{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010806",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23647[alleleid]",
        "alleleId": 23647,
        "preferredName": "NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8608",
        "RCV": [
          "RCV000009139",
          "RCV000035424",
          "RCV000158104",
          "RCV000201915",
          "RCV000199033",
          "RCV000247235",
          "RCV000505586",
          "RCV000627130",
          "RCV001170957",
          "RCV003332998",
          "RCV003387501"
        ],
        "variationId": 8608
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47364129-C-G",
        "id": "11-47364129-C-G",
        "variant": "11:47364129 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47364129C>G?assembly=hg19",
        "id": "chr11:g.47364129C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47342578C>G?assembly=hg38",
        "id": "chr11:g.47342578C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909374",
        "rs": 121909374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47364129-C-G?dataset=gnomad_r2_1",
        "id": "11-47364129-C-G",
        "variant": "11:47364129 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47342578-C-G?dataset=gnomad_r3",
        "id": "11-47342578-C-G",
        "variant": "11:47342578 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47342578-C-G?dataset=gnomad_r4",
        "id": "11-47342578-C-G",
        "variant": "11:47342578 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 47342578,
          "referenceAllele": "C",
          "start": 47342577
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47342578C>G",
        "CM000673.2:g.47342578C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 47364129,
          "referenceAllele": "C",
          "start": 47364128
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47364129C>G",
        "CM000673.1:g.47364129C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 47320705,
          "referenceAllele": "C",
          "start": 47320704
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47320705C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15125,
          "referenceAllele": "G",
          "start": 15124
        }
      ],
      "hgvs": [
        "NG_007667.1:g.15125G>C",
        "LRG_386:g.15125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Glu542Gln",
        "hgvsWellDefined": "ENSP00000442795.1:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.1624G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.1624G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Glu542Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Glu542Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Glu542Gln",
        "hgvsWellDefined": "ENSP00000256993.5:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Glu542Gln",
        "hgvsWellDefined": "ENSP00000382193.2:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000544791.1:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444259.1:p.Glu542Gln",
        "hgvsWellDefined": "ENSP00000444259.1:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.5:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Glu542Gln",
        "hgvsWellDefined": "ENSP00000442795.1:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097008",
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.1624G>C",
        "LRG_386t1:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Glu542Gln",
        "hgvsWellDefined": "NP_000247.2:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.1624G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.1624G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Glu542Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Glu542Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.1606G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Glu536Gln",
        "hgvsWellDefined": "XP_011518419.1:p.Glu536Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.1624G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Glu542Gln",
        "hgvsWellDefined": "XP_011518420.1:p.Glu542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}