{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5903032", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1078007[alleleid]", "alleleId": 1078007, "preferredName": "NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1086257", "RCV": [ "RCV001403954" ], "variationId": 1086257 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-17430008-C-T", "id": "11-17430008-C-T", "variant": "11:17430008 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17430008C>T?assembly=hg19", "id": "chr11:g.17430008C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17408461C>T?assembly=hg38", "id": "chr11:g.17408461C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769982482", "rs": 769982482 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17430008-C-T?dataset=gnomad_r2_1", "id": "11-17430008-C-T", "variant": "11:17430008 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17408461-C-T?dataset=gnomad_r3", "id": "11-17408461-C-T", "variant": "11:17408461 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17408461-C-T?dataset=gnomad_r4", "id": "11-17408461-C-T", "variant": "11:17408461 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17408461, "referenceAllele": "C", "start": 17408460 } ], "hgvs": [ "NC_000011.10:g.17408461C>T", "CM000673.2:g.17408461C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17430008, "referenceAllele": "C", "start": 17430007 } ], "hgvs": [ "NC_000011.9:g.17430008C>T", "CM000673.1:g.17430008C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17386584, "referenceAllele": "C", "start": 17386583 } ], "hgvs": [ "NC_000011.8:g.17386584C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 73442, "referenceAllele": "G", "start": 73441 } ], "hgvs": [ "NG_008867.1:g.73442G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.2420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.6:n.1010G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825780" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532220.2:n.483G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825814" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "A", "end": 2767, "referenceAllele": "G", "start": 2766 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.2767G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.2748G>A" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "A", "end": 4056, "referenceAllele": "G", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682185.1:n.4056G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827182" }, { "coordinates": [ { "allele": "A", "end": 2671, "referenceAllele": "G", "start": 2670 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.*889G>A" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:n.*889G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "A", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.*1182G>A" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:n.*1182G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "A", "end": 2941, "referenceAllele": "G", "start": 2940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.2941G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "A", "end": 2764, "referenceAllele": "G", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.2764G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.2748G>A" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "A", "end": 2919, "referenceAllele": "G", "start": 2918 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.2919G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "A", "end": 2844, "referenceAllele": "G", "start": 2843 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.2748G>A" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "A", "end": 2976, "referenceAllele": "G", "start": 2975 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.2976G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "A", "end": 2922, "referenceAllele": "G", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.2922G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "A", "end": 2829, "referenceAllele": "G", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "A", "end": 2898, "referenceAllele": "G", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.*920G>A" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:n.*920G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "A", "end": 2776, "referenceAllele": "G", "start": 2775 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "A", "end": 2735, "referenceAllele": "G", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.2735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "A", "end": 2723, "referenceAllele": "G", "start": 2722 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.2723G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "A", "end": 2862, "referenceAllele": "G", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.*923G>A" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:n.*923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "A", "end": 2252, "referenceAllele": "G", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.2252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "A", "end": 2893, "referenceAllele": "G", "start": 2892 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.2893G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "G", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.2926G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "A", "end": 2708, "referenceAllele": "G", "start": 2707 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.*963G>A" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:n.*963G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "A", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.2592G>A" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Gln864=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "A", "end": 2685, "referenceAllele": "G", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*2456G>A" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*2456G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "A", "end": 2890, "referenceAllele": "G", "start": 2889 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*1147G>A" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*1147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.2754G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2751G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.2751G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Gln917=" }, "RefSeq": { "hgvs": "NP_000343.2:p.Gln917=" } } } }, { "coordinates": [ { "allele": "A", "end": 2783, "referenceAllele": "G", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.2748G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642579.1:c.835G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766821" }, { "coordinates": [ { "allele": "A", "end": 2705, "referenceAllele": "G", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.2705G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "G", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.2586G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 2811, "referenceAllele": "G", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*727G>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*727G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643925.1:c.795G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767546" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.1107G>A" ], "proteinEffect": { "hgvs": "ENSP00000496282.1:p.Gln369=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767818" }, { "coordinates": [ { "allele": "A", "end": 2553, "referenceAllele": "G", "start": 2552 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.*1112G>A" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:n.*1112G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "A", "end": 2703, "referenceAllele": "G", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.*960G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 2674, "referenceAllele": "G", "start": 2673 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*2456G>A" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*2456G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "A", "end": 2879, "referenceAllele": "G", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.*923G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*1056G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*1056G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 2848, "referenceAllele": "G", "start": 2847 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.2817G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Gln939=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.2003G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "A", "end": 2199, "referenceAllele": "G", "start": 2198 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*1115G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*1115G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 3026, "referenceAllele": "G", "start": 3025 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.3026G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "G", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 2589, "referenceAllele": "G", "start": 2588 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*807G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*807G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 2596, "referenceAllele": "G", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*1115G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*1115G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*1024G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*1024G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 1977, "referenceAllele": "G", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.1977G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "A", "end": 2816, "referenceAllele": "G", "start": 2815 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.2748G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "G", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*1147G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*1147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 2757, "referenceAllele": "G", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.2757G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.2757G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.2502G>A" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Gln834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 4626, "referenceAllele": "G", "start": 4625 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*2481G>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*2481G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 2701, "referenceAllele": "G", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*892G>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*892G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.2754G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.2751G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526921.5:n.435G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352714" }, { "coordinates": [ { "allele": "A", "end": 2764, "referenceAllele": "G", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2721G>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Gln907=" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.5:n.420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355293" }, { "@id": "http://reg.genome.network/allele/PA2825148320", "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.2751G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA2826733687", "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.2754G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 2814, "referenceAllele": "G", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.2751G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.2754G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1251G>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Gln417=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.2754G>A" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 2814, "referenceAllele": "G", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.2814G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA2827603506", "coordinates": [ { "allele": "A", "end": 2886, "referenceAllele": "G", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.2817G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln939=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604590", "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.2751G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605814", "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.2748G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.2820G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Gln940=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.2817G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Gln939=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.2820G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Gln940=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 2684, "referenceAllele": "G", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.1317G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Gln439=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.708G>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Gln236=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 3835, "referenceAllele": "G", "start": 3834 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1119G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Gln373=" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.2892G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.2823G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.2892G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148320", "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.2751G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2751G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.2751G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Gln917=" }, "RefSeq": { "hgvs": "NP_000343.2:p.Gln917=" } } } }, { "@id": "http://reg.genome.network/allele/PA2826733687", "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.2754G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA2827603506", "coordinates": [ { "allele": "A", "end": 2886, "referenceAllele": "G", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.2817G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln939=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604590", "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.2751G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln917=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605814", "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.2748G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln916=" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.2820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826733687", "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.2754G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }