{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388039746", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547394[alleleid]", "alleleId": 547394, "preferredName": "NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553388", "RCV": [ "RCV000668824" ], "variationId": 553388 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52548362C>A?assembly=hg19", "id": "chr13:g.52548362C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51974226C>A?assembly=hg38", "id": "chr13:g.51974226C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761084829", "rs": 761084829 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-52548362-C-A?dataset=gnomad_r2_1", "id": "13-52548362-C-A", "variant": "13:52548362 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-51974226-C-A?dataset=gnomad_r4", "id": "13-51974226-C-A", "variant": "13:51974226 C / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51974226, "referenceAllele": "C", "start": 51974225 } ], "hgvs": [ "NC_000013.11:g.51974226C>A", "CM000675.2:g.51974226C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 52548362, "referenceAllele": "C", "start": 52548361 } ], "hgvs": [ "NC_000013.10:g.52548362C>A", "CM000675.1:g.52548362C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51446363, "referenceAllele": "C", "start": 51446362 } ], "hgvs": [ "NC_000013.9:g.51446363C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 42269, "referenceAllele": "G", "start": 42268 } ], "hgvs": [ "NG_008806.1:g.42269G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:p.Glu332Ter", "hgvsWellDefined": "ENSP00000489512.2:p.Glu332_Leu663delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysHisSerSerValGlyGlyThrSerThrPheArgProThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "G", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:p.Glu332Ter", "hgvsWellDefined": "ENSP00000501045.2:p.Glu332_Gln497delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluThrGluCysCysCysValSerGlnAlaGlyLeuGluLeuLeuAlaSerSerAsnProProAlaSerAlaSerGlnSerAlaGlyIleAlaGlyValSerHisTyrAlaGlnProProSerTrpValLeuIleArgGlySerThrLysSerAspTyrIleLeuGluAspTrpCysGlyValThrValGlnCysProTrpArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Glu332Ter", "hgvsWellDefined": "ENSP00000500964.2:p.Glu332_Ile1258delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.994G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.994G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu332Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu332Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu332Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu332_Ile1258delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 802, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "G", "start": 802, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.803-142G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:n.803-142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 1099, "referenceAllele": "G", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674078.1:n.1099G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774101" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.550G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Glu184Ter", "hgvsWellDefined": "ENSP00000500964.1:p.Glu184_Ile1110delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu332Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu332_Ile1258delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 959, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "G", "start": 959, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.803-142G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:n.803-142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Glu332Ter", "hgvsWellDefined": "ENSP00000383221.3:p.Glu332_Ile1035delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000482841.6:n.1115G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322439" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Glu332Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Glu332_Arg894delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 27747, "referenceAllele": "G", "start": 211, "startIntronDirection": "-", "startIntronOffset": 27748 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-27748G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.994G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825279241", "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.994G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu332Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu332_Ile1258delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "coordinates": [ { "allele": "T", "end": 959, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "G", "start": 959, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.803-142G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:n.803-142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.898G>T" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "G", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.898G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.994G>T" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.994G>T" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "G", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.994G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "G", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.958G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu320Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.994G>T" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Glu332Ter", "hgvsWellDefined": "XP_005266489.1:p.Glu332_Ile1303delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.898G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.994G>T" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.994G>T" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.994G>T" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Glu332Ter", "hgvsWellDefined": "XP_011533422.1:p.Glu332_Ile1327delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.994G>T" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Glu332Ter", "hgvsWellDefined": "XP_011533423.1:p.Glu332_Ile1294delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.1213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.1213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.1213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "T", "end": 1213, 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"referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.898G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.994G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "T", "end": 4043, "referenceAllele": "G", "start": 4042 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.958G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu320Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.898G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "G", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Glu300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.994G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.994G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.994G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu332Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu332Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825279241", "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.994G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu332Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu332_Ile1258delinsGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.994G>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "coordinates": [ { "allele": "T", "end": 915, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "G", "start": 915, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.803-142G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:n.803-142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.994G>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Glu332Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }