Linked Data
ClinVar Variation Id:
1804453
ClinVar RCV Id:
RCV002469754
dbSNP Id:
rs1189368827
gnomAD v2:
11-17426111-G-A
gnomAD v4:
11-17404564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404564G>A , CM000673.2:g.17404564G>A | GRCh38 |
| NC_000011.9:g.17426111G>A , CM000673.1:g.17426111G>A | GRCh37 |
| NC_000011.8:g.17382687G>A | NCBI36 |
| NG_008867.1:g.77339C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3074C>T | ||
| ENST00000528374.2:c.84C>T | ||
| ENST00000529967.6:n.1844C>T | ||
| ENST00000532220.2:n.1237C>T | ||
| ENST00000642611.2:n.3574C>T | ||
| ENST00000645004.2:n.1004C>T | ||
| ENST00000682051.1:n.3521C>T | ||
| ENST00000682110.1:n.3574C>T | ||
| ENST00000682140.1:c.3502C>T | ENSP00000507829.1:p.Pro1168Ser | |
| ENST00000682185.1:n.4810C>T | ||
| ENST00000682204.1:c.*1643C>T | ENSP00000507094.1:n.*1643C>T | |
| ENST00000682215.1:n.3571C>T | ||
| ENST00000682288.1:c.*1936C>T | ENSP00000507506.1:n.*1936C>T | |
| ENST00000682442.1:n.3794C>T | ||
| ENST00000682528.1:n.3651C>T | ||
| ENST00000682673.1:n.3518C>T | ||
| ENST00000682805.1:n.3571C>T | ||
| ENST00000682965.1:c.3396+930C>T | ENSP00000508229.1:n.3396+930C>T | |
| ENST00000683093.1:n.3673C>T | ||
| ENST00000683136.1:c.3502C>T | ENSP00000507768.1:p.Pro1168Ser | |
| ENST00000683153.1:n.3730C>T | ||
| ENST00000683365.1:n.3676C>T | ||
| ENST00000683377.1:n.3574C>T | ||
| ENST00000683456.1:c.*642C>T | ENSP00000508318.1:n.*642C>T | |
| ENST00000683522.1:n.3574C>T | ||
| ENST00000683562.1:c.*1674C>T | ENSP00000508265.1:n.*1674C>T | |
| ENST00000683693.1:n.3651C>T | ||
| ENST00000683725.1:c.3505C>T | ENSP00000507496.1:p.Pro1169Ser | |
| ENST00000684010.1:n.3569C>T | ||
| ENST00000684157.1:n.3574C>T | ||
| ENST00000684253.1:n.3477C>T | ||
| ENST00000684288.1:c.*1677C>T | ENSP00000507143.1:n.*1677C>T | |
| ENST00000684313.1:n.3006C>T | ||
| ENST00000684332.1:n.3647C>T | ||
| ENST00000684371.1:n.3680C>T | ||
| ENST00000684404.1:n.3617C>T | ||
| ENST00000684442.1:n.3574C>T | ||
| ENST00000684555.1:c.*1717C>T | ENSP00000507705.1:n.*1717C>T | |
| ENST00000684571.1:c.3346C>T | ENSP00000506935.1:p.Pro1116Ser | |
| ENST00000684593.1:c.*3210C>T | ENSP00000507005.1:n.*3210C>T | |
| ENST00000684711.1:c.*1901C>T | ENSP00000506841.1:n.*1901C>T | |
| ENST00000302539.9:c.3508C>T | ENSP00000303960.4:p.Pro1170Ser | |
| ENST00000389817.8:c.3505C>T MANE Select | ENSP00000374467.4:p.Pro1169Ser | |
| ENST00000642271.1:c.3502C>T | ENSP00000493749.1:p.Pro1168Ser | |
| ENST00000642579.1:c.1589C>T | ||
| ENST00000642611.1:n.3459C>T | ||
| ENST00000642902.1:c.3287C>T | ||
| ENST00000643260.1:c.3505C>T | ENSP00000494450.1:p.Pro1169Ser | |
| ENST00000643562.1:c.*1481C>T | ENSP00000496124.1:n.*1481C>T | |
| ENST00000643925.1:c.1629C>T | ||
| ENST00000644447.1:c.1861C>T | ENSP00000496282.1:p.Pro621Ser | |
| ENST00000644484.1:c.*1760C>T | ENSP00000493558.1:n.*1760C>T | |
| ENST00000644675.1:c.*1677C>T | ENSP00000494567.1:n.*1677C>T | |
| ENST00000644757.1:c.*1790C>T | ENSP00000495085.1:n.*1790C>T | |
| ENST00000644772.1:c.3571C>T | ENSP00000494321.1:p.Pro1191Ser | |
| ENST00000645004.1:n.644C>T | ||
| ENST00000645076.1:c.2704C>T | ||
| ENST00000645417.1:c.671C>T | ||
| ENST00000645744.1:c.*1769C>T | ENSP00000494564.1:n.*1769C>T | |
| ENST00000645760.1:c.3780C>T | ||
| ENST00000645884.1:c.*642C>T | ENSP00000495516.1:n.*642C>T | |
| ENST00000646003.1:c.*1461C>T | ENSP00000495259.1:n.*1461C>T | |
| ENST00000646207.1:c.*1972C>T | ENSP00000495025.1:n.*1972C>T | |
| ENST00000646276.1:c.*1778C>T | ENSP00000496070.1:n.*1778C>T | |
| ENST00000646592.1:c.2811C>T | ||
| ENST00000646902.1:c.3502C>T | ENSP00000494101.1:p.Pro1168Ser | |
| ENST00000646993.1:c.*1901C>T | ENSP00000493720.1:n.*1901C>T | |
| ENST00000647013.1:c.3511C>T | ENSP00000496741.1:n.3511C>T | |
| ENST00000647015.1:c.3256C>T | ENSP00000495389.1:p.Pro1086Ser | |
| ENST00000647086.1:c.*3235C>T | ENSP00000493677.1:n.*3235C>T | |
| ENST00000647158.1:c.*1646C>T | ENSP00000495744.1:n.*1646C>T | |
| ENST00000302539.8:c.3508C>T | ENSP00000303960.4:p.Pro1170Ser | |
| ENST00000389817.7:c.3505C>T | ENSP00000374467.3:p.Pro1169Ser | |
| ENST00000524561.1:n.637C>T | ||
| ENST00000527905.5:c.*381C>T | ENSP00000431653.1:n.*381C>T | |
| NM_000352.4:c.3505C>T | NP_000343.2:p.Pro1169Ser | |
| NM_001287174.1:c.3508C>T | NP_001274103.1:p.Pro1170Ser | |
| XM_011520331.1:c.3505C>T | XP_011518633.1:p.Pro1169Ser | |
| XM_011520332.1:c.3508C>T | XP_011518634.1:p.Pro1170Ser | |
| XM_011520333.1:c.2005C>T | XP_011518635.1:p.Pro669Ser | |
| XR_930890.1:n.3571C>T | ||
| XR_930892.1:n.3471C>T | ||
| XR_930893.1:n.3468C>T | ||
| NM_001351295.1:c.3571C>T | NP_001338224.1:p.Pro1191Ser | |
| NM_001351296.1:c.3505C>T | NP_001338225.1:p.Pro1169Ser | |
| NM_001351297.1:c.3502C>T | NP_001338226.1:p.Pro1168Ser | |
| NR_147094.1:n.3654C>T | ||
| XM_017018197.2:c.3574C>T | XP_016873686.1:p.Pro1192Ser | |
| XM_017018199.1:c.3571C>T | XP_016873688.1:p.Pro1191Ser | |
| XM_017018201.2:c.3574C>T | XP_016873690.1:p.Pro1192Ser | |
| XM_017018202.1:c.2071C>T | XP_016873691.1:p.Pro691Ser | |
| XM_017018204.1:c.1462C>T | XP_016873693.1:p.Pro488Ser | |
| XM_024448668.1:c.1873C>T | XP_024304436.1:p.Pro625Ser | |
| XR_001747945.2:n.3646C>T | ||
| XR_001747946.2:n.3577C>T | ||
| XR_002957189.1:n.3726C>T | ||
| NM_000352.6:c.3505C>T MANE Select | NP_000343.2:p.Pro1169Ser | |
| NM_001287174.2:c.3508C>T | NP_001274103.1:p.Pro1170Ser | |
| NM_001351295.2:c.3571C>T | NP_001338224.1:p.Pro1191Ser | |
| NM_001351296.2:c.3505C>T | NP_001338225.1:p.Pro1169Ser | |
| NM_001351297.2:c.3502C>T | NP_001338226.1:p.Pro1168Ser | |
| NR_147094.2:n.3654C>T | ||
| NM_001287174.3:c.3508C>T | NP_001274103.1:p.Pro1170Ser |