Linked Data
ClinVar Variation Id:
406050
dbSNP Id:
rs749326176
ExAC:
16:2138277 C / T
gnomAD v2:
16-2138277-C-T
gnomAD v3:
16-2088276-C-T
gnomAD v4:
16-2088276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088276C>T , CM000678.2:g.2088276C>T | GRCh38 |
| NC_000016.9:g.2138277C>T , CM000678.1:g.2138277C>T | GRCh37 |
| NC_000016.8:g.2078278C>T | NCBI36 |
| NG_005895.1:g.43971C>T , LRG_487:g.43971C>T | |
| NG_008617.1:g.54945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3559C>T | ENSP00000455997.2:n.*3559C>T | |
| ENST00000642206.2:c.5057C>T | ENSP00000495146.2:p.Pro1686Leu | |
| ENST00000642365.2:c.5207C>T | ENSP00000495459.2:p.Pro1736Leu | |
| ENST00000644417.2:c.*5723C>T | ENSP00000493912.2:n.*5723C>T | |
| ENST00000646464.2:c.*7959C>T | ENSP00000496610.2:n.*7959C>T | |
| ENST00000219476.9:c.5210C>T MANE Select | ENSP00000219476.3:p.Pro1737Leu | |
| ENST00000350773.9:c.5141C>T | ENSP00000344383.4:p.Pro1714Leu | |
| ENST00000401874.7:c.5009C>T | ENSP00000384468.2:p.Pro1670Leu | |
| ENST00000568454.6:c.5042C>T | ENSP00000454487.1:p.Pro1681Leu | |
| ENST00000569110.2:c.1433C>T | ||
| ENST00000569930.2:n.3092C>T | ||
| ENST00000642365.1:c.3864C>T | ||
| ENST00000642561.1:c.5069C>T | ENSP00000495099.1:p.Pro1690Leu | |
| ENST00000642791.1:n.807C>T | ||
| ENST00000642797.1:c.5012C>T | ENSP00000493846.1:p.Pro1671Leu | |
| ENST00000642936.1:c.5078C>T | ENSP00000494514.1:p.Pro1693Leu | |
| ENST00000643088.1:c.5003C>T | ENSP00000494747.1:p.Pro1668Leu | |
| ENST00000643426.1:n.2858C>T | ||
| ENST00000643946.1:c.5135C>T | ENSP00000495927.1:p.Pro1712Leu | |
| ENST00000644043.1:c.5081C>T | ENSP00000496262.1:p.Pro1694Leu | |
| ENST00000644329.1:c.5096C>T | ENSP00000496611.1:p.Pro1699Leu | |
| ENST00000644335.1:c.5006C>T | ENSP00000496317.1:p.Pro1669Leu | |
| ENST00000644399.1:c.5131C>T | ||
| ENST00000645024.1:n.3294C>T | ||
| ENST00000646388.1:c.5204C>T | ENSP00000495921.1:p.Pro1735Leu | |
| ENST00000646634.1:n.4025C>T | ||
| ENST00000646674.1:n.2462C>T | ||
| ENST00000647042.1:n.2433C>T | ||
| ENST00000647180.1:n.2323C>T | ||
| ENST00000219476.7:c.5210C>T | ENSP00000219476.3:p.Pro1737Leu | |
| ENST00000350773.8:c.5141C>T | ENSP00000344383.4:p.Pro1714Leu | |
| ENST00000382538.10:c.4865C>T | ENSP00000371978.6:p.Pro1622Leu | |
| ENST00000401874.6:c.5009C>T | ENSP00000384468.2:p.Pro1670Leu | |
| ENST00000439117.6:c.*4377C>T | ENSP00000406980.2:n.*4377C>T | |
| ENST00000439673.6:c.4901C>T | ENSP00000399232.2:p.Pro1634Leu | |
| ENST00000497886.5:n.2933C>T | ||
| ENST00000568454.5:c.5042C>T | ENSP00000454487.1:p.Pro1681Leu | |
| ENST00000569110.1:c.1392C>T | ||
| ENST00000569930.1:n.2325C>T | ||
| NM_000548.3:c.5210C>T , LRG_487t1:c.5210C>T | NP_000539.2:p.Pro1737Leu | |
| NM_001077183.1:c.5009C>T | NP_001070651.1:p.Pro1670Leu | |
| NM_001114382.1:c.5141C>T | NP_001107854.1:p.Pro1714Leu | |
| XM_005255529.3:c.5081C>T | XP_005255586.2:p.Pro1694Leu | |
| XM_005255531.3:c.5012C>T | XP_005255588.2:p.Pro1671Leu | |
| XM_011522636.1:c.5264C>T | XP_011520938.1:p.Pro1755Leu | |
| XM_011522637.1:c.5261C>T | XP_011520939.1:p.Pro1754Leu | |
| XM_011522638.1:c.5153C>T | XP_011520940.1:p.Pro1718Leu | |
| XM_011522639.1:c.5135C>T | XP_011520941.1:p.Pro1712Leu | |
| XM_011522640.1:c.5132C>T | XP_011520942.1:p.Pro1711Leu | |
| XM_011522641.1:c.4901C>T | XP_011520943.1:p.Pro1634Leu | |
| NM_000548.4:c.5210C>T | NP_000539.2:p.Pro1737Leu | |
| NM_001077183.2:c.5009C>T | NP_001070651.1:p.Pro1670Leu | |
| NM_001114382.2:c.5141C>T | NP_001107854.1:p.Pro1714Leu | |
| NM_001318827.1:c.4901C>T | NP_001305756.1:p.Pro1634Leu | |
| NM_001318829.1:c.4865C>T | NP_001305758.1:p.Pro1622Leu | |
| NM_001318831.1:c.4478C>T | NP_001305760.1:p.Pro1493Leu | |
| NM_001318832.1:c.5042C>T | NP_001305761.1:p.Pro1681Leu | |
| NM_001363528.1:c.5012C>T | NP_001350457.1:p.Pro1671Leu | |
| NM_021055.2:c.5081C>T | NP_066399.2:p.Pro1694Leu | |
| XM_005255531.4:c.5012C>T | XP_005255588.2:p.Pro1671Leu | |
| XM_011522636.2:c.5264C>T | XP_011520938.1:p.Pro1755Leu | |
| XM_011522637.2:c.5261C>T | XP_011520939.1:p.Pro1754Leu | |
| XM_011522638.2:c.5426C>T | XP_011520940.2:p.Pro1809Leu | |
| XM_011522639.2:c.5135C>T | XP_011520941.1:p.Pro1712Leu | |
| XM_011522640.2:c.5132C>T | XP_011520942.1:p.Pro1711Leu | |
| XM_017023615.1:c.5207C>T | XP_016879104.1:p.Pro1736Leu | |
| XM_017023616.1:c.5078C>T | XP_016879105.1:p.Pro1693Leu | |
| XM_017023617.1:c.5174C>T | XP_016879106.1:p.Pro1725Leu | |
| XM_017023618.1:c.3920C>T | XP_016879107.1:p.Pro1307Leu | |
| XM_024450413.1:c.5096C>T | XP_024306181.1:p.Pro1699Leu | |
| NM_000548.5:c.5210C>T MANE Select | NP_000539.2:p.Pro1737Leu | |
| NM_001370404.1:c.5078C>T | NP_001357333.1:p.Pro1693Leu | |
| NM_001370405.1:c.5069C>T | NP_001357334.1:p.Pro1690Leu | |
| NM_001077183.3:c.5009C>T | NP_001070651.1:p.Pro1670Leu | |
| NM_001114382.3:c.5141C>T | NP_001107854.1:p.Pro1714Leu | |
| NM_001318827.2:c.4901C>T | NP_001305756.1:p.Pro1634Leu | |
| NM_001318829.2:c.4865C>T | NP_001305758.1:p.Pro1622Leu | |
| NM_001318831.2:c.4478C>T | NP_001305760.1:p.Pro1493Leu | |
| NM_001318832.2:c.5042C>T | NP_001305761.1:p.Pro1681Leu | |
| NM_001363528.2:c.5012C>T | NP_001350457.1:p.Pro1671Leu | |
| NM_021055.3:c.5081C>T | NP_066399.2:p.Pro1694Leu |