{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5839740",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.274C>T (p.Leu92=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=432683[alleleid]",
        "alleleId": 432683,
        "preferredName": "NM_000518.5(HBB):c.274C>T (p.Leu92=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439144",
        "RCV": [
          "RCV000507587",
          "RCV000756242",
          "RCV001104256",
          "RCV001104255",
          "RCV001104257",
          "RCV001104258"
        ],
        "variationId": 439144
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-5247848-G-A",
        "id": "11-5247848-G-A",
        "variant": "11:5247848 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5247848G>A?assembly=hg19",
        "id": "chr11:g.5247848G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5226618G>A?assembly=hg38",
        "id": "chr11:g.5226618G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769583496",
        "rs": 769583496
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5247848-G-A?dataset=gnomad_r2_1",
        "id": "11-5247848-G-A",
        "variant": "11:5247848 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226618-G-A?dataset=gnomad_r3",
        "id": "11-5226618-G-A",
        "variant": "11:5226618 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226618-G-A?dataset=gnomad_r4",
        "id": "11-5226618-G-A",
        "variant": "11:5226618 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5226618,
          "referenceAllele": "G",
          "start": 5226617
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5226618G>A",
        "CM000673.2:g.5226618G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5247848,
          "referenceAllele": "G",
          "start": 5247847
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5247848G>A",
        "CM000673.1:g.5247848G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5204424,
          "referenceAllele": "G",
          "start": 5204423
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204424G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70998,
          "referenceAllele": "C",
          "start": 70997
        }
      ],
      "hgvs": [
        "NG_000007.3:g.70998C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5454,
          "referenceAllele": "C",
          "start": 5453
        }
      ],
      "hgvs": [
        "NG_059281.1:g.5454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Leu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Leu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.274C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.274C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu92="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu92="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "C",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.206C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000485743.1:n.325C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*90C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*90C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825205978",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825205978",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.274C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.274C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu92="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu92="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}