{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320767",
  "communityStandardTitle": [
    "NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211538[alleleid]",
        "alleleId": 211538,
        "preferredName": "NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214802",
        "RCV": [
          "RCV000274500",
          "RCV000331648",
          "RCV000884571",
          "RCV004530169"
        ],
        "variationId": 214802
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47603733-G-C",
        "id": "11-47603733-G-C",
        "variant": "11:47603733 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47603733G>C?assembly=hg19",
        "id": "chr11:g.47603733G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47582181G>C?assembly=hg38",
        "id": "chr11:g.47582181G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148331180",
        "rs": 148331180
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47603733-G-C?dataset=gnomad_r2_1",
        "id": "11-47603733-G-C",
        "variant": "11:47603733 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47582181-G-C?dataset=gnomad_r3",
        "id": "11-47582181-G-C",
        "variant": "11:47582181 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47582181-G-C?dataset=gnomad_r4",
        "id": "11-47582181-G-C",
        "variant": "11:47582181 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47582181,
          "referenceAllele": "G",
          "start": 47582180
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47582181G>C",
        "CM000673.2:g.47582181G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47603733,
          "referenceAllele": "G",
          "start": 47603732
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47603733G>C",
        "CM000673.1:g.47603733G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47560309,
          "referenceAllele": "G",
          "start": 47560308
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47560309G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8172,
          "referenceAllele": "G",
          "start": 8171
        }
      ],
      "hgvs": [
        "NG_011946.1:g.8172G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8172,
          "referenceAllele": "G",
          "start": 8171
        }
      ],
      "hgvs": [
        "NG_011946.2:g.8172G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000263774.9:c.475G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263774.4:p.Val159Leu",
        "hgvsWellDefined": "ENSP00000263774.4:p.Val159Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263774.9:c.475G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004551.3:c.475G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263774.4:p.Val159Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004542.1:p.Val159Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000531351.2:n.1535G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2949,
          "referenceAllele": "G",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000677462.1:n.2949G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2732,
          "referenceAllele": "G",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000678975.1:n.2732G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000263774.8:c.475G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263774.4:p.Val159Leu",
        "hgvsWellDefined": "ENSP00000263774.4:p.Val159Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000524568.1:n.578G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000525212.1:n.130G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000525378.5:n.413G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000533507.5:n.1369G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320768",
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NM_004551.2:c.475G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004542.1:p.Val159Leu",
        "hgvsWellDefined": "NP_004542.1:p.Val159Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029708"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320768",
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NM_004551.3:c.475G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004542.1:p.Val159Leu",
        "hgvsWellDefined": "NP_004542.1:p.Val159Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666538",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263774.9:c.475G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004551.3:c.475G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263774.4:p.Val159Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004542.1:p.Val159Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}