{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5252617",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1852+21C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=565500[alleleid]",
        "alleleId": 565500,
        "preferredName": "NM_001114753.3(ENG):c.1852+21C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577031",
        "RCV": [
          "RCV000699684",
          "RCV001201352"
        ],
        "variationId": 577031
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-130578201-G-C",
        "id": "9-130578201-G-C",
        "variant": "9:130578201 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130578201G>C?assembly=hg19",
        "id": "chr9:g.130578201G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127815922G>C?assembly=hg38",
        "id": "chr9:g.127815922G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147188969",
        "rs": 147188969
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130578201-G-C?dataset=gnomad_r2_1",
        "id": "9-130578201-G-C",
        "variant": "9:130578201 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127815922-G-C?dataset=gnomad_r3",
        "id": "9-127815922-G-C",
        "variant": "9:127815922 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127815922-G-C?dataset=gnomad_r4",
        "id": "9-127815922-G-C",
        "variant": "9:127815922 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 127815922,
          "referenceAllele": "G",
          "start": 127815921
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127815922G>C",
        "CM000671.2:g.127815922G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130578201,
          "referenceAllele": "G",
          "start": 130578200
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130578201G>C",
        "CM000671.1:g.130578201G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 129618022,
          "referenceAllele": "G",
          "start": 129618021
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129618022G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43847,
          "referenceAllele": "C",
          "start": 43846
        }
      ],
      "hgvs": [
        "NG_009551.1:g.43847C>G",
        "LRG_589:g.43847C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18048,
          "referenceAllele": "G",
          "start": 18047
        }
      ],
      "hgvs": [
        "NG_023245.1:g.18048G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2014,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.1306+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.1306+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2155,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.1852+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:n.1852+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1852+21C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1852+21C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:n.1852+21C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:n.1852+21C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.1873C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Gln625Glu",
        "hgvsWellDefined": "ENSP00000341917.3:p.Gln625Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2253,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.1852+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:n.1852+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2010,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.1306+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.1306+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891844912",
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.1873C>G",
        "LRG_589t1:c.1873C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Gln625Glu",
        "hgvsWellDefined": "NP_000109.1:p.Gln625Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.1852+21C>G",
        "LRG_589t2:c.1852+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:n.1852+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2010,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.1306+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.1306+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 2155,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.1852+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:n.1852+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1852+21C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1852+21C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:n.1852+21C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:n.1852+21C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1978,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 1978,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.1306+21C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.1306+21C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}