{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA170827", "communityStandardTitle": [ "NM_000477.7(ALB):c.412C>T (p.Arg138Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1057398", "active": true, "id": "COSM1057398" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166100[alleleid]", "alleleId": 166100, "preferredName": "NM_000477.7(ALB):c.412C>T (p.Arg138Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156320", "RCV": [ "RCV000144404", "RCV003441754" ], "variationId": 156320 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-74274452-C-T", "id": "4-74274452-C-T", "variant": "4:74274452 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.74274452C>T?assembly=hg19", "id": "chr4:g.74274452C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.73408735C>T?assembly=hg38", "id": "chr4:g.73408735C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/77238412", "rs": 77238412 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-74274452-C-T?dataset=gnomad_r2_1", "id": "4-74274452-C-T", "variant": "4:74274452 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-73408735-C-T?dataset=gnomad_r3", "id": "4-73408735-C-T", "variant": "4:73408735 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-73408735-C-T?dataset=gnomad_r4", "id": "4-73408735-C-T", "variant": "4:73408735 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 73408735, "referenceAllele": "C", "start": 73408734 } ], "hgvs": [ "NC_000004.12:g.73408735C>T", "CM000666.2:g.73408735C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", 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"ENSP00000295897.4:p.Arg138Ter", "hgvsWellDefined": "ENSP00000295897.4:p.Arg138_Leu609delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744342", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.412C>T" }, "RefSeq": { "hgvs": "NM_000477.7:c.412C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Arg138Ter" }, "RefSeq": { "hgvs": "NP_000468.1:p.Arg138Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000295897.8:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000295897.4:p.Arg138Ter", "hgvsWellDefined": "ENSP00000295897.4:p.Arg138_Leu609delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254184" }, { "coordinates": [ { "allele": "T", "end": 157, "endIntronDirection": "-", "endIntronOffset": 619, "referenceAllele": "C", "start": 157, "startIntronDirection": "-", "startIntronOffset": 620 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000401494.7:c.138-620C>T" ], "proteinEffect": { "hgvs": "ENSP00000384695.3:n.138-620C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279246" }, { "coordinates": [ { "allele": "T", "end": 178, "endIntronDirection": "-", "endIntronOffset": 3260, "referenceAllele": "C", "start": 178, "startIntronDirection": "-", "startIntronOffset": 3261 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000415165.6:c.138-3261C>T" ], "proteinEffect": { "hgvs": "ENSP00000401820.2:n.138-3261C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS283864" }, { "coordinates": [ { "allele": "T", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000441319.5:c.418C>T" ], "proteinEffect": { "hgvs": "ENSP00000392541.1:p.Arg140Ter", "hgvsWellDefined": "ENSP00000392541.1:p.Arg140_Ala197del" }, "referenceSequence": "http://reg.genome.network/refseq/RS296339" }, { "coordinates": [ { "allele": "T", "end": 106, "endIntronDirection": "-", "endIntronOffset": 619, "referenceAllele": "C", "start": 106, "startIntronDirection": "-", "startIntronOffset": 620 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000476441.6:c.80-620C>T" ], "proteinEffect": { "hgvs": "ENSP00000423727.1:n.80-620C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317490" }, { "coordinates": [ { "allele": "T", "end": 239, "endIntronDirection": "-", "endIntronOffset": 619, "referenceAllele": "C", "start": 239, "startIntronDirection": "-", "startIntronOffset": 620 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000503124.5:c.33-620C>T" ], "proteinEffect": { "hgvs": "ENSP00000421027.1:n.33-620C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS335518" }, { "coordinates": [ { "allele": "T", "end": 98, "referenceAllele": "C", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000505649.5:n.98C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337381" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000509063.5:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000422784.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000422784.1:p.Arg138_Lys604delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluProThrMetArgIleArgGluArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339915" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000510166.5:n.448C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340752" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000514786.1:n.381C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344184" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000515133.5:n.453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344448" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621085.4:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000483421.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000483421.1:p.Arg138_Leu396delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405108" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621628.4:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000480485.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000480485.1:p.Arg138_Leu396delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405355" }, { "@id": "http://reg.genome.network/allele/PA170828", "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.5:c.412C>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Arg138Ter", "hgvsWellDefined": "NP_000468.1:p.Arg138_Leu609delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006531" }, { "@id": "http://reg.genome.network/allele/PA170828", "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.6:c.412C>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Arg138Ter", "hgvsWellDefined": "NP_000468.1:p.Arg138_Leu609delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510797" }, { "@id": "http://reg.genome.network/allele/PA170828", "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.7:c.412C>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Arg138Ter", "hgvsWellDefined": "NP_000468.1:p.Arg138_Leu609delinsLeuValArgProGluValAspValMetCysThrAlaPheHisAspAsnGluGluThrPheLeuLysLysTyrLeuTyrGluIleAlaArgArgHisProTyrPheTyrAlaProGluLeuLeuPhePheAlaLysArgTyrLysAlaAlaPheThrGluCysCysGlnAlaAlaAspLysAlaAlaCysLeuLeuProLysLeuAspGluLeuArgAspGluGlyLysAlaSerSerAlaLysGlnArgLeuLysCysAlaSerLeuGlnLysPheGlyGluArgAlaPheLysAlaTrpAlaValAlaArgLeuSerGlnArgPheProLysAlaGluPheAlaGluValSerLysLeuValThrAspLeuThrLysValHisThrGluCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662455", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.412C>T" }, "RefSeq": { "hgvs": "NM_000477.7:c.412C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Arg138Ter" }, "RefSeq": { "hgvs": "NP_000468.1:p.Arg138Ter" } } } } ], "type": "nucleotide" }