{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8644620",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=552469[alleleid]",
        "alleleId": 552469,
        "preferredName": "NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/561282",
        "RCV": [
          "RCV000680479",
          "RCV000959357"
        ],
        "variationId": 561282
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48266311-T-C",
        "id": "17-48266311-T-C",
        "variant": "17:48266311 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48266311T>C?assembly=hg19",
        "id": "chr17:g.48266311T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50188950T>C?assembly=hg38",
        "id": "chr17:g.50188950T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777265470",
        "rs": 777265470
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48266311-T-C?dataset=gnomad_r2_1",
        "id": "17-48266311-T-C",
        "variant": "17:48266311 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50188950-T-C?dataset=gnomad_r3",
        "id": "17-50188950-T-C",
        "variant": "17:50188950 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50188950-T-C?dataset=gnomad_r4",
        "id": "17-50188950-T-C",
        "variant": "17:50188950 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 50188950,
          "referenceAllele": "T",
          "start": 50188949
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50188950T>C",
        "CM000679.2:g.50188950T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 48266311,
          "referenceAllele": "T",
          "start": 48266310
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48266311T>C",
        "CM000679.1:g.48266311T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 45621310,
          "referenceAllele": "T",
          "start": 45621309
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45621310T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17690,
          "referenceAllele": "A",
          "start": 17689
        }
      ],
      "hgvs": [
        "NG_007400.1:g.17690A>G",
        "LRG_1:g.17690A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3116,
          "referenceAllele": "A",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.2998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Met1000Val",
        "hgvsWellDefined": "ENSP00000225964.6:p.Met1000Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Met1000Val"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Met1000Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3117,
          "referenceAllele": "A",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.2998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Met1000Val",
        "hgvsWellDefined": "ENSP00000225964.5:p.Met1000Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827349",
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "referenceAllele": "A",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.2998A>G",
        "LRG_1t1:c.2998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Met1000Val",
        "hgvsWellDefined": "NP_000079.2:p.Met1000Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2863,
          "referenceAllele": "A",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.2728A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Met910Val",
        "hgvsWellDefined": "XP_005257115.2:p.Met910Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "A",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.2080A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Met694Val",
        "hgvsWellDefined": "XP_005257116.2:p.Met694Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2935,
          "referenceAllele": "A",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.2800A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Met934Val",
        "hgvsWellDefined": "XP_011522643.1:p.Met934Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "referenceAllele": "A",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.2728A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Met910Val",
        "hgvsWellDefined": "XP_005257115.2:p.Met910Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2215,
          "referenceAllele": "A",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.2080A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Met694Val",
        "hgvsWellDefined": "XP_005257116.2:p.Met694Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827349",
      "coordinates": [
        {
          "allele": "G",
          "end": 3116,
          "referenceAllele": "A",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.2998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Met1000Val",
        "hgvsWellDefined": "NP_000079.2:p.Met1000Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Met1000Val"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Met1000Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}