{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA046238",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.1884C>T (p.Cys628=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4683784"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242080[alleleid]",
        "alleleId": 242080,
        "preferredName": "NM_000138.5(FBN1):c.1884C>T (p.Cys628=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237081",
        "RCV": [
          "RCV000232001",
          "RCV001120105",
          "RCV001120398",
          "RCV001120104",
          "RCV001120106",
          "RCV001120397",
          "RCV001120395",
          "RCV001120396"
        ],
        "variationId": 237081
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-48797298-G-A",
        "id": "15-48797298-G-A",
        "variant": "15:48797298 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48797298G>A?assembly=hg19",
        "id": "chr15:g.48797298G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48505101G>A?assembly=hg38",
        "id": "chr15:g.48505101G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150421653",
        "rs": 150421653
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48797298-G-A?dataset=gnomad_r2_1",
        "id": "15-48797298-G-A",
        "variant": "15:48797298 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48505101-G-A?dataset=gnomad_r3",
        "id": "15-48505101-G-A",
        "variant": "15:48505101 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48505101-G-A?dataset=gnomad_r4",
        "id": "15-48505101-G-A",
        "variant": "15:48505101 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48505101,
          "referenceAllele": "G",
          "start": 48505100
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48505101G>A",
        "CM000677.2:g.48505101G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48797298,
          "referenceAllele": "G",
          "start": 48797297
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48797298G>A",
        "CM000677.1:g.48797298G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46584590,
          "referenceAllele": "G",
          "start": 46584589
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46584590G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145688,
          "referenceAllele": "C",
          "start": 145687
        }
      ],
      "hgvs": [
        "NG_008805.2:g.145688C>T",
        "LRG_778:g.145688C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1884C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1884C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys628="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 30450,
          "referenceAllele": "C",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 30451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-30451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-30451C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825057430",
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "C",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.1884C>T",
        "LRG_778t1:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825057430",
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.1884C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1884C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1884C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys628="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys628="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}