Linked Data
ClinVar Variation Id:
2575863
ClinVar RCV Id:
RCV003321429
gnomAD v4:
11-17407109-C-T
COSMIC:
COSM4541088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17407109C>T , CM000673.2:g.17407109C>T | GRCh38 |
| NC_000011.9:g.17428656C>T , CM000673.1:g.17428656C>T | GRCh37 |
| NC_000011.8:g.17385232C>T | NCBI36 |
| NG_008867.1:g.74794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2510G>A | ||
| ENST00000529967.6:n.1280G>A | ||
| ENST00000532220.2:n.673G>A | ||
| ENST00000642611.2:n.3010G>A | ||
| ENST00000645004.2:n.440G>A | ||
| ENST00000682051.1:n.2957G>A | ||
| ENST00000682110.1:n.3010G>A | ||
| ENST00000682140.1:c.2938G>A | ENSP00000507829.1:p.Glu980Lys | |
| ENST00000682185.1:n.4246G>A | ||
| ENST00000682204.1:c.*1079G>A | ENSP00000507094.1:n.*1079G>A | |
| ENST00000682215.1:n.3007G>A | ||
| ENST00000682288.1:c.*1372G>A | ENSP00000507506.1:n.*1372G>A | |
| ENST00000682442.1:n.3131G>A | ||
| ENST00000682528.1:n.3087G>A | ||
| ENST00000682673.1:n.2954G>A | ||
| ENST00000682805.1:n.3007G>A | ||
| ENST00000682965.1:c.2938G>A | ENSP00000508229.1:p.Glu980Lys | |
| ENST00000683093.1:n.3109G>A | ||
| ENST00000683136.1:c.2938G>A | ENSP00000507768.1:p.Glu980Lys | |
| ENST00000683153.1:n.3166G>A | ||
| ENST00000683365.1:n.3112G>A | ||
| ENST00000683377.1:n.3010G>A | ||
| ENST00000683456.1:c.*78G>A | ENSP00000508318.1:n.*78G>A | |
| ENST00000683522.1:n.3010G>A | ||
| ENST00000683562.1:c.*1110G>A | ENSP00000508265.1:n.*1110G>A | |
| ENST00000683693.1:n.3087G>A | ||
| ENST00000683725.1:c.2941G>A | ENSP00000507496.1:p.Glu981Lys | |
| ENST00000684010.1:n.3005G>A | ||
| ENST00000684157.1:n.3010G>A | ||
| ENST00000684253.1:n.2913G>A | ||
| ENST00000684288.1:c.*1113G>A | ENSP00000507143.1:n.*1113G>A | |
| ENST00000684313.1:n.2442G>A | ||
| ENST00000684332.1:n.3083G>A | ||
| ENST00000684371.1:n.3116G>A | ||
| ENST00000684404.1:n.3053G>A | ||
| ENST00000684442.1:n.3010G>A | ||
| ENST00000684555.1:c.*1153G>A | ENSP00000507705.1:n.*1153G>A | |
| ENST00000684571.1:c.2782G>A | ENSP00000506935.1:p.Glu928Lys | |
| ENST00000684593.1:c.*2646G>A | ENSP00000507005.1:n.*2646G>A | |
| ENST00000684711.1:c.*1337G>A | ENSP00000506841.1:n.*1337G>A | |
| ENST00000302539.9:c.2944G>A | ENSP00000303960.4:p.Glu982Lys | |
| ENST00000389817.8:c.2941G>A MANE Select | ENSP00000374467.4:p.Glu981Lys | |
| ENST00000642271.1:c.2938G>A | ENSP00000493749.1:p.Glu980Lys | |
| ENST00000642579.1:c.1025G>A | ||
| ENST00000642611.1:n.2895G>A | ||
| ENST00000642902.1:c.2756-33G>A | ||
| ENST00000643260.1:c.2941G>A | ENSP00000494450.1:p.Glu981Lys | |
| ENST00000643562.1:c.*917G>A | ENSP00000496124.1:n.*917G>A | |
| ENST00000643925.1:c.1065G>A | ||
| ENST00000644447.1:c.1297G>A | ENSP00000496282.1:p.Glu433Lys | |
| ENST00000644484.1:c.*1196G>A | ENSP00000493558.1:n.*1196G>A | |
| ENST00000644542.1:c.*2646G>A | ENSP00000495532.1:n.*2646G>A | |
| ENST00000644675.1:c.*1113G>A | ENSP00000494567.1:n.*1113G>A | |
| ENST00000644757.1:c.*1226G>A | ENSP00000495085.1:n.*1226G>A | |
| ENST00000644772.1:c.3007G>A | ENSP00000494321.1:p.Glu1003Lys | |
| ENST00000645004.1:n.80G>A | ||
| ENST00000645076.1:c.2173-33G>A | ||
| ENST00000645417.1:c.107G>A | ||
| ENST00000645744.1:c.*1205G>A | ENSP00000494564.1:n.*1205G>A | |
| ENST00000645760.1:c.3216G>A | ||
| ENST00000645884.1:c.*78G>A | ENSP00000495516.1:n.*78G>A | |
| ENST00000646003.1:c.*897G>A | ENSP00000495259.1:n.*897G>A | |
| ENST00000646207.1:c.*1408G>A | ENSP00000495025.1:n.*1408G>A | |
| ENST00000646276.1:c.*1214G>A | ENSP00000496070.1:n.*1214G>A | |
| ENST00000646592.1:c.2247G>A | ||
| ENST00000646902.1:c.2938G>A | ENSP00000494101.1:p.Glu980Lys | |
| ENST00000646993.1:c.*1337G>A | ENSP00000493720.1:n.*1337G>A | |
| ENST00000647013.1:c.2947G>A | ENSP00000496741.1:n.2947G>A | |
| ENST00000647015.1:c.2692G>A | ENSP00000495389.1:p.Glu898Lys | |
| ENST00000647086.1:c.*2671G>A | ENSP00000493677.1:n.*2671G>A | |
| ENST00000647158.1:c.*1082G>A | ENSP00000495744.1:n.*1082G>A | |
| ENST00000302539.8:c.2944G>A | ENSP00000303960.4:p.Glu982Lys | |
| ENST00000389817.7:c.2941G>A | ENSP00000374467.3:p.Glu981Lys | |
| ENST00000524561.1:n.73G>A | ||
| ENST00000526921.5:n.625G>A | ||
| ENST00000527905.5:c.2811G>A | ENSP00000431653.1:p.Arg937= | |
| ENST00000529967.5:n.610G>A | ||
| NM_000352.4:c.2941G>A | NP_000343.2:p.Glu981Lys | |
| NM_001287174.1:c.2944G>A | NP_001274103.1:p.Glu982Lys | |
| XM_011520331.1:c.2941G>A | XP_011518633.1:p.Glu981Lys | |
| XM_011520332.1:c.2944G>A | XP_011518634.1:p.Glu982Lys | |
| XM_011520333.1:c.1441G>A | XP_011518635.1:p.Glu481Lys | |
| XR_930890.1:n.3007G>A | ||
| XR_930891.1:n.3007G>A | ||
| XR_930892.1:n.2907G>A | ||
| XR_930893.1:n.2904G>A | ||
| NM_001351295.1:c.3007G>A | NP_001338224.1:p.Glu1003Lys | |
| NM_001351296.1:c.2941G>A | NP_001338225.1:p.Glu981Lys | |
| NM_001351297.1:c.2938G>A | NP_001338226.1:p.Glu980Lys | |
| NR_147094.1:n.3090G>A | ||
| XM_017018197.2:c.3010G>A | XP_016873686.1:p.Glu1004Lys | |
| XM_017018199.1:c.3007G>A | XP_016873688.1:p.Glu1003Lys | |
| XM_017018201.2:c.3010G>A | XP_016873690.1:p.Glu1004Lys | |
| XM_017018202.1:c.1507G>A | XP_016873691.1:p.Glu503Lys | |
| XM_017018204.1:c.898G>A | XP_016873693.1:p.Glu300Lys | |
| XM_024448668.1:c.1309G>A | XP_024304436.1:p.Glu437Lys | |
| XR_001747945.2:n.3082G>A | ||
| XR_001747946.2:n.3013G>A | ||
| XR_002957189.1:n.3162G>A | ||
| NM_000352.6:c.2941G>A MANE Select | NP_000343.2:p.Glu981Lys | |
| NM_001287174.2:c.2944G>A | NP_001274103.1:p.Glu982Lys | |
| NM_001351295.2:c.3007G>A | NP_001338224.1:p.Glu1003Lys | |
| NM_001351296.2:c.2941G>A | NP_001338225.1:p.Glu981Lys | |
| NM_001351297.2:c.2938G>A | NP_001338226.1:p.Glu980Lys | |
| NR_147094.2:n.3090G>A | ||
| NM_001287174.3:c.2944G>A | NP_001274103.1:p.Glu982Lys |