{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408405484",
  "communityStandardTitle": [
    "NM_000361.3(THBD):c.1456G>C (p.Asp486His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.23028686C>G?assembly=hg19",
        "id": "chr20:g.23028686C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.23048049C>G?assembly=hg38",
        "id": "chr20:g.23048049C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41348347",
        "rs": 41348347
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 23048049,
          "referenceAllele": "C",
          "start": 23048048
        }
      ],
      "hgvs": [
        "NC_000020.11:g.23048049C>G",
        "CM000682.2:g.23048049C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 23028686,
          "referenceAllele": "C",
          "start": 23028685
        }
      ],
      "hgvs": [
        "NC_000020.10:g.23028686C>G",
        "CM000682.1:g.23028686C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 22976686,
          "referenceAllele": "C",
          "start": 22976685
        }
      ],
      "hgvs": [
        "NC_000020.9:g.22976686C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6616,
          "referenceAllele": "G",
          "start": 6615
        }
      ],
      "hgvs": [
        "NG_012027.1:g.6616G>C",
        "LRG_168:g.6616G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "ENST00000377103.3:c.1456G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366307.2:p.Asp486His",
        "hgvsWellDefined": "ENSP00000366307.2:p.Asp486His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377103.3:c.1456G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000361.3:c.1456G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366307.2:p.Asp486His"
          },
          "RefSeq": {
            "hgvs": "NP_000352.1:p.Asp486His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "ENST00000377103.2:c.1456G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366307.2:p.Asp486His",
        "hgvsWellDefined": "ENSP00000366307.2:p.Asp486His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087696350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "NM_000361.2:c.1456G>C",
        "LRG_168t1:c.1456G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000352.1:p.Asp486His",
        "hgvsWellDefined": "NP_000352.1:p.Asp486His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087696350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "NM_000361.3:c.1456G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000352.1:p.Asp486His",
        "hgvsWellDefined": "NP_000352.1:p.Asp486His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377103.3:c.1456G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000361.3:c.1456G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366307.2:p.Asp486His"
          },
          "RefSeq": {
            "hgvs": "NP_000352.1:p.Asp486His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}