{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388781110", "communityStandardTitle": [ "NM_019616.4(F7):c.175C>T (p.Gln59Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1696224[alleleid]", "alleleId": 1696224, "preferredName": "NM_019616.4(F7):c.175C>T (p.Gln59Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1703839", "RCV": [ "RCV002280998" ], "variationId": 1703839 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.113765114C>T?assembly=hg19", "id": "chr13:g.113765114C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.113110800C>T?assembly=hg38", "id": "chr13:g.113110800C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1414353514", "rs": 1414353514 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-113110800-C-T?dataset=gnomad_r4", "id": "13-113110800-C-T", "variant": "13:113110800 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 113110800, "referenceAllele": "C", "start": 113110799 } ], "hgvs": [ "NC_000013.11:g.113110800C>T", "CM000675.2:g.113110800C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 113765114, "referenceAllele": "C", "start": 113765113 } ], "hgvs": [ "NC_000013.10:g.113765114C>T", "CM000675.1:g.113765114C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 112813115, "referenceAllele": "C", "start": 112813114 } ], "hgvs": [ "NC_000013.9:g.112813115C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 10010, "referenceAllele": "C", "start": 10009 } ], "hgvs": [ "NG_009262.1:g.10010C>T", "LRG_554:g.10010C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001527" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000346342.8:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000329546.4:p.Gln59Ter", "hgvsWellDefined": "ENSP00000329546.4:p.Gln59_Pro444delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748316", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000346342.8:c.175C>T" }, "RefSeq": { "hgvs": "NM_019616.4:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000329546.4:p.Gln59Ter" }, "RefSeq": { "hgvs": "NP_062562.1:p.Gln59Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000346342.7:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000329546.3:p.Gln59Ter", "hgvsWellDefined": "ENSP00000329546.3:p.Gln59_Pro444delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262256" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000375581.3:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000364731.3:p.Gln81Ter", "hgvsWellDefined": "ENSP00000364731.3:p.Gln81_Pro466delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270774" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "C", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000444337.1:c.161C>T" ], "proteinEffect": { "hgvs": "ENSP00000387669.1:p.Ala54Val", "hgvsWellDefined": "ENSP00000387669.1:p.Ala54Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS297763" }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000473085.1:n.122C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314917" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000479674.1:n.461C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319994" }, { "coordinates": [ { "allele": "T", "end": 118, "endIntronDirection": "-", "endIntronOffset": 3046, "referenceAllele": "C", "start": 118, "startIntronDirection": "-", "startIntronOffset": 3047 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "ENST00000541084.5:c.65-3047C>T" ], "proteinEffect": { "hgvs": "ENSP00000442051.2:n.65-3047C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362753" }, { "@id": "http://reg.genome.network/allele/PA2580105086", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_000131.4:c.241C>T", "LRG_554t1:c.241C>T" ], "proteinEffect": { "hgvs": "NP_000122.1:p.Gln81Ter", "hgvsWellDefined": "NP_000122.1:p.Gln81_Pro466delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006193" }, { "coordinates": [ { "allele": "T", "end": 118, "endIntronDirection": "-", "endIntronOffset": 3046, "referenceAllele": "C", "start": 118, "startIntronDirection": "-", "startIntronOffset": 3047 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_001267554.1:c.65-3047C>T" ], "proteinEffect": { "hgvs": "NP_001254483.1:n.65-3047C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS020114" }, { "@id": "http://reg.genome.network/allele/PA2829904289", "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_019616.3:c.175C>T", "LRG_554t2:c.175C>T" ], "proteinEffect": { "hgvs": "NP_062562.1:p.Gln59Ter", "hgvsWellDefined": "NP_062562.1:p.Gln59_Pro444delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036135" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "C", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NR_051961.1:n.215C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052332" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_006719963.2:c.175C>T" ], "proteinEffect": { "hgvs": "XP_006720026.1:p.Gln59Ter", "hgvsWellDefined": "XP_006720026.1:p.Gln59_Pro397delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrLeuGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073424" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537474.1:c.175C>T" ], "proteinEffect": { "hgvs": "XP_011535776.1:p.Gln59Ter", "hgvsWellDefined": "XP_011535776.1:p.Gln59_Pro480delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrGlnGluSerProAlaSerTrpArgArgLeuLysArgGluAlaSerCysTrpSerSerGlySerArgMetProGlyAspLeuCysSerAlaLeuValProSerSerProAspLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104438" }, { "coordinates": [ { "allele": "T", "end": 84, "endIntronDirection": "-", "endIntronOffset": 3046, "referenceAllele": "C", "start": 84, "startIntronDirection": "-", "startIntronOffset": 3047 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537475.1:c.65-3047C>T" ], "proteinEffect": { "hgvs": "XP_011535777.1:n.65-3047C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS104439" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537477.1:c.161C>T" ], "proteinEffect": { "hgvs": "XP_011535779.1:p.Ala54Val", "hgvsWellDefined": "XP_011535779.1:p.Ala54Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS104441" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_006719963.3:c.220C>T" ], "proteinEffect": { "hgvs": "XP_006720026.2:p.Gln74Ter", "hgvsWellDefined": "XP_006720026.2:p.Gln74_Pro412delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrLeuGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539990" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537474.2:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011535776.2:p.Gln74Ter", "hgvsWellDefined": "XP_011535776.2:p.Gln74_Pro495delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrGlnGluSerProAlaSerTrpArgArgLeuLysArgGluAlaSerCysTrpSerSerGlySerArgMetProGlyAspLeuCysSerAlaLeuValProSerSerProAspLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552907" }, { "coordinates": [ { "allele": "T", "end": 133, "endIntronDirection": "-", "endIntronOffset": 3046, "referenceAllele": "C", "start": 133, "startIntronDirection": "-", "startIntronOffset": 3047 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537475.2:c.110-3047C>T" ], "proteinEffect": { "hgvs": "XP_011535777.2:n.110-3047C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS552908" }, { "@id": "http://reg.genome.network/allele/PA2829904289", "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_019616.4:c.175C>T" ], "proteinEffect": { "hgvs": "NP_062562.1:p.Gln59Ter", "hgvsWellDefined": "NP_062562.1:p.Gln59_Pro444delinsCysSerPheGluGluAlaArgGluIlePheLysAspAlaGluArgThrLysLeuPheTrpIleSerTyrSerAspGlyAspGlnCysAlaSerSerProCysGlnAsnGlyGlySerCysLysAspGlnLeuGlnSerTyrIleCysPheCysLeuProAlaPheGluGlyArgAsnCysGluThrHisLysAspAspGlnLeuIleCysValAsnGluAsnGlyGlyCysGluGlnTyrCysSerAspHisThrGlyThrLysArgSerCysArgCysHisGluGlyTyrSerLeuLeuAlaAspGlyValSerCysThrProThrValGluTyrProCysGlyLysIleProIleLeuGluLysArgAsnAlaSerLysProGlnGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000346342.8:c.175C>T" }, "RefSeq": { "hgvs": "NM_019616.4:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000329546.4:p.Gln59Ter" }, "RefSeq": { "hgvs": "NP_062562.1:p.Gln59Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 212, "referenceAllele": "C", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NR_051961.2:n.212C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702601" }, { "coordinates": [ { "allele": "T", "end": 115, "endIntronDirection": "-", "endIntronOffset": 3046, "referenceAllele": "C", "start": 115, "startIntronDirection": "-", "startIntronOffset": 3047 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_001267554.2:c.65-3047C>T" ], "proteinEffect": { "hgvs": "NP_001254483.1:n.65-3047C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS715076" } ], "type": "nucleotide" }