{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA143804", "communityStandardTitle": [ "NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59838[alleleid]", "alleleId": 59838, "preferredName": "NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50852", "RCV": [ "RCV000043591", "RCV003234545" ], "variationId": 50852 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38272117C>T?assembly=hg19", "id": "chr8:g.38272117C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38414599C>T?assembly=hg38", "id": "chr8:g.38414599C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397515446", "rs": 397515446 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 38414599, "referenceAllele": "C", "start": 38414598 } ], "hgvs": [ "NC_000008.11:g.38414599C>T", "CM000670.2:g.38414599C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 38272117, "referenceAllele": "C", "start": 38272116 } ], "hgvs": [ "NC_000008.10:g.38272117C>T", "CM000670.1:g.38272117C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 38391274, "referenceAllele": "C", "start": 38391273 } ], "hgvs": [ "NC_000008.9:g.38391274C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 59236, "referenceAllele": "G", "start": 59235 } ], "hgvs": [ "NG_007729.1:g.59236G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000703405.1:c.2008G>A" ], "proteinEffect": { "hgvs": "ENSP00000515291.1:p.Glu670Lys", "hgvsWellDefined": "ENSP00000515291.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS911687" }, { "coordinates": [ { "allele": "A", "end": 2705, "referenceAllele": "G", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.9:c.1996G>A" ], "proteinEffect": { "hgvs": "ENSP00000340636.7:p.Glu666Lys", "hgvsWellDefined": "ENSP00000340636.7:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824009" }, { "coordinates": [ { "allele": "A", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.8:c.1996G>A" ], "proteinEffect": { "hgvs": "ENSP00000393312.4:p.Glu666Lys", "hgvsWellDefined": "ENSP00000393312.4:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824777" }, { "coordinates": [ { "allele": "A", "end": 2901, "referenceAllele": "G", "start": 2900 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000524528.2:n.2901G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825692" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000682398.1:n.979G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827390" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683132.1:n.698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828117" }, { "coordinates": [ { "allele": "A", "end": 2897, "referenceAllele": "G", "start": 2896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683765.1:c.2188G>A" ], "proteinEffect": { "hgvs": "ENSP00000507039.1:p.Glu730Lys", "hgvsWellDefined": "ENSP00000507039.1:p.Glu730Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828736" }, { "coordinates": [ { "allele": "A", "end": 2737, "referenceAllele": "G", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683815.1:c.1996G>A" ], "proteinEffect": { "hgvs": "ENSP00000507997.1:p.Glu666Lys", "hgvsWellDefined": "ENSP00000507997.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828784" }, { "coordinates": [ { "allele": "A", "end": 2696, "referenceAllele": "G", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683948.1:n.2696G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828913" }, { "coordinates": [ { "allele": "A", "end": 2470, "referenceAllele": "G", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000684654.1:c.1729G>A" ], "proteinEffect": { "hgvs": "ENSP00000507205.1:p.Glu577Lys", "hgvsWellDefined": "ENSP00000507205.1:p.Glu577Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829605" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.7:c.2008G>A" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Glu670Lys", "hgvsWellDefined": "ENSP00000400162.2:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.2008G>A" }, "RefSeq": { "hgvs": "NM_023110.3:c.2008G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Glu670Lys" }, "RefSeq": { "hgvs": "NP_075598.2:p.Glu670Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 2168, "referenceAllele": "G", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000649678.1:c.1996G>A" ], "proteinEffect": { "hgvs": "ENSP00000497266.1:p.Glu666Lys", "hgvsWellDefined": "ENSP00000497266.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS770674" }, { "coordinates": [ { "allele": "A", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674189.1:c.*1654G>A" ], "proteinEffect": { "hgvs": "ENSP00000501345.1:n.*1654G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774201" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674380.1:c.*1975G>A" ], "proteinEffect": { "hgvs": "ENSP00000501514.1:n.*1975G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774355" }, { "coordinates": [ { "allele": "A", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674474.1:n.3502G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774438" }, { "coordinates": [ { "allele": "A", "end": 2459, "referenceAllele": "G", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000326324.10:c.1735G>A" ], "proteinEffect": { "hgvs": "ENSP00000327229.6:p.Glu579Lys", "hgvsWellDefined": "ENSP00000327229.6:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS258606" }, { "coordinates": [ { "allele": "A", "end": 2799, "referenceAllele": "G", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000335922.9:c.1978G>A" ], "proteinEffect": { "hgvs": "ENSP00000337247.5:p.Glu660Lys", "hgvsWellDefined": "ENSP00000337247.5:p.Glu660Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS260217" }, { "coordinates": [ { "allele": "A", "end": 3104, "referenceAllele": "G", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.8:c.*1058G>A" ], "proteinEffect": { "hgvs": "ENSP00000340636.6:n.*1058G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS261340" }, { "coordinates": [ { "allele": "A", "end": 2465, "referenceAllele": "G", "start": 2464 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000356207.9:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000348537.5:p.Glu581Lys", "hgvsWellDefined": "ENSP00000348537.5:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263687" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397091.9:c.2002G>A" ], "proteinEffect": { "hgvs": "ENSP00000380280.5:p.Glu668Lys", "hgvsWellDefined": "ENSP00000380280.5:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277607" }, { "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397103.5:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000380292.1:p.Glu581Lys", "hgvsWellDefined": "ENSP00000380292.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277617" }, { "coordinates": [ { "allele": "A", "end": 2303, "referenceAllele": "G", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397108.8:c.2002G>A" ], "proteinEffect": { "hgvs": "ENSP00000380297.4:p.Glu668Lys", "hgvsWellDefined": "ENSP00000380297.4:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277620" }, { "coordinates": [ { "allele": "A", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397113.6:c.2002G>A" ], "proteinEffect": { "hgvs": "ENSP00000380302.2:p.Glu668Lys", "hgvsWellDefined": "ENSP00000380302.2:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277625" }, { "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "G", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.7:c.2101G>A" ], "proteinEffect": { "hgvs": "ENSP00000393312.3:p.Glu701Lys", "hgvsWellDefined": "ENSP00000393312.3:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS289006" }, { "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.6:c.2008G>A" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Glu670Lys", "hgvsWellDefined": "ENSP00000400162.2:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS299382" }, { "coordinates": [ { "allele": "A", "end": 4287, "referenceAllele": "G", "start": 4286 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000526570.5:n.4287G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352416" }, { "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000531196.5:c.208G>A" ], "proteinEffect": { "hgvs": "ENSP00000434800.1:p.Glu70Lys", "hgvsWellDefined": "ENSP00000434800.1:p.Glu70Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS356330" }, { "coordinates": [ { "allele": "A", "end": 2732, "referenceAllele": "G", "start": 2731 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000532791.5:c.2002G>A" ], "proteinEffect": { "hgvs": "ENSP00000432972.1:p.Glu668Lys", "hgvsWellDefined": "ENSP00000432972.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS357662" }, { "coordinates": [ { "allele": "A", "end": 2532, "referenceAllele": "G", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000619564.3:c.*903G>A" ], "proteinEffect": { "hgvs": "ENSP00000484553.1:n.*903G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS404436" }, { "@id": "http://reg.genome.network/allele/PA2826098894", "coordinates": [ { "allele": "A", "end": 2944, "referenceAllele": "G", "start": 2943 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.1:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Glu668Lys", "hgvsWellDefined": "NP_001167534.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015643" }, { "@id": "http://reg.genome.network/allele/PA2826099651", "coordinates": [ { "allele": "A", "end": 3012, "referenceAllele": "G", "start": 3011 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.1:c.1978G>A" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Glu660Lys", "hgvsWellDefined": "NP_001167535.1:p.Glu660Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015644" }, { "@id": "http://reg.genome.network/allele/PA2826100568", "coordinates": [ { "allele": "A", "end": 2264, "referenceAllele": "G", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.1:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Glu668Lys", "hgvsWellDefined": "NP_001167536.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015645" }, { "@id": "http://reg.genome.network/allele/PA2826101448", "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Glu581Lys", "hgvsWellDefined": "NP_001167537.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015646" }, { "@id": "http://reg.genome.network/allele/PA915993632", "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "G", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.1:c.2101G>A" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Glu701Lys", "hgvsWellDefined": "NP_001167538.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015647" }, { "@id": "http://reg.genome.network/allele/PA2829853502", "coordinates": [ { "allele": "A", "end": 2944, "referenceAllele": "G", "start": 2943 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.3:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Glu668Lys", "hgvsWellDefined": "NP_056934.2:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS034242" }, { "@id": "http://reg.genome.network/allele/PA2830018686", "coordinates": [ { "allele": "A", "end": 2683, "referenceAllele": "G", "start": 2682 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Glu581Lys", "hgvsWellDefined": "NP_075593.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037565" }, { "@id": "http://reg.genome.network/allele/PA2830019391", "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "G", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.2:c.1735G>A" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Glu579Lys", "hgvsWellDefined": "NP_075594.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037566" }, { "@id": "http://reg.genome.network/allele/PA112423", "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.2:c.2008G>A" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Glu670Lys", "hgvsWellDefined": "NP_075598.2:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037567" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.2:c.2008G>A" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Glu670Lys", "hgvsWellDefined": "XP_006716366.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071594" }, { "coordinates": [ { "allele": "A", "end": 2267, "referenceAllele": "G", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716304.1:c.2008G>A" ], "proteinEffect": { "hgvs": "XP_006716367.1:p.Glu670Lys", "hgvsWellDefined": "XP_006716367.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071595" }, { "coordinates": [ { "allele": "A", "end": 2275, "referenceAllele": "G", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716305.2:c.2008G>A" ], "proteinEffect": { "hgvs": "XP_006716368.1:p.Glu670Lys", "hgvsWellDefined": "XP_006716368.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071596" }, { "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716306.2:c.2002G>A" ], "proteinEffect": { "hgvs": "XP_006716369.1:p.Glu668Lys", "hgvsWellDefined": "XP_006716369.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071597" }, { "coordinates": [ { "allele": "A", "end": 2261, "referenceAllele": "G", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716307.1:c.2002G>A" ], "proteinEffect": { "hgvs": "XP_006716370.1:p.Glu668Lys", "hgvsWellDefined": "XP_006716370.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071598" }, { "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716309.2:c.1984G>A" ], "proteinEffect": { "hgvs": "XP_006716372.1:p.Glu662Lys", "hgvsWellDefined": "XP_006716372.1:p.Glu662Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071599" }, { "coordinates": [ { "allele": "A", "end": 2484, "referenceAllele": "G", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.2:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Glu581Lys", "hgvsWellDefined": "XP_006716373.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071600" }, { "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "G", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716311.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006716374.1:p.Glu581Lys", "hgvsWellDefined": "XP_006716374.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071601" }, { "coordinates": [ { "allele": "A", "end": 1952, "referenceAllele": "G", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Glu581Lys", "hgvsWellDefined": "XP_006716375.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071602" }, { "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716313.2:c.1735G>A" ], "proteinEffect": { "hgvs": "XP_006716376.1:p.Glu579Lys", "hgvsWellDefined": "XP_006716376.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071603" }, { "coordinates": [ { "allele": "A", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.1:c.1735G>A" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Glu579Lys", "hgvsWellDefined": "XP_006716377.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071604" }, { "coordinates": [ { "allele": "A", "end": 2251, "referenceAllele": "G", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.1:c.2107G>A" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Glu703Lys", "hgvsWellDefined": "XP_011542745.1:p.Glu703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111354" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544444.1:c.2101G>A" ], "proteinEffect": { "hgvs": "XP_011542746.1:p.Glu701Lys", "hgvsWellDefined": "XP_011542746.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111355" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.1:c.2101G>A" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Glu701Lys", "hgvsWellDefined": "XP_011542747.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111356" }, { "coordinates": [ { "allele": "A", "end": 2251, "referenceAllele": "G", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.1:c.2107G>A" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Glu703Lys", "hgvsWellDefined": "XP_011542748.1:p.Glu703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111357" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.1:c.2101G>A" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Glu701Lys", "hgvsWellDefined": "XP_011542749.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111358" }, { "coordinates": [ { "allele": "A", "end": 1855, "referenceAllele": "G", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544448.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011542750.1:p.Glu614Lys", "hgvsWellDefined": "XP_011542750.1:p.Glu614Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111359" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544449.1:c.1834G>A" ], "proteinEffect": { "hgvs": "XP_011542751.1:p.Glu612Lys", "hgvsWellDefined": "XP_011542751.1:p.Glu612Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111360" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.1:c.1834G>A" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Glu612Lys", "hgvsWellDefined": "XP_011542752.1:p.Glu612Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111361" }, { "coordinates": [ { "allele": "A", "end": 1718, "referenceAllele": "G", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544451.1:c.1717G>A" ], "proteinEffect": { "hgvs": "XP_011542753.1:p.Glu573Lys", "hgvsWellDefined": "XP_011542753.1:p.Glu573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111362" }, { "@id": "http://reg.genome.network/allele/PA2827847362", "coordinates": [ { "allele": "A", "end": 2944, "referenceAllele": "G", "start": 2943 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.1:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Glu668Lys", "hgvsWellDefined": "NP_001341296.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522356" }, { "@id": "http://reg.genome.network/allele/PA2827847825", "coordinates": [ { "allele": "A", "end": 2671, "referenceAllele": "G", "start": 2670 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.1:c.1729G>A" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Glu577Lys", "hgvsWellDefined": "NP_001341297.1:p.Glu577Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522357" }, { "@id": "http://reg.genome.network/allele/PA2827848428", "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "G", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.1:c.1996G>A" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Glu666Lys", "hgvsWellDefined": "NP_001341298.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522358" }, { "@id": "http://reg.genome.network/allele/PA2827848901", "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "G", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.1:c.1735G>A" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Glu579Lys", "hgvsWellDefined": "NP_001341299.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522359" }, { "coordinates": [ { "allele": "A", "end": 2657, "referenceAllele": "G", "start": 2656 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.3:c.2008G>A" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Glu670Lys", "hgvsWellDefined": "XP_006716366.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539145" }, { "coordinates": [ { "allele": "A", "end": 2390, "referenceAllele": "G", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.3:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Glu581Lys", "hgvsWellDefined": "XP_006716373.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539146" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.2:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Glu581Lys", "hgvsWellDefined": "XP_006716375.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539147" }, { "coordinates": [ { "allele": "A", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.2:c.1735G>A" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Glu579Lys", "hgvsWellDefined": "XP_006716377.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539148" }, { "coordinates": [ { "allele": "A", "end": 2256, "referenceAllele": "G", "start": 2255 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.2:c.2107G>A" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Glu703Lys", "hgvsWellDefined": "XP_011542745.1:p.Glu703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555669" }, { "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "G", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.2:c.2101G>A" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Glu701Lys", "hgvsWellDefined": "XP_011542747.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555670" }, { "coordinates": [ { "allele": "A", "end": 2251, "referenceAllele": "G", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.2:c.2107G>A" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Glu703Lys", "hgvsWellDefined": "XP_011542748.1:p.Glu703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555671" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.2:c.2101G>A" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Glu701Lys", "hgvsWellDefined": "XP_011542749.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555672" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.2:c.1834G>A" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Glu612Lys", "hgvsWellDefined": "XP_011542752.1:p.Glu612Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555673" }, { "coordinates": [ { "allele": "A", "end": 2246, "referenceAllele": "G", "start": 2245 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013219.1:c.2095G>A" ], "proteinEffect": { "hgvs": "XP_016868708.1:p.Glu699Lys", "hgvsWellDefined": "XP_016868708.1:p.Glu699Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566584" }, { "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013220.1:c.2095G>A" ], "proteinEffect": { "hgvs": "XP_016868709.1:p.Glu699Lys", "hgvsWellDefined": "XP_016868709.1:p.Glu699Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566585" }, { "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "G", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013221.1:c.2008G>A" ], "proteinEffect": { "hgvs": "XP_016868710.1:p.Glu670Lys", "hgvsWellDefined": "XP_016868710.1:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566586" }, { "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013222.2:c.2002G>A" ], "proteinEffect": { "hgvs": "XP_016868711.1:p.Glu668Lys", "hgvsWellDefined": "XP_016868711.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566587" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "G", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013224.2:c.1996G>A" ], "proteinEffect": { "hgvs": "XP_016868713.1:p.Glu666Lys", "hgvsWellDefined": "XP_016868713.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566588" }, { "coordinates": [ { "allele": "A", "end": 2259, "referenceAllele": "G", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013225.2:c.1996G>A" ], "proteinEffect": { "hgvs": "XP_016868714.1:p.Glu666Lys", "hgvsWellDefined": "XP_016868714.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566589" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013226.1:c.1834G>A" ], "proteinEffect": { "hgvs": "XP_016868715.1:p.Glu612Lys", "hgvsWellDefined": "XP_016868715.1:p.Glu612Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566590" }, { "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013227.1:c.1828G>A" ], "proteinEffect": { "hgvs": "XP_016868716.1:p.Glu610Lys", "hgvsWellDefined": "XP_016868716.1:p.Glu610Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566591" }, { "coordinates": [ { "allele": "A", "end": 2413, "referenceAllele": "G", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013229.2:c.1036G>A" ], "proteinEffect": { "hgvs": "XP_016868718.1:p.Glu346Lys", "hgvsWellDefined": "XP_016868718.1:p.Glu346Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566592" }, { "coordinates": [ { "allele": "A", "end": 3037, "referenceAllele": "G", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013230.1:c.1036G>A" ], "proteinEffect": { "hgvs": "XP_016868719.1:p.Glu346Lys", "hgvsWellDefined": "XP_016868719.1:p.Glu346Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS566593" }, { "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_024447097.1:c.1984G>A" ], "proteinEffect": { "hgvs": "XP_024302865.1:p.Glu662Lys", "hgvsWellDefined": "XP_024302865.1:p.Glu662Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580707" }, { "coordinates": [ { "allele": "A", "end": 2281, "referenceAllele": "G", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745495.1:n.2281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594014" }, { "coordinates": [ { "allele": "A", "end": 2281, "referenceAllele": "G", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745496.1:n.2281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594015" }, { "@id": "http://reg.genome.network/allele/PA2826098894", "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.2:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Glu668Lys", "hgvsWellDefined": "NP_001167534.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678840" }, { "@id": "http://reg.genome.network/allele/PA2826099651", "coordinates": [ { "allele": "A", "end": 2813, "referenceAllele": "G", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.2:c.1978G>A" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Glu660Lys", "hgvsWellDefined": "NP_001167535.1:p.Glu660Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678841" }, { "@id": "http://reg.genome.network/allele/PA2826100568", "coordinates": [ { "allele": "A", "end": 2143, "referenceAllele": "G", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.2:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Glu668Lys", "hgvsWellDefined": "NP_001167536.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678842" }, { "@id": "http://reg.genome.network/allele/PA2826101448", "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "G", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Glu581Lys", "hgvsWellDefined": "NP_001167537.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678843" }, { "@id": "http://reg.genome.network/allele/PA2827847825", "coordinates": [ { "allele": "A", "end": 2472, "referenceAllele": "G", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.2:c.1729G>A" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Glu577Lys", "hgvsWellDefined": "NP_001341297.1:p.Glu577Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690147" }, { "@id": "http://reg.genome.network/allele/PA2829853502", "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.4:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Glu668Lys", "hgvsWellDefined": "NP_056934.2:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS697614" }, { "@id": "http://reg.genome.network/allele/PA2830018686", "coordinates": [ { "allele": "A", "end": 2484, "referenceAllele": "G", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.3:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Glu581Lys", "hgvsWellDefined": "NP_075593.1:p.Glu581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698625" }, { "@id": "http://reg.genome.network/allele/PA2830019391", "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.3:c.1735G>A" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Glu579Lys", "hgvsWellDefined": "NP_075594.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698626" }, { "@id": "http://reg.genome.network/allele/PA112423", "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.3:c.2008G>A" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Glu670Lys", "hgvsWellDefined": "NP_075598.2:p.Glu670Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.2008G>A" }, "RefSeq": { "hgvs": "NM_023110.3:c.2008G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Glu670Lys" }, "RefSeq": { "hgvs": "NP_075598.2:p.Glu670Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA915993632", "coordinates": [ { "allele": "A", "end": 2303, "referenceAllele": "G", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.2:c.2101G>A" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Glu701Lys", "hgvsWellDefined": "NP_001167538.1:p.Glu701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713491" }, { "@id": "http://reg.genome.network/allele/PA2827847362", "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.2002G>A" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Glu668Lys", "hgvsWellDefined": "NP_001341296.1:p.Glu668Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827848428", "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.1996G>A" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Glu666Lys", "hgvsWellDefined": "NP_001341298.1:p.Glu666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848901", "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.1735G>A" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Glu579Lys", "hgvsWellDefined": "NP_001341299.1:p.Glu579Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }