{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA63645927",
  "communityStandardTitle": [
    "NM_005006.7(NDUFS1):c.*426T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=883452[alleleid]",
        "alleleId": 883452,
        "preferredName": "NM_005006.7(NDUFS1):c.*426T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/896190",
        "RCV": [
          "RCV001138693",
          "RCV001138694",
          "RCV001856776"
        ],
        "variationId": 896190
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.206988483A>C?assembly=hg19",
        "id": "chr2:g.206988483A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.206123759A>C?assembly=hg38",
        "id": "chr2:g.206123759A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114402169",
        "rs": 114402169
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-206988483-A-C?dataset=gnomad_r2_1",
        "id": "2-206988483-A-C",
        "variant": "2:206988483 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-206123759-A-C?dataset=gnomad_r3",
        "id": "2-206123759-A-C",
        "variant": "2:206123759 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-206123759-A-C?dataset=gnomad_r4",
        "id": "2-206123759-A-C",
        "variant": "2:206123759 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 206123759,
          "referenceAllele": "A",
          "start": 206123758
        }
      ],
      "hgvs": [
        "NC_000002.12:g.206123759A>C",
        "CM000664.2:g.206123759A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 206988483,
          "referenceAllele": "A",
          "start": 206988482
        }
      ],
      "hgvs": [
        "NC_000002.11:g.206988483A>C",
        "CM000664.1:g.206988483A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 206696728,
          "referenceAllele": "A",
          "start": 206696727
        }
      ],
      "hgvs": [
        "NC_000002.10:g.206696728A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40705,
          "referenceAllele": "T",
          "start": 40704
        }
      ],
      "hgvs": [
        "NG_009248.1:g.40705T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001518"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "T",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "ENST00000233190.11:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233190.5:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740910",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233190.11:c.*426T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005006.7:c.*426T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233190.5:n.*426T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004997.4:n.*426T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2877,
          "referenceAllele": "T",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "ENST00000233190.10:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233190.5:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2713,
          "referenceAllele": "T",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "ENST00000455934.6:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392709.2:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "referenceAllele": "T",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199981.1:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186910.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2516,
          "referenceAllele": "T",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199982.1:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186911.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2701,
          "referenceAllele": "T",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199983.1:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186912.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2713,
          "referenceAllele": "T",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199984.1:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186913.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2793,
          "referenceAllele": "T",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_005006.6:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004997.4:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2610,
          "referenceAllele": "T",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199981.2:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186910.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "T",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199982.2:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186911.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2626,
          "referenceAllele": "T",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199983.2:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186912.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "T",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_005006.7:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004997.4:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696298",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233190.11:c.*426T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005006.7:c.*426T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233190.5:n.*426T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004997.4:n.*426T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2728,
          "referenceAllele": "T",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NM_001199984.2:c.*426T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186913.1:n.*426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714048"
    }
  ],
  "type": "nucleotide"
}