{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5968996",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.5520T>C (p.His1840=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327798[alleleid]",
        "alleleId": 327798,
        "preferredName": "NM_002334.4(LRP4):c.5520T>C (p.His1840=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304846",
        "RCV": [
          "RCV000536074",
          "RCV000394958",
          "RCV004544514"
        ],
        "variationId": 304846
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-46880732-A-G",
        "id": "11-46880732-A-G",
        "variant": "11:46880732 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46880732A>G?assembly=hg19",
        "id": "chr11:g.46880732A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46859181A>G?assembly=hg38",
        "id": "chr11:g.46859181A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144350829",
        "rs": 144350829
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46880732-A-G?dataset=gnomad_r2_1",
        "id": "11-46880732-A-G",
        "variant": "11:46880732 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46859181-A-G?dataset=gnomad_r3",
        "id": "11-46859181-A-G",
        "variant": "11:46859181 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46859181-A-G?dataset=gnomad_r4",
        "id": "11-46859181-A-G",
        "variant": "11:46859181 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 46859181,
          "referenceAllele": "A",
          "start": 46859180
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46859181A>G",
        "CM000673.2:g.46859181A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 46880732,
          "referenceAllele": "A",
          "start": 46880731
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46880732A>G",
        "CM000673.1:g.46880732A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 46837308,
          "referenceAllele": "A",
          "start": 46837307
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46837308A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64442,
          "referenceAllele": "T",
          "start": 64441
        }
      ],
      "hgvs": [
        "NG_021394.1:g.64442T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5691,
          "referenceAllele": "T",
          "start": 5690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.5520T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.His1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.5520T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.5520T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.His1840="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.His1840="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5763,
          "referenceAllele": "T",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.5520T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.His1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000529604.1:n.463T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829377099",
      "coordinates": [
        {
          "allele": "C",
          "end": 5763,
          "referenceAllele": "T",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.5520T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.His1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 12464,
          "referenceAllele": "A",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 12463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044128",
      "geneNCBI_id": 100507401,
      "geneSymbol": "LRP4-AS1",
      "hgvs": [
        "NR_038909.1:n.197+12464A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5748,
          "referenceAllele": "T",
          "start": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.5733T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.His1911="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4821,
          "referenceAllele": "T",
          "start": 4820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.4716T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.His1572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3300,
          "referenceAllele": "T",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.1:c.3285T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.His1095="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4833,
          "referenceAllele": "T",
          "start": 4832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.4716T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.His1572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3300,
          "referenceAllele": "T",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.2:c.3285T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.His1095="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829377099",
      "coordinates": [
        {
          "allele": "C",
          "end": 5691,
          "referenceAllele": "T",
          "start": 5690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.5520T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.His1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.5520T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.5520T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.His1840="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.His1840="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}