{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA170835", "communityStandardTitle": [ "NM_000477.7(ALB):c.802G>T (p.Glu268Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166104[alleleid]", "alleleId": 166104, "preferredName": "NM_000477.7(ALB):c.802G>T (p.Glu268Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156324", "RCV": [ "RCV000144408" ], "variationId": 156324 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.74277801G>T?assembly=hg19", "id": "chr4:g.74277801G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.73412084G>T?assembly=hg38", "id": "chr4:g.73412084G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/78340021", "rs": 78340021 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 73412084, "referenceAllele": "G", "start": 73412083 } ], "hgvs": [ "NC_000004.12:g.73412084G>T", "CM000666.2:g.73412084G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 74277801, "referenceAllele": "G", "start": 74277800 } ], "hgvs": [ "NC_000004.11:g.74277801G>T", "CM000666.1:g.74277801G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 74496665, "referenceAllele": "G", "start": 74496664 } ], "hgvs": [ "NC_000004.10:g.74496665G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 12830, "referenceAllele": "G", "start": 12829 } ], "hgvs": [ "NG_009291.1:g.12830G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001547" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000295897.9:c.802G>T" ], "proteinEffect": { "hgvs": "ENSP00000295897.4:p.Glu268Ter", "hgvsWellDefined": "ENSP00000295897.4:p.Glu268_Leu609delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744342", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.802G>T" }, "RefSeq": { "hgvs": "NM_000477.7:c.802G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Glu268Ter" }, "RefSeq": { "hgvs": "NP_000468.1:p.Glu268Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000295897.8:c.802G>T" ], "proteinEffect": { "hgvs": "ENSP00000295897.4:p.Glu268Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254184" }, { "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "G", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000401494.7:c.457G>T" ], "proteinEffect": { "hgvs": "ENSP00000384695.3:p.Glu153Ter", "hgvsWellDefined": "ENSP00000384695.3:p.Glu153_Leu494delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279246" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000415165.6:c.226G>T" ], "proteinEffect": { "hgvs": "ENSP00000401820.2:p.Glu76Ter", "hgvsWellDefined": "ENSP00000401820.2:p.Glu76_Leu417delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283864" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000476441.6:c.*81G>T" ], "proteinEffect": { "hgvs": "ENSP00000423727.1:n.*81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317490" }, { "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000503124.5:c.352G>T" ], "proteinEffect": { "hgvs": "ENSP00000421027.1:p.Glu118Ter", "hgvsWellDefined": "ENSP00000421027.1:p.Glu118_Leu459delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335518" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000505649.5:n.488G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337381" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "G", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000507673.1:n.119G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS338904" }, { "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000509063.5:c.802G>T" ], "proteinEffect": { "hgvs": "ENSP00000422784.1:p.Glu268Ter", "hgvsWellDefined": "ENSP00000422784.1:p.Glu268_Lys604delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluProThrMetArgIleArgGluArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339915" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000511370.1:c.335G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341652" }, { "coordinates": [ { "allele": "T", "end": 531, "endIntronDirection": "+", "endIntronOffset": 2722, "referenceAllele": "G", "start": 531, "startIntronDirection": "+", "startIntronOffset": 2721 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621085.4:c.490+2722G>T" ], "proteinEffect": { "hgvs": "ENSP00000483421.1:n.490+2722G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405108" }, { "coordinates": [ { "allele": "T", "end": 559, "endIntronDirection": "+", "endIntronOffset": 3008, "referenceAllele": "G", "start": 559, "startIntronDirection": "+", "startIntronOffset": 3007 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621628.4:c.486+3008G>T" ], "proteinEffect": { "hgvs": "ENSP00000480485.1:n.486+3008G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405355" }, { "@id": "http://reg.genome.network/allele/PA170836", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "G", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.5:c.802G>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Glu268Ter", "hgvsWellDefined": "NP_000468.1:p.Glu268_Leu609delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006531" }, { "@id": "http://reg.genome.network/allele/PA170836", "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.6:c.802G>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Glu268Ter", "hgvsWellDefined": "NP_000468.1:p.Glu268_Leu609delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510797" }, { "@id": "http://reg.genome.network/allele/PA170836", "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.7:c.802G>T" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Glu268Ter", "hgvsWellDefined": "NP_000468.1:p.Glu268_Leu609delinsCysCysHisGlyAspLeuLeuGluCysAlaAspAspArgAlaAspLeuAlaLysTyrIleCysGluAsnGlnAspSerIleSerSerLysLeuLysGluCysCysGluLysProLeuLeuGluLysSerHisCysIleAlaGluValGluAsnAspGluMetProAlaAspLeuProSerLeuAlaAlaAspPheValGluSerLysAspValCysLysAsnTyrAlaGluAlaLysAspValPheLeuGlyMetPheLeuTyrGluTyrAlaArgArgHisProAspTyrSerValValLeuLeuLeuArgLeuAlaLysThrTyrGluThrThrLeuGluLysCysCysAlaAlaAlaAspProHisGluCysTyrAlaLysValPheAspGluPheLysProLeuValGluGluProGlnAsnLeuIleLysGlnAsnCysGluLeuPheGluGlnLeuGlyGluTyrLysPheGlnAsnAlaLeuLeuValArgTyrThrLysLysValProGlnValSerThrProThrLeuValGluValSerArgAsnLeuGlyLysValGlySerLysCysCysLysHisProGluAlaLysArgMetProCysAlaGluAspTyrLeuSerValValLeuAsnGlnLeuCysValLeuHisGluLysThrProValSerAspArgValThrLysCysCysThrGluSerLeuValAsnArgArgProCysPheSerAlaLeuGluValAspGluThrTyrValProLysGluPheAsnAlaGluThrPheThrPheHisAlaAspIleCysThrLeuSerGluLysGluArgGlnIleLysLysGlnThrAlaLeuValGluLeuValLysHisLysProLysAlaThrLysGluGlnLeuLysAlaValMetAspAspPheAlaAlaPheValGluLysCysCysLysAlaAspAspLysGluThrCysPheAlaGluGluGlyLysLysLeuValAlaAlaSerGlnAlaAlaLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662455", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.802G>T" }, "RefSeq": { "hgvs": "NM_000477.7:c.802G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Glu268Ter" }, "RefSeq": { "hgvs": "NP_000468.1:p.Glu268Ter" } } } } ], "type": "nucleotide" }