{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5410616", "communityStandardTitle": [ "NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620347[alleleid]", "alleleId": 620347, "preferredName": "NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631627", "RCV": [ "RCV000778274", "RCV001105536", "RCV001869132" ], "variationId": 631627 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-13154486-G-T", "id": "10-13154486-G-T", "variant": "10:13154486 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.13154486G>T?assembly=hg19", "id": "chr10:g.13154486G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.13112486G>T?assembly=hg38", "id": "chr10:g.13112486G>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS272190" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378764.6:c.403G>T" ], "proteinEffect": { "hgvs": "ENSP00000368040.1:p.Glu135Ter", "hgvsWellDefined": 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"NP_001008212.1:p.Glu135_Ile577delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007962" }, { "@id": "http://reg.genome.network/allele/PA2825290260", "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008212.1:c.403G>T" ], "proteinEffect": { "hgvs": "NP_001008213.1:p.Glu135Ter", "hgvsWellDefined": "NP_001008213.1:p.Glu135_Ile577delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007963" }, { "@id": "http://reg.genome.network/allele/PA2825290512", "coordinates": [ { "allele": "T", "end": 841, "referenceAllele": "G", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008213.1:c.403G>T" ], "proteinEffect": { "hgvs": "NP_001008214.1:p.Glu135Ter", "hgvsWellDefined": "NP_001008214.1:p.Glu135_Ile577delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007964" }, { "@id": "http://reg.genome.network/allele/PA913196723", "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_021980.4:c.403G>T" ], "proteinEffect": { "hgvs": "NP_068815.2:p.Glu135Ter", "hgvsWellDefined": "NP_068815.2:p.Glu135_Ile577delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037130" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252336.2:c.403G>T" ], "proteinEffect": { "hgvs": "XP_005252393.2:p.Glu135Ter", "hgvsWellDefined": "XP_005252393.2:p.Glu135_Ile571delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059904" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252337.3:c.403G>T" ], "proteinEffect": { "hgvs": "XP_005252394.2:p.Glu135Ter", "hgvsWellDefined": "XP_005252394.2:p.Glu135_Ile571delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059905" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252338.2:c.232G>T" ], "proteinEffect": { "hgvs": "XP_005252395.2:p.Glu78Ter", "hgvsWellDefined": "XP_005252395.2:p.Glu78_Ile520delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059906" }, { "@id": "http://reg.genome.network/allele/PA2825290260", "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008212.2:c.403G>T" ], "proteinEffect": { "hgvs": "NP_001008213.1:p.Glu135Ter", "hgvsWellDefined": "NP_001008213.1:p.Glu135_Ile577delinsAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378747.8:c.403G>T" }, "RefSeq": { "hgvs": "NM_001008212.2:c.403G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368021.3:p.Glu135Ter" }, "RefSeq": { "hgvs": "NP_001008213.1:p.Glu135Ter" } } } } ], "type": "nucleotide" }