{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369588358", "communityStandardTitle": [ "NM_004333.6(BRAF):c.1514T>A (p.Leu505His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=243226", "active": true, "id": "COSM243226" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.140477794A>T?assembly=hg19", "id": "chr7:g.140477794A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.140777994A>T?assembly=hg38", "id": "chr7:g.140777994A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2129019485", "rs": 2129019485 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 140777994, "referenceAllele": "A", "start": 140777993 } ], "hgvs": [ "NC_000007.14:g.140777994A>T", "CM000669.2:g.140777994A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 140477794, "referenceAllele": "A", "start": 140477793 } ], "hgvs": [ "NC_000007.13:g.140477794A>T", "CM000669.1:g.140477794A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 140124263, "referenceAllele": "A", "start": 140124262 } ], "hgvs": [ "NC_000007.12:g.140124263A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 151771, "referenceAllele": "T", "start": 151770 } ], "hgvs": [ "NG_007873.3:g.151771T>A", "LRG_299:g.151771T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000682" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "T", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000646891.2:c.1514T>A" ], "proteinEffect": { "hgvs": "ENSP00000493543.1:p.Leu505His", "hgvsWellDefined": "ENSP00000493543.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS906449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646891.2:c.1514T>A" }, "RefSeq": { "hgvs": "NM_004333.6:c.1514T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493543.1:p.Leu505His" }, "RefSeq": { "hgvs": "NP_004324.2:p.Leu505His" } } } }, { "coordinates": [ { "allele": "A", "end": 1663, "referenceAllele": "T", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000288602.11:c.1634T>A" ], "proteinEffect": { "hgvs": "ENSP00000288602.7:p.Leu545His", "hgvsWellDefined": "ENSP00000288602.7:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS743952" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "T", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000479537.6:c.184T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757306" }, { "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "T", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000496384.7:c.1514T>A" ], "proteinEffect": { "hgvs": "ENSP00000419060.2:p.Leu505His", "hgvsWellDefined": "ENSP00000419060.2:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS757830" }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "T", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000497784.2:c.*964T>A" ], "proteinEffect": { "hgvs": "ENSP00000420119.2:n.*964T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757877" }, { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "T", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000642228.1:c.*592T>A" ], "proteinEffect": { "hgvs": "ENSP00000493678.1:n.*592T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766628" }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "T", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000642875.1:n.1078T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766965" }, { "coordinates": [ { "allele": "A", "end": 1904, "referenceAllele": "T", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000644120.1:n.1904T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767644" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "T", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000644650.1:c.610T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767921" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "T", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000644905.1:n.1603T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768066" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "T", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000644969.2:c.1634T>A" ], "proteinEffect": { "hgvs": "ENSP00000496776.1:p.Leu545His", "hgvsWellDefined": "ENSP00000496776.1:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS768098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644969.2:c.1634T>A" }, "RefSeq": { "hgvs": "NM_001374258.1:c.1634T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496776.1:p.Leu545His" }, "RefSeq": { "hgvs": "NP_001361187.1:p.Leu545His" } } } }, { "coordinates": [ { "allele": "A", "end": 1519, "referenceAllele": "T", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000646730.1:c.1514T>A" ], "proteinEffect": { "hgvs": "ENSP00000494784.1:p.Leu505His", "hgvsWellDefined": "ENSP00000494784.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS769037" }, { "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "T", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000646891.1:c.1514T>A" ], "proteinEffect": { "hgvs": "ENSP00000493543.1:p.Leu505His", "hgvsWellDefined": "ENSP00000493543.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS769120" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "T", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000647434.1:c.557T>A" ], "proteinEffect": { "hgvs": "ENSP00000495132.1:p.Leu186His", "hgvsWellDefined": "ENSP00000495132.1:p.Leu186His" }, "referenceSequence": "http://reg.genome.network/refseq/RS769410" }, { "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "T", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000288602.10:c.1514T>A" ], "proteinEffect": { "hgvs": "ENSP00000288602.6:p.Leu505His", "hgvsWellDefined": "ENSP00000288602.6:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS253526" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "T", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000496384.6:c.337T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332865" }, { "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "T", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "ENST00000497784.1:c.1549T>A" ], "proteinEffect": { "hgvs": "ENSP00000420119.1:n.1549T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS333935" }, { "@id": "http://reg.genome.network/allele/PA2579757125", "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "T", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_004333.4:c.1514T>A", "LRG_299t1:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_004324.2:p.Leu505His", "hgvsWellDefined": "NP_004324.2:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029502" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_005250045.1:c.1514T>A" ], "proteinEffect": { "hgvs": "XP_005250102.1:p.Leu505His", "hgvsWellDefined": "XP_005250102.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059048" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_005250046.1:c.1514T>A" ], "proteinEffect": { "hgvs": "XP_005250103.1:p.Leu505His", "hgvsWellDefined": "XP_005250103.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059049" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_011516529.1:c.1514T>A" ], "proteinEffect": { "hgvs": "XP_011514831.1:p.Leu505His", "hgvsWellDefined": "XP_011514831.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083730" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_011516530.1:c.1514T>A" ], "proteinEffect": { "hgvs": "XP_011514832.1:p.Leu505His", "hgvsWellDefined": "XP_011514832.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083731" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_242190.1:n.1522T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116222" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_927520.1:n.1522T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123925" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_927521.1:n.1522T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123926" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_927522.1:n.1522T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123927" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_927523.1:n.1522T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123928" }, { "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "T", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001354609.1:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_001341538.1:p.Leu505His", "hgvsWellDefined": "NP_001341538.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522553" }, { "@id": "http://reg.genome.network/allele/PA2579757125", "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "T", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_004333.5:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_004324.2:p.Leu505His", "hgvsWellDefined": "NP_004324.2:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525199" }, { "coordinates": [ { "allele": "A", "end": 1819, "referenceAllele": "T", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NR_148928.1:n.1819T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531377" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_017012558.1:c.1634T>A" ], "proteinEffect": { "hgvs": "XP_016868047.1:p.Leu545His", "hgvsWellDefined": "XP_016868047.1:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS566138" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XM_017012559.1:c.1634T>A" ], "proteinEffect": { "hgvs": "XP_016868048.1:p.Leu545His", "hgvsWellDefined": "XP_016868048.1:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS566139" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_001744857.1:n.1642T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593501" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "XR_001744858.1:n.1642T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593502" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "T", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001354609.2:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_001341538.1:p.Leu505His", "hgvsWellDefined": "NP_001341538.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690253" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "T", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001374244.1:c.1634T>A" ], "proteinEffect": { "hgvs": "NP_001361173.1:p.Leu545His", "hgvsWellDefined": "NP_001361173.1:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693184" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "T", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001374258.1:c.1634T>A" ], "proteinEffect": { "hgvs": "NP_001361187.1:p.Leu545His", "hgvsWellDefined": "NP_001361187.1:p.Leu545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644969.2:c.1634T>A" }, "RefSeq": { "hgvs": "NM_001374258.1:c.1634T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496776.1:p.Leu545His" }, "RefSeq": { "hgvs": "NP_001361187.1:p.Leu545His" } } } }, { "@id": "http://reg.genome.network/allele/PA2579757125", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "T", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_004333.6:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_004324.2:p.Leu505His", "hgvsWellDefined": "NP_004324.2:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696110", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646891.2:c.1514T>A" }, "RefSeq": { "hgvs": "NM_004333.6:c.1514T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493543.1:p.Leu505His" }, "RefSeq": { "hgvs": "NP_004324.2:p.Leu505His" } } } }, { "coordinates": [ { "allele": "A", "end": 1749, "referenceAllele": "T", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378467.1:c.1523T>A" ], "proteinEffect": { "hgvs": "NP_001365396.1:p.Leu508His", "hgvsWellDefined": "NP_001365396.1:p.Leu508His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721717" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "T", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378468.1:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_001365397.1:p.Leu505His", "hgvsWellDefined": "NP_001365397.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721718" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "T", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378469.1:c.1448T>A" ], "proteinEffect": { "hgvs": "NP_001365398.1:p.Leu483His", "hgvsWellDefined": "NP_001365398.1:p.Leu483His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721719" }, { "coordinates": [ { "allele": "A", "end": 1638, "referenceAllele": "T", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378470.1:c.1412T>A" ], "proteinEffect": { "hgvs": "NP_001365399.1:p.Leu471His", "hgvsWellDefined": "NP_001365399.1:p.Leu471His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721720" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "T", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378471.1:c.1403T>A" ], "proteinEffect": { "hgvs": "NP_001365400.1:p.Leu468His", "hgvsWellDefined": "NP_001365400.1:p.Leu468His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721721" }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "T", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378472.1:c.1358T>A" ], "proteinEffect": { "hgvs": "NP_001365401.1:p.Leu453His", "hgvsWellDefined": "NP_001365401.1:p.Leu453His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721722" }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "T", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378473.1:c.1358T>A" ], "proteinEffect": { "hgvs": "NP_001365402.1:p.Leu453His", "hgvsWellDefined": "NP_001365402.1:p.Leu453His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721723" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "T", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378474.1:c.1514T>A" ], "proteinEffect": { "hgvs": "NP_001365403.1:p.Leu505His", "hgvsWellDefined": "NP_001365403.1:p.Leu505His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721724" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "T", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001097", "geneNCBI_id": 673, "geneSymbol": "BRAF", "hgvs": [ "NM_001378475.1:c.1250T>A" ], "proteinEffect": { "hgvs": "NP_001365404.1:p.Leu417His", "hgvsWellDefined": "NP_001365404.1:p.Leu417His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721725" } ], "type": "nucleotide" }