{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392329662",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.2934C>A (p.Asp978Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48782196G>T?assembly=hg19",
        "id": "chr15:g.48782196G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48489999G>T?assembly=hg38",
        "id": "chr15:g.48489999G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48489999,
          "referenceAllele": "G",
          "start": 48489998
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48489999G>T",
        "CM000677.2:g.48489999G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48782196,
          "referenceAllele": "G",
          "start": 48782195
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48782196G>T",
        "CM000677.1:g.48782196G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46569488,
          "referenceAllele": "G",
          "start": 46569487
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46569488G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160790,
          "referenceAllele": "C",
          "start": 160789
        }
      ],
      "hgvs": [
        "NG_008805.2:g.160790C>A",
        "LRG_778:g.160790C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "C",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Asp978Glu",
        "hgvsWellDefined": "ENSP00000453958.2:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "C",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Asp978Glu",
        "hgvsWellDefined": "ENSP00000501333.2:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.1608C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "C",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp978Glu",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2934C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2934C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp978Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp978Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3390,
          "referenceAllele": "C",
          "start": 3389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp978Glu",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 15348,
          "referenceAllele": "C",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-15349C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-15349C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303978",
      "coordinates": [
        {
          "allele": "A",
          "end": 3329,
          "referenceAllele": "C",
          "start": 3328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.2934C>A",
        "LRG_778t1:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp978Glu",
        "hgvsWellDefined": "NP_000129.3:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303978",
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "C",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.2934C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp978Glu",
        "hgvsWellDefined": "NP_000129.3:p.Asp978Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2934C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2934C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp978Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp978Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}