{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA014486",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5898502",
        "active": true,
        "id": "COSM5898502"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197721[alleleid]",
        "alleleId": 197721,
        "preferredName": "NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200024",
        "RCV": [
          "RCV000181495",
          "RCV000771907",
          "RCV000541139",
          "RCV003996684",
          "RCV003330541"
        ],
        "variationId": 200024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-48776135-C-T",
        "id": "15-48776135-C-T",
        "variant": "15:48776135 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48776135C>T?assembly=hg19",
        "id": "chr15:g.48776135C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48483938C>T?assembly=hg38",
        "id": "chr15:g.48483938C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/573187346",
        "rs": 573187346
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48776135-C-T?dataset=gnomad_r2_1",
        "id": "15-48776135-C-T",
        "variant": "15:48776135 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48483938-C-T?dataset=gnomad_r3",
        "id": "15-48483938-C-T",
        "variant": "15:48483938 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48483938-C-T?dataset=gnomad_r4",
        "id": "15-48483938-C-T",
        "variant": "15:48483938 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48483938,
          "referenceAllele": "C",
          "start": 48483937
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48483938C>T",
        "CM000677.2:g.48483938C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48776135,
          "referenceAllele": "C",
          "start": 48776134
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48776135C>T",
        "CM000677.1:g.48776135C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46563427,
          "referenceAllele": "C",
          "start": 46563426
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46563427C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166851,
          "referenceAllele": "G",
          "start": 166850
        }
      ],
      "hgvs": [
        "NG_008805.2:g.166851G>A",
        "LRG_778:g.166851G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4034,
          "referenceAllele": "G",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Asp1240Asn",
        "hgvsWellDefined": "ENSP00000453958.2:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4034,
          "referenceAllele": "G",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Asp1240Asn",
        "hgvsWellDefined": "ENSP00000501333.2:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2392,
          "referenceAllele": "G",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.2392G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4034,
          "referenceAllele": "G",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp1240Asn",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.3718G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.3718G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp1240Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp1240Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4174,
          "referenceAllele": "G",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp1240Asn",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 9287,
          "referenceAllele": "G",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 9288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-9288G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-9288G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304118",
      "coordinates": [
        {
          "allele": "A",
          "end": 4113,
          "referenceAllele": "G",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.3718G>A",
        "LRG_778t1:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp1240Asn",
        "hgvsWellDefined": "NP_000129.3:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304118",
      "coordinates": [
        {
          "allele": "A",
          "end": 4034,
          "referenceAllele": "G",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.3718G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp1240Asn",
        "hgvsWellDefined": "NP_000129.3:p.Asp1240Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.3718G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.3718G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp1240Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp1240Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}