{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602865", "communityStandardTitle": [ "NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363309[alleleid]", "alleleId": 363309, "preferredName": "NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376430", "RCV": [ "RCV000419230", "RCV000418590", "RCV000429290", "RCV000435727", "RCV000436467" ], "variationId": 376430 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38275397T>C?assembly=hg19", "id": "chr8:g.38275397T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38417879T>C?assembly=hg38", "id": "chr8:g.38417879T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519899", "rs": 1057519899 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38417879, "referenceAllele": "T", "start": 38417878 } ], "hgvs": [ "NC_000008.11:g.38417879T>C", "CM000670.2:g.38417879T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38275397, "referenceAllele": "T", "start": 38275396 } ], "hgvs": [ "NC_000008.10:g.38275397T>C", "CM000670.1:g.38275397T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38394554, "referenceAllele": "T", "start": 38394553 } ], "hgvs": [ "NC_000008.9:g.38394554T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "G", "end": 55956, "referenceAllele": "A", "start": 55955 } ], "hgvs": [ "NG_007729.1:g.55956A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2485, "referenceAllele": "A", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000703405.1:c.1543A>G" ], "proteinEffect": { "hgvs": "ENSP00000515291.1:p.Met515Val", "hgvsWellDefined": "ENSP00000515291.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS911687" }, { "coordinates": [ { "allele": "G", "end": 2240, "referenceAllele": "A", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.9:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000340636.7:p.Met511Val", "hgvsWellDefined": "ENSP00000340636.7:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824009" }, { "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "A", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.8:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000393312.4:p.Met511Val", "hgvsWellDefined": "ENSP00000393312.4:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824777" }, { "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "A", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000524528.2:n.2436A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825692" }, { "coordinates": [ { "allele": "G", "end": 2432, "referenceAllele": "A", "start": 2431 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683765.1:c.1723A>G" ], "proteinEffect": { "hgvs": "ENSP00000507039.1:p.Met575Val", "hgvsWellDefined": "ENSP00000507039.1:p.Met575Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828736" }, { "coordinates": [ { "allele": "G", "end": 2272, "referenceAllele": "A", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683815.1:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000507997.1:p.Met511Val", "hgvsWellDefined": "ENSP00000507997.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828784" }, { "coordinates": [ { "allele": "G", "end": 2231, "referenceAllele": "A", "start": 2230 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683948.1:n.2231A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828913" }, { "coordinates": [ { "allele": "G", "end": 2005, "referenceAllele": "A", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000684654.1:c.1264A>G" ], "proteinEffect": { "hgvs": "ENSP00000507205.1:p.Met422Val", "hgvsWellDefined": "ENSP00000507205.1:p.Met422Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS829605" }, { "coordinates": [ { "allele": "G", "end": 2286, "referenceAllele": "A", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.7:c.1543A>G" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Met515Val", "hgvsWellDefined": "ENSP00000400162.2:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS756140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.1543A>G" }, "RefSeq": { "hgvs": "NM_023110.3:c.1543A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Met515Val" }, "RefSeq": { "hgvs": "NP_075598.2:p.Met515Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1703, "referenceAllele": "A", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000649678.1:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000497266.1:p.Met511Val", "hgvsWellDefined": "ENSP00000497266.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS770674" }, { "coordinates": [ { "allele": "G", "end": 1591, "referenceAllele": "A", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674189.1:c.*1189A>G" ], "proteinEffect": { "hgvs": "ENSP00000501345.1:n.*1189A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774201" }, { "coordinates": [ { "allele": "G", "end": 1879, "referenceAllele": "A", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674380.1:c.*1510A>G" ], "proteinEffect": { "hgvs": "ENSP00000501514.1:n.*1510A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774355" }, { "coordinates": [ { "allele": "G", "end": 3037, "referenceAllele": "A", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674474.1:n.3037A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774438" }, { "coordinates": [ { "allele": "G", "end": 1994, "referenceAllele": "A", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000326324.10:c.1270A>G" ], "proteinEffect": { "hgvs": "ENSP00000327229.6:p.Met424Val", "hgvsWellDefined": "ENSP00000327229.6:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS258606" }, { "coordinates": [ { "allele": "G", "end": 2334, "referenceAllele": "A", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000335922.9:c.1513A>G" ], "proteinEffect": { "hgvs": "ENSP00000337247.5:p.Met505Val", "hgvsWellDefined": "ENSP00000337247.5:p.Met505Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS260217" }, { "coordinates": [ { "allele": "G", "end": 2639, "referenceAllele": "A", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.8:c.*593A>G" ], "proteinEffect": { "hgvs": "ENSP00000340636.6:n.*593A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS261340" }, { "coordinates": [ { "allele": "G", "end": 2000, "referenceAllele": "A", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000356207.9:c.1276A>G" ], "proteinEffect": { "hgvs": "ENSP00000348537.5:p.Met426Val", "hgvsWellDefined": "ENSP00000348537.5:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS263687" }, { "coordinates": [ { "allele": "G", "end": 2286, "referenceAllele": "A", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397091.9:c.1537A>G" ], "proteinEffect": { "hgvs": "ENSP00000380280.5:p.Met513Val", "hgvsWellDefined": "ENSP00000380280.5:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277607" }, { "coordinates": [ { "allele": "G", "end": 1333, "referenceAllele": "A", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397103.5:c.1276A>G" ], "proteinEffect": { "hgvs": "ENSP00000380292.1:p.Met426Val", "hgvsWellDefined": "ENSP00000380292.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277617" }, { "coordinates": [ { "allele": "G", "end": 1838, "referenceAllele": "A", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397108.8:c.1537A>G" ], "proteinEffect": { "hgvs": "ENSP00000380297.4:p.Met513Val", "hgvsWellDefined": "ENSP00000380297.4:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277620" }, { "coordinates": [ { "allele": "G", "end": 1854, "referenceAllele": "A", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397113.6:c.1537A>G" ], "proteinEffect": { "hgvs": "ENSP00000380302.2:p.Met513Val", "hgvsWellDefined": "ENSP00000380302.2:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277625" }, { "coordinates": [ { "allele": "G", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.7:c.1636A>G" ], "proteinEffect": { "hgvs": "ENSP00000393312.3:p.Met546Val", "hgvsWellDefined": "ENSP00000393312.3:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS289006" }, { "coordinates": [ { "allele": "G", "end": 2485, "referenceAllele": "A", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.6:c.1543A>G" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Met515Val", "hgvsWellDefined": "ENSP00000400162.2:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS299382" }, { "coordinates": [ { "allele": "G", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000466021.5:n.710A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309494" }, { "coordinates": [ { "allele": "G", "end": 1420, "referenceAllele": "A", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000487647.5:c.1420A>G" ], "proteinEffect": { "hgvs": "ENSP00000435254.1:n.1420A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS326165" }, { "coordinates": [ { "allele": "G", "end": 3822, "referenceAllele": "A", "start": 3821 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000526570.5:n.3822A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS352416" }, { "coordinates": [ { "allele": "G", "end": 1065, "referenceAllele": "A", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000527114.5:n.1065A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS352870" }, { "coordinates": [ { "allele": "G", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000527745.3:n.771A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS353392" }, { "coordinates": [ { "allele": "G", "end": 2267, "referenceAllele": "A", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000532791.5:c.1537A>G" ], "proteinEffect": { "hgvs": "ENSP00000432972.1:p.Met513Val", "hgvsWellDefined": "ENSP00000432972.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS357662" }, { "coordinates": [ { "allele": "G", "end": 2067, "referenceAllele": "A", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000619564.3:c.*438A>G" ], "proteinEffect": { "hgvs": "ENSP00000484553.1:n.*438A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS404436" }, { "@id": "http://reg.genome.network/allele/PA2826098746", "coordinates": [ { "allele": "G", "end": 2479, "referenceAllele": "A", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.1:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Met513Val", "hgvsWellDefined": "NP_001167534.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015643" }, { "@id": "http://reg.genome.network/allele/PA2826099519", "coordinates": [ { "allele": "G", "end": 2547, "referenceAllele": "A", "start": 2546 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.1:c.1513A>G" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Met505Val", "hgvsWellDefined": "NP_001167535.1:p.Met505Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015644" }, { "@id": "http://reg.genome.network/allele/PA2826100386", "coordinates": [ { "allele": "G", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.1:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Met513Val", "hgvsWellDefined": "NP_001167536.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015645" }, { "@id": "http://reg.genome.network/allele/PA2826101257", "coordinates": [ { "allele": "G", "end": 1538, "referenceAllele": "A", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.1:c.1276A>G" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Met426Val", "hgvsWellDefined": "NP_001167537.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015646" }, { "@id": "http://reg.genome.network/allele/PA915993558", "coordinates": [ { "allele": "G", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.1:c.1636A>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Met546Val", "hgvsWellDefined": "NP_001167538.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015647" }, { "@id": "http://reg.genome.network/allele/PA2829853344", "coordinates": [ { "allele": "G", "end": 2479, "referenceAllele": "A", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.3:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Met513Val", "hgvsWellDefined": "NP_056934.2:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS034242" }, { "@id": "http://reg.genome.network/allele/PA2830018535", "coordinates": [ { "allele": "G", "end": 2218, "referenceAllele": "A", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.2:c.1276A>G" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Met426Val", "hgvsWellDefined": "NP_075593.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS037565" }, { "@id": "http://reg.genome.network/allele/PA2830019254", "coordinates": [ { "allele": "G", "end": 2212, "referenceAllele": "A", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.2:c.1270A>G" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Met424Val", "hgvsWellDefined": "NP_075594.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS037566" }, { "@id": "http://reg.genome.network/allele/PA645415664", "coordinates": [ { "allele": "G", "end": 2485, "referenceAllele": "A", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.2:c.1543A>G" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Met515Val", "hgvsWellDefined": "NP_075598.2:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS037567" }, { "coordinates": [ { "allele": "G", "end": 2286, "referenceAllele": "A", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.2:c.1543A>G" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Met515Val", "hgvsWellDefined": "XP_006716366.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071594" }, { "coordinates": [ { "allele": "G", "end": 1802, "referenceAllele": "A", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716304.1:c.1543A>G" ], "proteinEffect": { "hgvs": "XP_006716367.1:p.Met515Val", "hgvsWellDefined": "XP_006716367.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071595" }, { "coordinates": [ { "allele": "G", "end": 1810, "referenceAllele": "A", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716305.2:c.1543A>G" ], "proteinEffect": { "hgvs": "XP_006716368.1:p.Met515Val", "hgvsWellDefined": "XP_006716368.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071596" }, { "coordinates": [ { "allele": "G", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716306.2:c.1537A>G" ], "proteinEffect": { "hgvs": "XP_006716369.1:p.Met513Val", "hgvsWellDefined": "XP_006716369.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071597" }, { "coordinates": [ { "allele": "G", "end": 1796, "referenceAllele": "A", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716307.1:c.1537A>G" ], "proteinEffect": { "hgvs": "XP_006716370.1:p.Met513Val", "hgvsWellDefined": "XP_006716370.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071598" }, { "coordinates": [ { "allele": "G", "end": 1520, "referenceAllele": "A", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716309.2:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_006716372.1:p.Met507Val", "hgvsWellDefined": "XP_006716372.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071599" }, { "coordinates": [ { "allele": "G", "end": 2019, "referenceAllele": "A", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.2:c.1276A>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Met426Val", "hgvsWellDefined": "XP_006716373.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071600" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716311.1:c.1276A>G" ], "proteinEffect": { "hgvs": "XP_006716374.1:p.Met426Val", "hgvsWellDefined": "XP_006716374.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071601" }, { "coordinates": [ { "allele": "G", "end": 1487, "referenceAllele": "A", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.1:c.1276A>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Met426Val", "hgvsWellDefined": "XP_006716375.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071602" }, { "coordinates": [ { "allele": "G", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716313.2:c.1270A>G" ], "proteinEffect": { "hgvs": "XP_006716376.1:p.Met424Val", "hgvsWellDefined": "XP_006716376.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071603" }, { "coordinates": [ { "allele": "G", "end": 1491, "referenceAllele": "A", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.1:c.1270A>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Met424Val", "hgvsWellDefined": "XP_006716377.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071604" }, { "coordinates": [ { "allele": "G", "end": 1786, "referenceAllele": "A", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.1:c.1642A>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Met548Val", "hgvsWellDefined": "XP_011542745.1:p.Met548Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111354" }, { "coordinates": [ { "allele": "G", "end": 1780, "referenceAllele": "A", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544444.1:c.1636A>G" ], "proteinEffect": { "hgvs": "XP_011542746.1:p.Met546Val", "hgvsWellDefined": "XP_011542746.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111355" }, { "coordinates": [ { "allele": "G", "end": 1780, "referenceAllele": "A", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.1:c.1636A>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Met546Val", "hgvsWellDefined": "XP_011542747.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111356" }, { "coordinates": [ { "allele": "G", "end": 1786, "referenceAllele": "A", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.1:c.1642A>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Met548Val", "hgvsWellDefined": "XP_011542748.1:p.Met548Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111357" }, { "coordinates": [ { "allele": "G", "end": 1780, "referenceAllele": "A", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.1:c.1636A>G" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Met546Val", "hgvsWellDefined": "XP_011542749.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111358" }, { "coordinates": [ { "allele": "G", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544448.1:c.1375A>G" ], "proteinEffect": { "hgvs": "XP_011542750.1:p.Met459Val", "hgvsWellDefined": "XP_011542750.1:p.Met459Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111359" }, { "coordinates": [ { "allele": "G", "end": 1384, "referenceAllele": "A", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544449.1:c.1369A>G" ], "proteinEffect": { "hgvs": "XP_011542751.1:p.Met457Val", "hgvsWellDefined": "XP_011542751.1:p.Met457Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111360" }, { "coordinates": [ { "allele": "G", "end": 1384, "referenceAllele": "A", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.1:c.1369A>G" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Met457Val", "hgvsWellDefined": "XP_011542752.1:p.Met457Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111361" }, { "coordinates": [ { "allele": "G", "end": 1253, "referenceAllele": "A", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544451.1:c.1252A>G" ], "proteinEffect": { "hgvs": "XP_011542753.1:p.Met418Val", "hgvsWellDefined": "XP_011542753.1:p.Met418Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111362" }, { "@id": "http://reg.genome.network/allele/PA2827847254", "coordinates": [ { "allele": "G", "end": 2479, "referenceAllele": "A", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.1:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Met513Val", "hgvsWellDefined": "NP_001341296.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522356" }, { "@id": "http://reg.genome.network/allele/PA2827847717", "coordinates": [ { "allele": "G", "end": 2206, "referenceAllele": "A", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.1:c.1264A>G" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Met422Val", "hgvsWellDefined": "NP_001341297.1:p.Met422Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522357" }, { "@id": "http://reg.genome.network/allele/PA2827848320", "coordinates": [ { "allele": "G", "end": 1793, "referenceAllele": "A", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.1:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Met511Val", "hgvsWellDefined": "NP_001341298.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522358" }, { "@id": "http://reg.genome.network/allele/PA2827848793", "coordinates": [ { "allele": "G", "end": 2212, "referenceAllele": "A", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.1:c.1270A>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Met424Val", "hgvsWellDefined": "NP_001341299.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522359" }, { "coordinates": [ { "allele": "G", "end": 2192, "referenceAllele": "A", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.3:c.1543A>G" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Met515Val", "hgvsWellDefined": "XP_006716366.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS539145" }, { "coordinates": [ { "allele": "G", "end": 1925, "referenceAllele": "A", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.3:c.1276A>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Met426Val", "hgvsWellDefined": "XP_006716373.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS539146" }, { "coordinates": [ { "allele": "G", "end": 1538, "referenceAllele": "A", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.2:c.1276A>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Met426Val", "hgvsWellDefined": "XP_006716375.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS539147" }, { "coordinates": [ { "allele": "G", "end": 1474, "referenceAllele": "A", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.2:c.1270A>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Met424Val", "hgvsWellDefined": "XP_006716377.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS539148" }, { "coordinates": [ { "allele": "G", "end": 1791, "referenceAllele": "A", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.2:c.1642A>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Met548Val", "hgvsWellDefined": "XP_011542745.1:p.Met548Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555669" }, { "coordinates": [ { "allele": "G", "end": 1793, "referenceAllele": "A", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.2:c.1636A>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Met546Val", "hgvsWellDefined": "XP_011542747.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555670" }, { "coordinates": [ { "allele": "G", "end": 1786, "referenceAllele": "A", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.2:c.1642A>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Met548Val", "hgvsWellDefined": "XP_011542748.1:p.Met548Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555671" }, { "coordinates": [ { "allele": "G", "end": 1780, "referenceAllele": "A", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.2:c.1636A>G" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Met546Val", "hgvsWellDefined": "XP_011542749.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555672" }, { "coordinates": [ { "allele": "G", "end": 1384, "referenceAllele": "A", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.2:c.1369A>G" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Met457Val", "hgvsWellDefined": "XP_011542752.1:p.Met457Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555673" }, { "coordinates": [ { "allele": "G", "end": 1781, "referenceAllele": "A", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013219.1:c.1630A>G" ], "proteinEffect": { "hgvs": "XP_016868708.1:p.Met544Val", "hgvsWellDefined": "XP_016868708.1:p.Met544Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566584" }, { "coordinates": [ { "allele": "G", "end": 1774, "referenceAllele": "A", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013220.1:c.1630A>G" ], "proteinEffect": { "hgvs": "XP_016868709.1:p.Met544Val", "hgvsWellDefined": "XP_016868709.1:p.Met544Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566585" }, { "coordinates": [ { "allele": "G", "end": 1995, "referenceAllele": "A", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013221.1:c.1543A>G" ], "proteinEffect": { "hgvs": "XP_016868710.1:p.Met515Val", "hgvsWellDefined": "XP_016868710.1:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566586" }, { "coordinates": [ { "allele": "G", "end": 1774, "referenceAllele": "A", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013222.2:c.1537A>G" ], "proteinEffect": { "hgvs": "XP_016868711.1:p.Met513Val", "hgvsWellDefined": "XP_016868711.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566587" }, { "coordinates": [ { "allele": "G", "end": 2180, "referenceAllele": "A", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013224.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_016868713.1:p.Met511Val", "hgvsWellDefined": "XP_016868713.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566588" }, { "coordinates": [ { "allele": "G", "end": 1794, "referenceAllele": "A", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013225.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_016868714.1:p.Met511Val", "hgvsWellDefined": "XP_016868714.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566589" }, { "coordinates": [ { "allele": "G", "end": 1384, "referenceAllele": "A", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013226.1:c.1369A>G" ], "proteinEffect": { "hgvs": "XP_016868715.1:p.Met457Val", "hgvsWellDefined": "XP_016868715.1:p.Met457Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566590" }, { "coordinates": [ { "allele": "G", "end": 1378, "referenceAllele": "A", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013227.1:c.1363A>G" ], "proteinEffect": { "hgvs": "XP_016868716.1:p.Met455Val", "hgvsWellDefined": "XP_016868716.1:p.Met455Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566591" }, { "coordinates": [ { "allele": "G", "end": 1948, "referenceAllele": "A", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013229.2:c.571A>G" ], "proteinEffect": { "hgvs": "XP_016868718.1:p.Met191Val", "hgvsWellDefined": "XP_016868718.1:p.Met191Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566592" }, { "coordinates": [ { "allele": "G", "end": 2572, "referenceAllele": "A", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013230.1:c.571A>G" ], "proteinEffect": { "hgvs": "XP_016868719.1:p.Met191Val", "hgvsWellDefined": "XP_016868719.1:p.Met191Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS566593" }, { "coordinates": [ { "allele": "G", "end": 1520, "referenceAllele": "A", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_024447097.1:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_024302865.1:p.Met507Val", "hgvsWellDefined": "XP_024302865.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580707" }, { "coordinates": [ { "allele": "G", "end": 1791, "referenceAllele": "A", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745495.1:n.1791A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594014" }, { "coordinates": [ { "allele": "G", "end": 1791, "referenceAllele": "A", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745496.1:n.1791A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594015" }, { "@id": "http://reg.genome.network/allele/PA2826098746", "coordinates": [ { "allele": "G", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.2:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Met513Val", "hgvsWellDefined": "NP_001167534.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678840" }, { "@id": "http://reg.genome.network/allele/PA2826099519", "coordinates": [ { "allele": "G", "end": 2348, "referenceAllele": "A", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.2:c.1513A>G" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Met505Val", "hgvsWellDefined": "NP_001167535.1:p.Met505Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678841" }, { "@id": "http://reg.genome.network/allele/PA2826100386", "coordinates": [ { "allele": "G", "end": 1678, "referenceAllele": "A", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.2:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Met513Val", "hgvsWellDefined": "NP_001167536.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678842" }, { "@id": "http://reg.genome.network/allele/PA2826101257", "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.2:c.1276A>G" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Met426Val", "hgvsWellDefined": "NP_001167537.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678843" }, { "@id": "http://reg.genome.network/allele/PA2827847717", "coordinates": [ { "allele": "G", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.2:c.1264A>G" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Met422Val", "hgvsWellDefined": "NP_001341297.1:p.Met422Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690147" }, { "@id": "http://reg.genome.network/allele/PA2829853344", "coordinates": [ { "allele": "G", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.4:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Met513Val", "hgvsWellDefined": "NP_056934.2:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS697614" }, { "@id": "http://reg.genome.network/allele/PA2830018535", "coordinates": [ { "allele": "G", "end": 2019, "referenceAllele": "A", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.3:c.1276A>G" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Met426Val", "hgvsWellDefined": "NP_075593.1:p.Met426Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS698625" }, { "@id": "http://reg.genome.network/allele/PA2830019254", "coordinates": [ { "allele": "G", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.3:c.1270A>G" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Met424Val", "hgvsWellDefined": "NP_075594.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS698626" }, { "@id": "http://reg.genome.network/allele/PA645415664", "coordinates": [ { "allele": "G", "end": 2286, "referenceAllele": "A", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.3:c.1543A>G" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Met515Val", "hgvsWellDefined": "NP_075598.2:p.Met515Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS698627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.1543A>G" }, "RefSeq": { "hgvs": "NM_023110.3:c.1543A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Met515Val" }, "RefSeq": { "hgvs": "NP_075598.2:p.Met515Val" } } } }, { "@id": "http://reg.genome.network/allele/PA915993558", "coordinates": [ { "allele": "G", "end": 1838, "referenceAllele": "A", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.2:c.1636A>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Met546Val", "hgvsWellDefined": "NP_001167538.1:p.Met546Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS713491" }, { "@id": "http://reg.genome.network/allele/PA2827847254", "coordinates": [ { "allele": "G", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.1537A>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Met513Val", "hgvsWellDefined": "NP_001341296.1:p.Met513Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827848320", "coordinates": [ { "allele": "G", "end": 1672, "referenceAllele": "A", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Met511Val", "hgvsWellDefined": "NP_001341298.1:p.Met511Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848793", "coordinates": [ { "allele": "G", "end": 2013, "referenceAllele": "A", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.1270A>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Met424Val", "hgvsWellDefined": "NP_001341299.1:p.Met424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }