{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5969930",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.2318G>A (p.Arg773His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327817[alleleid]",
        "alleleId": 327817,
        "preferredName": "NM_002334.4(LRP4):c.2318G>A (p.Arg773His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304880",
        "RCV": [
          "RCV000275970",
          "RCV001070370"
        ],
        "variationId": 304880
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-46907982-C-T",
        "id": "11-46907982-C-T",
        "variant": "11:46907982 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46907982C>T?assembly=hg19",
        "id": "chr11:g.46907982C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46886431C>T?assembly=hg38",
        "id": "chr11:g.46886431C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374890595",
        "rs": 374890595
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46907982-C-T?dataset=gnomad_r2_1",
        "id": "11-46907982-C-T",
        "variant": "11:46907982 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46886431-C-T?dataset=gnomad_r3",
        "id": "11-46886431-C-T",
        "variant": "11:46886431 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46886431-C-T?dataset=gnomad_r4",
        "id": "11-46886431-C-T",
        "variant": "11:46886431 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46886431,
          "referenceAllele": "C",
          "start": 46886430
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46886431C>T",
        "CM000673.2:g.46886431C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46907982,
          "referenceAllele": "C",
          "start": 46907981
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46907982C>T",
        "CM000673.1:g.46907982C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46864558,
          "referenceAllele": "C",
          "start": 46864557
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46864558C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37192,
          "referenceAllele": "G",
          "start": 37191
        }
      ],
      "hgvs": [
        "NG_021394.1:g.37192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2489,
          "referenceAllele": "G",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.2318G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Arg773His",
        "hgvsWellDefined": "ENSP00000367888.1:p.Arg773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.2318G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.2318G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Arg773His"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Arg773His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.2318G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Arg773His",
        "hgvsWellDefined": "ENSP00000367888.1:p.Arg773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000529921.1:n.349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645439618",
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.2318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Arg773His",
        "hgvsWellDefined": "NP_002325.2:p.Arg773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "G",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.2531G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Arg844His",
        "hgvsWellDefined": "XP_011518404.1:p.Arg844His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Arg505His",
        "hgvsWellDefined": "XP_011518405.1:p.Arg505His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.1:c.83G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Arg28His",
        "hgvsWellDefined": "XP_011518406.1:p.Arg28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Arg505His",
        "hgvsWellDefined": "XP_011518405.1:p.Arg505His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.2:c.83G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Arg28His",
        "hgvsWellDefined": "XP_011518406.1:p.Arg28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "G",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.2318G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Arg773His",
        "hgvsWellDefined": "XP_016873223.1:p.Arg773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645439618",
      "coordinates": [
        {
          "allele": "A",
          "end": 2489,
          "referenceAllele": "G",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.2318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Arg773His",
        "hgvsWellDefined": "NP_002325.2:p.Arg773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.2318G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.2318G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Arg773His"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Arg773His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}