{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007995", "communityStandardTitle": [ "NM_020975.6(RET):c.1852T>G (p.Cys618Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28944[alleleid]", "alleleId": 28944, "preferredName": "NM_020975.6(RET):c.1852T>G (p.Cys618Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13905", "RCV": [ "RCV000014919", "RCV000228834", "RCV000522833", "RCV000762807", "RCV002408462", "RCV002470710" ], "variationId": 13905 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43609096T>G?assembly=hg19", "id": "chr10:g.43609096T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43113648T>G?assembly=hg38", "id": "chr10:g.43113648T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/76262710", "rs": 76262710 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43113648-T-G?dataset=gnomad_r4", "id": "10-43113648-T-G", "variant": "10:43113648 T / G" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 43113648, "referenceAllele": "T", "start": 43113647 } ], "hgvs": [ "NC_000010.11:g.43113648T>G", "CM000672.2:g.43113648T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 43609096, "referenceAllele": "T", "start": 43609095 } ], "hgvs": [ "NC_000010.10:g.43609096T>G", "CM000672.1:g.43609096T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 42929102, "referenceAllele": "T", "start": 42929101 } ], "hgvs": [ "NC_000010.9:g.42929102T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "G", "end": 41580, "referenceAllele": "T", "start": 41579 } ], "hgvs": [ "NG_007489.1:g.41580T>G", "LRG_518:g.41580T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1629, "referenceAllele": "T", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.1456T>G" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Cys486Gly", "hgvsWellDefined": "ENSP00000480088.2:p.Cys486Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "G", "end": 1426, "referenceAllele": "T", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.1426T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "T", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.613T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1852T>G" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Cys618Gly", "hgvsWellDefined": "ENSP00000344798.4:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1852T>G" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Cys618Gly", "hgvsWellDefined": "ENSP00000347942.3:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1852T>G" }, "RefSeq": { "hgvs": "NM_020975.6:c.1852T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Cys618Gly" }, "RefSeq": { "hgvs": "NP_066124.1:p.Cys618Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1409, "referenceAllele": "T", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.*446T>G" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.*446T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "T", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.*446T>G" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.*446T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "G", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1852T>G" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Cys618Gly", "hgvsWellDefined": "ENSP00000344798.4:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "G", "end": 2084, "referenceAllele": "T", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1852T>G" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Cys618Gly", "hgvsWellDefined": "ENSP00000347942.3:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "G", "end": 588, "referenceAllele": "T", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.403T>G" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:p.Cys135Gly", "hgvsWellDefined": "ENSP00000419080.1:p.Cys135Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "G", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 2416, "referenceAllele": "T", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 2415 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+2416T>G" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+2416T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA128190", "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1852T>G", "LRG_518t2:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Cys618Gly", "hgvsWellDefined": "NP_065681.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA106692", "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1852T>G", "LRG_518t1:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Cys618Gly", "hgvsWellDefined": "NP_066124.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "G", "end": 2084, "referenceAllele": "T", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1852T>G" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Cys618Gly", "hgvsWellDefined": "XP_011538329.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828047522", "coordinates": [ { "allele": "G", "end": 1447, "referenceAllele": "T", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.1090T>G" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Cys364Gly", "hgvsWellDefined": "NP_001342145.1:p.Cys364Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA128190", "coordinates": [ { "allele": "G", "end": 2084, "referenceAllele": "T", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Cys618Gly", "hgvsWellDefined": "NP_065681.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA106692", "coordinates": [ { "allele": "G", "end": 2084, "referenceAllele": "T", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Cys618Gly", "hgvsWellDefined": "NP_066124.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA106692", "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Cys618Gly", "hgvsWellDefined": "NP_066124.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1852T>G" }, "RefSeq": { "hgvs": "NM_020975.6:c.1852T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Cys618Gly" }, "RefSeq": { "hgvs": "NP_066124.1:p.Cys618Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA128190", "coordinates": [ { "allele": "G", "end": 2042, "referenceAllele": "T", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1852T>G" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Cys618Gly", "hgvsWellDefined": "NP_065681.1:p.Cys618Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }