{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3506901",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=893597[alleleid]",
        "alleleId": 893597,
        "preferredName": "NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/907434",
        "RCV": [
          "RCV001157283",
          "RCV002557343"
        ],
        "variationId": 907434
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149449844-A-G",
        "id": "5-149449844-A-G",
        "variant": "5:149449844 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149449844A>G?assembly=hg19",
        "id": "chr5:g.149449844A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150070281A>G?assembly=hg38",
        "id": "chr5:g.150070281A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372924085",
        "rs": 372924085
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149449844-A-G?dataset=gnomad_r2_1",
        "id": "5-149449844-A-G",
        "variant": "5:149449844 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150070281-A-G?dataset=gnomad_r3",
        "id": "5-150070281-A-G",
        "variant": "5:150070281 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150070281-A-G?dataset=gnomad_r4",
        "id": "5-150070281-A-G",
        "variant": "5:150070281 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 150070281,
          "referenceAllele": "A",
          "start": 150070280
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150070281A>G",
        "CM000667.2:g.150070281A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149449844,
          "referenceAllele": "A",
          "start": 149449843
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149449844A>G",
        "CM000667.1:g.149449844A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149430037,
          "referenceAllele": "A",
          "start": 149430036
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149430037A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48092,
          "referenceAllele": "T",
          "start": 48091
        }
      ],
      "hgvs": [
        "NG_012303.1:g.48092T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48092,
          "referenceAllele": "T",
          "start": 48091
        }
      ],
      "hgvs": [
        "NG_012303.2:g.48092T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:p.Ile407Thr",
        "hgvsWellDefined": "ENSP00000501699.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1220T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1220T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Ile407Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Ile407Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:p.Ile407Thr",
        "hgvsWellDefined": "ENSP00000286301.3:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:p.Ile407Thr",
        "hgvsWellDefined": "ENSP00000422212.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712710",
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "T",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001275634.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139731167",
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Ile407Thr",
        "hgvsWellDefined": "NP_005202.2:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "T",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.1433T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712710",
      "coordinates": [
        {
          "allele": "C",
          "end": 1496,
          "referenceAllele": "T",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001275634.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510834",
      "coordinates": [
        {
          "allele": "C",
          "end": 1593,
          "referenceAllele": "T",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001336665.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712710",
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001275634.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1220T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1220T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Ile407Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Ile407Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828578730",
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "T",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001362249.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828579174",
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "referenceAllele": "T",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:p.Ile259Thr",
        "hgvsWellDefined": "NP_001362250.1:p.Ile259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "referenceAllele": "T",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.1276T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510834",
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Ile407Thr",
        "hgvsWellDefined": "NP_001336665.1:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139731167",
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Ile407Thr",
        "hgvsWellDefined": "NP_005202.2:p.Ile407Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.1347T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}