{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6320668",
  "communityStandardTitle": [
    "NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1351878",
        "active": true,
        "id": "COSM1351878"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=325769[alleleid]",
        "alleleId": 325769,
        "preferredName": "NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302979",
        "RCV": [
          "RCV000263849",
          "RCV000376626",
          "RCV003258750",
          "RCV001107271"
        ],
        "variationId": 302979
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-119216837-G-A",
        "id": "11-119216837-G-A",
        "variant": "11:119216837 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119216837G>A?assembly=hg19",
        "id": "chr11:g.119216837G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119346127G>A?assembly=hg38",
        "id": "chr11:g.119346127G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147490836",
        "rs": 147490836
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119216837-G-A?dataset=gnomad_r2_1",
        "id": "11-119216837-G-A",
        "variant": "11:119216837 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119346127-G-A?dataset=gnomad_r3",
        "id": "11-119346127-G-A",
        "variant": "11:119346127 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119346127-G-A?dataset=gnomad_r4",
        "id": "11-119346127-G-A",
        "variant": "11:119346127 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119346127,
          "referenceAllele": "G",
          "start": 119346126
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119346127G>A",
        "CM000673.2:g.119346127G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119216837,
          "referenceAllele": "G",
          "start": 119216836
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119216837G>A",
        "CM000673.1:g.119216837G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118722047,
          "referenceAllele": "G",
          "start": 118722046
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118722047G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5547,
          "referenceAllele": "C",
          "start": 5546
        }
      ],
      "hgvs": [
        "NG_012235.1:g.5547C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.6:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Arg64Cys",
        "hgvsWellDefined": "ENSP00000481824.1:p.Arg64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Arg64Cys"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Arg64Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000360167.4:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353291.4:p.Arg64Cys",
        "hgvsWellDefined": "ENSP00000353291.4:p.Arg64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000526059.1:n.348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000529147.2:n.153C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.5:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Arg64Cys",
        "hgvsWellDefined": "ENSP00000481824.1:p.Arg64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000634542.1:c.87C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488979.1:p.Ala29="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.4:c.-2447C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-2447C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475925",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.3:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Arg64Cys",
        "hgvsWellDefined": "NP_113621.1:p.Arg64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475925",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.4:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Arg64Cys",
        "hgvsWellDefined": "NP_113621.1:p.Arg64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Arg64Cys"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Arg64Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.5:c.-2447C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-2447C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697587"
    }
  ],
  "type": "nucleotide"
}