{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221506",
  "communityStandardTitle": [
    "NM_000245.4(MET):c.3281A>G (p.His1094Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=703",
        "active": true,
        "id": "COSM703"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28926[alleleid]",
        "alleleId": 28926,
        "preferredName": "NM_000245.4(MET):c.3281A>G (p.His1094Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13887",
        "RCV": [
          "RCV000014901",
          "RCV000079490",
          "RCV000433739",
          "RCV001376564",
          "RCV002321481",
          "RCV003407332"
        ],
        "variationId": 13887
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-116417464-A-G",
        "id": "7-116417464-A-G",
        "variant": "7:116417464 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116417464A>G?assembly=hg19",
        "id": "chr7:g.116417464A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116777410A>G?assembly=hg38",
        "id": "chr7:g.116777410A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913243",
        "rs": 121913243
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-116417464-A-G?dataset=gnomad_r2_1",
        "id": "7-116417464-A-G",
        "variant": "7:116417464 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-116777410-A-G?dataset=gnomad_r4",
        "id": "7-116777410-A-G",
        "variant": "7:116777410 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 116777410,
          "referenceAllele": "A",
          "start": 116777409
        }
      ],
      "hgvs": [
        "NC_000007.14:g.116777410A>G",
        "CM000669.2:g.116777410A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 116417464,
          "referenceAllele": "A",
          "start": 116417463
        }
      ],
      "hgvs": [
        "NC_000007.13:g.116417464A>G",
        "CM000669.1:g.116417464A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 116204700,
          "referenceAllele": "A",
          "start": 116204699
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116204700A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110006,
          "referenceAllele": "A",
          "start": 110005
        }
      ],
      "hgvs": [
        "NG_008996.1:g.110006A>G",
        "LRG_662:g.110006A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3577,
          "referenceAllele": "A",
          "start": 3576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000436117.3:c.*886A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410980.2:n.*886A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3731,
          "referenceAllele": "A",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.11:c.3335A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.His1112Arg",
        "hgvsWellDefined": "ENSP00000317272.6:p.His1112Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3677,
          "referenceAllele": "A",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.8:c.3281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.His1094Arg",
        "hgvsWellDefined": "ENSP00000380860.3:p.His1094Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3281A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3281A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.His1094Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.His1094Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "A",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.10:c.3335A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.His1112Arg",
        "hgvsWellDefined": "ENSP00000317272.6:p.His1112Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3481,
          "referenceAllele": "A",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.7:c.3281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.His1094Arg",
        "hgvsWellDefined": "ENSP00000380860.3:p.His1094Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093718",
      "coordinates": [
        {
          "allele": "G",
          "end": 3468,
          "referenceAllele": "A",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.2:c.3281A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.His1094Arg",
        "hgvsWellDefined": "NP_000236.2:p.His1094Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA221508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "A",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.1:c.3335A>G",
        "LRG_662t1:c.3335A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.His1112Arg",
        "hgvsWellDefined": "NP_001120972.1:p.His1112Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2222,
          "referenceAllele": "A",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715990.2:c.1991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716053.1:p.His664Arg",
        "hgvsWellDefined": "XP_006716053.1:p.His664Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2204,
          "referenceAllele": "A",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715991.2:c.1991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716054.1:p.His664Arg",
        "hgvsWellDefined": "XP_006716054.1:p.His664Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3512,
          "referenceAllele": "A",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_011516223.1:c.3338A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514525.1:p.His1113Arg",
        "hgvsWellDefined": "XP_011514525.1:p.His1113Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093718",
      "coordinates": [
        {
          "allele": "G",
          "end": 3483,
          "referenceAllele": "A",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.3:c.3281A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.His1094Arg",
        "hgvsWellDefined": "NP_000236.2:p.His1094Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA221508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3537,
          "referenceAllele": "A",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.2:c.3335A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.His1112Arg",
        "hgvsWellDefined": "NP_001120972.1:p.His1112Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027533",
      "coordinates": [
        {
          "allele": "G",
          "end": 2300,
          "referenceAllele": "A",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.1:c.1991A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.His664Arg",
        "hgvsWellDefined": "NP_001311331.1:p.His664Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3412,
          "referenceAllele": "A",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XR_001744772.1:n.3412A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA221508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3731,
          "referenceAllele": "A",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.3:c.3335A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.His1112Arg",
        "hgvsWellDefined": "NP_001120972.1:p.His1112Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093718",
      "coordinates": [
        {
          "allele": "G",
          "end": 3677,
          "referenceAllele": "A",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.4:c.3281A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.His1094Arg",
        "hgvsWellDefined": "NP_000236.2:p.His1094Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3281A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3281A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.His1094Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.His1094Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027533",
      "coordinates": [
        {
          "allele": "G",
          "end": 2463,
          "referenceAllele": "A",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.2:c.1991A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.His664Arg",
        "hgvsWellDefined": "NP_001311331.1:p.His664Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686384"
    }
  ],
  "type": "nucleotide"
}