{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA014752",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=470735",
        "active": true,
        "id": "COSM470735"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197711[alleleid]",
        "alleleId": 197711,
        "preferredName": "NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200035",
        "RCV": [
          "RCV000181507",
          "RCV001852279"
        ],
        "variationId": 200035
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48766568T>C?assembly=hg19",
        "id": "chr15:g.48766568T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48474371T>C?assembly=hg38",
        "id": "chr15:g.48474371T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728217",
        "rs": 794728217
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48474371-T-C?dataset=gnomad_r4",
        "id": "15-48474371-T-C",
        "variant": "15:48474371 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48474371,
          "referenceAllele": "T",
          "start": 48474370
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48474371T>C",
        "CM000677.2:g.48474371T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48766568,
          "referenceAllele": "T",
          "start": 48766567
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48766568T>C",
        "CM000677.1:g.48766568T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46553860,
          "referenceAllele": "T",
          "start": 46553859
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46553860T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 176418,
          "referenceAllele": "A",
          "start": 176417
        }
      ],
      "hgvs": [
        "NG_008805.2:g.176418A>G",
        "LRG_778:g.176418A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4410,
          "referenceAllele": "A",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Asp1365Gly",
        "hgvsWellDefined": "ENSP00000453958.2:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4410,
          "referenceAllele": "A",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Asp1365Gly",
        "hgvsWellDefined": "ENSP00000501333.2:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "referenceAllele": "A",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.2768A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4410,
          "referenceAllele": "A",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp1365Gly",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.4094A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.4094A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp1365Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp1365Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4550,
          "referenceAllele": "A",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asp1365Gly",
        "hgvsWellDefined": "ENSP00000325527.5:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:p.Thr256Ala",
        "hgvsWellDefined": "ENSP00000440294.2:p.Thr256Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304132",
      "coordinates": [
        {
          "allele": "G",
          "end": 4489,
          "referenceAllele": "A",
          "start": 4488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.4094A>G",
        "LRG_778t1:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp1365Gly",
        "hgvsWellDefined": "NP_000129.3:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304132",
      "coordinates": [
        {
          "allele": "G",
          "end": 4410,
          "referenceAllele": "A",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.4094A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asp1365Gly",
        "hgvsWellDefined": "NP_000129.3:p.Asp1365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.4094A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.4094A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asp1365Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asp1365Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}