{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356151137", "communityStandardTitle": [ "NM_153717.3(EVC):c.973C>T (p.Gln325Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=953837[alleleid]", "alleleId": 953837, "preferredName": "NM_153717.3(EVC):c.973C>T (p.Gln325Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/968311", "RCV": [ "RCV001243415" ], "variationId": 968311 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5749908C>T?assembly=hg19", "id": "chr4:g.5749908C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5748181C>T?assembly=hg38", "id": "chr4:g.5748181C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1729654379", "rs": 1729654379 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5748181-C-T?dataset=gnomad_r4", "id": "4-5748181-C-T", "variant": "4:5748181 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5748181, "referenceAllele": "C", "start": 5748180 } ], "hgvs": [ "NC_000004.12:g.5748181C>T", "CM000666.2:g.5748181C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5749908, "referenceAllele": "C", "start": 5749907 } ], "hgvs": [ "NC_000004.11:g.5749908C>T", "CM000666.1:g.5749908C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5800809, "referenceAllele": "C", "start": 5800808 } ], "hgvs": [ "NC_000004.10:g.5800809C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 41985, "referenceAllele": "C", "start": 41984 } ], "hgvs": [ "NG_008843.1:g.41985C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001238" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.11:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Gln325Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Gln325_Leu992delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264956.11:c.973C>T" }, "RefSeq": { "hgvs": "NM_153717.3:c.973C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264956.6:p.Gln325Ter" }, "RefSeq": { "hgvs": "NP_714928.1:p.Gln325Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.10:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Gln325Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Gln325_Leu992delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251631" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "G", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN002365", "geneNCBI_id": 1400, "geneSymbol": "CRMP1", "hgvs": [ "ENST00000506216.5:n.1779G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337808" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000509451.1:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000426774.1:p.Gln325Ter", "hgvsWellDefined": "ENSP00000426774.1:p.Gln325_Val535delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340211" }, { "@id": "http://reg.genome.network/allele/PA2826909492", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306090.1:c.973C>T" ], "proteinEffect": { "hgvs": "NP_001293019.1:p.Gln325Ter", "hgvsWellDefined": "NP_001293019.1:p.Gln325_Leu991delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025981" }, { "@id": "http://reg.genome.network/allele/PA2826910406", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306092.1:c.973C>T" ], "proteinEffect": { "hgvs": "NP_001293021.1:p.Gln325Ter", "hgvsWellDefined": "NP_001293021.1:p.Gln325_Val535delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025983" }, { "@id": "http://reg.genome.network/allele/PA1139752480", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.2:c.973C>T" ], "proteinEffect": { "hgvs": "NP_714928.1:p.Gln325Ter", "hgvsWellDefined": "NP_714928.1:p.Gln325_Leu992delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042487" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713865.2:c.973C>T" ], "proteinEffect": { "hgvs": "XP_006713928.1:p.Gln325Ter", "hgvsWellDefined": "XP_006713928.1:p.Gln325_Gly931delinsHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070393" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713866.2:c.973C>T" ], "proteinEffect": { "hgvs": "XP_006713929.1:p.Gln325Ter", "hgvsWellDefined": 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