{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9886547",
  "communityStandardTitle": [
    "NM_004994.3(MMP9):c.840C>T (p.Asp280=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6284708"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=717012[alleleid]",
        "alleleId": 717012,
        "preferredName": "NM_004994.3(MMP9):c.840C>T (p.Asp280=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/782929",
        "RCV": [
          "RCV000964394",
          "RCV001138555",
          "RCV003935982"
        ],
        "variationId": 782929
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-44640229-C-T",
        "id": "20-44640229-C-T",
        "variant": "20:44640229 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44640229C>T?assembly=hg19",
        "id": "chr20:g.44640229C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.46011590C>T?assembly=hg38",
        "id": "chr20:g.46011590C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45437897",
        "rs": 45437897
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44640229-C-T?dataset=gnomad_r2_1",
        "id": "20-44640229-C-T",
        "variant": "20:44640229 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46011590-C-T?dataset=gnomad_r3",
        "id": "20-46011590-C-T",
        "variant": "20:46011590 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46011590-C-T?dataset=gnomad_r4",
        "id": "20-46011590-C-T",
        "variant": "20:46011590 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 46011590,
          "referenceAllele": "C",
          "start": 46011589
        }
      ],
      "hgvs": [
        "NC_000020.11:g.46011590C>T",
        "CM000682.2:g.46011590C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44640229,
          "referenceAllele": "C",
          "start": 44640228
        }
      ],
      "hgvs": [
        "NC_000020.10:g.44640229C>T",
        "CM000682.1:g.44640229C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44073636,
          "referenceAllele": "C",
          "start": 44073635
        }
      ],
      "hgvs": [
        "NC_000020.9:g.44073636C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7683,
          "referenceAllele": "C",
          "start": 7682
        }
      ],
      "hgvs": [
        "NG_011468.1:g.7683C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001736"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007176",
      "geneNCBI_id": 4318,
      "geneSymbol": "MMP9",
      "hgvs": [
        "ENST00000372330.3:c.840C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361405.3:p.Asp280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269041",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372330.3:c.840C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004994.3:c.840C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361405.3:p.Asp280="
          },
          "RefSeq": {
            "hgvs": "NP_004985.2:p.Asp280="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565952",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007176",
      "geneNCBI_id": 4318,
      "geneSymbol": "MMP9",
      "hgvs": [
        "NM_004994.2:c.840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004985.2:p.Asp280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565952",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007176",
      "geneNCBI_id": 4318,
      "geneSymbol": "MMP9",
      "hgvs": [
        "NM_004994.3:c.840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004985.2:p.Asp280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372330.3:c.840C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004994.3:c.840C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361405.3:p.Asp280="
          },
          "RefSeq": {
            "hgvs": "NP_004985.2:p.Asp280="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}