Linked Data
ClinVar Variation Id:
49950
dbSNP Id:
rs45472701
gnomAD v4:
16-2088236-C-T
PubMed:
PMID:9829910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088236C>T , CM000678.2:g.2088236C>T | GRCh38 |
| NC_000016.9:g.2138237C>T , CM000678.1:g.2138237C>T | GRCh37 |
| NC_000016.8:g.2078238C>T | NCBI36 |
| NG_005895.1:g.43931C>T , LRG_487:g.43931C>T | |
| NG_008617.1:g.54985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3519C>T | ENSP00000455997.2:n.*3519C>T | |
| ENST00000642206.2:c.5017C>T | ENSP00000495146.2:p.Gln1673Ter | |
| ENST00000642365.2:c.5167C>T | ENSP00000495459.2:p.Gln1723Ter | |
| ENST00000644417.2:c.*5683C>T | ENSP00000493912.2:n.*5683C>T | |
| ENST00000646464.2:c.*7919C>T | ENSP00000496610.2:n.*7919C>T | |
| ENST00000219476.9:c.5170C>T MANE Select | ENSP00000219476.3:p.Gln1724Ter | |
| ENST00000350773.9:c.5101C>T | ENSP00000344383.4:p.Gln1701Ter | |
| ENST00000401874.7:c.4969C>T | ENSP00000384468.2:p.Gln1657Ter | |
| ENST00000568454.6:c.5002C>T | ENSP00000454487.1:p.Gln1668Ter | |
| ENST00000569110.2:c.1393C>T | ||
| ENST00000569930.2:n.3052C>T | ||
| ENST00000642365.1:c.3824C>T | ||
| ENST00000642561.1:c.5032-3C>T | ENSP00000495099.1:n.5032-3C>T | |
| ENST00000642791.1:n.767C>T | ||
| ENST00000642797.1:c.4972C>T | ENSP00000493846.1:p.Gln1658Ter | |
| ENST00000642936.1:c.5038C>T | ENSP00000494514.1:p.Gln1680Ter | |
| ENST00000643088.1:c.4963C>T | ENSP00000494747.1:p.Gln1655Ter | |
| ENST00000643426.1:n.2818C>T | ||
| ENST00000643946.1:c.5095C>T | ENSP00000495927.1:p.Gln1699Ter | |
| ENST00000644043.1:c.5041C>T | ENSP00000496262.1:p.Gln1681Ter | |
| ENST00000644329.1:c.5056C>T | ENSP00000496611.1:p.Gln1686Ter | |
| ENST00000644335.1:c.4966C>T | ENSP00000496317.1:p.Gln1656Ter | |
| ENST00000644399.1:c.5091C>T | ||
| ENST00000645024.1:n.3254C>T | ||
| ENST00000646388.1:c.5164C>T | ENSP00000495921.1:p.Gln1722Ter | |
| ENST00000646634.1:n.3985C>T | ||
| ENST00000646674.1:n.2422C>T | ||
| ENST00000647042.1:n.2393C>T | ||
| ENST00000647180.1:n.2283C>T | ||
| ENST00000219476.7:c.5170C>T | ENSP00000219476.3:p.Gln1724Ter | |
| ENST00000350773.8:c.5101C>T | ENSP00000344383.4:p.Gln1701Ter | |
| ENST00000382538.10:c.4825C>T | ENSP00000371978.6:p.Gln1609Ter | |
| ENST00000401874.6:c.4969C>T | ENSP00000384468.2:p.Gln1657Ter | |
| ENST00000439117.6:c.*4337C>T | ENSP00000406980.2:n.*4337C>T | |
| ENST00000439673.6:c.4861C>T | ENSP00000399232.2:p.Gln1621Ter | |
| ENST00000497886.5:n.2893C>T | ||
| ENST00000568454.5:c.5002C>T | ENSP00000454487.1:p.Gln1668Ter | |
| ENST00000569110.1:c.1352C>T | ||
| ENST00000569930.1:n.2285C>T | ||
| NM_000548.3:c.5170C>T , LRG_487t1:c.5170C>T | NP_000539.2:p.Gln1724Ter | |
| NM_001077183.1:c.4969C>T | NP_001070651.1:p.Gln1657Ter | |
| NM_001114382.1:c.5101C>T | NP_001107854.1:p.Gln1701Ter | |
| XM_005255529.3:c.5041C>T | XP_005255586.2:p.Gln1681Ter | |
| XM_005255531.3:c.4972C>T | XP_005255588.2:p.Gln1658Ter | |
| XM_011522636.1:c.5224C>T | XP_011520938.1:p.Gln1742Ter | |
| XM_011522637.1:c.5221C>T | XP_011520939.1:p.Gln1741Ter | |
| XM_011522638.1:c.5113C>T | XP_011520940.1:p.Gln1705Ter | |
| XM_011522639.1:c.5095C>T | XP_011520941.1:p.Gln1699Ter | |
| XM_011522640.1:c.5092C>T | XP_011520942.1:p.Gln1698Ter | |
| XM_011522641.1:c.4861C>T | XP_011520943.1:p.Gln1621Ter | |
| NM_000548.4:c.5170C>T | NP_000539.2:p.Gln1724Ter | |
| NM_001077183.2:c.4969C>T | NP_001070651.1:p.Gln1657Ter | |
| NM_001114382.2:c.5101C>T | NP_001107854.1:p.Gln1701Ter | |
| NM_001318827.1:c.4861C>T | NP_001305756.1:p.Gln1621Ter | |
| NM_001318829.1:c.4825C>T | NP_001305758.1:p.Gln1609Ter | |
| NM_001318831.1:c.4438C>T | NP_001305760.1:p.Gln1480Ter | |
| NM_001318832.1:c.5002C>T | NP_001305761.1:p.Gln1668Ter | |
| NM_001363528.1:c.4972C>T | NP_001350457.1:p.Gln1658Ter | |
| NM_021055.2:c.5041C>T | NP_066399.2:p.Gln1681Ter | |
| XM_005255531.4:c.4972C>T | XP_005255588.2:p.Gln1658Ter | |
| XM_011522636.2:c.5224C>T | XP_011520938.1:p.Gln1742Ter | |
| XM_011522637.2:c.5221C>T | XP_011520939.1:p.Gln1741Ter | |
| XM_011522638.2:c.5386C>T | XP_011520940.2:p.Gln1796Ter | |
| XM_011522639.2:c.5095C>T | XP_011520941.1:p.Gln1699Ter | |
| XM_011522640.2:c.5092C>T | XP_011520942.1:p.Gln1698Ter | |
| XM_017023615.1:c.5167C>T | XP_016879104.1:p.Gln1723Ter | |
| XM_017023616.1:c.5038C>T | XP_016879105.1:p.Gln1680Ter | |
| XM_017023617.1:c.5134C>T | XP_016879106.1:p.Gln1712Ter | |
| XM_017023618.1:c.3880C>T | XP_016879107.1:p.Gln1294Ter | |
| XM_024450413.1:c.5056C>T | XP_024306181.1:p.Gln1686Ter | |
| NM_000548.5:c.5170C>T MANE Select | NP_000539.2:p.Gln1724Ter | |
| NM_001370404.1:c.5038C>T | NP_001357333.1:p.Gln1680Ter | |
| NM_001370405.1:c.5032-3C>T | NP_001357334.1:n.5032-3C>T | |
| NM_001077183.3:c.4969C>T | NP_001070651.1:p.Gln1657Ter | |
| NM_001114382.3:c.5101C>T | NP_001107854.1:p.Gln1701Ter | |
| NM_001318827.2:c.4861C>T | NP_001305756.1:p.Gln1621Ter | |
| NM_001318829.2:c.4825C>T | NP_001305758.1:p.Gln1609Ter | |
| NM_001318831.2:c.4438C>T | NP_001305760.1:p.Gln1480Ter | |
| NM_001318832.2:c.5002C>T | NP_001305761.1:p.Gln1668Ter | |
| NM_001363528.2:c.4972C>T | NP_001350457.1:p.Gln1658Ter | |
| NM_021055.3:c.5041C>T | NP_066399.2:p.Gln1681Ter |