{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7012155",
  "communityStandardTitle": [
    "NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254872[alleleid]",
        "alleleId": 254872,
        "preferredName": "NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/255140",
        "RCV": [
          "RCV000251445",
          "RCV000348921",
          "RCV000894771"
        ],
        "variationId": 255140
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-78472425-G-C",
        "id": "13-78472425-G-C",
        "variant": "13:78472425 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.78472425G>C?assembly=hg19",
        "id": "chr13:g.78472425G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77898290G>C?assembly=hg38",
        "id": "chr13:g.77898290G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139317762",
        "rs": 139317762
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-78472425-G-C?dataset=gnomad_r2_1",
        "id": "13-78472425-G-C",
        "variant": "13:78472425 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77898290-G-C?dataset=gnomad_r3",
        "id": "13-77898290-G-C",
        "variant": "13:77898290 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77898290-G-C?dataset=gnomad_r4",
        "id": "13-77898290-G-C",
        "variant": "13:77898290 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77898290,
          "referenceAllele": "G",
          "start": 77898289
        }
      ],
      "hgvs": [
        "NC_000013.11:g.77898290G>C",
        "CM000675.2:g.77898290G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 78472425,
          "referenceAllele": "G",
          "start": 78472424
        }
      ],
      "hgvs": [
        "NC_000013.10:g.78472425G>C",
        "CM000675.1:g.78472425G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77370426,
          "referenceAllele": "G",
          "start": 77370425
        }
      ],
      "hgvs": [
        "NC_000013.9:g.77370426G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82240,
          "referenceAllele": "C",
          "start": 82239
        }
      ],
      "hgvs": [
        "NG_011630.2:g.82240C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81434,
          "referenceAllele": "C",
          "start": 81433
        }
      ],
      "hgvs": [
        "NG_011630.3:g.81434C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000475537.2:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487082.2:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000645696.1:c.583C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495984.1:n.583C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000646605.1:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494278.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000646607.2:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493527.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768969",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646607.2:c.1239C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001122659.3:c.1239C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493527.1:p.Ser413="
          },
          "RefSeq": {
            "hgvs": "NP_001116131.1:p.Ser413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000646948.1:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493895.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000334286.7:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335311.5:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000377211.8:c.1509C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366416.4:p.Ser503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 1569,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "ENST00000626030.1:c.1194+1569C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486202.1:n.1194+1569C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.3:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825585000",
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001122659.2:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116131.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253688",
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001201397.1:c.1509C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188326.1:p.Ser503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1452,
          "endIntronDirection": "+",
          "endIntronOffset": 1569,
          "referenceAllele": "C",
          "start": 1452,
          "startIntronDirection": "+",
          "startIntronOffset": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_003991.3:c.1194+1569C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003982.1:n.1194+1569C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1694,
          "endIntronDirection": "-",
          "endIntronOffset": 9401,
          "referenceAllele": "G",
          "start": 1694,
          "startIntronDirection": "-",
          "startIntronOffset": 9402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049045",
      "geneNCBI_id": 100505518,
      "geneSymbol": "EDNRB-AS1",
      "hgvs": [
        "NR_103853.1:n.1695-9402G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "referenceAllele": "C",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "XM_005266275.2:c.*94C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266332.2:n.*94C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "XM_011534949.1:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533251.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.4:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825585000",
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001122659.3:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116131.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646607.2:c.1239C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001122659.3:c.1239C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493527.1:p.Ser413="
          },
          "RefSeq": {
            "hgvs": "NP_001116131.1:p.Ser413="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1471,
          "referenceAllele": "C",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.5:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Ser413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1452,
          "endIntronDirection": "+",
          "endIntronOffset": 1569,
          "referenceAllele": "C",
          "start": 1452,
          "startIntronDirection": "+",
          "startIntronOffset": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_003991.4:c.1194+1569C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003982.1:n.1194+1569C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696010"
    }
  ],
  "type": "nucleotide"
}