{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA014760",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3782884",
        "active": true,
        "id": "COSM3782884"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197710[alleleid]",
        "alleleId": 197710,
        "preferredName": "NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200036",
        "RCV": [
          "RCV000181508",
          "RCV000663695",
          "RCV000588449",
          "RCV000770671",
          "RCV001224814"
        ],
        "variationId": 200036
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48766566C>T?assembly=hg19",
        "id": "chr15:g.48766566C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48474369C>T?assembly=hg38",
        "id": "chr15:g.48474369C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763449629",
        "rs": 763449629
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48474369-C-T?dataset=gnomad_r4",
        "id": "15-48474369-C-T",
        "variant": "15:48474369 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48474369,
          "referenceAllele": "C",
          "start": 48474368
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48474369C>T",
        "CM000677.2:g.48474369C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48766566,
          "referenceAllele": "C",
          "start": 48766565
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48766566C>T",
        "CM000677.1:g.48766566C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46553858,
          "referenceAllele": "C",
          "start": 46553857
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46553858C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176420,
          "referenceAllele": "G",
          "start": 176419
        }
      ],
      "hgvs": [
        "NG_008805.2:g.176420G>A",
        "LRG_778:g.176420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4412,
          "referenceAllele": "G",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Glu1366Lys",
        "hgvsWellDefined": "ENSP00000453958.2:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4412,
          "referenceAllele": "G",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Glu1366Lys",
        "hgvsWellDefined": "ENSP00000501333.2:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2770,
          "referenceAllele": "G",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.2770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4412,
          "referenceAllele": "G",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Glu1366Lys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.4096G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.4096G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Glu1366Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Glu1366Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4552,
          "referenceAllele": "G",
          "start": 4551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Glu1366Lys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:p.Thr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304134",
      "coordinates": [
        {
          "allele": "A",
          "end": 4491,
          "referenceAllele": "G",
          "start": 4490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.4096G>A",
        "LRG_778t1:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Glu1366Lys",
        "hgvsWellDefined": "NP_000129.3:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304134",
      "coordinates": [
        {
          "allele": "A",
          "end": 4412,
          "referenceAllele": "G",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.4096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Glu1366Lys",
        "hgvsWellDefined": "NP_000129.3:p.Glu1366Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.4096G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.4096G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Glu1366Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Glu1366Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}