{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA432274360", "communityStandardTitle": [ "NM_002880.4(RAF1):c.699T>G (p.Ser233=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12645770A>C?assembly=hg19", "id": "chr3:g.12645770A>C" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12604271, "referenceAllele": "A", "start": 12604270 } ], "hgvs": [ "NC_000003.12:g.12604271A>C", "CM000665.2:g.12604271A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12645770, "referenceAllele": "A", "start": 12645769 } ], "hgvs": [ "NC_000003.11:g.12645770A>C", "CM000665.1:g.12645770A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12620770, "referenceAllele": "A", "start": 12620769 } ], "hgvs": [ "NC_000003.10:g.12620770A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 64909, "referenceAllele": "T", "start": 64908 } ], "hgvs": [ "NG_007467.1:g.64909T>G", "LRG_413:g.64909T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 666, "referenceAllele": "T", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.2:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000391265.2:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824657" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "T", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "G", "end": 19, "referenceAllele": "T", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.19T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "G", "end": 290, "referenceAllele": "T", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.290T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "G", "end": 1076, "referenceAllele": "T", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1076T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "T", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "G", "end": 935, "referenceAllele": "T", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "G", "end": 1024, "referenceAllele": "T", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "G", "end": 2404, "referenceAllele": "T", "start": 2403 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "G", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685959.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000510452.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830326" }, { "coordinates": [ { "allele": "G", "end": 1299, "referenceAllele": "T", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.1299T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "G", "end": 1062, "referenceAllele": "T", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1062T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "G", "end": 1070, "referenceAllele": "T", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686479.1:n.1070T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830600" }, { "coordinates": [ { "allele": "G", "end": 1000, "referenceAllele": "T", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "G", "end": 935, "referenceAllele": "T", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.935T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "G", "end": 19, "referenceAllele": "T", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.19T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "T", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.817T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "G", "end": 1076, "referenceAllele": "T", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1076T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "T", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1307T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "G", "end": 19, "referenceAllele": "T", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.19T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "T", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1025T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "T", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "G", "end": 790, "referenceAllele": "T", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*277T>G" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*277T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "G", "end": 930, "referenceAllele": "T", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.930T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "G", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689033.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000508983.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831951" }, { "coordinates": [ { "allele": "G", "end": 759, "referenceAllele": "T", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "G", "end": 1033, "referenceAllele": "T", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "G", "end": 922, "referenceAllele": "T", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "T", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "G", "end": 849, "referenceAllele": "T", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.849T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "G", "end": 1026, "referenceAllele": "T", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "T", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1002T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "G", "end": 261, "endIntronDirection": "-", "endIntronOffset": 3855, "referenceAllele": "T", "start": 261, "startIntronDirection": "-", "startIntronOffset": 3856 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.262-3856T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "G", "end": 1075, "referenceAllele": "T", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*492T>G" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*492T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "G", "end": 1024, "referenceAllele": "T", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "G", "end": 826, "referenceAllele": "T", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*277T>G" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*277T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "T", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "G", "end": 1033, "referenceAllele": "T", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "G", "end": 1072, "referenceAllele": "T", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1072T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "G", "end": 1064, "referenceAllele": "T", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1064T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "G", "end": 890, "referenceAllele": "T", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "G", "end": 680, "referenceAllele": "T", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*444T>G" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*444T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "T", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.600T>G" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.474T>G" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Ser158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "G", "end": 1008, "referenceAllele": "T", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "G", "end": 686, "referenceAllele": "T", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.699T>G" }, "RefSeq": { "hgvs": "NM_002880.4:c.699T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ser233=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ser233=" } } } }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "G", "end": 1139, "referenceAllele": "T", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "G", "end": 826, "referenceAllele": "T", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*277T>G" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*277T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*376T>G" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*376T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "G", "end": 336, "referenceAllele": "T", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.336T>G" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Ser112=" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "G", "end": 1061, "referenceAllele": "T", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.699T>G" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "G", "end": 220, "referenceAllele": "T", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.1:n.220T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS328920" }, { "@id": "http://reg.genome.network/allele/PA2829394573", "coordinates": [ { "allele": "G", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.699T>G", "LRG_413t1:c.699T>G" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "G", "end": 842, "referenceAllele": "T", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.699T>G" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.600T>G" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "T", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.456T>G" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "G", "end": 897, "referenceAllele": "T", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.357T>G" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Ser119=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.699T>G" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "G", "end": 1155, "referenceAllele": "T", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.699T>G" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.456T>G" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "@id": "http://reg.genome.network/allele/PA2827917068", "coordinates": [ { "allele": "G", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.699T>G" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "@id": "http://reg.genome.network/allele/PA2827917486", "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "T", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.699T>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "@id": "http://reg.genome.network/allele/PA2827918089", "coordinates": [ { "allele": "G", "end": 1094, "referenceAllele": "T", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "@id": "http://reg.genome.network/allele/PA2827918694", "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "T", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "@id": "http://reg.genome.network/allele/PA2827919347", "coordinates": [ { "allele": "G", "end": 1015, "referenceAllele": "T", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.600T>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "@id": "http://reg.genome.network/allele/PA2827919952", "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "T", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "@id": "http://reg.genome.network/allele/PA2827920459", "coordinates": [ { "allele": "G", "end": 902, "referenceAllele": "T", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.357T>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser119=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "G", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1114T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "G", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1114T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "G", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1114T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "G", "end": 1123, "referenceAllele": "T", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.699T>G" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "T", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.600T>G" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.931T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "@id": "http://reg.genome.network/allele/PA2827917068", "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.699T>G" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "@id": "http://reg.genome.network/allele/PA2827917486", "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "T", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.699T>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "@id": "http://reg.genome.network/allele/PA2827918089", "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "@id": "http://reg.genome.network/allele/PA2827918694", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "T", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "@id": "http://reg.genome.network/allele/PA2827919347", "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.600T>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "@id": "http://reg.genome.network/allele/PA2827919952", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "T", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "@id": "http://reg.genome.network/allele/PA2827920459", "coordinates": [ { "allele": "G", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.357T>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser119=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "@id": "http://reg.genome.network/allele/PA2827917486", "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "T", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.699T>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "@id": "http://reg.genome.network/allele/PA2827918089", "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "@id": "http://reg.genome.network/allele/PA2827918694", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "T", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "@id": "http://reg.genome.network/allele/PA2827919347", "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.600T>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser200=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "@id": "http://reg.genome.network/allele/PA2827919952", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "T", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.456T>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser152=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "@id": "http://reg.genome.network/allele/PA2827920459", "coordinates": [ { "allele": "G", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.357T>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser119=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA2829394573", "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.699T>G" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ser233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.699T>G" }, "RefSeq": { "hgvs": "NM_002880.4:c.699T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ser233=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ser233=" } } } }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1030T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }