{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA295471",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.207G>A (p.Leu69=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3763659",
        "active": true,
        "id": "COSM3763659"
      },
      {
        "active": false,
        "id": "COSM4783682"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140911[alleleid]",
        "alleleId": 140911,
        "preferredName": "NM_001114753.3(ENG):c.207G>A (p.Leu69=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137208",
        "RCV": [
          "RCV000150652",
          "RCV002415613",
          "RCV000368171",
          "RCV001517824"
        ],
        "variationId": 137208
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-130605385-C-T",
        "id": "9-130605385-C-T",
        "variant": "9:130605385 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130605385C>T?assembly=hg19",
        "id": "chr9:g.130605385C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127843106C>T?assembly=hg38",
        "id": "chr9:g.127843106C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11545664",
        "rs": 11545664
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130605385-C-T?dataset=gnomad_r2_1",
        "id": "9-130605385-C-T",
        "variant": "9:130605385 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127843106-C-T?dataset=gnomad_r3",
        "id": "9-127843106-C-T",
        "variant": "9:127843106 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127843106-C-T?dataset=gnomad_r4",
        "id": "9-127843106-C-T",
        "variant": "9:127843106 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127843106,
          "referenceAllele": "C",
          "start": 127843105
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127843106C>T",
        "CM000671.2:g.127843106C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130605385,
          "referenceAllele": "C",
          "start": 130605384
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130605385C>T",
        "CM000671.1:g.130605385C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129645206,
          "referenceAllele": "C",
          "start": 129645205
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129645206C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16663,
          "referenceAllele": "G",
          "start": 16662
        }
      ],
      "hgvs": [
        "NG_009551.1:g.16663G>A",
        "LRG_589:g.16663G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.-340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.207G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.207G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Leu69="
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Leu69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.-340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043865",
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.207G>A",
        "LRG_589t1:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579018",
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.207G>A",
        "LRG_589t2:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.-340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579018",
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.207G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.207G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Leu69="
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Leu69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.-340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}