Linked Data
ClinVar Variation Id:
1520966
ClinVar RCV Id:
RCV002031025
dbSNP Id:
rs562677120
gnomAD v2:
11-17417417-T-C
gnomAD v3:
11-17395870-T-C
gnomAD v4:
11-17395870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395870T>C , CM000673.2:g.17395870T>C | GRCh38 |
| NC_000011.9:g.17417417T>C , CM000673.1:g.17417417T>C | GRCh37 |
| NC_000011.8:g.17373993T>C | NCBI36 |
| NG_008867.1:g.86033A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3781A>G | ||
| ENST00000528374.2:c.771A>G | ||
| ENST00000529967.6:n.2519A>G | ||
| ENST00000532220.2:n.3413A>G | ||
| ENST00000642611.2:n.5380A>G | ||
| ENST00000644057.2:n.623A>G | ||
| ENST00000645004.2:n.1679A>G | ||
| ENST00000682051.1:n.4342A>G | ||
| ENST00000682110.1:n.4395A>G | ||
| ENST00000682140.1:c.4046A>G | ENSP00000507829.1:p.His1349Arg | |
| ENST00000682185.1:n.5485A>G | ||
| ENST00000682204.1:c.*2318A>G | ENSP00000507094.1:n.*2318A>G | |
| ENST00000682215.1:n.4762A>G | ||
| ENST00000682288.1:c.*2611A>G | ENSP00000507506.1:n.*2611A>G | |
| ENST00000682442.1:n.4615A>G | ||
| ENST00000682528.1:n.4472A>G | ||
| ENST00000682673.1:n.4339A>G | ||
| ENST00000682805.1:n.4800A>G | ||
| ENST00000682965.1:c.*602A>G | ENSP00000508229.1:n.*602A>G | |
| ENST00000683093.1:n.5479A>G | ||
| ENST00000683136.1:c.4063A>G | ENSP00000507768.1:p.Met1355Val | |
| ENST00000683153.1:n.4437A>G | ||
| ENST00000683365.1:n.4497A>G | ||
| ENST00000683377.1:n.4395A>G | ||
| ENST00000683456.1:c.*1317A>G | ENSP00000508318.1:n.*1317A>G | |
| ENST00000683522.1:n.4395A>G | ||
| ENST00000683562.1:c.*2349A>G | ENSP00000508265.1:n.*2349A>G | |
| ENST00000683693.1:n.5827A>G | ||
| ENST00000683725.1:c.4180A>G | ENSP00000507496.1:p.Met1394Val | |
| ENST00000684010.1:n.4390A>G | ||
| ENST00000684157.1:n.5380A>G | ||
| ENST00000684253.1:n.4298A>G | ||
| ENST00000684288.1:c.*2352A>G | ENSP00000507143.1:n.*2352A>G | |
| ENST00000684313.1:n.3827A>G | ||
| ENST00000684332.1:n.4468A>G | ||
| ENST00000684371.1:n.4501A>G | ||
| ENST00000684404.1:n.5423A>G | ||
| ENST00000684442.1:n.4619A>G | ||
| ENST00000684555.1:c.*2392A>G | ENSP00000507705.1:n.*2392A>G | |
| ENST00000684571.1:c.4021A>G | ENSP00000506935.1:p.Met1341Val | |
| ENST00000684593.1:c.*3885A>G | ENSP00000507005.1:n.*3885A>G | |
| ENST00000684711.1:c.*2576A>G | ENSP00000506841.1:n.*2576A>G | |
| ENST00000302539.9:c.4183A>G | ENSP00000303960.4:p.Met1395Val | |
| ENST00000389817.8:c.4180A>G MANE Select | ENSP00000374467.4:p.Met1394Val | |
| ENST00000642271.1:c.4177A>G | ENSP00000493749.1:p.Met1393Val | |
| ENST00000642579.1:c.2234A>G | ||
| ENST00000642611.1:n.5265A>G | ||
| ENST00000642902.1:c.3962A>G | ||
| ENST00000643260.1:c.4180A>G | ENSP00000494450.1:p.Met1394Val | |
| ENST00000643562.1:c.*2302A>G | ENSP00000496124.1:n.*2302A>G | |
| ENST00000643925.1:c.2820A>G | ||
| ENST00000644057.1:n.257A>G | ||
| ENST00000644484.1:c.*3566A>G | ENSP00000493558.1:n.*3566A>G | |
| ENST00000644675.1:c.*2352A>G | ENSP00000494567.1:n.*2352A>G | |
| ENST00000644757.1:c.*3202+394A>G | ENSP00000495085.1:n.*3202+394A>G | |
| ENST00000644772.1:c.4246A>G | ENSP00000494321.1:p.Met1416Val | |
| ENST00000645004.1:n.1873A>G | ||
| ENST00000645076.1:c.3379A>G | ||
| ENST00000645417.1:c.1368A>G | ||
| ENST00000645744.1:c.*3945A>G | ENSP00000494564.1:n.*3945A>G | |
| ENST00000645760.1:c.4601A>G | ||
| ENST00000645884.1:c.*1463A>G | ENSP00000495516.1:n.*1463A>G | |
| ENST00000646003.1:c.*2282A>G | ENSP00000495259.1:n.*2282A>G | |
| ENST00000646207.1:c.*3017A>G | ENSP00000495025.1:n.*3017A>G | |
| ENST00000646276.1:c.*3584A>G | ENSP00000496070.1:n.*3584A>G | |
| ENST00000646592.1:c.3486A>G | ||
| ENST00000646902.1:c.4147A>G | ENSP00000494101.1:p.Met1383Val | |
| ENST00000646993.1:c.*2722A>G | ENSP00000493720.1:n.*2722A>G | |
| ENST00000647013.1:c.4186A>G | ENSP00000496741.1:n.4186A>G | |
| ENST00000647015.1:c.3931A>G | ENSP00000495389.1:p.Met1311Val | |
| ENST00000647086.1:c.*3766A>G | ENSP00000493677.1:n.*3766A>G | |
| ENST00000647158.1:c.*2467A>G | ENSP00000495744.1:n.*2467A>G | |
| ENST00000302539.8:c.4183A>G | ENSP00000303960.4:p.Met1395Val | |
| ENST00000389817.7:c.4180A>G | ENSP00000374467.3:p.Met1394Val | |
| ENST00000525022.1:n.46A>G | ||
| ENST00000526168.5:c.48A>G | ||
| ENST00000531642.5:c.16A>G | ||
| NM_000352.4:c.4180A>G | NP_000343.2:p.Met1394Val | |
| NM_001287174.1:c.4183A>G | NP_001274103.1:p.Met1395Val | |
| XM_011520331.1:c.4180A>G | XP_011518633.1:p.Met1394Val | |
| XM_011520332.1:c.4183A>G | XP_011518634.1:p.Met1395Val | |
| XM_011520333.1:c.2680A>G | XP_011518635.1:p.Met894Val | |
| XR_930890.1:n.4246A>G | ||
| NM_001351295.1:c.4246A>G | NP_001338224.1:p.Met1416Val | |
| NM_001351296.1:c.4180A>G | NP_001338225.1:p.Met1394Val | |
| NM_001351297.1:c.4177A>G | NP_001338226.1:p.Met1393Val | |
| NR_147094.1:n.4475A>G | ||
| XM_017018197.2:c.4249A>G | XP_016873686.1:p.Met1417Val | |
| XM_017018199.1:c.4246A>G | XP_016873688.1:p.Met1416Val | |
| XM_017018201.2:c.4249A>G | XP_016873690.1:p.Met1417Val | |
| XM_017018202.1:c.2746A>G | XP_016873691.1:p.Met916Val | |
| XM_017018204.1:c.2137A>G | XP_016873693.1:p.Met713Val | |
| XM_024448668.1:c.2548A>G | XP_024304436.1:p.Met850Val | |
| XR_001747945.2:n.4321A>G | ||
| XR_001747946.2:n.4252A>G | ||
| XR_002957189.1:n.5902A>G | ||
| NM_000352.6:c.4180A>G MANE Select | NP_000343.2:p.Met1394Val | |
| NM_001287174.2:c.4183A>G | NP_001274103.1:p.Met1395Val | |
| NM_001351295.2:c.4246A>G | NP_001338224.1:p.Met1416Val | |
| NM_001351296.2:c.4180A>G | NP_001338225.1:p.Met1394Val | |
| NM_001351297.2:c.4177A>G | NP_001338226.1:p.Met1393Val | |
| NR_147094.2:n.4475A>G | ||
| NM_001287174.3:c.4183A>G | NP_001274103.1:p.Met1395Val |