{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9210558",
  "communityStandardTitle": [
    "NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=349351[alleleid]",
        "alleleId": 349351,
        "preferredName": "NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328142",
        "RCV": [
          "RCV000367754"
        ],
        "variationId": 328142
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-11489048-G-A",
        "id": "19-11489048-G-A",
        "variant": "19:11489048 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11489048G>A?assembly=hg19",
        "id": "chr19:g.11489048G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11378372G>A?assembly=hg38",
        "id": "chr19:g.11378372G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199645071",
        "rs": 199645071
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11489048-G-A?dataset=gnomad_r2_1",
        "id": "19-11489048-G-A",
        "variant": "19:11489048 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11378372-G-A?dataset=gnomad_r3",
        "id": "19-11378372-G-A",
        "variant": "19:11378372 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11378372-G-A?dataset=gnomad_r4",
        "id": "19-11378372-G-A",
        "variant": "19:11378372 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11378372,
          "referenceAllele": "G",
          "start": 11378371
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11378372G>A",
        "CM000681.2:g.11378372G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11489048,
          "referenceAllele": "G",
          "start": 11489047
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11489048G>A",
        "CM000681.1:g.11489048G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11350048,
          "referenceAllele": "G",
          "start": 11350047
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11350048G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10971,
          "referenceAllele": "C",
          "start": 10970
        }
      ],
      "hgvs": [
        "NG_021395.1:g.10971C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003622"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000222139.11:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222139.5:p.Pro380Leu",
        "hgvsWellDefined": "ENSP00000222139.5:p.Pro380Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740548",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222139.11:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000121.4:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222139.5:p.Pro380Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000112.1:p.Pro380Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000222139.10:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222139.5:p.Pro380Leu",
        "hgvsWellDefined": "ENSP00000222139.5:p.Pro380Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000586890.5:c.*882C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467230.1:n.*882C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000588681.5:n.1524C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000588859.5:c.*882C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466784.1:n.*882C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000590927.1:n.762C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000591958.5:c.*517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468187.1:n.*517C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "ENST00000592375.6:c.*247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467809.2:n.*247C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474109",
      "coordinates": [
        {
          "allele": "T",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "NM_000121.3:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000112.1:p.Pro380Leu",
        "hgvsWellDefined": "NP_000112.1:p.Pro380Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "NR_033663.1:n.1524C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474109",
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "NM_000121.4:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000112.1:p.Pro380Leu",
        "hgvsWellDefined": "NP_000112.1:p.Pro380Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222139.11:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000121.4:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222139.5:p.Pro380Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000112.1:p.Pro380Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "NR_033663.2:n.1496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702144"
    }
  ],
  "type": "nucleotide"
}