{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5970323",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.933A>G (p.Gln311=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=868073[alleleid]",
        "alleleId": 868073,
        "preferredName": "NM_002334.4(LRP4):c.933A>G (p.Gln311=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/878164",
        "RCV": [
          "RCV001104533",
          "RCV002069728"
        ],
        "variationId": 878164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-46917876-T-C",
        "id": "11-46917876-T-C",
        "variant": "11:46917876 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46917876T>C?assembly=hg19",
        "id": "chr11:g.46917876T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46896325T>C?assembly=hg38",
        "id": "chr11:g.46896325T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375108263",
        "rs": 375108263
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46917876-T-C?dataset=gnomad_r2_1",
        "id": "11-46917876-T-C",
        "variant": "11:46917876 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46896325-T-C?dataset=gnomad_r3",
        "id": "11-46896325-T-C",
        "variant": "11:46896325 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46896325-T-C?dataset=gnomad_r4",
        "id": "11-46896325-T-C",
        "variant": "11:46896325 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46896325,
          "referenceAllele": "T",
          "start": 46896324
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46896325T>C",
        "CM000673.2:g.46896325T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46917876,
          "referenceAllele": "T",
          "start": 46917875
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46917876T>C",
        "CM000673.1:g.46917876T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46874452,
          "referenceAllele": "T",
          "start": 46874451
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46874452T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27298,
          "referenceAllele": "A",
          "start": 27297
        }
      ],
      "hgvs": [
        "NG_021394.1:g.27298A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "A",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.933A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.933A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.933A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Gln311="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Gln311="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.933A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829376868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.933A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "A",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.1146A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Gln382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.129A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Gln43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.129A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Gln43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.933A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829376868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "A",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.933A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.933A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.933A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Gln311="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Gln311="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}