{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013145",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51480[alleleid]",
        "alleleId": 51480,
        "preferredName": "NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42310",
        "RCV": [
          "RCV000035144",
          "RCV000697797",
          "RCV002426546"
        ],
        "variationId": 42310
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48787716C>G?assembly=hg19",
        "id": "chr15:g.48787716C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48495519C>G?assembly=hg38",
        "id": "chr15:g.48495519C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515774",
        "rs": 397515774
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48495519,
          "referenceAllele": "C",
          "start": 48495518
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48495519C>G",
        "CM000677.2:g.48495519C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48787716,
          "referenceAllele": "C",
          "start": 48787715
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48787716C>G",
        "CM000677.1:g.48787716C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46575008,
          "referenceAllele": "C",
          "start": 46575007
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46575008C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155270,
          "referenceAllele": "G",
          "start": 155269
        }
      ],
      "hgvs": [
        "NG_008805.2:g.155270G>C",
        "LRG_778:g.155270G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys830Ser",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Cys830Ser",
        "hgvsWellDefined": "ENSP00000501333.2:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.1163G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys830Ser",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2489G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2489G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys830Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys830Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys830Ser",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 20868,
          "referenceAllele": "G",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 20869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-20869G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-20869G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA282179",
      "coordinates": [
        {
          "allele": "C",
          "end": 2884,
          "referenceAllele": "G",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.2489G>C",
        "LRG_778t1:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys830Ser",
        "hgvsWellDefined": "NP_000129.3:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA282179",
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.2489G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys830Ser",
        "hgvsWellDefined": "NP_000129.3:p.Cys830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2489G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2489G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys830Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys830Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}