942.1:p.Pro1649Leu | |
| XM_017023615.1:c.5021C>T | XP_016879104.1:p.Pro1674Leu | |
| XM_017023616.1:c.4892C>T | XP_016879105.1:p.Pro1631Leu | |
| XM_017023617.1:c.4988C>T | XP_016879106.1:p.Pro1663Leu | |
| XM_017023618.1:c.3734C>T | XP_016879107.1:p.Pro1245Leu | |
| XM_024450413.1:c.4823C>T | XP_024306181.1:p.Pro1608Leu | |
| NM_000548.5:c.5024C>T MANE Select | NP_000539.2:p.Pro1675Leu | |
| NM_001370404.1:c.4892C>T | NP_001357333.1:p.Pro1631Leu | |
| NM_001370405.1:c.4895C>T | NP_001357334.1:p.Pro1632Leu | |
| NM_001077183.3:c.4823C>T | NP_001070651.1:p.Pro1608Leu | |
| NM_001114382.3:c.4955C>T | NP_001107854.1:p.Pro1652Leu | |
| NM_001318827.2:c.4715C>T | NP_001305756.1:p.Pro1572Leu | |
| NM_001318829.2:c.4679C>T | NP_001305758.1:p.Pro1560Leu | |
| NM_001318831.2:c.4292C>T | NP_001305760.1:p.Pro1431Leu | |
| NM_001318832.2:c.4856C>T | NP_001305761.1:p.Pro1619Leu | |
| NM_001363528.2:c.4826C>T | NP_001350457.1:p.Pro1609Leu | |
| NM_021055.3:c.4895C>T | NP_066399.2:p.Pro1632Leu |