{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA126211", "communityStandardTitle": [ "NM_000162.5(GCK):c.781G>A (p.Gly261Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31174[alleleid]", "alleleId": 31174, "preferredName": "NM_000162.5(GCK):c.781G>A (p.Gly261Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16135", "RCV": [ "RCV000426797", "RCV001507008", "RCV003325940", "RCV003445078", "RCV000017515" ], "variationId": 16135 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-44187331-C-T", "id": "7-44187331-C-T", "variant": "7:44187331 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44187331C>T?assembly=hg19", "id": "chr7:g.44187331C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44147732C>T?assembly=hg38", "id": "chr7:g.44147732C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894008", "rs": 104894008 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-44187331-C-T?dataset=gnomad_r2_1", "id": "7-44187331-C-T", "variant": "7:44187331 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-44147732-C-T?dataset=gnomad_r4", "id": "7-44147732-C-T", "variant": "7:44147732 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44147732, "referenceAllele": "C", "start": 44147731 } ], "hgvs": [ "NC_000007.14:g.44147732C>T", "CM000669.2:g.44147732C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44187331, "referenceAllele": "C", "start": 44187330 } ], "hgvs": [ "NC_000007.13:g.44187331C>T", "CM000669.1:g.44187331C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44153856, "referenceAllele": "C", "start": 44153855 } ], "hgvs": [ "NC_000007.12:g.44153856C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 46692, "referenceAllele": "G", "start": 46691 } ], "hgvs": [ "NG_008847.1:g.46692G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001243" }, { "coordinates": [ { "allele": "A", "end": 55439, "referenceAllele": "G", "start": 55438 } ], "hgvs": [ "NG_008847.2:g.55439G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616115" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1063, "referenceAllele": "G", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.8:c.*779G>A" ], "proteinEffect": { "hgvs": "ENSP00000379142.4:n.*779G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824497" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.5:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000482149.2:p.Gly261Arg", "hgvsWellDefined": "ENSP00000482149.2:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826483" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.7:c.784G>A" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Gly262Arg", "hgvsWellDefined": "ENSP00000223366.2:p.Gly262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748288" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.8:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Gly261Arg", "hgvsWellDefined": "ENSP00000384247.3:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.781G>A" }, "RefSeq": { "hgvs": "NM_000162.5:c.781G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Gly261Arg" }, "RefSeq": { "hgvs": "NP_000153.1:p.Gly261Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000671824.1:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000500264.1:p.Gly261Arg", "hgvsWellDefined": "ENSP00000500264.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773179" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000673284.1:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000499852.1:p.Gly261Arg", "hgvsWellDefined": "ENSP00000499852.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773641" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.6:c.784G>A" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Gly262Arg", "hgvsWellDefined": "ENSP00000223366.2:p.Gly262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS262162" }, { "coordinates": [ { "allele": "A", "end": 1063, "referenceAllele": "G", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.7:c.778G>A" ], "proteinEffect": { "hgvs": "ENSP00000379142.3:p.Gly260Arg", "hgvsWellDefined": "ENSP00000379142.3:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS276910" }, { "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.7:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Gly261Arg", "hgvsWellDefined": "ENSP00000384247.3:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS279907" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000437084.1:c.730G>A" ], "proteinEffect": { "hgvs": "ENSP00000402840.1:p.Gly244Arg", "hgvsWellDefined": "ENSP00000402840.1:p.Gly244Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS294291" }, { "coordinates": [ { "allele": "A", "end": 778, "referenceAllele": "G", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.4:c.778G>A" ], "proteinEffect": { "hgvs": "ENSP00000482149.1:p.Gly260Arg", "hgvsWellDefined": "ENSP00000482149.1:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS402978" }, { "@id": "http://reg.genome.network/allele/PA096296", "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.3:c.781G>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Gly261Arg", "hgvsWellDefined": "NP_000153.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006224" }, { "@id": "http://reg.genome.network/allele/PA645460286", "coordinates": [ { "allele": "A", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.1:c.784G>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Gly262Arg", "hgvsWellDefined": "NP_277042.1:p.Gly262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS039778" }, { "@id": "http://reg.genome.network/allele/PA2830123563", "coordinates": [ { "allele": "A", "end": 1076, "referenceAllele": "G", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.1:c.778G>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Gly260Arg", "hgvsWellDefined": "NP_277043.1:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 } ], "hgvs": [ "XR_927223.1:n.66C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS123733" }, { "@id": "http://reg.genome.network/allele/PA096296", "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.781G>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Gly261Arg", "hgvsWellDefined": "NP_000153.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936778", "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.781G>A" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Gly261Arg", "hgvsWellDefined": "NP_001341729.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA645460286", "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.784G>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Gly262Arg", "hgvsWellDefined": "NP_277042.1:p.Gly262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123563", "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.778G>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Gly260Arg", "hgvsWellDefined": "NP_277043.1:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 } ], "hgvs": [ "XR_927223.2:n.66C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608497" }, { "@id": "http://reg.genome.network/allele/PA096296", "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.781G>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Gly261Arg", "hgvsWellDefined": "NP_000153.1:p.Gly261Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.781G>A" }, "RefSeq": { "hgvs": "NM_000162.5:c.781G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Gly261Arg" }, "RefSeq": { "hgvs": "NP_000153.1:p.Gly261Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA645460286", "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.784G>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Gly262Arg", "hgvsWellDefined": "NP_277042.1:p.Gly262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123563", "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.778G>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Gly260Arg", "hgvsWellDefined": "NP_277043.1:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }