{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379814895", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=970930[alleleid]", "alleleId": 970930, "preferredName": "NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/982898", "RCV": [ "RCV001262625", "RCV002251568", "RCV002251567" ], "variationId": 982898 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17449468A>C?assembly=hg19", "id": "chr11:g.17449468A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17427921A>C?assembly=hg38", "id": "chr11:g.17427921A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1955658642", "rs": 1955658642 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 17427921, "referenceAllele": "A", "start": 17427920 } ], "hgvs": [ "NC_000011.10:g.17427921A>C", "CM000673.2:g.17427921A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 17449468, "referenceAllele": "A", "start": 17449467 } ], "hgvs": [ "NC_000011.9:g.17449468A>C", "CM000673.1:g.17449468A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 17406044, "referenceAllele": "A", "start": 17406043 } ], "hgvs": [ "NC_000011.8:g.17406044A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "G", "end": 53982, "referenceAllele": "T", "start": 53981 } ], "hgvs": [ "NG_008867.1:g.53982T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1731, "referenceAllele": "T", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.1731T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "T", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.6:n.321T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825780" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "G", "end": 2075, "referenceAllele": "T", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.2075T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000507829.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "G", "end": 3367, "referenceAllele": "T", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682185.1:n.3367T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827182" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "T", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.*200T>G" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:n.*200T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "G", "end": 2233, "referenceAllele": "T", "start": 2232 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.*490T>G" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:n.*490T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "G", "end": 2249, "referenceAllele": "T", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.2249T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "G", "end": 2075, "referenceAllele": "T", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.2075T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000508229.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "G", "end": 2230, "referenceAllele": "T", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.2230T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "G", "end": 2155, "referenceAllele": "T", "start": 2154 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000507768.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "G", "end": 2287, "referenceAllele": "T", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.2287T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "G", "end": 3144, "referenceAllele": "T", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683253.1:n.3144T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828235" }, { "coordinates": [ { "allele": "G", "end": 2230, "referenceAllele": "T", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.2230T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "G", "end": 2137, "referenceAllele": "T", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000508318.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "G", "end": 2209, "referenceAllele": "T", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.*231T>G" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:n.*231T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "G", "end": 2087, "referenceAllele": "T", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.2062T>G" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Trp688Gly", "hgvsWellDefined": "ENSP00000507496.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "G", "end": 2034, "referenceAllele": "T", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.2034T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "G", "end": 2170, "referenceAllele": "T", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.*231T>G" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:n.*231T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "G", "end": 1723, "endIntronDirection": "-", "endIntronOffset": 10958, "referenceAllele": "T", "start": 1723, "startIntronDirection": "-", "startIntronOffset": 10959 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.1724-10959T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "G", "end": 2201, "referenceAllele": "T", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.2201T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "G", "end": 2234, "referenceAllele": "T", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.2234T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "G", "end": 2016, "referenceAllele": "T", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.*271T>G" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:n.*271T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "G", "end": 1944, "referenceAllele": "T", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.1903T>G" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Trp635Gly", "hgvsWellDefined": "ENSP00000506935.1:p.Trp635Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "G", "end": 1996, "referenceAllele": "T", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*1767T>G" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*1767T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "G", "end": 2201, "referenceAllele": "T", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*458T>G" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*458T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.2062T>G" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Trp688Gly", "hgvsWellDefined": "ENSP00000303960.4:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.2062T>G" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Trp688Gly", "hgvsWellDefined": "ENSP00000374467.4:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2062T>G" }, "RefSeq": { "hgvs": "NM_000352.6:c.2062T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp688Gly" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp688Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1643, "referenceAllele": "T", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.6:c.1643T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS759302" }, { "coordinates": [ { "allele": "G", "end": 2094, "referenceAllele": "T", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000493749.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "G", "end": 143, "referenceAllele": "T", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642579.1:c.143T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766821" }, { "coordinates": [ { "allele": "G", "end": 2013, "referenceAllele": "T", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.2013T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "G", "end": 1897, "referenceAllele": "T", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.1897T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000494450.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "G", "end": 2122, "referenceAllele": "T", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*38T>G" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*38T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "G", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.415T>G" ], "proteinEffect": { "hgvs": "ENSP00000496282.1:p.Trp139Gly", "hgvsWellDefined": "ENSP00000496282.1:p.Trp139Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS767818" }, { "coordinates": [ { "allele": "G", "end": 1864, "referenceAllele": "T", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.*423T>G" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:n.*423T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.*271T>G" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.*271T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "T", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*1764T>G" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*1764T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "G", "end": 1232, "referenceAllele": "T", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644649.1:c.1232T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767920" }, { "coordinates": [ { "allele": "G", "end": 2187, "referenceAllele": "T", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.*231T>G" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*231T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*364T>G" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*364T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "G", "end": 2159, "referenceAllele": "T", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.2128T>G" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Trp710Gly", "hgvsWellDefined": "ENSP00000494321.1:p.Trp710Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "G", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.1314T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "G", "end": 1507, "referenceAllele": "T", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*423T>G" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*423T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "G", "end": 2337, "referenceAllele": "T", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.2337T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "G", "end": 2127, "referenceAllele": "T", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000495516.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "T", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*200T>G" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*200T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "G", "end": 1904, "referenceAllele": "T", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*423T>G" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*423T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "G", "end": 2070, "referenceAllele": "T", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*332T>G" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*332T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "G", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.1285T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "G", "end": 2127, "referenceAllele": "T", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.2059T>G" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Trp687Gly", "hgvsWellDefined": "ENSP00000494101.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "G", "end": 2193, "referenceAllele": "T", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*458T>G" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*458T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "G", "end": 2065, "referenceAllele": "T", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.2065T>G" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.2065T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "G", "end": 1878, "referenceAllele": "T", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.1810T>G" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Trp604Gly", "hgvsWellDefined": "ENSP00000495389.1:p.Trp604Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "G", "end": 3934, "referenceAllele": "T", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*1789T>G" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*1789T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "G", "end": 2009, "referenceAllele": "T", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*200T>G" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*200T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.2062T>G" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Trp688Gly", "hgvsWellDefined": "ENSP00000303960.4:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.2062T>G" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Trp688Gly", "hgvsWellDefined": "ENSP00000374467.3:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "G", "end": 2075, "referenceAllele": "T", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2032T>G" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Trp678Gly", "hgvsWellDefined": "ENSP00000431653.1:p.Trp678Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "G", "end": 173, "referenceAllele": "T", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000531911.1:n.173T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS356922" }, { "@id": "http://reg.genome.network/allele/PA2825148135", "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.2062T>G" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp688Gly", "hgvsWellDefined": "NP_000343.2:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA2826733538", "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.2062T>G" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp688Gly", "hgvsWellDefined": "NP_001274103.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "G", "end": 2122, "referenceAllele": "T", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.2059T>G" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Trp687Gly", "hgvsWellDefined": "XP_011518633.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.2062T>G" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Trp688Gly", "hgvsWellDefined": "XP_011518634.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "T", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.559T>G" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Trp187Gly", "hgvsWellDefined": "XP_011518635.1:p.Trp187Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.2062T>G" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Trp688Gly", "hgvsWellDefined": "XP_011518636.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.2125T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.2125T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.2125T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.2125T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA1139729702", "coordinates": [ { "allele": "G", "end": 2197, "referenceAllele": "T", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.2128T>G" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp710Gly", "hgvsWellDefined": "NP_001338224.1:p.Trp710Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604427", "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.2059T>G" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp687Gly", "hgvsWellDefined": "NP_001338225.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605651", "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.2059T>G" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp687Gly", "hgvsWellDefined": "NP_001338226.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "G", "end": 2200, "referenceAllele": "T", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.2128T>G" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Trp710Gly", "hgvsWellDefined": "XP_016873686.1:p.Trp710Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "G", "end": 2196, "referenceAllele": "T", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.2125T>G" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Trp709Gly", "hgvsWellDefined": "XP_016873688.1:p.Trp709Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "G", "end": 2200, "referenceAllele": "T", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.2128T>G" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Trp710Gly", "hgvsWellDefined": "XP_016873690.1:p.Trp710Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "G", "end": 1992, "referenceAllele": "T", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.625T>G" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Trp209Gly", "hgvsWellDefined": "XP_016873691.1:p.Trp209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "T", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.19T>G" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Trp7Gly", "hgvsWellDefined": "XP_016873693.1:p.Trp7Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "G", "end": 3143, "referenceAllele": "T", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.427T>G" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Trp143Gly", "hgvsWellDefined": "XP_024304436.1:p.Trp143Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "G", "end": 2200, "referenceAllele": "T", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.2200T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "G", "end": 2134, "referenceAllele": "T", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.2134T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "G", "end": 2200, "referenceAllele": "T", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.2200T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148135", "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.2062T>G" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp688Gly", "hgvsWellDefined": "NP_000343.2:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2062T>G" }, "RefSeq": { "hgvs": "NM_000352.6:c.2062T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp688Gly" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp688Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2826733538", "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.2062T>G" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp688Gly", "hgvsWellDefined": "NP_001274103.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA1139729702", "coordinates": [ { "allele": "G", "end": 2197, "referenceAllele": "T", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.2128T>G" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp710Gly", "hgvsWellDefined": "NP_001338224.1:p.Trp710Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604427", "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.2059T>G" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp687Gly", "hgvsWellDefined": "NP_001338225.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605651", "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.2059T>G" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp687Gly", "hgvsWellDefined": "NP_001338226.1:p.Trp687Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "T", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.2128T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826733538", "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "T", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.2062T>G" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp688Gly", "hgvsWellDefined": "NP_001274103.1:p.Trp688Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }