{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5903724", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577183[alleleid]", "alleleId": 577183, "preferredName": "NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/585352", "RCV": [ "RCV000710397", "RCV001825411", "RCV002255099", "RCV002499280", "RCV003321726" ], "variationId": 585352 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-17482118-C-T", "id": "11-17482118-C-T", "variant": "11:17482118 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17482118C>T?assembly=hg19", "id": "chr11:g.17482118C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17460571C>T?assembly=hg38", "id": "chr11:g.17460571C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769569410", "rs": 769569410 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17482118-C-T?dataset=gnomad_r2_1", "id": "11-17482118-C-T", "variant": "11:17482118 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17460571-C-T?dataset=gnomad_r3", "id": "11-17460571-C-T", "variant": "11:17460571 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17460571-C-T?dataset=gnomad_r4", "id": "11-17460571-C-T", "variant": "11:17460571 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17460571, "referenceAllele": "C", "start": 17460570 } ], "hgvs": [ "NC_000011.10:g.17460571C>T", "CM000673.2:g.17460571C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17482118, "referenceAllele": "C", "start": 17482117 } ], "hgvs": [ "NC_000011.9:g.17482118C>T", "CM000673.1:g.17482118C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17438694, "referenceAllele": "C", "start": 17438693 } ], "hgvs": [ "NC_000011.8:g.17438694C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 21332, "referenceAllele": "G", "start": 21331 } ], "hgvs": [ "NG_008867.1:g.21332G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 648, "endIntronDirection": "+", "endIntronOffset": 2867, "referenceAllele": "G", "start": 648, "startIntronDirection": "+", "startIntronOffset": 2866 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.648+2867G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526002.2:n.941G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825714" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528202.6:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825750" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.941G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "A", "end": 1903, "referenceAllele": "G", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682091.1:n.1903G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827088" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000507829.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682199.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827195" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000507094.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000507506.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.1028G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.941G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682863.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827851" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000508229.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000507768.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683253.1:n.1908G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828235" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000508318.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683531.1:n.997G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828505" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000508265.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000507496.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683808.1:n.264G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828777" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684221.1:n.1764G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829178" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.1046G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000507143.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.1021G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.941G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000507705.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000506935.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*633G>A" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*633G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000506841.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Asp310Asn", "hgvsWellDefined": "ENSP00000303960.4:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Asp310Asn", "hgvsWellDefined": "ENSP00000374467.4:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.928G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Asp310Asn" }, "RefSeq": { "hgvs": "NP_000343.2:p.Asp310Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.6:c.804G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759302" }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000635881.1:n.956G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762707" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000493749.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "A", "end": 879, "referenceAllele": "G", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.879G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.909G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000494450.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000496124.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000495378.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000493558.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*630G>A" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*630G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000494567.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000495085.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 959, "referenceAllele": "G", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000494321.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.210G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "G", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000494564.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.1101G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000495516.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000495259.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000495025.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.904G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:p.Asp302Asn", "hgvsWellDefined": "ENSP00000496070.1:p.Asp302Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.179G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "A", "end": 1780, "referenceAllele": "G", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646737.1:c.*1022G>A" ], "proteinEffect": { "hgvs": "ENSP00000494874.1:n.*1022G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769041" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000494101.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000493720.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.826G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:p.Asp276Asn", "hgvsWellDefined": "ENSP00000496741.1:p.Asp276Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000495389.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000493677.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.925G>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:p.Asp309Asn", "hgvsWellDefined": "ENSP00000495744.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Asp310Asn", "hgvsWellDefined": "ENSP00000303960.4:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Asp310Asn", "hgvsWellDefined": "ENSP00000374467.3:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Asp310Asn", "hgvsWellDefined": "ENSP00000431653.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "A", "end": 959, "referenceAllele": "G", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.5:n.959G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357611" }, { "@id": "http://reg.genome.network/allele/PA097433", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.928G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Asp310Asn", "hgvsWellDefined": "NP_000343.2:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA891861798", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Asp310Asn", "hgvsWellDefined": "NP_001274103.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.925G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Asp309Asn", "hgvsWellDefined": "XP_011518633.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Asp310Asn", "hgvsWellDefined": "XP_011518634.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Asp310Asn", "hgvsWellDefined": "XP_011518636.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030815", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Asp310Asn", "hgvsWellDefined": "NP_001338224.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604120", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.925G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Asp309Asn", "hgvsWellDefined": "NP_001338225.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605345", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.925G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Asp309Asn", "hgvsWellDefined": "NP_001338226.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.928G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Asp310Asn", "hgvsWellDefined": "XP_016873686.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.925G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Asp309Asn", "hgvsWellDefined": "XP_016873688.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.928G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Asp310Asn", "hgvsWellDefined": "XP_016873690.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 778, "referenceAllele": "G", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.-590G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:n.-590G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.-810G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:n.-810G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.1000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.1000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.1000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA097433", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.928G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Asp310Asn", "hgvsWellDefined": "NP_000343.2:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.928G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Asp310Asn" }, "RefSeq": { "hgvs": "NP_000343.2:p.Asp310Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA891861798", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Asp310Asn", "hgvsWellDefined": "NP_001274103.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030815", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Asp310Asn", "hgvsWellDefined": "NP_001338224.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604120", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.925G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Asp309Asn", "hgvsWellDefined": "NP_001338225.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605345", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.925G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Asp309Asn", "hgvsWellDefined": "NP_001338226.1:p.Asp309Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA891861798", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Asp310Asn", "hgvsWellDefined": "NP_001274103.1:p.Asp310Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }