{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404891887",
  "communityStandardTitle": [
    "NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4561083",
        "active": true,
        "id": "COSM4561083"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671859[alleleid]",
        "alleleId": 1671859,
        "preferredName": "NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679945",
        "RCV": [
          "RCV002227954"
        ],
        "variationId": 1679945
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18899128C>A?assembly=hg19",
        "id": "chr19:g.18899128C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18788319C>A?assembly=hg38",
        "id": "chr19:g.18788319C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2145903266",
        "rs": 2145903266
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18788319,
          "referenceAllele": "C",
          "start": 18788318
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18788319C>A",
        "CM000681.2:g.18788319C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18899128,
          "referenceAllele": "C",
          "start": 18899127
        }
      ],
      "hgvs": [
        "NC_000019.9:g.18899128C>A",
        "CM000681.1:g.18899128C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18760128,
          "referenceAllele": "C",
          "start": 18760127
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18760128C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7987,
          "referenceAllele": "G",
          "start": 7986
        }
      ],
      "hgvs": [
        "NG_007070.1:g.7987G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000450"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000222271.7:c.868G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222271.2:p.Asp290Tyr",
        "hgvsWellDefined": "ENSP00000222271.2:p.Asp290Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222271.7:c.868G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000095.3:c.868G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222271.2:p.Asp290Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000086.2:p.Asp290Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000222271.6:c.868G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222271.2:p.Asp290Tyr",
        "hgvsWellDefined": "ENSP00000222271.2:p.Asp290Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000425807.1:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403792.1:p.Asp237Tyr",
        "hgvsWellDefined": "ENSP00000403792.1:p.Asp237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000542601.6:c.769G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439156.2:p.Asp257Tyr",
        "hgvsWellDefined": "ENSP00000439156.2:p.Asp257Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162293",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NM_000095.2:c.868G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000086.2:p.Asp290Tyr",
        "hgvsWellDefined": "NP_000086.2:p.Asp290Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162293",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NM_000095.3:c.868G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000086.2:p.Asp290Tyr",
        "hgvsWellDefined": "NP_000086.2:p.Asp290Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222271.7:c.868G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000095.3:c.868G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222271.2:p.Asp290Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000086.2:p.Asp290Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}