{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351512194", "communityStandardTitle": [ "NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487042[alleleid]", "alleleId": 487042, "preferredName": "NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496186", "RCV": [ "RCV000587566" ], "variationId": 496186 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12645667T>C?assembly=hg19", "id": "chr3:g.12645667T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12604168T>C?assembly=hg38", "id": "chr3:g.12604168T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553613743", "rs": 1553613743 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12604168, "referenceAllele": "T", "start": 12604167 } ], "hgvs": [ "NC_000003.12:g.12604168T>C", "CM000665.2:g.12604168T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12645667, "referenceAllele": "T", "start": 12645666 } ], "hgvs": [ "NC_000003.11:g.12645667T>C", "CM000665.1:g.12645667T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 12620667, "referenceAllele": "T", "start": 12620666 } ], "hgvs": [ "NC_000003.10:g.12620667T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 65012, "referenceAllele": "A", "start": 65011 } ], "hgvs": [ "NG_007467.1:g.65012A>G", "LRG_413:g.65012A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.2:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000391265.2:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824657" }, { "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "A", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "G", "end": 122, "referenceAllele": "A", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.122A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "G", "end": 393, "referenceAllele": "A", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.393A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "G", "end": 1179, "referenceAllele": "A", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1179A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "A", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "G", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "G", "end": 1127, "referenceAllele": "A", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000508794.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "G", "end": 2507, "referenceAllele": "A", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509968.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000510156.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685959.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000510452.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000510452.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830326" }, { "coordinates": [ { "allele": "G", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.1402A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "G", "end": 1165, "referenceAllele": "A", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1165A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686479.1:n.1173A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830600" }, { "coordinates": [ { "allele": "G", "end": 1103, "referenceAllele": "A", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509767.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "G", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.1038A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509665.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "G", "end": 122, "referenceAllele": "A", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.122A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "A", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.920A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000510255.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "G", "end": 1179, "referenceAllele": "A", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1179A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "G", "end": 1410, "referenceAllele": "A", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1410A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "G", "end": 122, "referenceAllele": "A", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.122A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "A", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1128A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "A", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000509612.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "G", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*380A>G" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*380A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "G", "end": 1033, "referenceAllele": "A", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.1033A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "A", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689033.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000508983.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000508983.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS831951" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "A", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "G", "end": 1136, "referenceAllele": "A", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000510213.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "A", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "G", "end": 822, "referenceAllele": "A", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "G", "end": 952, "referenceAllele": "A", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.952A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "G", "end": 1129, "referenceAllele": "A", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000508535.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "G", "end": 1146, "referenceAllele": "A", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509847.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000508730.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509106.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "G", "end": 1105, "referenceAllele": "A", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1105A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "G", "end": 261, "endIntronDirection": "-", "endIntronOffset": 3752, "referenceAllele": "A", "start": 261, "startIntronDirection": "-", "startIntronOffset": 3753 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.262-3753A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "G", "end": 1178, "referenceAllele": "A", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*595A>G" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*595A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "G", "end": 1127, "referenceAllele": "A", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509255.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "G", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*380A>G" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*380A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "G", "end": 968, "referenceAllele": "A", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000508763.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "G", "end": 1136, "referenceAllele": "A", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000509669.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "A", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1175A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "G", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1167A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "G", "end": 993, "referenceAllele": "A", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "G", "end": 783, "referenceAllele": "A", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*547A>G" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*547A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "G", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.703A>G" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Thr235Ala", "hgvsWellDefined": "ENSP00000510072.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "G", "end": 878, "referenceAllele": "A", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.577A>G" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Thr193Ala", "hgvsWellDefined": "ENSP00000508686.1:p.Thr193Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "G", "end": 1111, "referenceAllele": "A", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Thr268Ala", "hgvsWellDefined": "ENSP00000509614.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "G", "end": 789, "referenceAllele": "A", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Thr268Ala", "hgvsWellDefined": "ENSP00000251849.4:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.802A>G" }, "RefSeq": { "hgvs": "NM_002880.4:c.802A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Thr268Ala" }, "RefSeq": { "hgvs": "NP_002871.1:p.Thr268Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Thr268Ala", "hgvsWellDefined": "ENSP00000401888.2:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "G", "end": 1242, "referenceAllele": "A", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Thr268Ala", "hgvsWellDefined": "ENSP00000251849.4:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "G", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*380A>G" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*380A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*479A>G" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*479A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "G", "end": 439, "referenceAllele": "A", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.439A>G" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Thr147Ala", "hgvsWellDefined": "ENSP00000398591.2:p.Thr147Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "G", "end": 1164, "referenceAllele": "A", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.802A>G" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Thr268Ala", "hgvsWellDefined": "ENSP00000401888.2:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "G", "end": 46, "referenceAllele": "A", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.5:n.46A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309348" }, { "coordinates": [ { "allele": "G", "end": 323, "referenceAllele": "A", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.1:n.323A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS328920" }, { "@id": "http://reg.genome.network/allele/PA658742944", "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.802A>G", "LRG_413t1:c.802A>G" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Thr268Ala", "hgvsWellDefined": "NP_002871.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "A", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.802A>G" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Thr268Ala", "hgvsWellDefined": "XP_005265412.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.703A>G" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Thr235Ala", "hgvsWellDefined": "XP_005265414.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "G", "end": 1099, "referenceAllele": "A", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.559A>G" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Thr187Ala", "hgvsWellDefined": "XP_005265415.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "G", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.460A>G" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Thr154Ala", "hgvsWellDefined": "XP_005265416.1:p.Thr154Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.802A>G" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Thr268Ala", "hgvsWellDefined": "XP_005265417.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "G", "end": 1258, "referenceAllele": "A", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.802A>G" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Thr268Ala", "hgvsWellDefined": "XP_011532276.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "A", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Thr187Ala", "hgvsWellDefined": "XP_011532277.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "@id": "http://reg.genome.network/allele/PA2827917131", "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.802A>G" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Thr268Ala", "hgvsWellDefined": "NP_001341618.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "@id": "http://reg.genome.network/allele/PA2827917550", "coordinates": [ { "allele": "G", "end": 968, "referenceAllele": "A", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.802A>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr268Ala", "hgvsWellDefined": "NP_001341619.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "@id": "http://reg.genome.network/allele/PA2827918152", "coordinates": [ { "allele": "G", "end": 1197, "referenceAllele": "A", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341620.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "@id": "http://reg.genome.network/allele/PA2827918756", "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "A", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341621.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "@id": "http://reg.genome.network/allele/PA2827919411", "coordinates": [ { "allele": "G", "end": 1118, "referenceAllele": "A", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.703A>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr235Ala", "hgvsWellDefined": "NP_001341622.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "@id": "http://reg.genome.network/allele/PA2827920015", "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "A", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341623.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "@id": "http://reg.genome.network/allele/PA2827920522", "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.460A>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr154Ala", "hgvsWellDefined": "NP_001341624.1:p.Thr154Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1217A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1217A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1217A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "G", "end": 1226, "referenceAllele": "A", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.802A>G" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Thr268Ala", "hgvsWellDefined": "XP_011532276.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "G", "end": 822, "referenceAllele": "A", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.703A>G" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Thr235Ala", "hgvsWellDefined": "XP_016862455.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.1034A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "@id": "http://reg.genome.network/allele/PA2827917131", "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.802A>G" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Thr268Ala", "hgvsWellDefined": "NP_001341618.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "@id": "http://reg.genome.network/allele/PA2827917550", "coordinates": [ { "allele": "G", "end": 968, "referenceAllele": "A", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.802A>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr268Ala", "hgvsWellDefined": "NP_001341619.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "@id": "http://reg.genome.network/allele/PA2827918152", "coordinates": [ { "allele": "G", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341620.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "@id": "http://reg.genome.network/allele/PA2827918756", "coordinates": [ { "allele": "G", "end": 1020, "referenceAllele": "A", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341621.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "@id": "http://reg.genome.network/allele/PA2827919411", "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.703A>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr235Ala", "hgvsWellDefined": "NP_001341622.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "@id": "http://reg.genome.network/allele/PA2827920015", "coordinates": [ { "allele": "G", "end": 1020, "referenceAllele": "A", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341623.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "@id": "http://reg.genome.network/allele/PA2827920522", "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.460A>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr154Ala", "hgvsWellDefined": "NP_001341624.1:p.Thr154Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "@id": "http://reg.genome.network/allele/PA2827917550", "coordinates": [ { "allele": "G", "end": 968, "referenceAllele": "A", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.802A>G" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr268Ala", "hgvsWellDefined": "NP_001341619.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "@id": "http://reg.genome.network/allele/PA2827918152", "coordinates": [ { "allele": "G", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341620.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "@id": "http://reg.genome.network/allele/PA2827918756", "coordinates": [ { "allele": "G", "end": 1020, "referenceAllele": "A", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341621.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "@id": "http://reg.genome.network/allele/PA2827919411", "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.703A>G" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr235Ala", "hgvsWellDefined": "NP_001341622.1:p.Thr235Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "@id": "http://reg.genome.network/allele/PA2827920015", "coordinates": [ { "allele": "G", "end": 1020, "referenceAllele": "A", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr187Ala", "hgvsWellDefined": "NP_001341623.1:p.Thr187Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "@id": "http://reg.genome.network/allele/PA2827920522", "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.460A>G" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr154Ala", "hgvsWellDefined": "NP_001341624.1:p.Thr154Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA658742944", "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.802A>G" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Thr268Ala", "hgvsWellDefined": "NP_002871.1:p.Thr268Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.802A>G" }, "RefSeq": { "hgvs": "NM_002880.4:c.802A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Thr268Ala" }, "RefSeq": { "hgvs": "NP_002871.1:p.Thr268Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "G", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }