{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10277926",
  "communityStandardTitle": [
    "NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM149307"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=352627[alleleid]",
        "alleleId": 352627,
        "preferredName": "NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341932",
        "RCV": [
          "RCV000825505",
          "RCV001539494",
          "RCV004555861"
        ],
        "variationId": 341932
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-44324727-C-G",
        "id": "22-44324727-C-G",
        "variant": "22:44324727 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.44324727C>G?assembly=hg19",
        "id": "chr22:g.44324727C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43928847C>G?assembly=hg38",
        "id": "chr22:g.43928847C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/738409",
        "rs": 738409
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-44324727-C-G?dataset=gnomad_r2_1",
        "id": "22-44324727-C-G",
        "variant": "22:44324727 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43928847-C-G?dataset=gnomad_r3",
        "id": "22-43928847-C-G",
        "variant": "22:43928847 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43928847-C-G?dataset=gnomad_r4",
        "id": "22-43928847-C-G",
        "variant": "22:43928847 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 43928847,
          "referenceAllele": "C",
          "start": 43928846
        }
      ],
      "hgvs": [
        "NC_000022.11:g.43928847C>G",
        "CM000684.2:g.43928847C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 44324727,
          "referenceAllele": "C",
          "start": 44324726
        }
      ],
      "hgvs": [
        "NC_000022.10:g.44324727C>G",
        "CM000684.1:g.44324727C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42656060,
          "referenceAllele": "C",
          "start": 42656059
        }
      ],
      "hgvs": [
        "NC_000022.9:g.42656060C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10109,
          "referenceAllele": "C",
          "start": 10108
        }
      ],
      "hgvs": [
        "NG_008631.1:g.10109C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001134"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "ENST00000216180.8:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216180.3:p.Ile148Met",
        "hgvsWellDefined": "ENSP00000216180.3:p.Ile148Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216180.8:c.444C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025225.3:c.444C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216180.3:p.Ile148Met"
          },
          "RefSeq": {
            "hgvs": "NP_079501.2:p.Ile148Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "ENST00000216180.7:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216180.3:p.Ile148Met",
        "hgvsWellDefined": "ENSP00000216180.3:p.Ile148Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "ENST00000406117.6:c.*76C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384668.2:n.*76C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "ENST00000423180.2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397987.2:p.Ile144Met",
        "hgvsWellDefined": "ENSP00000397987.2:p.Ile144Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "ENST00000478713.1:n.478C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425561",
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "NM_025225.2:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079501.2:p.Ile148Met",
        "hgvsWellDefined": "NP_079501.2:p.Ile148Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425561",
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "NM_025225.3:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079501.2:p.Ile148Met",
        "hgvsWellDefined": "NP_079501.2:p.Ile148Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216180.8:c.444C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025225.3:c.444C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216180.3:p.Ile148Met"
          },
          "RefSeq": {
            "hgvs": "NP_079501.2:p.Ile148Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}