{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5642300", "communityStandardTitle": [ "NM_078470.6(COX15):c.305G>A (p.Trp102Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017354[alleleid]", "alleleId": 1017354, "preferredName": "NM_078470.6(COX15):c.305G>A (p.Trp102Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029833", "RCV": [ "RCV001331215", "RCV002307728", "RCV003738044" ], "variationId": 1029833 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-101487288-C-T", "id": "10-101487288-C-T", "variant": "10:101487288 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.101487288C>T?assembly=hg19", "id": "chr10:g.101487288C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.99727531C>T?assembly=hg38", "id": "chr10:g.99727531C>T" } ], "dbSNP": [ { 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"hgvs": [ "NC_000010.10:g.101487288C>T", "CM000672.1:g.101487288C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 101477278, "referenceAllele": "C", "start": 101477277 } ], "hgvs": [ "NC_000010.9:g.101477278C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 10136, "referenceAllele": "G", "start": 10135 } ], "hgvs": [ "NG_008986.1:g.10136G>A", "LRG_406:g.10136G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001357" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "ENST00000016171.6:c.305G>A" ], "proteinEffect": { "hgvs": "ENSP00000016171.6:p.Trp102Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS739966", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000016171.6:c.305G>A" }, "RefSeq": { "hgvs": "NM_078470.6:c.305G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000016171.6:p.Trp102Ter" }, "RefSeq": { "hgvs": "NP_510870.1:p.Trp102Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "hgvs": [ "ENST00000649102.1:c.305G>A" ], "proteinEffect": { "hgvs": "ENSP00000497114.1:p.Trp102Ter", "hgvsWellDefined": "ENSP00000497114.1:p.Trp102_Pro185delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysMetProCysValHisProAlaCysCysLeuLeuLeuGluLysGlyLeuAlaGlnProTrpHisGluArgThrCysSerCysProLeuTrpProArgLeuLeuProGlySerValGlyMetValTyrGlyGluLysTrpThrArgArgLysIleArgLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770350" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "G", 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"http://reg.genome.network/refseq/RS247509" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "G", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "ENST00000370483.9:c.305G>A" ], "proteinEffect": { "hgvs": "ENSP00000359514.5:p.Trp102Ter", "hgvsWellDefined": "ENSP00000359514.5:p.Trp102_Ile388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnGlyProValLeuPheAsnPheThrPheLysIleSerAspLeuAspGluGlyIleArgAsnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268084" }, { "coordinates": [ { 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"NP_004367.2:p.Trp102_Ile388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnGlyProValLeuPheAsnPheThrPheLysIleSerAspLeuAspGluGlyIleArgAsnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029539" }, { "@id": "http://reg.genome.network/allele/PA2499295708", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_078470.4:c.305G>A", "LRG_406t1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_510870.1:p.Trp102Ter", "hgvsWellDefined": "NP_510870.1:p.Trp102_Lys410delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnValGlyLeuGlyIleSerThrLeuLeuMetTyrValProThrProLeuAlaAlaThrHisGlnSerGlySerLeuAlaLeuLeuThrGlyAlaLeuTrpLeuMetAsnGluLeuArgArgValProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040116" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_005269539.3:c.305G>A" ], "proteinEffect": { "hgvs": "XP_005269596.1:p.Trp102Ter", "hgvsWellDefined": "XP_005269596.1:p.Trp102_Ser388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnThrTyrTyrArgThrGluLeuSerGlnLysMetGlnLeuHisCysAsnSerThrAsnMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066168" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_006717633.2:c.305G>A" ], "proteinEffect": { "hgvs": "XP_006717696.1:p.Trp102Ter", "hgvsWellDefined": "XP_006717696.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072255" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_006717634.2:c.305G>A" ], "proteinEffect": { "hgvs": "XP_006717697.1:p.Trp102Ter", "hgvsWellDefined": "XP_006717697.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072256" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_011539298.1:c.305G>A" ], "proteinEffect": { "hgvs": "XP_011537600.1:p.Trp102Ter", "hgvsWellDefined": "XP_011537600.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106248" }, { "@id": "http://reg.genome.network/allele/PA2827063261", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320974.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001307903.1:p.Trp102Ter", "hgvsWellDefined": "NP_001307903.1:p.Trp102_Ser388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnThrTyrTyrArgThrGluLeuSerGlnLysMetGlnLeuHisCysAsnSerThrAsnMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513939" }, { "@id": "http://reg.genome.network/allele/PA2827063465", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320975.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001307904.1:p.Trp102Ter", "hgvsWellDefined": "NP_001307904.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513940" }, { "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320976.1:c.-150G>A" ], "proteinEffect": { "hgvs": "NP_001307905.1:n.-150G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS513941" }, { "@id": "http://reg.genome.network/allele/PA2829536688", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_004376.6:c.305G>A" ], "proteinEffect": { "hgvs": "NP_004367.2:p.Trp102Ter", "hgvsWellDefined": "NP_004367.2:p.Trp102_Ile388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnGlyProValLeuPheAsnPheThrPheLysIleSerAspLeuAspGluGlyIleArgAsnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525204" }, { "@id": "http://reg.genome.network/allele/PA2499295708", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_078470.5:c.305G>A" ], "proteinEffect": { "hgvs": "NP_510870.1:p.Trp102Ter", "hgvsWellDefined": "NP_510870.1:p.Trp102_Lys410delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnValGlyLeuGlyIleSerThrLeuLeuMetTyrValProThrProLeuAlaAlaThrHisGlnSerGlySerLeuAlaLeuLeuThrGlyAlaLeuTrpLeuMetAsnGluLeuArgArgValProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526439" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_006717634.3:c.305G>A" ], "proteinEffect": { "hgvs": "XP_006717697.1:p.Trp102Ter", "hgvsWellDefined": "XP_006717697.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539449" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "XM_011539298.2:c.305G>A" ], "proteinEffect": { "hgvs": "XP_011537600.1:p.Trp102Ter", "hgvsWellDefined": "XP_011537600.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553596" }, { "@id": "http://reg.genome.network/allele/PA2827063261", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320974.2:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001307903.1:p.Trp102Ter", "hgvsWellDefined": "NP_001307903.1:p.Trp102_Ser388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnThrTyrTyrArgThrGluLeuSerGlnLysMetGlnLeuHisCysAsnSerThrAsnMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685128" }, { "@id": "http://reg.genome.network/allele/PA2827063465", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320975.2:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001307904.1:p.Trp102Ter", "hgvsWellDefined": "NP_001307904.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685129" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001320976.2:c.-150G>A" ], "proteinEffect": { "hgvs": "NP_001307905.1:n.-150G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685130" }, { "@id": "http://reg.genome.network/allele/PA2828458906", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001372024.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001358953.1:p.Trp102Ter", "hgvsWellDefined": "NP_001358953.1:p.Trp102_Phe419delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnSerPheThrLeuValAlaGlnAlaGlyValGlnTrpArgAspLeuSerSerLeuCysAsnLeuHisPheProGlySerSerAspSerHisAlaSerAlaSerArgValAlaGlyThrThrGlyThrSerHisHisAlaTrpLeuIleLeuTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693089" }, { "@id": "http://reg.genome.network/allele/PA2828459326", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001372025.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001358954.1:p.Trp102Ter", "hgvsWellDefined": "NP_001358954.1:p.Trp102_Lys416delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuThrLeuSerSerLeuGlnGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnValGlyLeuGlyIleSerThrLeuLeuMetTyrValProThrProLeuAlaAlaThrHisGlnSerGlySerLeuAlaLeuLeuThrGlyAlaLeuTrpLeuMetAsnGluLeuArgArgValProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693090" }, { "@id": "http://reg.genome.network/allele/PA2828459721", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001372026.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001358955.1:p.Trp102Ter", "hgvsWellDefined": "NP_001358955.1:p.Trp102_Lys401delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnValGlyLeuGlyIleSerThrLeuLeuMetTyrValProThrProLeuAlaAlaThrHisGlnSerGlySerLeuAlaLeuLeuThrGlyAlaLeuTrpLeuMetAsnGluLeuArgArgValProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693091" }, { "@id": "http://reg.genome.network/allele/PA2828460174", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001372027.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001358956.1:p.Trp102Ter", "hgvsWellDefined": "NP_001358956.1:p.Trp102_Cys372delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTrpAlaTrpAlaSerAlaArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693092" }, { "@id": "http://reg.genome.network/allele/PA2828460647", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_001372028.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001358957.1:p.Trp102Ter", "hgvsWellDefined": "NP_001358957.1:p.Trp102_Ser298delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAsnHisPheSerHisCysHisTyrSerAlaLeuLeuProLeuSerGluAsnSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693093" }, { "@id": "http://reg.genome.network/allele/PA2829536688", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_004376.7:c.305G>A" ], "proteinEffect": { "hgvs": "NP_004367.2:p.Trp102Ter", "hgvsWellDefined": "NP_004367.2:p.Trp102_Ile388delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnGlyProValLeuPheAsnPheThrPheLysIleSerAspLeuAspGluGlyIleArgAsnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696121" }, { "@id": "http://reg.genome.network/allele/PA2499295708", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NM_078470.6:c.305G>A" ], "proteinEffect": { "hgvs": "NP_510870.1:p.Trp102Ter", "hgvsWellDefined": "NP_510870.1:p.Trp102_Lys410delinsHisLeuIleLysGluMetLysProProThrSerGlnGluGluTrpGluAlaGluPheGlnArgTyrGlnGlnPheProGluPheLysIleLeuAsnHisAspMetThrLeuThrGluPheLysPheIleTrpTyrMetGluTyrSerHisArgMetTrpGlyArgLeuValGlyLeuValTyrIleLeuProAlaAlaTyrPheTrpArgLysGlyTrpLeuSerArgGlyMetLysGlyArgValLeuAlaLeuCysGlyLeuValCysPheGlnGlyLeuLeuGlyTrpTyrMetValLysSerGlyLeuGluGluLysSerAspSerHisAspIleProArgValSerGlnTyrArgLeuAlaAlaHisLeuGlySerAlaLeuValLeuTyrCysAlaSerLeuTrpThrSerLeuSerLeuLeuLeuProProHisLysLeuProGluThrHisGlnLeuLeuGlnLeuArgArgPheAlaHisGlyThrAlaGlyLeuValPheLeuThrAlaLeuSerGlyAlaPheValAlaGlyLeuAspAlaGlyLeuValTyrAsnSerPheProLysMetGlyGluSerTrpIleProGluAspLeuPheThrPheSerProIleLeuArgAsnValPheGluAsnProThrMetValGlnPheAspHisArgIleLeuGlyIleThrSerValThrAlaIleThrValLeuTyrPheLeuSerArgArgIleProLeuProArgArgThrLysMetAlaAlaValThrLeuLeuAlaLeuAlaTyrThrGlnValGlyLeuGlyIleSerThrLeuLeuMetTyrValProThrProLeuAlaAlaThrHisGlnSerGlySerLeuAlaLeuLeuThrGlyAlaLeuTrpLeuMetAsnGluLeuArgArgValProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699495", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000016171.6:c.305G>A" }, "RefSeq": { "hgvs": "NM_078470.6:c.305G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000016171.6:p.Trp102Ter" }, "RefSeq": { "hgvs": "NP_510870.1:p.Trp102Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002263", "geneNCBI_id": 1355, "geneSymbol": "COX15", "hgvs": [ "NR_164009.1:n.383G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705670" } ], "type": "nucleotide" }