{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA969866",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.16A>G (p.Met6Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1882330[alleleid]",
        "alleleId": 1882330,
        "preferredName": "NM_001918.5(DBT):c.16A>G (p.Met6Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2153468",
        "RCV": [
          "RCV003077628"
        ],
        "variationId": 2153468
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100715361-T-C",
        "id": "1-100715361-T-C",
        "variant": "1:100715361 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100715361T>C?assembly=hg19",
        "id": "chr1:g.100715361T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100249805T>C?assembly=hg38",
        "id": "chr1:g.100249805T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749693779",
        "rs": 749693779
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100715361-T-C?dataset=gnomad_r2_1",
        "id": "1-100715361-T-C",
        "variant": "1:100715361 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100249805-T-C?dataset=gnomad_r3",
        "id": "1-100249805-T-C",
        "variant": "1:100249805 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100249805-T-C?dataset=gnomad_r4",
        "id": "1-100249805-T-C",
        "variant": "1:100249805 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100249805,
          "referenceAllele": "T",
          "start": 100249804
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100249805T>C",
        "CM000663.2:g.100249805T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100715361,
          "referenceAllele": "T",
          "start": 100715360
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100715361T>C",
        "CM000663.1:g.100715361T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100487949,
          "referenceAllele": "T",
          "start": 100487948
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100487949T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5049,
          "referenceAllele": "A",
          "start": 5048
        }
      ],
      "hgvs": [
        "NG_011852.2:g.5049A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19,
          "referenceAllele": "A",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Met6Val",
        "hgvsWellDefined": "ENSP00000505544.1:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "referenceAllele": "A",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.-715A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:n.-715A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16,
          "referenceAllele": "A",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370131.3:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359150.3:p.Met6Val",
        "hgvsWellDefined": "ENSP00000359150.3:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Met6Val",
        "hgvsWellDefined": "ENSP00000359151.3:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.16A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.16A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Met6Val"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Met6Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "referenceAllele": "A",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Met6Val",
        "hgvsWellDefined": "NP_001909.3:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "referenceAllele": "A",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.-715A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:n.-715A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "A",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.1:n.36A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60,
          "referenceAllele": "A",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.-715A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:n.-715A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "referenceAllele": "A",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.-775A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:n.-775A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "A",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.33A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Met6Val",
        "hgvsWellDefined": "NP_001909.3:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580261042",
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.16A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Met6Val",
        "hgvsWellDefined": "NP_001909.4:p.Met6Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.16A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.16A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Met6Val"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Met6Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.-715A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:n.-715A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.-588A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:n.-588A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.30A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.30A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.30A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.30A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}