ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394379C>G , CM000673.2:g.17394379C>G | GRCh38 |
| NC_000011.9:g.17415926C>G , CM000673.1:g.17415926C>G | GRCh37 |
| NC_000011.8:g.17372502C>G | NCBI36 |
| NG_008867.1:g.87524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4033G>C | ||
| ENST00000526037.6:n.367G>C | ||
| ENST00000528374.2:c.1023G>C | ||
| ENST00000529967.6:n.2771G>C | ||
| ENST00000532220.2:n.3665G>C | ||
| ENST00000642611.2:n.5765G>C | ||
| ENST00000644057.2:n.1008G>C | ||
| ENST00000645004.2:n.1931G>C | ||
| ENST00000682051.1:n.4594G>C | ||
| ENST00000682110.1:n.4647G>C | ||
| ENST00000682140.1:c.*218G>C | ENSP00000507829.1:n.*218G>C | |
| ENST00000682185.1:n.5737G>C | ||
| ENST00000682204.1:c.*2570G>C | ENSP00000507094.1:n.*2570G>C | |
| ENST00000682215.1:n.5014G>C | ||
| ENST00000682288.1:c.*2863G>C | ENSP00000507506.1:n.*2863G>C | |
| ENST00000682442.1:n.4867G>C | ||
| ENST00000682528.1:n.4724G>C | ||
| ENST00000682673.1:n.4591G>C | ||
| ENST00000682805.1:n.5052G>C | ||
| ENST00000682965.1:c.*854G>C | ENSP00000508229.1:n.*854G>C | |
| ENST00000683093.1:n.5627G>C | ||
| ENST00000683136.1:c.4315G>C | ENSP00000507768.1:p.Gly1439Arg | |
| ENST00000683153.1:n.4689G>C | ||
| ENST00000683365.1:n.4749G>C | ||
| ENST00000683377.1:n.4543G>C | ||
| ENST00000683456.1:c.*1569G>C | ENSP00000508318.1:n.*1569G>C | |
| ENST00000683522.1:n.4729G>C | ||
| ENST00000683562.1:c.*2497G>C | ENSP00000508265.1:n.*2497G>C | |
| ENST00000683693.1:n.6108G>C | ||
| ENST00000683725.1:c.4328G>C | ENSP00000507496.1:p.Arg1443Pro | |
| ENST00000684010.1:n.4642G>C | ||
| ENST00000684014.1:n.619G>C | ||
| ENST00000684157.1:n.5632G>C | ||
| ENST00000684253.1:n.4550G>C | ||
| ENST00000684288.1:c.*2604G>C | ENSP00000507143.1:n.*2604G>C | |
| ENST00000684313.1:n.4079G>C | ||
| ENST00000684332.1:n.4720G>C | ||
| ENST00000684371.1:n.4753G>C | ||
| ENST00000684404.1:n.5675G>C | ||
| ENST00000684442.1:n.4871G>C | ||
| ENST00000684555.1:c.*2644G>C | ENSP00000507705.1:n.*2644G>C | |
| ENST00000684571.1:c.4273G>C | ENSP00000506935.1:p.Gly1425Arg | |
| ENST00000684593.1:c.*4137G>C | ENSP00000507005.1:n.*4137G>C | |
| ENST00000684711.1:c.*2828G>C | ENSP00000506841.1:n.*2828G>C | |
| ENST00000302539.9:c.4435G>C | ENSP00000303960.4:p.Gly1479Arg | |
| ENST00000389817.8:c.4432G>C MANE Select | ENSP00000374467.4:p.Gly1478Arg | |
| ENST00000642271.1:c.4429G>C | ENSP00000493749.1:p.Gly1477Arg | |
| ENST00000642579.1:c.2486G>C | ||
| ENST00000642611.1:n.5650G>C | ||
| ENST00000642902.1:c.4214G>C | ||
| ENST00000643260.1:c.4432G>C | ENSP00000494450.1:p.Gly1478Arg | |
| ENST00000643562.1:c.*2554G>C | ENSP00000496124.1:n.*2554G>C | |
| ENST00000643925.1:c.3072G>C | ||
| ENST00000644057.1:n.591G>C | ||
| ENST00000644484.1:c.*3818G>C | ENSP00000493558.1:n.*3818G>C | |
| ENST00000644675.1:c.*2604G>C | ENSP00000494567.1:n.*2604G>C | |
| ENST00000644757.1:c.*3203-1399G>C | ENSP00000495085.1:n.*3203-1399G>C | |
| ENST00000644772.1:c.4498G>C | ENSP00000494321.1:p.Gly1500Arg | |
| ENST00000645004.1:n.2125G>C | ||
| ENST00000645076.1:c.3527G>C | ||
| ENST00000645417.1:c.1620G>C | ||
| ENST00000645744.1:c.*4117G>C | ENSP00000494564.1:n.*4117G>C | |
| ENST00000645760.1:c.4853G>C | ||
| ENST00000645884.1:c.*1715G>C | ENSP00000495516.1:n.*1715G>C | |
| ENST00000646003.1:c.*2454G>C | ENSP00000495259.1:n.*2454G>C | |
| ENST00000646207.1:c.*3269G>C | ENSP00000495025.1:n.*3269G>C | |
| ENST00000646276.1:c.*3836G>C | ENSP00000496070.1:n.*3836G>C | |
| ENST00000646592.1:c.3738G>C | ||
| ENST00000646902.1:c.4399G>C | ENSP00000494101.1:p.Gly1467Arg | |
| ENST00000646993.1:c.*2870G>C | ENSP00000493720.1:n.*2870G>C | |
| ENST00000647013.1:c.4438G>C | ENSP00000496741.1:n.4438G>C | |
| ENST00000647015.1:c.4183G>C | ENSP00000495389.1:p.Gly1395Arg | |
| ENST00000647086.1:c.*4018G>C | ENSP00000493677.1:n.*4018G>C | |
| ENST00000647158.1:c.*2719G>C | ENSP00000495744.1:n.*2719G>C | |
| ENST00000302539.8:c.4435G>C | ENSP00000303960.4:p.Gly1479Arg | |
| ENST00000389817.7:c.4432G>C | ENSP00000374467.3:p.Gly1478Arg | |
| ENST00000525022.1:n.327G>C | ||
| ENST00000526037.5:n.192G>C | ||
| ENST00000526168.5:c.220G>C | ||
| ENST00000531642.5:c.463G>C | ||
| NM_000352.4:c.4432G>C | NP_000343.2:p.Gly1478Arg | |
| NM_001287174.1:c.4435G>C | NP_001274103.1:p.Gly1479Arg | |
| XM_011520331.1:c.4432G>C | XP_011518633.1:p.Gly1478Arg | |
| XM_011520332.1:c.4331G>C | XP_011518634.1:p.Arg1444Pro | |
| XM_011520333.1:c.2932G>C | XP_011518635.1:p.Gly978Arg | |
| XR_930890.1:n.4394G>C | ||
| NM_001351295.1:c.4498G>C | NP_001338224.1:p.Gly1500Arg | |
| NM_001351296.1:c.4432G>C | NP_001338225.1:p.Gly1478Arg | |
| NM_001351297.1:c.4429G>C | NP_001338226.1:p.Gly1477Arg | |
| NR_147094.1:n.4727G>C | ||
| XM_017018197.2:c.4501G>C | XP_016873686.1:p.Gly1501Arg | |
| XM_017018199.1:c.4498G>C | XP_016873688.1:p.Gly1500Arg | |
| XM_017018201.2:c.4397G>C | XP_016873690.1:p.Arg1466Pro | |
| XM_017018202.1:c.2998G>C | XP_016873691.1:p.Gly1000Arg | |
| XM_017018204.1:c.2389G>C | XP_016873693.1:p.Gly797Arg | |
| XM_024448668.1:c.2800G>C | XP_024304436.1:p.Gly934Arg | |
| XR_001747945.2:n.4469G>C | ||
| XR_001747946.2:n.4400G>C | ||
| XR_002957189.1:n.6183G>C | ||
| NM_000352.6:c.4432G>C MANE Select | NP_000343.2:p.Gly1478Arg | |
| NM_001287174.2:c.4435G>C | NP_001274103.1:p.Gly1479Arg | |
| NM_001351295.2:c.4498G>C | NP_001338224.1:p.Gly1500Arg | |
| NM_001351296.2:c.4432G>C | NP_001338225.1:p.Gly1478Arg | |
| NM_001351297.2:c.4429G>C | NP_001338226.1:p.Gly1477Arg | |
| NR_147094.2:n.4727G>C | ||
| NM_001287174.3:c.4435G>C | NP_001274103.1:p.Gly1479Arg |