{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6143111",
  "communityStandardTitle": [
    "NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328866[alleleid]",
        "alleleId": 328866,
        "preferredName": "NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305740",
        "RCV": [
          "RCV000284822",
          "RCV000393780",
          "RCV000424374",
          "RCV000939143"
        ],
        "variationId": 305740
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-67376072-C-T",
        "id": "11-67376072-C-T",
        "variant": "11:67376072 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67376072C>T?assembly=hg19",
        "id": "chr11:g.67376072C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67608601C>T?assembly=hg38",
        "id": "chr11:g.67608601C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199543483",
        "rs": 199543483
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67376072-C-T?dataset=gnomad_r2_1",
        "id": "11-67376072-C-T",
        "variant": "11:67376072 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67608601-C-T?dataset=gnomad_r3",
        "id": "11-67608601-C-T",
        "variant": "11:67608601 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67608601-C-T?dataset=gnomad_r4",
        "id": "11-67608601-C-T",
        "variant": "11:67608601 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67608601,
          "referenceAllele": "C",
          "start": 67608600
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67608601C>T",
        "CM000673.2:g.67608601C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67376072,
          "referenceAllele": "C",
          "start": 67376071
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67376072C>T",
        "CM000673.1:g.67376072C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67132648,
          "referenceAllele": "C",
          "start": 67132647
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67132648C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6750,
          "referenceAllele": "C",
          "start": 6749
        }
      ],
      "hgvs": [
        "NG_013353.1:g.6750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002805"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000322776.11:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322450.6:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746519",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322776.11:c.205C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007103.4:c.205C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322450.6:p.Leu69="
          },
          "RefSeq": {
            "hgvs": "NP_009034.2:p.Leu69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000647561.1:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497587.1:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000322776.10:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322450.6:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000415352.6:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395368.2:p.Leu62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000524838.5:n.262C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000524876.5:n.517C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000525086.5:n.252C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000526770.5:n.64C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000528314.1:c.-99C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434581.1:n.-99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000528328.1:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436906.1:p.Leu52="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000528377.1:n.376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000528548.5:n.574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000529867.5:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434438.1:p.Leu57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000529927.5:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436766.1:p.Leu60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000530014.5:n.500C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000530103.5:c.*99C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434575.1:n.*99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000530638.1:c.88C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436936.1:p.Leu30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000532244.5:c.-99C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435202.1:n.-99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "C",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000532303.5:c.-99C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432015.1:n.-99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "C",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000532343.5:c.-99C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431751.1:n.-99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "C",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000533075.5:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437267.1:p.Leu62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "ENST00000534139.5:n.321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826017822",
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NM_001166102.1:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159574.1:p.Leu60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829686050",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NM_007103.3:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009034.2:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826017822",
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NM_001166102.2:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159574.1:p.Leu60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829686050",
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NM_007103.4:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009034.2:p.Leu69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696909",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322776.11:c.205C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007103.4:c.205C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322450.6:p.Leu69="
          },
          "RefSeq": {
            "hgvs": "NP_009034.2:p.Leu69="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}