{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA213705", "communityStandardTitle": [ "NM_000162.5(GCK):c.103A>T (p.Arg35Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44835[alleleid]", "alleleId": 44835, "preferredName": "NM_000162.5(GCK):c.103A>T (p.Arg35Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36171", "RCV": [ "RCV000029834", "RCV002463995" ], "variationId": 36171 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44193005T>A?assembly=hg19", "id": "chr7:g.44193005T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44153406T>A?assembly=hg38", "id": "chr7:g.44153406T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193922259", "rs": 193922259 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 44153406, 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49765, "referenceAllele": "A", "start": 49764 } ], "hgvs": [ "NG_008847.2:g.49765A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616115" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "A", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.8:c.*101A>T" ], "proteinEffect": { "hgvs": "ENSP00000379142.4:n.*101A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS824497" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.5:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000482149.2:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748288" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.8:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.103A>T" }, "RefSeq": { "hgvs": "NM_000162.5:c.103A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Arg35Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Arg35Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000671824.1:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000500264.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773179" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000673284.1:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000499852.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773641" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "A", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.6:c.106A>T" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Arg36Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262162" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "A", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.7:c.100A>T" ], "proteinEffect": { "hgvs": "ENSP00000379142.3:p.Arg34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276910" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "A", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.7:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS279907" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "A", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000437084.1:c.103A>T" ], "proteinEffect": { "hgvs": "ENSP00000402840.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000402840.1:p.Arg36_Gln448delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294291" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000476008.1:n.538A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317169" }, { "coordinates": [ { "allele": "T", "end": 100, "referenceAllele": "A", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.4:c.100A>T" ], "proteinEffect": { "hgvs": "ENSP00000482149.1:p.Arg34Ter", "hgvsWellDefined": "ENSP00000482149.1:p.Arg35_Gln464delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402978" }, { "@id": "http://reg.genome.network/allele/PA213706", "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "A", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.3:c.103A>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Arg35Ter", "hgvsWellDefined": "NP_000153.1:p.Arg36_Gln465delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006224" }, { "@id": "http://reg.genome.network/allele/PA645459495", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "A", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.1:c.106A>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Arg36Ter", "hgvsWellDefined": "NP_277042.1:p.Arg37_Gln466delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039778" }, { "@id": "http://reg.genome.network/allele/PA2830122645", "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "A", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.1:c.100A>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Arg34Ter", "hgvsWellDefined": "NP_277043.1:p.Arg35_Gln464delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "@id": "http://reg.genome.network/allele/PA213706", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.103A>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Arg35Ter", "hgvsWellDefined": "NP_000153.1:p.Arg36_Gln465delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936396", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.103A>T" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Arg35Ter", "hgvsWellDefined": "NP_001341729.1:p.Arg36_Ala456delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA645459495", "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "A", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.106A>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Arg36Ter", "hgvsWellDefined": "NP_277042.1:p.Arg37_Gln466delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830122645", "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "A", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.100A>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Arg34Ter", "hgvsWellDefined": "NP_277043.1:p.Arg35_Gln464delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "@id": "http://reg.genome.network/allele/PA213706", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.103A>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Arg35Ter", "hgvsWellDefined": "NP_000153.1:p.Arg36_Gln465delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.103A>T" }, "RefSeq": { "hgvs": "NM_000162.5:c.103A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Arg35Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Arg35Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645459495", "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "A", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.106A>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Arg36Ter", "hgvsWellDefined": "NP_277042.1:p.Arg37_Gln466delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830122645", "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "A", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.100A>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Arg34Ter", "hgvsWellDefined": "NP_277043.1:p.Arg35_Gln464delinsMetGlnLysGluMetAspArgGlyLeuArgLeuGluThrHisGluGluAlaSerValLysMetLeuProThrTyrValArgSerThrProGluGlySerGluValGlyAspPheLeuSerLeuAspLeuGlyGlyThrAsnPheArgValMetLeuValLysValGlyGluGlyGluGluGlyGlnTrpSerValLysThrLysHisGlnMetTyrSerIleProGluAspAlaMetThrGlyThrAlaGluMetLeuPheAspTyrIleSerGluCysIleSerAspPheLeuAspLysHisGlnMetLysHisLysLysLeuProLeuGlyPheThrPheSerPheProValArgHisGluAspIleAspLysGlyIleLeuLeuAsnTrpThrLysGlyPheLysAlaSerGlyAlaGluGlyAsnAsnValValGlyLeuLeuArgAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }