{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3163793", "communityStandardTitle": [ "NM_000128.4(F11):c.841C>T (p.Gln281Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443610[alleleid]", "alleleId": 443610, "preferredName": "NM_000128.4(F11):c.841C>T (p.Gln281Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449563", "RCV": [ "RCV000521205", "RCV000763124", "RCV001273720" ], "variationId": 449563 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-187201251-C-T", "id": "4-187201251-C-T", "variant": "4:187201251 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.187201251C>T?assembly=hg19", "id": "chr4:g.187201251C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.186280097C>T?assembly=hg38", "id": "chr4:g.186280097C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/770505620", "rs": 770505620 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-187201251-C-T?dataset=gnomad_r2_1", "id": "4-187201251-C-T", "variant": "4:187201251 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-186280097-C-T?dataset=gnomad_r3", "id": "4-186280097-C-T", "variant": "4:186280097 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-186280097-C-T?dataset=gnomad_r4", "id": "4-186280097-C-T", "variant": "4:186280097 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 186280097, "referenceAllele": "C", "start": 186280096 } ], "hgvs": [ "NC_000004.12:g.186280097C>T", "CM000666.2:g.186280097C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 187201251, "referenceAllele": "C", "start": 187201250 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754055", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.841C>T" }, "RefSeq": { "hgvs": "NM_000128.4:c.841C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Gln281Ter" }, "RefSeq": { "hgvs": "NP_000119.1:p.Gln281Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000264692.8:c.679C>T" ], "proteinEffect": { "hgvs": "ENSP00000264692.5:p.Gln227Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251562" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000403665.6:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000384957.2:p.Gln281Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS279867" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000452239.1:c.288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS301534" }, { "@id": "http://reg.genome.network/allele/PA658659831", "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.3:c.841C>T", "LRG_583t1:c.841C>T" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Gln281Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006190" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Gln281Ter", "hgvsWellDefined": "XP_005262878.1:p.Gln281_Val626delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063580" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Gln281Ter", "hgvsWellDefined": "XP_005262879.1:p.Gln281_Val594delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063581" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.2:c.571C>T" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Gln191Ter", "hgvsWellDefined": "XP_005262880.1:p.Gln191_Val536delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063582" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262824.1:c.841C>T" ], "proteinEffect": { "hgvs": "XP_005262881.1:p.Gln281Ter", "hgvsWellDefined": "XP_005262881.1:p.Gln281_Lys534delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrGluMetLysSerGlyThrPheSerAlaLeuSerSerHisValAlaGluAlaGlnLeuGluSerHisTyrSerValAlaGlySerGlyLeuIleLysMetGluArgGlnLysSerProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063583" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.1:c.841C>T" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Gln281Ter", "hgvsWellDefined": "XP_006714200.1:p.Gln281_Val610delinsSerCysArgHisSerIleProGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070515" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_938706.1:n.1193C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133404" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_938707.1:n.1193C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133405" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.4:c.841C>T" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Gln281Ter", "hgvsWellDefined": "XP_005262878.1:p.Gln281_Val626delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535554" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.4:c.841C>T" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Gln281Ter", "hgvsWellDefined": "XP_005262879.1:p.Gln281_Val594delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535555" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.4:c.571C>T" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Gln191Ter", "hgvsWellDefined": "XP_005262880.1:p.Gln191_Val536delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535556" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.3:c.841C>T" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Gln281Ter", "hgvsWellDefined": "XP_006714200.1:p.Gln281_Val610delinsSerCysArgHisSerIleProGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538666" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007884.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_016863373.1:p.Gln281Ter", "hgvsWellDefined": "XP_016863373.1:p.Gln281_Ser395delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562523" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007885.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_016863374.1:p.Gln281Ter", "hgvsWellDefined": "XP_016863374.1:p.Gln281_Ser395delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562524" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007886.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_016863375.1:p.Gln281Ter", "hgvsWellDefined": "XP_016863375.1:p.Gln281_Ser394delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562525" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_001741172.2:n.1174C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591211" }, { "@id": "http://reg.genome.network/allele/PA658659831", "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.4:c.841C>T" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Gln281Ter", "hgvsWellDefined": "NP_000119.1:p.Gln281_Val625delinsSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674715", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.841C>T" }, "RefSeq": { "hgvs": "NM_000128.4:c.841C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Gln281Ter" }, "RefSeq": { "hgvs": "NP_000119.1:p.Gln281Ter" } } } } ], "type": "nucleotide" }