{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA207783", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44276[alleleid]", "alleleId": 44276, "preferredName": "NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35611", "RCV": [ "RCV000029257", "RCV000193953", "RCV001388602", "RCV003989301" ], "variationId": 35611 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17426071C>T?assembly=hg19", "id": "chr11:g.17426071C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17404524C>T?assembly=hg38", "id": "chr11:g.17404524C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193922400", "rs": 193922400 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17404524-C-T?dataset=gnomad_r4", "id": "11-17404524-C-T", "variant": "11:17404524 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17404524, "referenceAllele": "C", "start": 17404523 } ], "hgvs": [ "NC_000011.10:g.17404524C>T", "CM000673.2:g.17404524C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17426071, "referenceAllele": "C", "start": 17426070 } ], "hgvs": [ "NC_000011.9:g.17426071C>T", "CM000673.1:g.17426071C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17382647, "referenceAllele": "C", "start": 17382646 } ], "hgvs": [ "NC_000011.8:g.17382647C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 77379, "referenceAllele": "G", "start": 77378 } ], "hgvs": [ "NG_008867.1:g.77379G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3114, "referenceAllele": "G", "start": 3113 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.3114G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528374.2:c.124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825751" }, { "coordinates": [ { "allele": "A", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.6:n.1884G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825780" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532220.2:n.1277G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825814" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645004.2:n.1044G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826739" }, { "coordinates": [ { "allele": "A", "end": 3561, "referenceAllele": "G", "start": 3560 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.3561G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.3542G>A" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Arg1181Gln", "hgvsWellDefined": "ENSP00000507829.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "A", "end": 4850, "referenceAllele": "G", "start": 4849 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682185.1:n.4850G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827182" }, { "coordinates": [ { "allele": "A", "end": 3465, "referenceAllele": "G", "start": 3464 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.*1683G>A" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:n.*1683G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.3611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "A", "end": 3719, "referenceAllele": "G", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.*1976G>A" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:n.*1976G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "A", "end": 3834, "referenceAllele": "G", "start": 3833 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.3834G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "A", "end": 3691, "referenceAllele": "G", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.3691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "A", "end": 3558, "referenceAllele": "G", "start": 3557 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.3558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.3611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "A", "end": 3465, "endIntronDirection": "+", "endIntronOffset": 970, "referenceAllele": "G", "start": 3465, "startIntronDirection": "+", "startIntronOffset": 969 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.3396+970G>A" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:n.3396+970G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "A", "end": 3713, "referenceAllele": "G", "start": 3712 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.3713G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "A", "end": 3638, "referenceAllele": "G", "start": 3637 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.3542G>A" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Arg1181Gln", "hgvsWellDefined": "ENSP00000507768.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "A", "end": 3770, "referenceAllele": "G", "start": 3769 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.3770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "A", "end": 3716, "referenceAllele": "G", "start": 3715 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.3716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "A", "end": 3703, "referenceAllele": "G", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.*682G>A" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:n.*682G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "A", "end": 3692, "referenceAllele": "G", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.*1714G>A" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:n.*1714G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "A", "end": 3691, "referenceAllele": "G", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.3691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "A", "end": 3570, "referenceAllele": "G", "start": 3569 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.3545G>A" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Arg1182Gln", "hgvsWellDefined": "ENSP00000507496.1:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "A", "end": 3609, "referenceAllele": "G", "start": 3608 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.3609G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "A", "end": 3517, "referenceAllele": "G", "start": 3516 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.3517G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "A", "end": 3656, "referenceAllele": "G", "start": 3655 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.*1717G>A" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:n.*1717G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "A", "end": 3046, "referenceAllele": "G", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.3046G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "A", "end": 3687, "referenceAllele": "G", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.3687G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "A", "end": 3720, "referenceAllele": "G", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.3720G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "A", "end": 3657, "referenceAllele": "G", "start": 3656 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.3657G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.3614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "A", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.*1757G>A" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:n.*1757G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "A", "end": 3427, "referenceAllele": "G", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.3386G>A" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Arg1129Gln", "hgvsWellDefined": "ENSP00000506935.1:p.Arg1129Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "A", "end": 3479, "referenceAllele": "G", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*3250G>A" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*3250G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "A", "end": 3684, "referenceAllele": "G", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*1941G>A" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*1941G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg1183Gln", "hgvsWellDefined": "ENSP00000303960.4:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.3545G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Arg1182Gln", "hgvsWellDefined": "ENSP00000374467.4:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3545G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg1182Gln" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg1182Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3577, "referenceAllele": "G", "start": 3576 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.3542G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Arg1181Gln", "hgvsWellDefined": "ENSP00000493749.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642579.1:c.1629G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766821" }, { "coordinates": [ { "allele": "A", "end": 3499, "referenceAllele": "G", "start": 3498 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.3499G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "A", "end": 3327, "referenceAllele": "G", "start": 3326 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.3327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.3545G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Arg1182Gln", "hgvsWellDefined": "ENSP00000494450.1:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 3605, "referenceAllele": "G", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*1521G>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*1521G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "G", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643925.1:c.1669G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767546" }, { "coordinates": [ { "allele": "A", "end": 1901, "referenceAllele": "G", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.1901G>A" ], "proteinEffect": { "hgvs": "ENSP00000496282.1:p.Arg634Gln", "hgvsWellDefined": "ENSP00000496282.1:p.Arg634Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767818" }, { "coordinates": [ { "allele": "A", "end": 3543, "referenceAllele": "G", "start": 3542 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.*1800G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.*1800G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 3673, "referenceAllele": "G", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.*1717G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*1717G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 3597, "referenceAllele": "G", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*1830G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*1830G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 3642, "referenceAllele": "G", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.3611G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Arg1204Gln", "hgvsWellDefined": "ENSP00000494321.1:p.Arg1204Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "G", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645004.1:n.684G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768115" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "G", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.2744G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645417.1:c.711G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768340" }, { "coordinates": [ { "allele": "A", "end": 2893, "referenceAllele": "G", "start": 2892 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*1809G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*1809G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 3820, "referenceAllele": "G", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.3820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 3693, "referenceAllele": "G", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.*682G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:n.*682G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 3283, "referenceAllele": "G", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*1501G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*1501G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 3493, "referenceAllele": "G", "start": 3492 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*2012G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*2012G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 3556, "referenceAllele": "G", "start": 3555 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*1818G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*1818G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 2851, "referenceAllele": "G", "start": 2850 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.2851G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "A", "end": 3610, "referenceAllele": "G", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.3542G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Arg1181Gln", "hgvsWellDefined": "ENSP00000494101.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 3676, "referenceAllele": "G", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*1941G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*1941G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 3551, "referenceAllele": "G", "start": 3550 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.3551G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.3551G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "A", "end": 3364, "referenceAllele": "G", "start": 3363 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.3296G>A" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Arg1099Gln", "hgvsWellDefined": "ENSP00000495389.1:p.Arg1099Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 5420, "referenceAllele": "G", "start": 5419 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*3275G>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*3275G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 3495, "referenceAllele": "G", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*1686G>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*1686G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg1183Gln", "hgvsWellDefined": "ENSP00000303960.4:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.3545G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Arg1182Gln", "hgvsWellDefined": "ENSP00000374467.3:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.1:n.677G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350700" }, { "coordinates": [ { "allele": "A", "end": 3458, "referenceAllele": "G", "start": 3457 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.*421G>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:n.*421G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "A", "end": 15, "referenceAllele": "G", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528374.1:c.15G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353923" }, { "coordinates": [ { "allele": "A", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000531137.1:n.38G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356281" }, { "@id": "http://reg.genome.network/allele/PA097171", "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.3545G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg1182Gln", "hgvsWellDefined": "NP_000343.2:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA207784", "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1183Gln", "hgvsWellDefined": "NP_001274103.1:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 3608, "referenceAllele": "G", "start": 3607 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.3545G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Arg1182Gln", "hgvsWellDefined": "XP_011518633.1:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Arg1183Gln", "hgvsWellDefined": "XP_011518634.1:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 2167, "referenceAllele": "G", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.2045G>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Arg682Gln", "hgvsWellDefined": "XP_011518635.1:p.Arg682Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.3611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 3511, "referenceAllele": "G", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.3511G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.3508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030889", "coordinates": [ { "allele": "A", "end": 3680, "referenceAllele": "G", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.3611G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg1204Gln", "hgvsWellDefined": "NP_001338224.1:p.Arg1204Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604786", "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.3545G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg1182Gln", "hgvsWellDefined": "NP_001338225.1:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827606009", "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.3542G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg1181Gln", "hgvsWellDefined": "NP_001338226.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.3694G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "G", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.3614G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Arg1205Gln", "hgvsWellDefined": "XP_016873686.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 3682, "referenceAllele": "G", "start": 3681 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.3611G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Arg1204Gln", "hgvsWellDefined": "XP_016873688.1:p.Arg1204Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "G", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.3614G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Arg1205Gln", "hgvsWellDefined": "XP_016873690.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.2111G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Arg704Gln", "hgvsWellDefined": "XP_016873691.1:p.Arg704Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 2590, "referenceAllele": "G", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.1502G>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Arg501Gln", "hgvsWellDefined": "XP_016873693.1:p.Arg501Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 4629, "referenceAllele": "G", "start": 4628 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1913G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Arg638Gln", "hgvsWellDefined": "XP_024304436.1:p.Arg638Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "G", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.3686G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.3617G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 3766, "referenceAllele": "G", "start": 3765 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.3766G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA097171", "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.3545G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg1182Gln", "hgvsWellDefined": "NP_000343.2:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3545G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg1182Gln" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg1182Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA207784", "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1183Gln", "hgvsWellDefined": "NP_001274103.1:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030889", "coordinates": [ { "allele": "A", "end": 3680, "referenceAllele": "G", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.3611G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg1204Gln", "hgvsWellDefined": "NP_001338224.1:p.Arg1204Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604786", "coordinates": [ { "allele": "A", "end": 3614, "referenceAllele": "G", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.3545G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg1182Gln", "hgvsWellDefined": "NP_001338225.1:p.Arg1182Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827606009", "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.3542G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg1181Gln", "hgvsWellDefined": "NP_001338226.1:p.Arg1181Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.3694G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA207784", "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1183Gln", "hgvsWellDefined": "NP_001274103.1:p.Arg1183Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }