Linked Data
ClinVar Variation Id:
35609
ClinVar RCV Id:
RCV000029255
RCV000626670
RCV001196917
RCV001249021
RCV001725116
RCV002243661
RCV002243662
dbSNP Id:
rs141322087
ExAC:
11:17426099 C / T
gnomAD v2:
11-17426099-C-T
gnomAD v3:
11-17404552-C-T
gnomAD v4:
11-17404552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404552C>T , CM000673.2:g.17404552C>T | GRCh38 |
| NC_000011.9:g.17426099C>T , CM000673.1:g.17426099C>T | GRCh37 |
| NC_000011.8:g.17382675C>T | NCBI36 |
| NG_008867.1:g.77351G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3086G>A | ||
| ENST00000528374.2:c.96G>A | ||
| ENST00000529967.6:n.1856G>A | ||
| ENST00000532220.2:n.1249G>A | ||
| ENST00000642611.2:n.3586G>A | ||
| ENST00000645004.2:n.1016G>A | ||
| ENST00000682051.1:n.3533G>A | ||
| ENST00000682110.1:n.3586G>A | ||
| ENST00000682140.1:c.3514G>A | ENSP00000507829.1:p.Val1172Met | |
| ENST00000682185.1:n.4822G>A | ||
| ENST00000682204.1:c.*1655G>A | ENSP00000507094.1:n.*1655G>A | |
| ENST00000682215.1:n.3583G>A | ||
| ENST00000682288.1:c.*1948G>A | ENSP00000507506.1:n.*1948G>A | |
| ENST00000682442.1:n.3806G>A | ||
| ENST00000682528.1:n.3663G>A | ||
| ENST00000682673.1:n.3530G>A | ||
| ENST00000682805.1:n.3583G>A | ||
| ENST00000682965.1:c.3396+942G>A | ENSP00000508229.1:n.3396+942G>A | |
| ENST00000683093.1:n.3685G>A | ||
| ENST00000683136.1:c.3514G>A | ENSP00000507768.1:p.Val1172Met | |
| ENST00000683153.1:n.3742G>A | ||
| ENST00000683365.1:n.3688G>A | ||
| ENST00000683377.1:n.3586G>A | ||
| ENST00000683456.1:c.*654G>A | ENSP00000508318.1:n.*654G>A | |
| ENST00000683522.1:n.3586G>A | ||
| ENST00000683562.1:c.*1686G>A | ENSP00000508265.1:n.*1686G>A | |
| ENST00000683693.1:n.3663G>A | ||
| ENST00000683725.1:c.3517G>A | ENSP00000507496.1:p.Val1173Met | |
| ENST00000684010.1:n.3581G>A | ||
| ENST00000684157.1:n.3586G>A | ||
| ENST00000684253.1:n.3489G>A | ||
| ENST00000684288.1:c.*1689G>A | ENSP00000507143.1:n.*1689G>A | |
| ENST00000684313.1:n.3018G>A | ||
| ENST00000684332.1:n.3659G>A | ||
| ENST00000684371.1:n.3692G>A | ||
| ENST00000684404.1:n.3629G>A | ||
| ENST00000684442.1:n.3586G>A | ||
| ENST00000684555.1:c.*1729G>A | ENSP00000507705.1:n.*1729G>A | |
| ENST00000684571.1:c.3358G>A | ENSP00000506935.1:p.Val1120Met | |
| ENST00000684593.1:c.*3222G>A | ENSP00000507005.1:n.*3222G>A | |
| ENST00000684711.1:c.*1913G>A | ENSP00000506841.1:n.*1913G>A | |
| ENST00000302539.9:c.3520G>A | ENSP00000303960.4:p.Val1174Met | |
| ENST00000389817.8:c.3517G>A MANE Select | ENSP00000374467.4:p.Val1173Met | |
| ENST00000642271.1:c.3514G>A | ENSP00000493749.1:p.Val1172Met | |
| ENST00000642579.1:c.1601G>A | ||
| ENST00000642611.1:n.3471G>A | ||
| ENST00000642902.1:c.3299G>A | ||
| ENST00000643260.1:c.3517G>A | ENSP00000494450.1:p.Val1173Met | |
| ENST00000643562.1:c.*1493G>A | ENSP00000496124.1:n.*1493G>A | |
| ENST00000643925.1:c.1641G>A | ||
| ENST00000644447.1:c.1873G>A | ENSP00000496282.1:p.Val625Met | |
| ENST00000644484.1:c.*1772G>A | ENSP00000493558.1:n.*1772G>A | |
| ENST00000644675.1:c.*1689G>A | ENSP00000494567.1:n.*1689G>A | |
| ENST00000644757.1:c.*1802G>A | ENSP00000495085.1:n.*1802G>A | |
| ENST00000644772.1:c.3583G>A | ENSP00000494321.1:p.Val1195Met | |
| ENST00000645004.1:n.656G>A | ||
| ENST00000645076.1:c.2716G>A | ||
| ENST00000645417.1:c.683G>A | ||
| ENST00000645744.1:c.*1781G>A | ENSP00000494564.1:n.*1781G>A | |
| ENST00000645760.1:c.3792G>A | ||
| ENST00000645884.1:c.*654G>A | ENSP00000495516.1:n.*654G>A | |
| ENST00000646003.1:c.*1473G>A | ENSP00000495259.1:n.*1473G>A | |
| ENST00000646207.1:c.*1984G>A | ENSP00000495025.1:n.*1984G>A | |
| ENST00000646276.1:c.*1790G>A | ENSP00000496070.1:n.*1790G>A | |
| ENST00000646592.1:c.2823G>A | ||
| ENST00000646902.1:c.3514G>A | ENSP00000494101.1:p.Val1172Met | |
| ENST00000646993.1:c.*1913G>A | ENSP00000493720.1:n.*1913G>A | |
| ENST00000647013.1:c.3523G>A | ENSP00000496741.1:n.3523G>A | |
| ENST00000647015.1:c.3268G>A | ENSP00000495389.1:p.Val1090Met | |
| ENST00000647086.1:c.*3247G>A | ENSP00000493677.1:n.*3247G>A | |
| ENST00000647158.1:c.*1658G>A | ENSP00000495744.1:n.*1658G>A | |
| ENST00000302539.8:c.3520G>A | ENSP00000303960.4:p.Val1174Met | |
| ENST00000389817.7:c.3517G>A | ENSP00000374467.3:p.Val1173Met | |
| ENST00000524561.1:n.649G>A | ||
| ENST00000527905.5:c.*393G>A | ENSP00000431653.1:n.*393G>A | |
| ENST00000531137.1:n.10G>A | ||
| NM_000352.4:c.3517G>A | NP_000343.2:p.Val1173Met | |
| NM_001287174.1:c.3520G>A | NP_001274103.1:p.Val1174Met | |
| XM_011520331.1:c.3517G>A | XP_011518633.1:p.Val1173Met | |
| XM_011520332.1:c.3520G>A | XP_011518634.1:p.Val1174Met | |
| XM_011520333.1:c.2017G>A | XP_011518635.1:p.Val673Met | |
| XR_930890.1:n.3583G>A | ||
| XR_930892.1:n.3483G>A | ||
| XR_930893.1:n.3480G>A | ||
| NM_001351295.1:c.3583G>A | NP_001338224.1:p.Val1195Met | |
| NM_001351296.1:c.3517G>A | NP_001338225.1:p.Val1173Met | |
| NM_001351297.1:c.3514G>A | NP_001338226.1:p.Val1172Met | |
| NR_147094.1:n.3666G>A | ||
| XM_017018197.2:c.3586G>A | XP_016873686.1:p.Val1196Met | |
| XM_017018199.1:c.3583G>A | XP_016873688.1:p.Val1195Met | |
| XM_017018201.2:c.3586G>A | XP_016873690.1:p.Val1196Met | |
| XM_017018202.1:c.2083G>A | XP_016873691.1:p.Val695Met | |
| XM_017018204.1:c.1474G>A | XP_016873693.1:p.Val492Met | |
| XM_024448668.1:c.1885G>A | XP_024304436.1:p.Val629Met | |
| XR_001747945.2:n.3658G>A | ||
| XR_001747946.2:n.3589G>A | ||
| XR_002957189.1:n.3738G>A | ||
| NM_000352.6:c.3517G>A MANE Select | NP_000343.2:p.Val1173Met | |
| NM_001287174.2:c.3520G>A | NP_001274103.1:p.Val1174Met | |
| NM_001351295.2:c.3583G>A | NP_001338224.1:p.Val1195Met | |
| NM_001351296.2:c.3517G>A | NP_001338225.1:p.Val1173Met | |
| NM_001351297.2:c.3514G>A | NP_001338226.1:p.Val1172Met | |
| NR_147094.2:n.3666G>A | ||
| NM_001287174.3:c.3520G>A | NP_001274103.1:p.Val1174Met |