{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368991472",
  "communityStandardTitle": [
    "NM_000245.4(MET):c.3658G>T (p.Val1220Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2777481[alleleid]",
        "alleleId": 2777481,
        "preferredName": "NM_000245.4(MET):c.3658G>T (p.Val1220Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2612857",
        "RCV": [
          "RCV003369926"
        ],
        "variationId": 2612857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116423383G>T?assembly=hg19",
        "id": "chr7:g.116423383G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116783329G>T?assembly=hg38",
        "id": "chr7:g.116783329G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913670",
        "rs": 121913670
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116783329,
          "referenceAllele": "G",
          "start": 116783328
        }
      ],
      "hgvs": [
        "NC_000007.14:g.116783329G>T",
        "CM000669.2:g.116783329G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116423383,
          "referenceAllele": "G",
          "start": 116423382
        }
      ],
      "hgvs": [
        "NC_000007.13:g.116423383G>T",
        "CM000669.1:g.116423383G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116210619,
          "referenceAllele": "G",
          "start": 116210618
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116210619G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115925,
          "referenceAllele": "G",
          "start": 115924
        }
      ],
      "hgvs": [
        "NG_008996.1:g.115925G>T",
        "LRG_662:g.115925G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3954,
          "referenceAllele": "G",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000436117.3:c.*1263G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410980.2:n.*1263G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4108,
          "referenceAllele": "G",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.11:c.3712G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.Val1238Phe",
        "hgvsWellDefined": "ENSP00000317272.6:p.Val1238Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4054,
          "referenceAllele": "G",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.8:c.3658G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.Val1220Phe",
        "hgvsWellDefined": "ENSP00000380860.3:p.Val1220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3658G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3658G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.Val1220Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.Val1220Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3899,
          "referenceAllele": "G",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.10:c.3712G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.Val1238Phe",
        "hgvsWellDefined": "ENSP00000317272.6:p.Val1238Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3858,
          "referenceAllele": "G",
          "start": 3857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.7:c.3658G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.Val1220Phe",
        "hgvsWellDefined": "ENSP00000380860.3:p.Val1220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825104086",
      "coordinates": [
        {
          "allele": "T",
          "end": 3845,
          "referenceAllele": "G",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.2:c.3658G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Val1220Phe",
        "hgvsWellDefined": "NP_000236.2:p.Val1220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622232",
      "coordinates": [
        {
          "allele": "T",
          "end": 3899,
          "referenceAllele": "G",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.1:c.3712G>T",
        "LRG_662t1:c.3712G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Val1238Phe",
        "hgvsWellDefined": "NP_001120972.1:p.Val1238Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2599,
          "referenceAllele": "G",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715990.2:c.2368G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716053.1:p.Val790Phe",
        "hgvsWellDefined": "XP_006716053.1:p.Val790Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "G",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715991.2:c.2368G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716054.1:p.Val790Phe",
        "hgvsWellDefined": "XP_006716054.1:p.Val790Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3889,
          "referenceAllele": "G",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_011516223.1:c.3715G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514525.1:p.Val1239Phe",
        "hgvsWellDefined": "XP_011514525.1:p.Val1239Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825104086",
      "coordinates": [
        {
          "allele": "T",
          "end": 3860,
          "referenceAllele": "G",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.3:c.3658G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Val1220Phe",
        "hgvsWellDefined": "NP_000236.2:p.Val1220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622232",
      "coordinates": [
        {
          "allele": "T",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.2:c.3712G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Val1238Phe",
        "hgvsWellDefined": "NP_001120972.1:p.Val1238Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741862003",
      "coordinates": [
        {
          "allele": "T",
          "end": 2677,
          "referenceAllele": "G",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.1:c.2368G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.Val790Phe",
        "hgvsWellDefined": "NP_001311331.1:p.Val790Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XR_001744772.1:n.3789G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622232",
      "coordinates": [
        {
          "allele": "T",
          "end": 4108,
          "referenceAllele": "G",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.3:c.3712G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Val1238Phe",
        "hgvsWellDefined": "NP_001120972.1:p.Val1238Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825104086",
      "coordinates": [
        {
          "allele": "T",
          "end": 4054,
          "referenceAllele": "G",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.4:c.3658G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Val1220Phe",
        "hgvsWellDefined": "NP_000236.2:p.Val1220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3658G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3658G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.Val1220Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.Val1220Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741862003",
      "coordinates": [
        {
          "allele": "T",
          "end": 2840,
          "referenceAllele": "G",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.2:c.2368G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.Val790Phe",
        "hgvsWellDefined": "NP_001311331.1:p.Val790Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686384"
    }
  ],
  "type": "nucleotide"
}