{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA343960416", "communityStandardTitle": [ "NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1058498[alleleid]", "alleleId": 1058498, "preferredName": "NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072177", "RCV": [ "RCV001384828" ], "variationId": 1072177 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193104554T>A?assembly=hg19", "id": "chr1:g.193104554T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193135424T>A?assembly=hg38", "id": "chr1:g.193135424T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2103121496", "rs": 2103121496 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 193135424, "referenceAllele": "T", "start": 193135423 } ], "hgvs": [ "NC_000001.11:g.193135424T>A", "CM000663.2:g.193135424T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 193104554, "referenceAllele": "T", "start": 193104553 } ], "hgvs": [ "NC_000001.10:g.193104554T>A", "CM000663.1:g.193104554T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 191371177, "referenceAllele": "T", "start": 191371176 } ], "hgvs": [ "NC_000001.9:g.191371177T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 18467, "referenceAllele": "T", "start": 18466 } ], "hgvs": [ "NG_012691.1:g.18467T>A", "LRG_507:g.18467T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "T", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Leu114Ter", "hgvsWellDefined": "ENSP00000356405.4:p.Leu114_Phe531delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750012", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.341T>A" }, "RefSeq": { "hgvs": "NM_024529.5:c.341T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Leu114Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Leu114Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "T", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000635846.1:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000490035.1:p.Leu114Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762679" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643006.1:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000496633.1:p.Leu114Ter", "hgvsWellDefined": "ENSP00000496633.1:p.Leu114_Ser385delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuArgValHisLeuProGlyArgLeuArgLeuLeuGlnProSerGlnTyrGlnAspGlnPheLeuLysGlnAspLeuProGlnIleArgArgLysAspLeuGluHisProLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767038" }, { "coordinates": [ { "allele": "A", "end": 419, "referenceAllele": "T", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643784.1:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000494944.1:p.Leu114Ter", "hgvsWellDefined": "ENSP00000494944.1:p.Leu114_Val197delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgPheCysValAsnIlePheGlnAspPheHisLeuValThrLysValIlePheLeuSerThrValIleLysValPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767470" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000647662.1:n.242T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769542" }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "T", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000648071.1:c.*317T>A" ], "proteinEffect": { "hgvs": "ENSP00000497513.1:n.*317T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769774" }, { "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "T", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649606.1:n.354T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770629" }, { "coordinates": [ { "allele": "A", "end": 282, "referenceAllele": "T", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649706.1:n.282T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770694" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "T", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649895.1:n.559T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770821" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "T", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000650197.1:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000496929.1:p.Leu114Ter", "hgvsWellDefined": "ENSP00000496929.1:p.Leu114_Leu482delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysAsnAlaGlyMetSerGlyLeuArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770987" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "T", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.3:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000356405.3:p.Leu114Ter", "hgvsWellDefined": "ENSP00000356405.3:p.Leu114_Phe531delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266385" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "T", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000482484.1:n.593T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322165" }, { "@id": "http://reg.genome.network/allele/PA2499290277", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "T", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.4:c.341T>A", "LRG_507t1:c.341T>A" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Leu114Ter", "hgvsWellDefined": "NP_078805.3:p.Leu114_Phe531delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "T", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.341T>A" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Leu114Ter", "hgvsWellDefined": "XP_006711600.1:p.Leu114_Leu347delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069173" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.4:c.341T>A" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Leu114Ter", "hgvsWellDefined": "XP_006711600.1:p.Leu114_Leu347delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538021" }, { "@id": "http://reg.genome.network/allele/PA2499290277", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "T", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.5:c.341T>A" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Leu114Ter", "hgvsWellDefined": "NP_078805.3:p.Leu114_Phe531delinsGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.341T>A" }, "RefSeq": { "hgvs": "NM_024529.5:c.341T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Leu114Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Leu114Ter" } } } } ], "type": "nucleotide" }