{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA213842", "communityStandardTitle": [ "NM_000162.5(GCK):c.758T>C (p.Val253Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44916[alleleid]", "alleleId": 44916, "preferredName": "NM_000162.5(GCK):c.758T>C (p.Val253Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36252", "RCV": [ "RCV000029915", "RCV002472937" ], "variationId": 36252 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44187354A>G?assembly=hg19", "id": "chr7:g.44187354A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44147755A>G?assembly=hg38", "id": "chr7:g.44147755A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193921400", "rs": 193921400 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 44147755, "referenceAllele": "A", "start": 44147754 } ], "hgvs": [ "NC_000007.14:g.44147755A>G", "CM000669.2:g.44147755A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 44187354, "referenceAllele": "A", "start": 44187353 } ], "hgvs": [ "NC_000007.13:g.44187354A>G", "CM000669.1:g.44187354A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 44153879, "referenceAllele": "A", "start": 44153878 } ], "hgvs": [ "NC_000007.12:g.44153879A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "C", "end": 46669, "referenceAllele": "T", "start": 46668 } ], "hgvs": [ "NG_008847.1:g.46669T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001243" }, { "coordinates": [ { "allele": "C", "end": 55416, "referenceAllele": "T", "start": 55415 } ], "hgvs": [ "NG_008847.2:g.55416T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616115" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1040, "referenceAllele": "T", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.8:c.*756T>C" ], "proteinEffect": { "hgvs": "ENSP00000379142.4:n.*756T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824497" }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.5:c.758T>C" ], "proteinEffect": { "hgvs": "ENSP00000482149.2:p.Val253Ala", "hgvsWellDefined": "ENSP00000482149.2:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS826483" }, { "coordinates": [ { "allele": "C", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.7:c.761T>C" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Val254Ala", "hgvsWellDefined": "ENSP00000223366.2:p.Val254Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS748288" }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.8:c.758T>C" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Val253Ala", "hgvsWellDefined": "ENSP00000384247.3:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS754065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.758T>C" }, "RefSeq": { "hgvs": "NM_000162.5:c.758T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Val253Ala" }, "RefSeq": { "hgvs": "NP_000153.1:p.Val253Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000671824.1:c.758T>C" ], "proteinEffect": { "hgvs": "ENSP00000500264.1:p.Val253Ala", "hgvsWellDefined": "ENSP00000500264.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS773179" }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000673284.1:c.758T>C" ], "proteinEffect": { "hgvs": "ENSP00000499852.1:p.Val253Ala", "hgvsWellDefined": "ENSP00000499852.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS773641" }, { "coordinates": [ { "allele": "C", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.6:c.761T>C" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Val254Ala", "hgvsWellDefined": "ENSP00000223366.2:p.Val254Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS262162" }, { "coordinates": [ { "allele": "C", "end": 1040, "referenceAllele": "T", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.7:c.755T>C" ], "proteinEffect": { "hgvs": "ENSP00000379142.3:p.Val252Ala", "hgvsWellDefined": "ENSP00000379142.3:p.Val252Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS276910" }, { "coordinates": [ { "allele": "C", "end": 1228, "referenceAllele": "T", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.7:c.758T>C" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Val253Ala", "hgvsWellDefined": "ENSP00000384247.3:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS279907" }, { "coordinates": [ { "allele": "C", "end": 741, "referenceAllele": "T", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000437084.1:c.707T>C" ], "proteinEffect": { "hgvs": "ENSP00000402840.1:p.Val236Ala", "hgvsWellDefined": "ENSP00000402840.1:p.Val236Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS294291" }, { "coordinates": [ { "allele": "C", "end": 755, "referenceAllele": "T", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.4:c.755T>C" ], "proteinEffect": { "hgvs": "ENSP00000482149.1:p.Val252Ala", "hgvsWellDefined": "ENSP00000482149.1:p.Val252Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS402978" }, { "@id": "http://reg.genome.network/allele/PA213843", "coordinates": [ { "allele": "C", "end": 1228, "referenceAllele": "T", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.3:c.758T>C" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Val253Ala", "hgvsWellDefined": "NP_000153.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006224" }, { "@id": "http://reg.genome.network/allele/PA645460267", "coordinates": [ { "allele": "C", "end": 929, "referenceAllele": "T", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.1:c.761T>C" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Val254Ala", "hgvsWellDefined": "NP_277042.1:p.Val254Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS039778" }, { "@id": "http://reg.genome.network/allele/PA2830123526", "coordinates": [ { "allele": "C", "end": 1053, "referenceAllele": "T", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.1:c.755T>C" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Val252Ala", "hgvsWellDefined": "NP_277043.1:p.Val252Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "coordinates": [ { "allele": "G", "end": 82, "endIntronDirection": "+", "endIntronOffset": 7, "referenceAllele": "A", "start": 82, "startIntronDirection": "+", "startIntronOffset": 6 } ], "hgvs": [ "XR_927223.1:n.82+7A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS123733" }, { "@id": "http://reg.genome.network/allele/PA213843", "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.758T>C" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Val253Ala", "hgvsWellDefined": "NP_000153.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936755", "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.758T>C" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Val253Ala", "hgvsWellDefined": "NP_001341729.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA645460267", "coordinates": [ { "allele": "C", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.761T>C" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Val254Ala", "hgvsWellDefined": "NP_277042.1:p.Val254Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123526", "coordinates": [ { "allele": "C", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.755T>C" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Val252Ala", "hgvsWellDefined": "NP_277043.1:p.Val252Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "coordinates": [ { "allele": "G", "end": 82, "endIntronDirection": "+", "endIntronOffset": 7, "referenceAllele": "A", "start": 82, "startIntronDirection": "+", "startIntronOffset": 6 } ], "hgvs": [ "XR_927223.2:n.82+7A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS608497" }, { "@id": "http://reg.genome.network/allele/PA213843", "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.758T>C" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Val253Ala", "hgvsWellDefined": "NP_000153.1:p.Val253Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.758T>C" }, "RefSeq": { "hgvs": "NM_000162.5:c.758T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Val253Ala" }, "RefSeq": { "hgvs": "NP_000153.1:p.Val253Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA645460267", "coordinates": [ { "allele": "C", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.761T>C" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Val254Ala", "hgvsWellDefined": "NP_277042.1:p.Val254Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123526", "coordinates": [ { "allele": "C", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.755T>C" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Val252Ala", "hgvsWellDefined": "NP_277043.1:p.Val252Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }