{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA121752", "communityStandardTitle": [ "NM_000128.4(F11):c.438C>A (p.Cys146Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26935[alleleid]", "alleleId": 26935, "preferredName": "NM_000128.4(F11):c.438C>A (p.Cys146Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11896", "RCV": [ "RCV000012671", "RCV001228574", "RCV001826459" ], "variationId": 11896 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-187195382-C-A", "id": "4-187195382-C-A", "variant": "4:187195382 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.187195382C>A?assembly=hg19", "id": "chr4:g.187195382C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.186274228C>A?assembly=hg38", "id": "chr4:g.186274228C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121965066", "rs": 121965066 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-187195382-C-A?dataset=gnomad_r2_1", "id": "4-187195382-C-A", "variant": "4:187195382 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-186274228-C-A?dataset=gnomad_r3", "id": "4-186274228-C-A", "variant": "4:186274228 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-186274228-C-A?dataset=gnomad_r4", "id": "4-186274228-C-A", "variant": "4:186274228 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 186274228, "referenceAllele": "C", "start": 186274227 } ], "hgvs": [ "NC_000004.12:g.186274228C>A", "CM000666.2:g.186274228C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 187195382, "referenceAllele": "C", "start": 187195381 } ], "hgvs": [ "NC_000004.11:g.187195382C>A", "CM000666.1:g.187195382C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 187432376, "referenceAllele": "C", "start": 187432375 } ], "hgvs": [ "NC_000004.10:g.187432376C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 13265, "referenceAllele": "C", "start": 13264 } ], "hgvs": [ "NG_008051.1:g.13265C>A", "LRG_583:g.13265C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000807" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000403665.7:c.438C>A" ], "proteinEffect": { "hgvs": "ENSP00000384957.2:p.Cys146Ter", "hgvsWellDefined": "ENSP00000384957.2:p.Cys146_Val625delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754055", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.438C>A" }, "RefSeq": { "hgvs": "NM_000128.4:c.438C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Cys146Ter" }, "RefSeq": { "hgvs": "NP_000119.1:p.Cys146Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 357, "endIntronDirection": "+", "endIntronOffset": 1053, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 1052 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000264692.8:c.323+1053C>A" ], "proteinEffect": { "hgvs": "ENSP00000264692.5:n.323+1053C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS251562" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000403665.6:c.438C>A" ], "proteinEffect": { "hgvs": "ENSP00000384957.2:p.Cys146Ter", "hgvsWellDefined": "ENSP00000384957.2:p.Cys146_Val625delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279867" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000492972.6:c.438C>A" ], "proteinEffect": { "hgvs": "ENSP00000424479.1:p.Cys146Ter", "hgvsWellDefined": "ENSP00000424479.1:p.Cys146_Arg162delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS330232" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000514715.1:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344135" }, { "@id": "http://reg.genome.network/allele/PA121754", "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.3:c.438C>A", "LRG_583t1:c.438C>A" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Cys146Ter", "hgvsWellDefined": "NP_000119.1:p.Cys146_Val625delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006190" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262878.1:p.Cys146_Val626delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063580" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262879.1:p.Cys146_Val594delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063581" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262880.1:p.Cys146_Val536delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063582" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262824.1:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262881.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262881.1:p.Cys146_Lys534delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrGluMetLysSerGlyThrPheSerAlaLeuSerSerHisValAlaGluAlaGlnLeuGluSerHisTyrSerValAlaGlySerGlyLeuIleLysMetGluArgGlnLysSerProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063583" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.1:c.438C>A" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Cys146Ter", "hgvsWellDefined": "XP_006714200.1:p.Cys146_Val610delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070515" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_938706.1:n.790C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133404" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_938707.1:n.790C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133405" }, { "@id": "http://reg.genome.network/allele/PA916039438", "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_001354804.1:c.438C>A" ], "proteinEffect": { "hgvs": "NP_001341733.1:p.Cys146Ter", "hgvsWellDefined": "NP_001341733.1:p.Cys146_Arg162delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522693" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.4:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262878.1:p.Cys146_Val626delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535554" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.4:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262879.1:p.Cys146_Val594delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535555" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.4:c.438C>A" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Cys146Ter", "hgvsWellDefined": "XP_005262880.1:p.Cys146_Val536delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535556" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.3:c.438C>A" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Cys146Ter", "hgvsWellDefined": "XP_006714200.1:p.Cys146_Val610delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538666" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007884.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_016863373.1:p.Cys146Ter", "hgvsWellDefined": "XP_016863373.1:p.Cys146_Ser395delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562523" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007885.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_016863374.1:p.Cys146Ter", "hgvsWellDefined": "XP_016863374.1:p.Cys146_Ser395delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyAsnArgGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562524" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_017007886.2:c.438C>A" ], "proteinEffect": { "hgvs": "XP_016863375.1:p.Cys146Ter", "hgvsWellDefined": "XP_016863375.1:p.Cys146_Ser394delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluLeuArgGlyAlaProMetLysIleSerGlyTrpLeuLysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562525" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XR_001741172.2:n.771C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591211" }, { "@id": "http://reg.genome.network/allele/PA121754", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.4:c.438C>A" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Cys146Ter", "hgvsWellDefined": "NP_000119.1:p.Cys146_Val625delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgAsnIleCysLeuLeuLysHisThrGlnThrGlyThrProThrArgIleThrLysLeuAspLysValValSerGlyPheSerLeuLysSerCysAlaLeuSerAsnLeuAlaCysIleArgAspIlePheProAsnThrValPheAlaAspSerAsnIleAspSerValMetAlaProAspAlaPheValCysGlyArgIleCysThrHisHisProGlyCysLeuPhePheThrPhePheSerGlnGluTrpProLysGluSerGlnArgAsnLeuCysLeuLeuLysThrSerGluSerGlyLeuProSerThrArgIleLysLysSerLysAlaLeuSerGlyPheSerLeuGlnSerCysArgHisSerIleProValPheCysHisSerSerPheTyrHisAspThrAspPheLeuGlyGluGluLeuAspIleValAlaAlaLysSerHisGluAlaCysGlnLysLeuCysThrAsnAlaValArgCysGlnPhePheThrTyrThrProAlaGlnAlaSerCysAsnGluGlyLysGlyLysCysTyrLeuLysLeuSerSerAsnGlySerProThrLysIleLeuHisGlyArgGlyGlyIleSerGlyTyrThrLeuArgLeuCysLysMetAspAsnGluCysThrThrLysIleLysProArgIleValGlyGlyThrAlaSerValArgGlyGluTrpProTrpGlnValThrLeuHisThrThrSerProThrGlnArgHisLeuCysGlyGlySerIleIleGlyAsnGlnTrpIleLeuThrAlaAlaHisCysPheTyrGlyValGluSerProLysIleLeuArgValTyrSerGlyIleLeuAsnGlnSerGluIleLysGluAspThrSerPhePheGlyValGlnGluIleIleIleHisAspGlnTyrLysMetAlaGluSerGlyTyrAspIleAlaLeuLeuLysLeuGluThrThrValAsnTyrThrAspSerGlnArgProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674715", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.438C>A" }, "RefSeq": { "hgvs": "NM_000128.4:c.438C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Cys146Ter" }, "RefSeq": { "hgvs": "NP_000119.1:p.Cys146Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916039438", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_001354804.2:c.438C>A" ], "proteinEffect": { "hgvs": "NP_001341733.1:p.Cys146Ter", "hgvsWellDefined": "NP_001341733.1:p.Cys146_Arg162delinsHisPhePheThrTyrAlaThrArgGlnPheProSerLeuGluHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690322" } ], "type": "nucleotide" }