{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA045042",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230589[alleleid]",
        "alleleId": 230589,
        "preferredName": "NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228683",
        "RCV": [
          "RCV002494568",
          "RCV003997738",
          "RCV000216459",
          "RCV001180053",
          "RCV001296986"
        ],
        "variationId": 228683
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-48805763-G-A",
        "id": "15-48805763-G-A",
        "variant": "15:48805763 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48805763G>A?assembly=hg19",
        "id": "chr15:g.48805763G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48513566G>A?assembly=hg38",
        "id": "chr15:g.48513566G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370575495",
        "rs": 370575495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48805763-G-A?dataset=gnomad_r2_1",
        "id": "15-48805763-G-A",
        "variant": "15:48805763 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48513566-G-A?dataset=gnomad_r3",
        "id": "15-48513566-G-A",
        "variant": "15:48513566 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48513566-G-A?dataset=gnomad_r4",
        "id": "15-48513566-G-A",
        "variant": "15:48513566 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48513566,
          "referenceAllele": "G",
          "start": 48513565
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48513566G>A",
        "CM000677.2:g.48513566G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48805763,
          "referenceAllele": "G",
          "start": 48805762
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48805763G>A",
        "CM000677.1:g.48805763G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46593055,
          "referenceAllele": "G",
          "start": 46593054
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46593055G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137223,
          "referenceAllele": "C",
          "start": 137222
        }
      ],
      "hgvs": [
        "NG_008805.2:g.137223C>T",
        "LRG_778:g.137223C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Thr524Met",
        "hgvsWellDefined": "ENSP00000453958.2:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Thr524Met",
        "hgvsWellDefined": "ENSP00000501333.2:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.245C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Thr524Met",
        "hgvsWellDefined": "ENSP00000325527.5:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1571C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1571C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Thr524Met"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Thr524Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Thr524Met",
        "hgvsWellDefined": "ENSP00000325527.5:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "endIntronDirection": "+",
          "endIntronOffset": 24145,
          "referenceAllele": "C",
          "start": 952,
          "startIntronDirection": "+",
          "startIntronOffset": 24144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.636+24145C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.636+24145C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404109",
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.1571C>T",
        "LRG_778t1:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Thr524Met",
        "hgvsWellDefined": "NP_000129.3:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404109",
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Thr524Met",
        "hgvsWellDefined": "NP_000129.3:p.Thr524Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1571C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1571C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Thr524Met"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Thr524Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}