{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253149", "communityStandardTitle": [ "NM_001195248.2(APTX):c.602A>G (p.His201Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19468[alleleid]", "alleleId": 19468, "preferredName": "NM_001195248.2(APTX):c.602A>G (p.His201Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4429", "RCV": [ "RCV000004679" ], "variationId": 4429 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.32984797T>C?assembly=hg19", "id": "chr9:g.32984797T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.32984799T>C?assembly=hg38", "id": "chr9:g.32984799T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908133", "rs": 121908133 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-32984799-T-C?dataset=gnomad_r3", "id": "9-32984799-T-C", "variant": "9:32984799 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-32984799-T-C?dataset=gnomad_r4", "id": "9-32984799-T-C", "variant": "9:32984799 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 32984799, "referenceAllele": "T", "start": 32984798 } ], "hgvs": [ "NC_000009.12:g.32984799T>C", "CM000671.2:g.32984799T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 32984797, "referenceAllele": "T", "start": 32984796 } ], "hgvs": [ "NC_000009.11:g.32984797T>C", "CM000671.1:g.32984797T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 32974797, "referenceAllele": "T", "start": 32974796 } ], "hgvs": [ "NC_000009.10:g.32974797T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 21830, "referenceAllele": "A", "start": 21829 } ], "hgvs": [ "NG_012821.1:g.21830A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002554" }, { "coordinates": [ { "allele": "G", "end": 45333, "referenceAllele": "A", "start": 45332 } ], "hgvs": [ "NG_012821.2:g.45333A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706112" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 524, "referenceAllele": "A", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000309615.8:c.440A>G" ], "proteinEffect": { "hgvs": "ENSP00000311547.4:p.His147Arg", "hgvsWellDefined": "ENSP00000311547.4:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS745558" }, { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379817.7:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000369145.2:p.His201Arg", "hgvsWellDefined": "ENSP00000369145.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS752285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379817.7:c.602A>G" }, "RefSeq": { "hgvs": "NM_001195248.2:c.602A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369145.2:p.His201Arg" }, "RefSeq": { "hgvs": "NP_001182177.2:p.His201Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 766, "referenceAllele": "A", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379819.6:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000369147.2:p.His201Arg", "hgvsWellDefined": "ENSP00000369147.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS752287" }, { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379825.7:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000369153.3:p.His201Arg", "hgvsWellDefined": "ENSP00000369153.3:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS752288" }, { "coordinates": [ { "allele": "G", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000397172.8:c.386A>G" ], "proteinEffect": { "hgvs": "ENSP00000380357.4:p.His129Arg", "hgvsWellDefined": "ENSP00000380357.4:p.His129Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS753615" }, { "coordinates": [ { "allele": "G", "end": 540, "referenceAllele": "A", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000436040.7:c.440A>G" ], "proteinEffect": { "hgvs": "ENSP00000400806.4:p.His147Arg", "hgvsWellDefined": "ENSP00000400806.4:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS755594" }, { "coordinates": [ { "allele": "G", "end": 645, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 645, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000460940.6:c.*388+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000418311.1:n.*388+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756700" }, { "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "A", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000463596.6:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000419846.1:p.His201Arg", "hgvsWellDefined": "ENSP00000419846.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756774" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000464632.6:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000418069.2:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756806" }, { "coordinates": [ { "allele": "G", "end": 609, "referenceAllele": "A", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000465003.6:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000419430.2:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756820" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "A", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000467331.6:c.*447A>G" ], "proteinEffect": { "hgvs": "ENSP00000418733.1:n.*447A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756899" }, { "coordinates": [ { "allele": "G", "end": 673, "referenceAllele": "A", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000468275.6:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000420263.2:p.His201Arg", "hgvsWellDefined": "ENSP00000420263.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756925" }, { "coordinates": [ { "allele": "G", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000472896.6:c.*396A>G" ], "proteinEffect": { "hgvs": "ENSP00000417804.2:n.*396A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757080" }, { "coordinates": [ { "allele": "G", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000474658.7:c.*45A>G" ], "proteinEffect": { "hgvs": "ENSP00000417750.3:n.*45A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757125" }, { "coordinates": [ { "allele": "G", "end": 519, "referenceAllele": "A", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000476858.6:c.440A>G" ], "proteinEffect": { "hgvs": "ENSP00000419042.2:p.His147Arg", "hgvsWellDefined": "ENSP00000419042.2:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS757207" }, { "coordinates": [ { "allele": "G", "end": 551, "referenceAllele": "A", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000477119.2:c.485A>G" ], "proteinEffect": { "hgvs": "ENSP00000417649.2:p.His162Arg", "hgvsWellDefined": "ENSP00000417649.2:p.His162Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS757216" }, { "coordinates": [ { "allele": "G", "end": 544, "referenceAllele": "A", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000478279.6:c.*229A>G" ], "proteinEffect": { "hgvs": "ENSP00000419597.2:n.*229A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757259" }, { "coordinates": [ { "allele": "G", "end": 754, "referenceAllele": "A", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000479656.6:c.*447A>G" ], "proteinEffect": { "hgvs": "ENSP00000420071.1:n.*447A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757310" }, { "coordinates": [ { "allele": "G", "end": 588, "referenceAllele": "A", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000480031.6:c.*396A>G" ], "proteinEffect": { "hgvs": "ENSP00000417684.1:n.*396A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757321" }, { "coordinates": [ { "allele": "G", "end": 714, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 714, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000482687.6:c.*388+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000419289.2:n.*388+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757416" }, { "coordinates": [ { "allele": "G", "end": 746, "referenceAllele": "A", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000483148.6:c.*229A>G" ], "proteinEffect": { "hgvs": "ENSP00000419723.1:n.*229A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757431" }, { "coordinates": [ { "allele": "G", "end": 543, "referenceAllele": "A", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000485479.6:c.*323A>G" ], "proteinEffect": { "hgvs": "ENSP00000418144.1:n.*323A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757507" }, { "coordinates": [ { "allele": "G", "end": 635, "referenceAllele": "A", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000495360.6:c.*345A>G" ], "proteinEffect": { "hgvs": "ENSP00000419623.2:n.*345A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757802" }, { "coordinates": [ { "allele": "G", "end": 200, "referenceAllele": "A", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000671774.1:n.200A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773167" }, { "coordinates": [ { "allele": "G", "end": 439, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 439, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000671912.1:c.279+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000500871.1:n.279+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773209" }, { "coordinates": [ { "allele": "G", "end": 740, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 740, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672152.1:n.740+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773291" }, { "coordinates": [ { "allele": "G", "end": 421, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 421, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672244.1:c.381+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000499875.1:n.381+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773316" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672281.1:n.799A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773330" }, { "coordinates": [ { "allele": "G", "end": 863, "referenceAllele": "A", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672286.1:n.863A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773334" }, { "coordinates": [ { "allele": "G", "end": 531, "referenceAllele": "A", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672438.1:c.338A>G" ], "proteinEffect": { "hgvs": "ENSP00000499997.1:p.His113Arg", "hgvsWellDefined": "ENSP00000499997.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773385" }, { "coordinates": [ { "allele": "G", "end": 794, "referenceAllele": "A", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672476.1:n.794A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773394" }, { "coordinates": [ { "allele": "G", "end": 1141, "referenceAllele": "A", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672493.1:n.1141A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773399" }, { "coordinates": [ { "allele": "G", "end": 640, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 640, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672519.1:c.*388+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000500320.1:n.*388+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773406" }, { "coordinates": [ { "allele": "G", "end": 507, "referenceAllele": "A", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672535.1:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000499872.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773408" }, { "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "A", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672615.1:n.679A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773435" }, { "coordinates": [ { "allele": "G", "end": 528, "referenceAllele": "A", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000672846.1:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000500396.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773511" }, { "coordinates": [ { "allele": "G", "end": 466, "referenceAllele": "A", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673114.1:n.466A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773591" }, { "coordinates": [ { "allele": "G", "end": 620, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 620, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673171.1:n.620+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773603" }, { "coordinates": [ { "allele": "G", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673211.1:n.684A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773615" }, { "coordinates": [ { "allele": "G", "end": 726, "referenceAllele": "A", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673248.1:c.338A>G" ], "proteinEffect": { "hgvs": "ENSP00000500601.1:p.His113Arg", "hgvsWellDefined": "ENSP00000500601.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773633" }, { "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673333.1:n.880A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773652" }, { "coordinates": [ { "allele": "G", "end": 515, "referenceAllele": "A", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673360.1:c.*45A>G" ], "proteinEffect": { "hgvs": "ENSP00000500360.1:n.*45A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773658" }, { "coordinates": [ { "allele": "G", "end": 728, "referenceAllele": "A", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673416.1:c.338A>G" ], "proteinEffect": { "hgvs": "ENSP00000500738.1:p.His113Arg", "hgvsWellDefined": "ENSP00000500738.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773672" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673485.1:n.799A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773700" }, { "coordinates": [ { "allele": "G", "end": 813, "referenceAllele": "A", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673487.1:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000500943.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773701" }, { "coordinates": [ { "allele": "G", "end": 130, "referenceAllele": "A", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000673598.1:c.80A>G" ], "proteinEffect": { "hgvs": "ENSP00000499991.1:p.His27Arg", "hgvsWellDefined": "ENSP00000499991.1:p.His27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773730" }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "A", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000309615.7:c.440A>G" ], "proteinEffect": { "hgvs": "ENSP00000311547.4:p.His147Arg", "hgvsWellDefined": "ENSP00000311547.4:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS256233" }, { "coordinates": [ { "allele": "G", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379812.9:c.428A>G" ], "proteinEffect": { "hgvs": "ENSP00000369140.5:p.His143Arg", "hgvsWellDefined": "ENSP00000369140.5:p.His143Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272654" }, { "coordinates": [ { "allele": "G", "end": 592, "referenceAllele": "A", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379813.7:c.584A>G" ], "proteinEffect": { "hgvs": "ENSP00000369141.4:p.His195Arg", "hgvsWellDefined": "ENSP00000369141.4:p.His195Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272655" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379817.6:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000369145.2:p.His201Arg", "hgvsWellDefined": "ENSP00000369145.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272657" }, { "coordinates": [ { "allele": "G", "end": 644, "referenceAllele": "A", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379819.5:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000369147.1:p.His215Arg", "hgvsWellDefined": "ENSP00000369147.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272659" }, { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000379825.6:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000369153.2:p.His215Arg", "hgvsWellDefined": "ENSP00000369153.2:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272661" }, { "coordinates": [ { "allele": "G", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000397172.7:c.428A>G" ], "proteinEffect": { "hgvs": "ENSP00000380357.3:p.His143Arg", "hgvsWellDefined": "ENSP00000380357.3:p.His143Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS277661" }, { "coordinates": [ { "allele": "G", "end": 850, "referenceAllele": "A", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000436040.6:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000400806.3:p.His201Arg", "hgvsWellDefined": "ENSP00000400806.3:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS293787" }, { "coordinates": [ { "allele": "G", "end": 735, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 735, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000460940.5:c.*388+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000418311.1:n.*388+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS305574" }, { "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "A", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000463596.5:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000419846.1:p.His201Arg", "hgvsWellDefined": "ENSP00000419846.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS307597" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000464632.5:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000418069.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS308416" }, { "coordinates": [ { "allele": "G", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000465003.5:c.*229A>G" ], "proteinEffect": { "hgvs": "ENSP00000419430.1:n.*229A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS308697" }, { "coordinates": [ { "allele": "G", "end": 794, "referenceAllele": "A", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000467331.5:c.*447A>G" ], "proteinEffect": { "hgvs": "ENSP00000418733.1:n.*447A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS310490" }, { "coordinates": [ { "allele": "G", "end": 695, "referenceAllele": "A", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000468275.5:c.602A>G" ], "proteinEffect": { "hgvs": "ENSP00000420263.1:p.His201Arg", "hgvsWellDefined": "ENSP00000420263.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS311225" }, { "coordinates": [ { "allele": "G", "end": 620, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 620, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000472896.5:c.*273+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000417804.1:n.*273+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS314767" }, { "coordinates": [ { "allele": "G", "end": 519, "referenceAllele": "A", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000473221.5:c.482A>G" ], "proteinEffect": { "hgvs": "ENSP00000419020.1:p.His161Arg", "hgvsWellDefined": "ENSP00000419020.1:p.His161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS315024" }, { "coordinates": [ { "allele": "G", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000474658.6:c.269A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS316120" }, { "coordinates": [ { "allele": "G", "end": 519, "referenceAllele": "A", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000476858.5:c.482A>G" ], "proteinEffect": { "hgvs": "ENSP00000419042.1:p.His161Arg", "hgvsWellDefined": "ENSP00000419042.1:p.His161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS317807" }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "A", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000477119.1:c.440A>G" ], "proteinEffect": { "hgvs": "ENSP00000417649.1:p.His147Arg", "hgvsWellDefined": "ENSP00000417649.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS318011" }, { "coordinates": [ { "allele": "G", "end": 544, "referenceAllele": "A", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000478279.5:c.*229A>G" ], "proteinEffect": { "hgvs": "ENSP00000419597.1:n.*229A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS318923" }, { "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000479656.5:c.*447A>G" ], "proteinEffect": { "hgvs": "ENSP00000420071.1:n.*447A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS319980" }, { "coordinates": [ { "allele": "G", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000480031.5:c.*396A>G" ], "proteinEffect": { "hgvs": "ENSP00000417684.1:n.*396A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS320279" }, { "coordinates": [ { "allele": "G", "end": 740, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 740, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000482687.5:c.543+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000419289.1:n.543+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS322322" }, { "coordinates": [ { "allele": "G", "end": 625, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 625, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000483148.5:c.*170+1172A>G" ], "proteinEffect": { "hgvs": "ENSP00000419723.1:n.*170+1172A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS322686" }, { "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "A", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000485479.5:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000418144.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS324495" }, { "coordinates": [ { "allele": "G", "end": 338, "referenceAllele": "A", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000486724.5:n.338A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325464" }, { "coordinates": [ { "allele": "G", "end": 790, "referenceAllele": "A", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000494649.5:c.*447A>G" ], "proteinEffect": { "hgvs": "ENSP00000417634.1:n.*447A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS331527" }, { "coordinates": [ { "allele": "G", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "ENST00000495360.5:c.*332A>G" ], "proteinEffect": { "hgvs": "ENSP00000419623.1:n.*332A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS332074" }, { "@id": "http://reg.genome.network/allele/PA110610", "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195248.1:c.644A>G" ], "proteinEffect": { "hgvs": "NP_001182177.1:p.His215Arg", "hgvsWellDefined": "NP_001182177.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016564" }, { "@id": "http://reg.genome.network/allele/PA2826199955", "coordinates": [ { "allele": "G", "end": 850, "referenceAllele": "A", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195249.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001182178.1:p.His201Arg", "hgvsWellDefined": "NP_001182178.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016565" }, { "coordinates": [ { "allele": "G", "end": 519, "referenceAllele": "A", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195250.1:c.482A>G" ], "proteinEffect": { "hgvs": "NP_001182179.1:p.His161Arg", "hgvsWellDefined": "NP_001182179.1:p.His161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016566" }, { "@id": "http://reg.genome.network/allele/PA2826200195", "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195251.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001182180.1:p.His201Arg", "hgvsWellDefined": "NP_001182180.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016567" }, { "coordinates": [ { "allele": "G", "end": 465, "referenceAllele": "A", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195252.1:c.428A>G" ], "proteinEffect": { "hgvs": "NP_001182181.1:p.His143Arg", "hgvsWellDefined": "NP_001182181.1:p.His143Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016568" }, { "@id": "http://reg.genome.network/allele/PA2826200394", "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "A", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195254.1:c.440A>G" ], "proteinEffect": { "hgvs": "NP_001182183.1:p.His147Arg", "hgvsWellDefined": "NP_001182183.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016569" }, { "@id": "http://reg.genome.network/allele/PA253151", "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_175069.2:c.644A>G" ], "proteinEffect": { "hgvs": "NP_778239.1:p.His215Arg", "hgvsWellDefined": "NP_778239.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS043162" }, { "@id": "http://reg.genome.network/allele/PA253150", "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_175073.2:c.602A>G" ], "proteinEffect": { "hgvs": "NP_778243.1:p.His201Arg", "hgvsWellDefined": "NP_778243.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS043163" }, { "coordinates": [ { "allele": "G", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036576.1:n.676A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS049798" }, { "coordinates": [ { "allele": "G", "end": 566, "referenceAllele": "A", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036577.1:n.566A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS049799" }, { "coordinates": [ { "allele": "G", "end": 698, "referenceAllele": "A", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036578.1:n.698A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS049800" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "A", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036579.1:n.845A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS049801" }, { "coordinates": [ { "allele": "G", "end": 689, "referenceAllele": "A", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_006716791.2:c.602A>G" ], "proteinEffect": { "hgvs": "XP_006716854.1:p.His201Arg", "hgvsWellDefined": "XP_006716854.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071843" }, { "coordinates": [ { "allele": "G", "end": 707, "referenceAllele": "A", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_006716792.2:c.338A>G" ], "proteinEffect": { "hgvs": "XP_006716855.1:p.His113Arg", "hgvsWellDefined": "XP_006716855.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071844" }, { "coordinates": [ { "allele": "G", "end": 689, "referenceAllele": "A", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517936.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516238.1:p.His113Arg", "hgvsWellDefined": "XP_011516238.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085118" }, { "coordinates": [ { "allele": "G", "end": 698, "referenceAllele": "A", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517937.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516239.1:p.His113Arg", "hgvsWellDefined": "XP_011516239.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085119" }, { "coordinates": [ { "allele": "G", "end": 665, "referenceAllele": "A", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517938.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516240.1:p.His113Arg", "hgvsWellDefined": "XP_011516240.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085120" }, { "coordinates": [ { "allele": "G", "end": 634, "referenceAllele": "A", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517939.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516241.1:p.His113Arg", "hgvsWellDefined": "XP_011516241.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085121" }, { "coordinates": [ { "allele": "G", "end": 622, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 622, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_428423.2:n.622+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118052" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_929276.1:n.681A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS125487" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_929277.1:n.681A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS125488" }, { "coordinates": [ { "allele": "G", "end": 622, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 622, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_929279.1:n.622+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS125489" }, { "coordinates": [ { "allele": "G", "end": 689, "referenceAllele": "A", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_006716791.4:c.602A>G" ], "proteinEffect": { "hgvs": "XP_006716854.1:p.His201Arg", "hgvsWellDefined": "XP_006716854.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539251" }, { "coordinates": [ { "allele": "G", "end": 702, "referenceAllele": "A", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_006716792.3:c.338A>G" ], "proteinEffect": { "hgvs": "XP_006716855.1:p.His113Arg", "hgvsWellDefined": "XP_006716855.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539252" }, { "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "A", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517938.2:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516240.1:p.His113Arg", "hgvsWellDefined": "XP_011516240.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544725" }, { "coordinates": [ { "allele": "G", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_011517939.3:c.338A>G" ], "proteinEffect": { "hgvs": "XP_011516241.1:p.His113Arg", "hgvsWellDefined": "XP_011516241.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544726" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014831.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_016870320.1:p.His215Arg", "hgvsWellDefined": "XP_016870320.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567693" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014832.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_016870321.1:p.His215Arg", "hgvsWellDefined": "XP_016870321.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567694" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014833.2:c.644A>G" ], "proteinEffect": { "hgvs": "XP_016870322.1:p.His215Arg", "hgvsWellDefined": "XP_016870322.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567695" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014836.2:c.644A>G" ], "proteinEffect": { "hgvs": "XP_016870325.1:p.His215Arg", "hgvsWellDefined": "XP_016870325.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567696" }, { "coordinates": [ { "allele": "G", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014837.2:c.440A>G" ], "proteinEffect": { "hgvs": "XP_016870326.1:p.His147Arg", "hgvsWellDefined": "XP_016870326.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567697" }, { "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_017014838.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_016870327.1:p.His113Arg", "hgvsWellDefined": "XP_016870327.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567698" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447575.1:c.602A>G" ], "proteinEffect": { "hgvs": "XP_024303343.1:p.His201Arg", "hgvsWellDefined": "XP_024303343.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581156" }, { "coordinates": [ { "allele": "G", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447576.1:c.602A>G" ], "proteinEffect": { "hgvs": "XP_024303344.1:p.His201Arg", "hgvsWellDefined": "XP_024303344.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581157" }, { "coordinates": [ { "allele": "G", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447577.1:c.602A>G" ], "proteinEffect": { "hgvs": "XP_024303345.1:p.His201Arg", "hgvsWellDefined": "XP_024303345.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581158" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447578.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_024303346.1:p.His215Arg", "hgvsWellDefined": "XP_024303346.1:p.His215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581159" }, { "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447579.1:c.602A>G" ], "proteinEffect": { "hgvs": "XP_024303347.1:p.His201Arg", "hgvsWellDefined": "XP_024303347.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581160" }, { "coordinates": [ { "allele": "G", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447580.1:c.440A>G" ], "proteinEffect": { "hgvs": "XP_024303348.1:p.His147Arg", "hgvsWellDefined": "XP_024303348.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581161" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447581.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_024303349.1:p.His113Arg", "hgvsWellDefined": "XP_024303349.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581162" }, { "coordinates": [ { "allele": "G", "end": 723, "referenceAllele": "A", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447582.1:c.338A>G" ], "proteinEffect": { "hgvs": "XP_024303350.1:p.His113Arg", "hgvsWellDefined": "XP_024303350.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS581163" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_001746325.2:n.681A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594665" }, { "coordinates": [ { "allele": "G", "end": 689, "referenceAllele": "A", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_001746326.2:n.689A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594666" }, { "coordinates": [ { "allele": "G", "end": 622, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 622, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_428423.3:n.622+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS606552" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_929276.3:n.681A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS609141" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XR_929277.3:n.681A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS609142" }, { "@id": "http://reg.genome.network/allele/PA2826199829", "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195248.2:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001182177.2:p.His201Arg", "hgvsWellDefined": "NP_001182177.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679293", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379817.7:c.602A>G" }, "RefSeq": { "hgvs": "NM_001195248.2:c.602A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369145.2:p.His201Arg" }, "RefSeq": { "hgvs": "NP_001182177.2:p.His201Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826200069", "coordinates": [ { "allele": "G", "end": 506, "referenceAllele": "A", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195250.2:c.440A>G" ], "proteinEffect": { "hgvs": "NP_001182179.2:p.His147Arg", "hgvsWellDefined": "NP_001182179.2:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679294" }, { "@id": "http://reg.genome.network/allele/PA2826200279", "coordinates": [ { "allele": "G", "end": 452, "referenceAllele": "A", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195252.2:c.386A>G" ], "proteinEffect": { "hgvs": "NP_001182181.2:p.His129Arg", "hgvsWellDefined": "NP_001182181.2:p.His129Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679295" }, { "@id": "http://reg.genome.network/allele/PA2828304302", "coordinates": [ { "allele": "G", "end": 727, "referenceAllele": "A", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001368995.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001355924.1:p.His201Arg", "hgvsWellDefined": "NP_001355924.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691496" }, { "@id": "http://reg.genome.network/allele/PA2828304428", "coordinates": [ { "allele": "G", "end": 704, "referenceAllele": "A", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001368996.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001355925.1:p.His201Arg", "hgvsWellDefined": "NP_001355925.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691497" }, { "@id": "http://reg.genome.network/allele/PA2828304554", "coordinates": [ { "allele": "G", "end": 923, "referenceAllele": "A", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001368997.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001355926.1:p.His201Arg", "hgvsWellDefined": "NP_001355926.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691498" }, { "@id": "http://reg.genome.network/allele/PA2828304680", "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001368998.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001355927.1:p.His201Arg", "hgvsWellDefined": "NP_001355927.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691499" }, { "@id": "http://reg.genome.network/allele/PA2828304806", "coordinates": [ { "allele": "G", "end": 923, "referenceAllele": "A", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001368999.1:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001355928.1:p.His201Arg", "hgvsWellDefined": "NP_001355928.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691500" }, { "@id": "http://reg.genome.network/allele/PA2828304904", "coordinates": [ { "allele": "G", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369000.1:c.440A>G" ], "proteinEffect": { "hgvs": "NP_001355929.1:p.His147Arg", "hgvsWellDefined": "NP_001355929.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691501" }, { "@id": "http://reg.genome.network/allele/PA2828305005", "coordinates": [ { "allele": "G", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369001.1:c.440A>G" ], "proteinEffect": { "hgvs": "NP_001355930.1:p.His147Arg", "hgvsWellDefined": "NP_001355930.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691502" }, { "@id": "http://reg.genome.network/allele/PA2828305097", "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "A", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369002.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001355931.1:p.His113Arg", "hgvsWellDefined": "NP_001355931.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691503" }, { "@id": "http://reg.genome.network/allele/PA2828305189", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369003.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001355932.1:p.His113Arg", "hgvsWellDefined": "NP_001355932.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691504" }, { "@id": "http://reg.genome.network/allele/PA2828305281", "coordinates": [ { "allele": "G", "end": 621, "referenceAllele": "A", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369004.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001355933.1:p.His113Arg", "hgvsWellDefined": "NP_001355933.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691505" }, { "@id": "http://reg.genome.network/allele/PA2828305373", "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369005.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001355934.1:p.His113Arg", "hgvsWellDefined": "NP_001355934.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691506" }, { "@id": "http://reg.genome.network/allele/PA2828305465", "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001369006.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001355935.1:p.His113Arg", "hgvsWellDefined": "NP_001355935.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS691507" }, { "@id": "http://reg.genome.network/allele/PA2828446540", "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001370669.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001357598.1:p.His113Arg", "hgvsWellDefined": "NP_001357598.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS692583" }, { "@id": "http://reg.genome.network/allele/PA2828446700", "coordinates": [ { "allele": "G", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001370670.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001357599.1:p.His113Arg", "hgvsWellDefined": "NP_001357599.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS692584" }, { "@id": "http://reg.genome.network/allele/PA2828446923", "coordinates": [ { "allele": "G", "end": 897, "referenceAllele": "A", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001370673.1:c.338A>G" ], "proteinEffect": { "hgvs": "NP_001357602.1:p.His113Arg", "hgvsWellDefined": "NP_001357602.1:p.His113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS692585" }, { "@id": "http://reg.genome.network/allele/PA2830379737", "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_175069.3:c.602A>G" ], "proteinEffect": { "hgvs": "NP_778239.2:p.His201Arg", "hgvsWellDefined": "NP_778239.2:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS700713" }, { "coordinates": [ { "allele": "G", "end": 609, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 609, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160920.1:n.609+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705226" }, { "coordinates": [ { "allele": "G", "end": 572, "referenceAllele": "A", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160921.1:n.572A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705227" }, { "coordinates": [ { "allele": "G", "end": 803, "referenceAllele": "A", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160922.1:n.803A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705228" }, { "coordinates": [ { "allele": "G", "end": 607, "referenceAllele": "A", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160923.1:n.607A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705229" }, { "coordinates": [ { "allele": "G", "end": 612, "referenceAllele": "A", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160924.1:n.612A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705230" }, { "coordinates": [ { "allele": "G", "end": 808, "referenceAllele": "A", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160925.1:n.808A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705231" }, { "coordinates": [ { "allele": "G", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160926.1:n.598A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705232" }, { "coordinates": [ { "allele": "G", "end": 859, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 859, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160927.1:n.859+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705233" }, { "coordinates": [ { "allele": "G", "end": 749, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 749, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160928.1:n.749+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705234" }, { "coordinates": [ { "allele": "G", "end": 663, "endIntronDirection": "+", "endIntronOffset": 1172, "referenceAllele": "A", "start": 663, "startIntronDirection": "+", "startIntronOffset": 1171 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160929.1:n.663+1172A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705235" }, { "coordinates": [ { "allele": "G", "end": 548, "referenceAllele": "A", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160930.1:n.548A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705236" }, { "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_160931.1:n.787A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705237" }, { "@id": "http://reg.genome.network/allele/PA2826199955", "coordinates": [ { "allele": "G", "end": 902, "referenceAllele": "A", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195249.2:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001182178.1:p.His201Arg", "hgvsWellDefined": "NP_001182178.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713796" }, { "@id": "http://reg.genome.network/allele/PA2826200195", "coordinates": [ { "allele": "G", "end": 774, "referenceAllele": "A", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195251.2:c.602A>G" ], "proteinEffect": { "hgvs": "NP_001182180.1:p.His201Arg", "hgvsWellDefined": "NP_001182180.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713797" }, { "@id": "http://reg.genome.network/allele/PA2826200394", "coordinates": [ { "allele": "G", "end": 557, "referenceAllele": "A", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_001195254.2:c.440A>G" ], "proteinEffect": { "hgvs": "NP_001182183.1:p.His147Arg", "hgvsWellDefined": "NP_001182183.1:p.His147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713798" }, { "@id": "http://reg.genome.network/allele/PA253150", "coordinates": [ { "allele": "G", "end": 774, "referenceAllele": "A", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NM_175073.3:c.602A>G" ], "proteinEffect": { "hgvs": "NP_778243.1:p.His201Arg", "hgvsWellDefined": "NP_778243.1:p.His201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS729616" }, { "coordinates": [ { "allele": "G", "end": 553, "referenceAllele": "A", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036577.2:n.553A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730341" } ], "type": "nucleotide" }