Linked Data
ClinVar Variation Id:
1131522
ClinVar RCV Id:
RCV001465457
dbSNP Id:
rs1015735730
gnomAD v2:
11-17418559-T-C
gnomAD v3:
11-17397012-T-C
gnomAD v4:
11-17397012-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397012T>C , CM000673.2:g.17397012T>C | GRCh38 |
| NC_000011.9:g.17418559T>C , CM000673.1:g.17418559T>C | GRCh37 |
| NC_000011.8:g.17375135T>C | NCBI36 |
| NG_008867.1:g.84891A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3624A>G | ||
| ENST00000528374.2:c.614A>G | ||
| ENST00000529967.6:n.2362A>G | ||
| ENST00000532220.2:n.2271A>G | ||
| ENST00000642611.2:n.4238A>G | ||
| ENST00000644057.2:n.466A>G | ||
| ENST00000645004.2:n.1522A>G | ||
| ENST00000682051.1:n.4185A>G | ||
| ENST00000682110.1:n.4238A>G | ||
| ENST00000682140.1:c.3985+181A>G | ENSP00000507829.1:n.3985+181A>G | |
| ENST00000682185.1:n.5328A>G | ||
| ENST00000682204.1:c.*2161A>G | ENSP00000507094.1:n.*2161A>G | |
| ENST00000682215.1:n.4605A>G | ||
| ENST00000682288.1:c.*2454A>G | ENSP00000507506.1:n.*2454A>G | |
| ENST00000682442.1:n.4458A>G | ||
| ENST00000682528.1:n.4315A>G | ||
| ENST00000682673.1:n.4182A>G | ||
| ENST00000682805.1:n.4605A>G | ||
| ENST00000682965.1:c.*445A>G | ENSP00000508229.1:n.*445A>G | |
| ENST00000683093.1:n.4337A>G | ||
| ENST00000683136.1:c.3906A>G | ENSP00000507768.1:p.Gln1302= | |
| ENST00000683153.1:n.4280A>G | ||
| ENST00000683365.1:n.4340A>G | ||
| ENST00000683377.1:n.4238A>G | ||
| ENST00000683456.1:c.*1160A>G | ENSP00000508318.1:n.*1160A>G | |
| ENST00000683522.1:n.4238A>G | ||
| ENST00000683562.1:c.*2192A>G | ENSP00000508265.1:n.*2192A>G | |
| ENST00000683693.1:n.4685A>G | ||
| ENST00000683725.1:c.4023A>G | ENSP00000507496.1:p.Gln1341= | |
| ENST00000684010.1:n.4233A>G | ||
| ENST00000684157.1:n.4238A>G | ||
| ENST00000684253.1:n.4141A>G | ||
| ENST00000684288.1:c.*2195A>G | ENSP00000507143.1:n.*2195A>G | |
| ENST00000684313.1:n.3670A>G | ||
| ENST00000684332.1:n.4311A>G | ||
| ENST00000684371.1:n.4344A>G | ||
| ENST00000684404.1:n.4281A>G | ||
| ENST00000684442.1:n.4462A>G | ||
| ENST00000684555.1:c.*2235A>G | ENSP00000507705.1:n.*2235A>G | |
| ENST00000684571.1:c.3864A>G | ENSP00000506935.1:p.Gln1288= | |
| ENST00000684593.1:c.*3728A>G | ENSP00000507005.1:n.*3728A>G | |
| ENST00000684711.1:c.*2419A>G | ENSP00000506841.1:n.*2419A>G | |
| ENST00000302539.9:c.4026A>G | ENSP00000303960.4:p.Gln1342= | |
| ENST00000389817.8:c.4023A>G MANE Select | ENSP00000374467.4:p.Gln1341= | |
| ENST00000642271.1:c.4020A>G | ENSP00000493749.1:p.Gln1340= | |
| ENST00000642579.1:c.2077A>G | ||
| ENST00000642611.1:n.4123A>G | ||
| ENST00000642902.1:c.3805A>G | ||
| ENST00000643260.1:c.4023A>G | ENSP00000494450.1:p.Gln1341= | |
| ENST00000643562.1:c.*2145A>G | ENSP00000496124.1:n.*2145A>G | |
| ENST00000643925.1:c.2663A>G | ||
| ENST00000644057.1:n.100A>G | ||
| ENST00000644484.1:c.*2424A>G | ENSP00000493558.1:n.*2424A>G | |
| ENST00000644675.1:c.*2195A>G | ENSP00000494567.1:n.*2195A>G | |
| ENST00000644757.1:c.*2454A>G | ENSP00000495085.1:n.*2454A>G | |
| ENST00000644772.1:c.4089A>G | ENSP00000494321.1:p.Gln1363= | |
| ENST00000645004.1:n.1678A>G | ||
| ENST00000645076.1:c.3222A>G | ||
| ENST00000645417.1:c.1211A>G | ||
| ENST00000645744.1:c.*2803A>G | ENSP00000494564.1:n.*2803A>G | |
| ENST00000645760.1:c.4444A>G | ||
| ENST00000645884.1:c.*1306A>G | ENSP00000495516.1:n.*1306A>G | |
| ENST00000646003.1:c.*2125A>G | ENSP00000495259.1:n.*2125A>G | |
| ENST00000646207.1:c.*2860A>G | ENSP00000495025.1:n.*2860A>G | |
| ENST00000646276.1:c.*2442A>G | ENSP00000496070.1:n.*2442A>G | |
| ENST00000646592.1:c.3329A>G | ||
| ENST00000646902.1:c.3990A>G | ENSP00000494101.1:p.Gln1330= | |
| ENST00000646993.1:c.*2565A>G | ENSP00000493720.1:n.*2565A>G | |
| ENST00000647013.1:c.4029A>G | ENSP00000496741.1:n.4029A>G | |
| ENST00000647015.1:c.3774A>G | ENSP00000495389.1:p.Gln1258= | |
| ENST00000647086.1:c.*3609A>G | ENSP00000493677.1:n.*3609A>G | |
| ENST00000647158.1:c.*2310A>G | ENSP00000495744.1:n.*2310A>G | |
| ENST00000302539.8:c.4026A>G | ENSP00000303960.4:p.Gln1342= | |
| ENST00000389817.7:c.4023A>G | ENSP00000374467.3:p.Gln1341= | |
| ENST00000527905.5:c.*1045A>G | ENSP00000431653.1:n.*1045A>G | |
| ENST00000528374.1:c.505A>G | ||
| ENST00000531137.1:n.588A>G | ||
| ENST00000531891.1:c.361A>G | ||
| ENST00000532220.1:n.497A>G | ||
| NM_000352.4:c.4023A>G | NP_000343.2:p.Gln1341= | |
| NM_001287174.1:c.4026A>G | NP_001274103.1:p.Gln1342= | |
| XM_011520331.1:c.4023A>G | XP_011518633.1:p.Gln1341= | |
| XM_011520332.1:c.4026A>G | XP_011518634.1:p.Gln1342= | |
| XM_011520333.1:c.2523A>G | XP_011518635.1:p.Gln841= | |
| XR_930890.1:n.4089A>G | ||
| NM_001351295.1:c.4089A>G | NP_001338224.1:p.Gln1363= | |
| NM_001351296.1:c.4023A>G | NP_001338225.1:p.Gln1341= | |
| NM_001351297.1:c.4020A>G | NP_001338226.1:p.Gln1340= | |
| NR_147094.1:n.4318A>G | ||
| XM_017018197.2:c.4092A>G | XP_016873686.1:p.Gln1364= | |
| XM_017018199.1:c.4089A>G | XP_016873688.1:p.Gln1363= | |
| XM_017018201.2:c.4092A>G | XP_016873690.1:p.Gln1364= | |
| XM_017018202.1:c.2589A>G | XP_016873691.1:p.Gln863= | |
| XM_017018204.1:c.1980A>G | XP_016873693.1:p.Gln660= | |
| XM_024448668.1:c.2391A>G | XP_024304436.1:p.Gln797= | |
| XR_001747945.2:n.4164A>G | ||
| XR_001747946.2:n.4095A>G | ||
| XR_002957189.1:n.4760A>G | ||
| NM_000352.6:c.4023A>G MANE Select | NP_000343.2:p.Gln1341= | |
| NM_001287174.2:c.4026A>G | NP_001274103.1:p.Gln1342= | |
| NM_001351295.2:c.4089A>G | NP_001338224.1:p.Gln1363= | |
| NM_001351296.2:c.4023A>G | NP_001338225.1:p.Gln1341= | |
| NM_001351297.2:c.4020A>G | NP_001338226.1:p.Gln1340= | |
| NR_147094.2:n.4318A>G | ||
| NM_001287174.3:c.4026A>G | NP_001274103.1:p.Gln1342= |