Linked Data
dbSNP Id:
rs778606487
ExAC:
11:17417402 C / T
gnomAD v2:
11-17417402-C-T
gnomAD v3:
11-17395855-C-T
gnomAD v4:
11-17395855-C-T
COSMIC:
COSM1181357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395855C>T , CM000673.2:g.17395855C>T | GRCh38 |
| NC_000011.9:g.17417402C>T , CM000673.1:g.17417402C>T | GRCh37 |
| NC_000011.8:g.17373978C>T | NCBI36 |
| NG_008867.1:g.86048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3796G>A | ||
| ENST00000528374.2:c.786G>A | ||
| ENST00000529967.6:n.2534G>A | ||
| ENST00000532220.2:n.3428G>A | ||
| ENST00000642611.2:n.5395G>A | ||
| ENST00000644057.2:n.638G>A | ||
| ENST00000645004.2:n.1694G>A | ||
| ENST00000682051.1:n.4357G>A | ||
| ENST00000682110.1:n.4410G>A | ||
| ENST00000682140.1:c.4061G>A | ENSP00000507829.1:p.Arg1354Gln | |
| ENST00000682185.1:n.5500G>A | ||
| ENST00000682204.1:c.*2333G>A | ENSP00000507094.1:n.*2333G>A | |
| ENST00000682215.1:n.4777G>A | ||
| ENST00000682288.1:c.*2626G>A | ENSP00000507506.1:n.*2626G>A | |
| ENST00000682442.1:n.4630G>A | ||
| ENST00000682528.1:n.4487G>A | ||
| ENST00000682673.1:n.4354G>A | ||
| ENST00000682805.1:n.4815G>A | ||
| ENST00000682965.1:c.*617G>A | ENSP00000508229.1:n.*617G>A | |
| ENST00000683093.1:n.5494G>A | ||
| ENST00000683136.1:c.4078G>A | ENSP00000507768.1:p.Glu1360Lys | |
| ENST00000683153.1:n.4452G>A | ||
| ENST00000683365.1:n.4512G>A | ||
| ENST00000683377.1:n.4410G>A | ||
| ENST00000683456.1:c.*1332G>A | ENSP00000508318.1:n.*1332G>A | |
| ENST00000683522.1:n.4410G>A | ||
| ENST00000683562.1:c.*2364G>A | ENSP00000508265.1:n.*2364G>A | |
| ENST00000683693.1:n.5842G>A | ||
| ENST00000683725.1:c.4195G>A | ENSP00000507496.1:p.Glu1399Lys | |
| ENST00000684010.1:n.4405G>A | ||
| ENST00000684157.1:n.5395G>A | ||
| ENST00000684253.1:n.4313G>A | ||
| ENST00000684288.1:c.*2367G>A | ENSP00000507143.1:n.*2367G>A | |
| ENST00000684313.1:n.3842G>A | ||
| ENST00000684332.1:n.4483G>A | ||
| ENST00000684371.1:n.4516G>A | ||
| ENST00000684404.1:n.5438G>A | ||
| ENST00000684442.1:n.4634G>A | ||
| ENST00000684555.1:c.*2407G>A | ENSP00000507705.1:n.*2407G>A | |
| ENST00000684571.1:c.4036G>A | ENSP00000506935.1:p.Glu1346Lys | |
| ENST00000684593.1:c.*3900G>A | ENSP00000507005.1:n.*3900G>A | |
| ENST00000684711.1:c.*2591G>A | ENSP00000506841.1:n.*2591G>A | |
| ENST00000302539.9:c.4198G>A | ENSP00000303960.4:p.Glu1400Lys | |
| ENST00000389817.8:c.4195G>A MANE Select | ENSP00000374467.4:p.Glu1399Lys | |
| ENST00000642271.1:c.4192G>A | ENSP00000493749.1:p.Glu1398Lys | |
| ENST00000642579.1:c.2249G>A | ||
| ENST00000642611.1:n.5280G>A | ||
| ENST00000642902.1:c.3977G>A | ||
| ENST00000643260.1:c.4195G>A | ENSP00000494450.1:p.Glu1399Lys | |
| ENST00000643562.1:c.*2317G>A | ENSP00000496124.1:n.*2317G>A | |
| ENST00000643925.1:c.2835G>A | ||
| ENST00000644057.1:n.272G>A | ||
| ENST00000644484.1:c.*3581G>A | ENSP00000493558.1:n.*3581G>A | |
| ENST00000644675.1:c.*2367G>A | ENSP00000494567.1:n.*2367G>A | |
| ENST00000644757.1:c.*3202+409G>A | ENSP00000495085.1:n.*3202+409G>A | |
| ENST00000644772.1:c.4261G>A | ENSP00000494321.1:p.Glu1421Lys | |
| ENST00000645004.1:n.1888G>A | ||
| ENST00000645076.1:c.3394G>A | ||
| ENST00000645417.1:c.1383G>A | ||
| ENST00000645744.1:c.*3960G>A | ENSP00000494564.1:n.*3960G>A | |
| ENST00000645760.1:c.4616G>A | ||
| ENST00000645884.1:c.*1478G>A | ENSP00000495516.1:n.*1478G>A | |
| ENST00000646003.1:c.*2297G>A | ENSP00000495259.1:n.*2297G>A | |
| ENST00000646207.1:c.*3032G>A | ENSP00000495025.1:n.*3032G>A | |
| ENST00000646276.1:c.*3599G>A | ENSP00000496070.1:n.*3599G>A | |
| ENST00000646592.1:c.3501G>A | ||
| ENST00000646902.1:c.4162G>A | ENSP00000494101.1:p.Glu1388Lys | |
| ENST00000646993.1:c.*2737G>A | ENSP00000493720.1:n.*2737G>A | |
| ENST00000647013.1:c.4201G>A | ENSP00000496741.1:n.4201G>A | |
| ENST00000647015.1:c.3946G>A | ENSP00000495389.1:p.Glu1316Lys | |
| ENST00000647086.1:c.*3781G>A | ENSP00000493677.1:n.*3781G>A | |
| ENST00000647158.1:c.*2482G>A | ENSP00000495744.1:n.*2482G>A | |
| ENST00000302539.8:c.4198G>A | ENSP00000303960.4:p.Glu1400Lys | |
| ENST00000389817.7:c.4195G>A | ENSP00000374467.3:p.Glu1399Lys | |
| ENST00000525022.1:n.61G>A | ||
| ENST00000526168.5:c.63G>A | ||
| ENST00000531642.5:c.31G>A | ||
| NM_000352.4:c.4195G>A | NP_000343.2:p.Glu1399Lys | |
| NM_001287174.1:c.4198G>A | NP_001274103.1:p.Glu1400Lys | |
| XM_011520331.1:c.4195G>A | XP_011518633.1:p.Glu1399Lys | |
| XM_011520332.1:c.4198G>A | XP_011518634.1:p.Glu1400Lys | |
| XM_011520333.1:c.2695G>A | XP_011518635.1:p.Glu899Lys | |
| XR_930890.1:n.4261G>A | ||
| NM_001351295.1:c.4261G>A | NP_001338224.1:p.Glu1421Lys | |
| NM_001351296.1:c.4195G>A | NP_001338225.1:p.Glu1399Lys | |
| NM_001351297.1:c.4192G>A | NP_001338226.1:p.Glu1398Lys | |
| NR_147094.1:n.4490G>A | ||
| XM_017018197.2:c.4264G>A | XP_016873686.1:p.Glu1422Lys | |
| XM_017018199.1:c.4261G>A | XP_016873688.1:p.Glu1421Lys | |
| XM_017018201.2:c.4264G>A | XP_016873690.1:p.Glu1422Lys | |
| XM_017018202.1:c.2761G>A | XP_016873691.1:p.Glu921Lys | |
| XM_017018204.1:c.2152G>A | XP_016873693.1:p.Glu718Lys | |
| XM_024448668.1:c.2563G>A | XP_024304436.1:p.Glu855Lys | |
| XR_001747945.2:n.4336G>A | ||
| XR_001747946.2:n.4267G>A | ||
| XR_002957189.1:n.5917G>A | ||
| NM_000352.6:c.4195G>A MANE Select | NP_000343.2:p.Glu1399Lys | |
| NM_001287174.2:c.4198G>A | NP_001274103.1:p.Glu1400Lys | |
| NM_001351295.2:c.4261G>A | NP_001338224.1:p.Glu1421Lys | |
| NM_001351296.2:c.4195G>A | NP_001338225.1:p.Glu1399Lys | |
| NM_001351297.2:c.4192G>A | NP_001338226.1:p.Glu1398Lys | |
| NR_147094.2:n.4490G>A | ||
| NM_001287174.3:c.4198G>A | NP_001274103.1:p.Glu1400Lys |