{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361759008",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286798[alleleid]",
        "alleleId": 1286798,
        "preferredName": "NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297008",
        "RCV": [
          "RCV001724744",
          "RCV002539735",
          "RCV002290740",
          "RCV003401656"
        ],
        "variationId": 1297008
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149435880G>A?assembly=hg19",
        "id": "chr5:g.149435880G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150056317G>A?assembly=hg38",
        "id": "chr5:g.150056317G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2113779576",
        "rs": 2113779576
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150056317,
          "referenceAllele": "G",
          "start": 150056316
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150056317G>A",
        "CM000667.2:g.150056317G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149435880,
          "referenceAllele": "G",
          "start": 149435879
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149435880G>A",
        "CM000667.1:g.149435880G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149416073,
          "referenceAllele": "G",
          "start": 149416072
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149416073G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62056,
          "referenceAllele": "C",
          "start": 62055
        }
      ],
      "hgvs": [
        "NG_012303.1:g.62056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62056,
          "referenceAllele": "C",
          "start": 62055
        }
      ],
      "hgvs": [
        "NG_012303.2:g.62056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:p.Arg782Cys",
        "hgvsWellDefined": "ENSP00000501699.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2344C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2344C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Arg782Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Arg782Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:p.Arg782Cys",
        "hgvsWellDefined": "ENSP00000286301.3:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.*165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:n.*165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000515068.1:c.513C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427545.1:n.513C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712945",
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001275634.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270348",
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Arg782Cys",
        "hgvsWellDefined": "NP_005202.2:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2394,
          "referenceAllele": "C",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.2394C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712945",
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "C",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001275634.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827511044",
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "C",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001336665.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712945",
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001275634.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2344C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2344C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Arg782Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Arg782Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828578938",
      "coordinates": [
        {
          "allele": "T",
          "end": 2734,
          "referenceAllele": "C",
          "start": 2733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001362249.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828579384",
      "coordinates": [
        {
          "allele": "T",
          "end": 2400,
          "referenceAllele": "C",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.1900C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:p.Arg634Cys",
        "hgvsWellDefined": "NP_001362250.1:p.Arg634Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.2237C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827511044",
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "C",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Arg782Cys",
        "hgvsWellDefined": "NP_001336665.1:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270348",
      "coordinates": [
        {
          "allele": "T",
          "end": 2629,
          "referenceAllele": "C",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Arg782Cys",
        "hgvsWellDefined": "NP_005202.2:p.Arg782Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.2308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}