{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10605184", "communityStandardTitle": [ "NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269857[alleleid]", "alleleId": 269857, "preferredName": "NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285620", "RCV": [ "RCV000261356" ], "variationId": 285620 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.58139350G>T?assembly=hg19", "id": "chr3:g.58139350G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.58153623G>T?assembly=hg38", "id": "chr3:g.58153623G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886043158", "rs": 886043158 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-58153623-G-T?dataset=gnomad_r4", "id": 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"hgvs": [ "NG_012801.1:g.150224G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002539" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1968, "referenceAllele": "G", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000682297.1:n.1968G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827291" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000682503.1:n.816G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827493" }, { "coordinates": [ { "allele": "T", "end": 6639, "referenceAllele": "G", "start": 6638 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000682871.1:c.6496G>T" ], "proteinEffect": { "hgvs": "ENSP00000507805.1:p.Gly2166Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827859" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000683114.1:n.1287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828099" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "G", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684439.1:n.2927G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829393" }, { "coordinates": [ { "allele": "T", "end": 6878, "referenceAllele": "G", "start": 6877 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684506.1:c.*5169G>T" ], "proteinEffect": { "hgvs": "ENSP00000507728.1:n.*5169G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829460" }, { "coordinates": [ { "allele": "T", "end": 6780, "referenceAllele": "G", "start": 6779 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684607.1:c.6637G>T" ], "proteinEffect": { "hgvs": "ENSP00000508224.1:p.Gly2213Ter", "hgvsWellDefined": "ENSP00000508224.1:p.Gly2213_Ser2270delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyIleGlyIleLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829559" }, { "coordinates": [ { "allele": "T", "end": 6759, "referenceAllele": "G", "start": 6758 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000295956.9:c.6616G>T" ], "proteinEffect": { "hgvs": "ENSP00000295956.5:p.Gly2206Ter", "hgvsWellDefined": "ENSP00000295956.5:p.Gly2206_Pro2602delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295956.9:c.6616G>T" }, "RefSeq": { "hgvs": "NM_001457.4:c.6616G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295956.5:p.Gly2206Ter" }, "RefSeq": { "hgvs": "NP_001448.2:p.Gly2206Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6781, "referenceAllele": "G", "start": 6780 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000295956.8:c.6616G>T" ], "proteinEffect": { "hgvs": "ENSP00000295956.4:p.Gly2206Ter", "hgvsWellDefined": "ENSP00000295956.4:p.Gly2206_Pro2602delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254204" }, { "coordinates": [ { "allele": "T", "end": 6709, "referenceAllele": "G", "start": 6708 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000358537.7:c.6544G>T" ], "proteinEffect": { "hgvs": "ENSP00000351339.3:p.Gly2182Ter", "hgvsWellDefined": "ENSP00000351339.3:p.Gly2182_Pro2578delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264488" }, { "coordinates": [ { "allele": "T", "end": 6748, "referenceAllele": "G", "start": 6747 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000429972.6:c.6583G>T" ], "proteinEffect": { "hgvs": "ENSP00000415599.2:p.Gly2195Ter", "hgvsWellDefined": "ENSP00000415599.2:p.Gly2195_Pro2591delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290916" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000466455.1:c.386G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309825" }, { "coordinates": [ { "allele": "T", "end": 2884, "referenceAllele": "G", "start": 2883 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000481470.5:n.2884G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321372" }, { "coordinates": [ { "allele": "T", "end": 6874, "referenceAllele": "G", "start": 6873 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000490882.5:c.6709G>T" ], "proteinEffect": { "hgvs": "ENSP00000420213.1:p.Gly2237Ter", "hgvsWellDefined": "ENSP00000420213.1:p.Gly2237_Pro2633delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328607" }, { "coordinates": [ { "allele": "T", "end": 6194, "referenceAllele": "G", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000493452.5:c.6037G>T" ], "proteinEffect": { "hgvs": "ENSP00000418510.1:p.Gly2013Ter", "hgvsWellDefined": "ENSP00000418510.1:p.Gly2013_Pro2409delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS330597" }, { "@id": "http://reg.genome.network/allele/PA915988302", "coordinates": [ { "allele": "T", "end": 6874, "referenceAllele": "G", "start": 6873 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164317.1:c.6709G>T" ], "proteinEffect": { "hgvs": "NP_001157789.1:p.Gly2237Ter", "hgvsWellDefined": "NP_001157789.1:p.Gly2237_Pro2633delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014497" }, { "@id": "http://reg.genome.network/allele/PA2825975683", "coordinates": [ { "allele": "T", "end": 6748, "referenceAllele": "G", "start": 6747 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164318.1:c.6583G>T" ], "proteinEffect": { "hgvs": "NP_001157790.1:p.Gly2195Ter", "hgvsWellDefined": "NP_001157790.1:p.Gly2195_Pro2591delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014498" }, { "@id": "http://reg.genome.network/allele/PA2825977166", "coordinates": [ { "allele": "T", "end": 6709, "referenceAllele": "G", "start": 6708 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164319.1:c.6544G>T" ], "proteinEffect": { "hgvs": "NP_001157791.1:p.Gly2182Ter", "hgvsWellDefined": "NP_001157791.1:p.Gly2182_Pro2578delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014499" }, { "@id": "http://reg.genome.network/allele/PA645471366", "coordinates": [ { "allele": "T", "end": 6781, "referenceAllele": "G", "start": 6780 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001457.3:c.6616G>T" ], "proteinEffect": { "hgvs": "NP_001448.2:p.Gly2206Ter", "hgvsWellDefined": "NP_001448.2:p.Gly2206_Pro2602delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026839" }, { "coordinates": [ { "allele": "T", "end": 6821, "referenceAllele": "G", "start": 6820 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264977.1:c.6676G>T" ], "proteinEffect": { "hgvs": "XP_005265034.1:p.Gly2226Ter", "hgvsWellDefined": "XP_005265034.1:p.Gly2226_Pro2622delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064454" }, { "coordinates": [ { "allele": "T", "end": 6782, "referenceAllele": "G", "start": 6781 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.1:c.6637G>T" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Gly2213Ter", "hgvsWellDefined": "XP_005265035.1:p.Gly2213_Pro2609delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064455" }, { "coordinates": [ { "allele": "T", "end": 6782, "referenceAllele": "G", "start": 6781 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.2:c.6637G>T" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Gly2213Ter", "hgvsWellDefined": "XP_005265035.1:p.Gly2213_Pro2609delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535977" }, { "coordinates": [ { "allele": "T", "end": 6924, "referenceAllele": "G", "start": 6923 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XR_001740065.1:n.6924G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590320" }, { "@id": "http://reg.genome.network/allele/PA915988302", "coordinates": [ { "allele": "T", "end": 6852, "referenceAllele": "G", "start": 6851 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164317.2:c.6709G>T" ], "proteinEffect": { "hgvs": "NP_001157789.1:p.Gly2237Ter", "hgvsWellDefined": "NP_001157789.1:p.Gly2237_Pro2633delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678307" }, { "@id": "http://reg.genome.network/allele/PA2825975683", "coordinates": [ { "allele": "T", "end": 6726, "referenceAllele": "G", "start": 6725 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164318.2:c.6583G>T" ], "proteinEffect": { "hgvs": "NP_001157790.1:p.Gly2195Ter", "hgvsWellDefined": "NP_001157790.1:p.Gly2195_Pro2591delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678308" }, { "@id": "http://reg.genome.network/allele/PA2825977166", "coordinates": [ { "allele": "T", "end": 6687, "referenceAllele": "G", "start": 6686 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164319.2:c.6544G>T" ], "proteinEffect": { "hgvs": "NP_001157791.1:p.Gly2182Ter", "hgvsWellDefined": "NP_001157791.1:p.Gly2182_Pro2578delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678309" }, { "@id": "http://reg.genome.network/allele/PA645471366", "coordinates": [ { "allele": "T", "end": 6759, "referenceAllele": "G", "start": 6758 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001457.4:c.6616G>T" ], "proteinEffect": { "hgvs": "NP_001448.2:p.Gly2206Ter", "hgvsWellDefined": "NP_001448.2:p.Gly2206_Pro2602delinsGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295956.9:c.6616G>T" }, "RefSeq": { "hgvs": "NM_001457.4:c.6616G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295956.5:p.Gly2206Ter" }, "RefSeq": { "hgvs": "NP_001448.2:p.Gly2206Ter" } } } } ], "type": "nucleotide" }