Linked Data
ClinVar Variation Id:
2137009
ClinVar RCV Id:
RCV003037372
dbSNP Id:
rs769279368
gnomAD v3:
11-17395872-C-A
gnomAD v4:
11-17395872-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395872C>A , CM000673.2:g.17395872C>A | GRCh38 |
| NC_000011.9:g.17417419C>A , CM000673.1:g.17417419C>A | GRCh37 |
| NC_000011.8:g.17373995C>A | NCBI36 |
| NG_008867.1:g.86031G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3779G>T | ||
| ENST00000528374.2:c.769G>T | ||
| ENST00000529967.6:n.2517G>T | ||
| ENST00000532220.2:n.3411G>T | ||
| ENST00000642611.2:n.5378G>T | ||
| ENST00000644057.2:n.621G>T | ||
| ENST00000645004.2:n.1677G>T | ||
| ENST00000682051.1:n.4340G>T | ||
| ENST00000682110.1:n.4393G>T | ||
| ENST00000682140.1:c.4044G>T | ENSP00000507829.1:p.Pro1348= | |
| ENST00000682185.1:n.5483G>T | ||
| ENST00000682204.1:c.*2316G>T | ENSP00000507094.1:n.*2316G>T | |
| ENST00000682215.1:n.4760G>T | ||
| ENST00000682288.1:c.*2609G>T | ENSP00000507506.1:n.*2609G>T | |
| ENST00000682442.1:n.4613G>T | ||
| ENST00000682528.1:n.4470G>T | ||
| ENST00000682673.1:n.4337G>T | ||
| ENST00000682805.1:n.4798G>T | ||
| ENST00000682965.1:c.*600G>T | ENSP00000508229.1:n.*600G>T | |
| ENST00000683093.1:n.5477G>T | ||
| ENST00000683136.1:c.4061G>T | ENSP00000507768.1:p.Arg1354Leu | |
| ENST00000683153.1:n.4435G>T | ||
| ENST00000683365.1:n.4495G>T | ||
| ENST00000683377.1:n.4393G>T | ||
| ENST00000683456.1:c.*1315G>T | ENSP00000508318.1:n.*1315G>T | |
| ENST00000683522.1:n.4393G>T | ||
| ENST00000683562.1:c.*2347G>T | ENSP00000508265.1:n.*2347G>T | |
| ENST00000683693.1:n.5825G>T | ||
| ENST00000683725.1:c.4178G>T | ENSP00000507496.1:p.Arg1393Leu | |
| ENST00000684010.1:n.4388G>T | ||
| ENST00000684157.1:n.5378G>T | ||
| ENST00000684253.1:n.4296G>T | ||
| ENST00000684288.1:c.*2350G>T | ENSP00000507143.1:n.*2350G>T | |
| ENST00000684313.1:n.3825G>T | ||
| ENST00000684332.1:n.4466G>T | ||
| ENST00000684371.1:n.4499G>T | ||
| ENST00000684404.1:n.5421G>T | ||
| ENST00000684442.1:n.4617G>T | ||
| ENST00000684555.1:c.*2390G>T | ENSP00000507705.1:n.*2390G>T | |
| ENST00000684571.1:c.4019G>T | ENSP00000506935.1:p.Arg1340Leu | |
| ENST00000684593.1:c.*3883G>T | ENSP00000507005.1:n.*3883G>T | |
| ENST00000684711.1:c.*2574G>T | ENSP00000506841.1:n.*2574G>T | |
| ENST00000302539.9:c.4181G>T | ENSP00000303960.4:p.Arg1394Leu | |
| ENST00000389817.8:c.4178G>T MANE Select | ENSP00000374467.4:p.Arg1393Leu | |
| ENST00000642271.1:c.4175G>T | ENSP00000493749.1:p.Arg1392Leu | |
| ENST00000642579.1:c.2232G>T | ||
| ENST00000642611.1:n.5263G>T | ||
| ENST00000642902.1:c.3960G>T | ||
| ENST00000643260.1:c.4178G>T | ENSP00000494450.1:p.Arg1393Leu | |
| ENST00000643562.1:c.*2300G>T | ENSP00000496124.1:n.*2300G>T | |
| ENST00000643925.1:c.2818G>T | ||
| ENST00000644057.1:n.255G>T | ||
| ENST00000644484.1:c.*3564G>T | ENSP00000493558.1:n.*3564G>T | |
| ENST00000644675.1:c.*2350G>T | ENSP00000494567.1:n.*2350G>T | |
| ENST00000644757.1:c.*3202+392G>T | ENSP00000495085.1:n.*3202+392G>T | |
| ENST00000644772.1:c.4244G>T | ENSP00000494321.1:p.Arg1415Leu | |
| ENST00000645004.1:n.1871G>T | ||
| ENST00000645076.1:c.3377G>T | ||
| ENST00000645417.1:c.1366G>T | ||
| ENST00000645744.1:c.*3943G>T | ENSP00000494564.1:n.*3943G>T | |
| ENST00000645760.1:c.4599G>T | ||
| ENST00000645884.1:c.*1461G>T | ENSP00000495516.1:n.*1461G>T | |
| ENST00000646003.1:c.*2280G>T | ENSP00000495259.1:n.*2280G>T | |
| ENST00000646207.1:c.*3015G>T | ENSP00000495025.1:n.*3015G>T | |
| ENST00000646276.1:c.*3582G>T | ENSP00000496070.1:n.*3582G>T | |
| ENST00000646592.1:c.3484G>T | ||
| ENST00000646902.1:c.4145G>T | ENSP00000494101.1:p.Arg1382Leu | |
| ENST00000646993.1:c.*2720G>T | ENSP00000493720.1:n.*2720G>T | |
| ENST00000647013.1:c.4184G>T | ENSP00000496741.1:n.4184G>T | |
| ENST00000647015.1:c.3929G>T | ENSP00000495389.1:p.Arg1310Leu | |
| ENST00000647086.1:c.*3764G>T | ENSP00000493677.1:n.*3764G>T | |
| ENST00000647158.1:c.*2465G>T | ENSP00000495744.1:n.*2465G>T | |
| ENST00000302539.8:c.4181G>T | ENSP00000303960.4:p.Arg1394Leu | |
| ENST00000389817.7:c.4178G>T | ENSP00000374467.3:p.Arg1393Leu | |
| ENST00000525022.1:n.44G>T | ||
| ENST00000526168.5:c.46G>T | ||
| ENST00000531642.5:c.14G>T | ||
| NM_000352.4:c.4178G>T | NP_000343.2:p.Arg1393Leu | |
| NM_001287174.1:c.4181G>T | NP_001274103.1:p.Arg1394Leu | |
| XM_011520331.1:c.4178G>T | XP_011518633.1:p.Arg1393Leu | |
| XM_011520332.1:c.4181G>T | XP_011518634.1:p.Arg1394Leu | |
| XM_011520333.1:c.2678G>T | XP_011518635.1:p.Arg893Leu | |
| XR_930890.1:n.4244G>T | ||
| NM_001351295.1:c.4244G>T | NP_001338224.1:p.Arg1415Leu | |
| NM_001351296.1:c.4178G>T | NP_001338225.1:p.Arg1393Leu | |
| NM_001351297.1:c.4175G>T | NP_001338226.1:p.Arg1392Leu | |
| NR_147094.1:n.4473G>T | ||
| XM_017018197.2:c.4247G>T | XP_016873686.1:p.Arg1416Leu | |
| XM_017018199.1:c.4244G>T | XP_016873688.1:p.Arg1415Leu | |
| XM_017018201.2:c.4247G>T | XP_016873690.1:p.Arg1416Leu | |
| XM_017018202.1:c.2744G>T | XP_016873691.1:p.Arg915Leu | |
| XM_017018204.1:c.2135G>T | XP_016873693.1:p.Arg712Leu | |
| XM_024448668.1:c.2546G>T | XP_024304436.1:p.Arg849Leu | |
| XR_001747945.2:n.4319G>T | ||
| XR_001747946.2:n.4250G>T | ||
| XR_002957189.1:n.5900G>T | ||
| NM_000352.6:c.4178G>T MANE Select | NP_000343.2:p.Arg1393Leu | |
| NM_001287174.2:c.4181G>T | NP_001274103.1:p.Arg1394Leu | |
| NM_001351295.2:c.4244G>T | NP_001338224.1:p.Arg1415Leu | |
| NM_001351296.2:c.4178G>T | NP_001338225.1:p.Arg1393Leu | |
| NM_001351297.2:c.4175G>T | NP_001338226.1:p.Arg1392Leu | |
| NR_147094.2:n.4473G>T | ||
| NM_001287174.3:c.4181G>T | NP_001274103.1:p.Arg1394Leu |