Linked Data
ClinVar Variation Id:
2984092
ClinVar RCV Id:
RCV003843251
dbSNP Id:
rs994505434
gnomAD v3:
11-17395832-G-T
gnomAD v4:
11-17395832-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395832G>T , CM000673.2:g.17395832G>T | GRCh38 |
| NC_000011.9:g.17417379G>T , CM000673.1:g.17417379G>T | GRCh37 |
| NC_000011.8:g.17373955G>T | NCBI36 |
| NG_008867.1:g.86071C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3799+20C>A | ||
| ENST00000528374.2:c.789+20C>A | ||
| ENST00000529967.6:n.2537+20C>A | ||
| ENST00000532220.2:n.3431+20C>A | ||
| ENST00000642611.2:n.5418C>A | ||
| ENST00000644057.2:n.661C>A | ||
| ENST00000645004.2:n.1697+20C>A | ||
| ENST00000682051.1:n.4360+20C>A | ||
| ENST00000682110.1:n.4413+20C>A | ||
| ENST00000682140.1:c.4064+20C>A | ENSP00000507829.1:n.4064+20C>A | |
| ENST00000682185.1:n.5503+20C>A | ||
| ENST00000682204.1:c.*2336+20C>A | ENSP00000507094.1:n.*2336+20C>A | |
| ENST00000682215.1:n.4780+20C>A | ||
| ENST00000682288.1:c.*2629+20C>A | ENSP00000507506.1:n.*2629+20C>A | |
| ENST00000682442.1:n.4633+20C>A | ||
| ENST00000682528.1:n.4490+20C>A | ||
| ENST00000682673.1:n.4357+20C>A | ||
| ENST00000682805.1:n.4818+20C>A | ||
| ENST00000682965.1:c.*620+20C>A | ENSP00000508229.1:n.*620+20C>A | |
| ENST00000683093.1:n.5497+20C>A | ||
| ENST00000683136.1:c.4081+20C>A | ENSP00000507768.1:n.4081+20C>A | |
| ENST00000683153.1:n.4455+20C>A | ||
| ENST00000683365.1:n.4515+20C>A | ||
| ENST00000683377.1:n.4413+20C>A | ||
| ENST00000683456.1:c.*1335+20C>A | ENSP00000508318.1:n.*1335+20C>A | |
| ENST00000683522.1:n.4413+20C>A | ||
| ENST00000683562.1:c.*2367+20C>A | ENSP00000508265.1:n.*2367+20C>A | |
| ENST00000683693.1:n.5865C>A | ||
| ENST00000683725.1:c.4198+20C>A | ENSP00000507496.1:n.4198+20C>A | |
| ENST00000684010.1:n.4408+20C>A | ||
| ENST00000684157.1:n.5398+20C>A | ||
| ENST00000684253.1:n.4316+20C>A | ||
| ENST00000684288.1:c.*2370+20C>A | ENSP00000507143.1:n.*2370+20C>A | |
| ENST00000684313.1:n.3845+20C>A | ||
| ENST00000684332.1:n.4486+20C>A | ||
| ENST00000684371.1:n.4519+20C>A | ||
| ENST00000684404.1:n.5441+20C>A | ||
| ENST00000684442.1:n.4637+20C>A | ||
| ENST00000684555.1:c.*2410+20C>A | ENSP00000507705.1:n.*2410+20C>A | |
| ENST00000684571.1:c.4039+20C>A | ENSP00000506935.1:n.4039+20C>A | |
| ENST00000684593.1:c.*3903+20C>A | ENSP00000507005.1:n.*3903+20C>A | |
| ENST00000684711.1:c.*2594+20C>A | ENSP00000506841.1:n.*2594+20C>A | |
| ENST00000302539.9:c.4201+20C>A | ENSP00000303960.4:n.4201+20C>A | |
| ENST00000389817.8:c.4198+20C>A MANE Select | ENSP00000374467.4:n.4198+20C>A | |
| ENST00000642271.1:c.4195+20C>A | ENSP00000493749.1:n.4195+20C>A | |
| ENST00000642579.1:c.2252+20C>A | ||
| ENST00000642611.1:n.5303C>A | ||
| ENST00000642902.1:c.3980+20C>A | ||
| ENST00000643260.1:c.4198+20C>A | ENSP00000494450.1:n.4198+20C>A | |
| ENST00000643562.1:c.*2320+20C>A | ENSP00000496124.1:n.*2320+20C>A | |
| ENST00000643925.1:c.2838+20C>A | ||
| ENST00000644057.1:n.275+20C>A | ||
| ENST00000644484.1:c.*3584+20C>A | ENSP00000493558.1:n.*3584+20C>A | |
| ENST00000644675.1:c.*2370+20C>A | ENSP00000494567.1:n.*2370+20C>A | |
| ENST00000644757.1:c.*3202+432C>A | ENSP00000495085.1:n.*3202+432C>A | |
| ENST00000644772.1:c.4264+20C>A | ENSP00000494321.1:n.4264+20C>A | |
| ENST00000645004.1:n.1891+20C>A | ||
| ENST00000645076.1:c.3397+20C>A | ||
| ENST00000645417.1:c.1386+20C>A | ||
| ENST00000645744.1:c.*3963+20C>A | ENSP00000494564.1:n.*3963+20C>A | |
| ENST00000645760.1:c.4619+20C>A | ||
| ENST00000645884.1:c.*1481+20C>A | ENSP00000495516.1:n.*1481+20C>A | |
| ENST00000646003.1:c.*2300+20C>A | ENSP00000495259.1:n.*2300+20C>A | |
| ENST00000646207.1:c.*3035+20C>A | ENSP00000495025.1:n.*3035+20C>A | |
| ENST00000646276.1:c.*3602+20C>A | ENSP00000496070.1:n.*3602+20C>A | |
| ENST00000646592.1:c.3504+20C>A | ||
| ENST00000646902.1:c.4165+20C>A | ENSP00000494101.1:n.4165+20C>A | |
| ENST00000646993.1:c.*2740+20C>A | ENSP00000493720.1:n.*2740+20C>A | |
| ENST00000647013.1:c.4204+20C>A | ENSP00000496741.1:n.4204+20C>A | |
| ENST00000647015.1:c.3949+20C>A | ENSP00000495389.1:n.3949+20C>A | |
| ENST00000647086.1:c.*3784+20C>A | ENSP00000493677.1:n.*3784+20C>A | |
| ENST00000647158.1:c.*2485+20C>A | ENSP00000495744.1:n.*2485+20C>A | |
| ENST00000302539.8:c.4201+20C>A | ENSP00000303960.4:n.4201+20C>A | |
| ENST00000389817.7:c.4198+20C>A | ENSP00000374467.3:n.4198+20C>A | |
| ENST00000525022.1:n.84C>A | ||
| ENST00000526168.5:c.66+20C>A | ||
| ENST00000531642.5:c.34+20C>A | ||
| NM_000352.4:c.4198+20C>A | NP_000343.2:n.4198+20C>A | |
| NM_001287174.1:c.4201+20C>A | NP_001274103.1:n.4201+20C>A | |
| XM_011520331.1:c.4198+20C>A | XP_011518633.1:n.4198+20C>A | |
| XM_011520332.1:c.4201+20C>A | XP_011518634.1:n.4201+20C>A | |
| XM_011520333.1:c.2698+20C>A | XP_011518635.1:n.2698+20C>A | |
| XR_930890.1:n.4264+20C>A | ||
| NM_001351295.1:c.4264+20C>A | NP_001338224.1:n.4264+20C>A | |
| NM_001351296.1:c.4198+20C>A | NP_001338225.1:n.4198+20C>A | |
| NM_001351297.1:c.4195+20C>A | NP_001338226.1:n.4195+20C>A | |
| NR_147094.1:n.4493+20C>A | ||
| XM_017018197.2:c.4267+20C>A | XP_016873686.1:n.4267+20C>A | |
| XM_017018199.1:c.4264+20C>A | XP_016873688.1:n.4264+20C>A | |
| XM_017018201.2:c.4267+20C>A | XP_016873690.1:n.4267+20C>A | |
| XM_017018202.1:c.2764+20C>A | XP_016873691.1:n.2764+20C>A | |
| XM_017018204.1:c.2155+20C>A | XP_016873693.1:n.2155+20C>A | |
| XM_024448668.1:c.2566+20C>A | XP_024304436.1:n.2566+20C>A | |
| XR_001747945.2:n.4339+20C>A | ||
| XR_001747946.2:n.4270+20C>A | ||
| XR_002957189.1:n.5940C>A | ||
| NM_000352.6:c.4198+20C>A MANE Select | NP_000343.2:n.4198+20C>A | |
| NM_001287174.2:c.4201+20C>A | NP_001274103.1:n.4201+20C>A | |
| NM_001351295.2:c.4264+20C>A | NP_001338224.1:n.4264+20C>A | |
| NM_001351296.2:c.4198+20C>A | NP_001338225.1:n.4198+20C>A | |
| NM_001351297.2:c.4195+20C>A | NP_001338226.1:n.4195+20C>A | |
| NR_147094.2:n.4493+20C>A | ||
| NM_001287174.3:c.4201+20C>A | NP_001274103.1:n.4201+20C>A |