{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374597145", "communityStandardTitle": [ "NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017110[alleleid]", "alleleId": 1017110, "preferredName": "NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031005", "RCV": [ "RCV001332720", "RCV001865766" ], "variationId": 1031005 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.117028890G>T?assembly=hg19", "id": "chr9:g.117028890G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.114266610G>T?assembly=hg38", "id": "chr9:g.114266610G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1328051341", "rs": 1328051341 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-117028890-G-T?dataset=gnomad_r2_1", "id": "9-117028890-G-T", "variant": "9:117028890 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114266610-G-T?dataset=gnomad_r3", "id": "9-114266610-G-T", "variant": "9:114266610 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114266610-G-T?dataset=gnomad_r4", "id": "9-114266610-G-T", "variant": "9:114266610 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 114266610, "referenceAllele": "G", "start": 114266609 } ], "hgvs": [ "NC_000009.12:g.114266610G>T", "CM000671.2:g.114266610G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 117028890, "referenceAllele": "G", "start": 117028889 } ], "hgvs": [ "NC_000009.11:g.117028890G>T", "CM000671.1:g.117028890G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 116068711, "referenceAllele": "G", "start": 116068710 } ], "hgvs": [ "NC_000009.10:g.116068711G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 116066, "referenceAllele": "G", "start": 116065 } ], "hgvs": [ "NG_034260.1:g.116066G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005834" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3853, "referenceAllele": "G", "start": 3852 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.8:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Gly1147Ter", "hgvsWellDefined": "ENSP00000348385.3:p.Gly1147_Leu1860delinsProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlyGluGlnGlyGluAspGlyLysAlaGluGlyProProGlyProProGlyAspArgGlyProValGlyAspArgGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748746", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.3439G>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.3439G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Gly1147Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Gly1147Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "G", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.7:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Gly1147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263640" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "G", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000494090.6:c.2332G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331108" }, { "@id": "http://reg.genome.network/allele/PA2499294188", "coordinates": [ { "allele": "T", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "NM_032888.3:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_116277.2:p.Gly1147Ter", "hgvsWellDefined": "NP_116277.2:p.Gly1147_Leu1860delinsProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlyGluGlnGlyGluAspGlyLysAlaGluGlyProProGlyProProGlyAspArgGlyProValGlyAspArgGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039386" }, { "coordinates": [ { "allele": "T", "end": 3859, "referenceAllele": "G", "start": 3858 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717308.2:c.3385G>T" ], "proteinEffect": { "hgvs": "XP_006717371.1:p.Gly1129Ter", "hgvsWellDefined": "XP_006717371.1:p.Gly1129_Leu1842delinsProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlyGluGlnGlyGluAspGlyLysAlaGluGlyProProGlyProProGlyAspArgGlyProValGlyAspArgGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072110" }, { "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717310.2:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_006717373.1:p.Gly374Ter", "hgvsWellDefined": "XP_006717373.1:p.Gly374_Leu1087delinsProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlyGluGlnGlyGluAspGlyLysAlaGluGlyProProGlyProProGlyAspArgGlyProValGlyAspArgGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072111" }, { "coordinates": [ { "allele": "T", "end": 3463, "referenceAllele": "G", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519138.1:c.3433G>T" ], "proteinEffect": { "hgvs": "XP_011517440.1:p.Gly1145Ter", "hgvsWellDefined": "XP_011517440.1:p.Gly1145_Leu1858delinsProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlyGluGlnGlyGluAspGlyLysAlaGluGlyProProGlyProProGlyAspArgGlyProValGlyAspArgGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS671452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.3439G>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.3439G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Gly1147Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Gly1147Ter" } } } } ], "type": "nucleotide" }