{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3115027",
  "communityStandardTitle": [
    "NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=297349[alleleid]",
        "alleleId": 297349,
        "preferredName": "NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/347808",
        "RCV": [
          "RCV000270905",
          "RCV000328375",
          "RCV002520211"
        ],
        "variationId": 347808
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-155506758-C-G",
        "id": "4-155506758-C-G",
        "variant": "4:155506758 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.155506758C>G?assembly=hg19",
        "id": "chr4:g.155506758C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154585606C>G?assembly=hg38",
        "id": "chr4:g.154585606C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370873387",
        "rs": 370873387
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-155506758-C-G?dataset=gnomad_r2_1",
        "id": "4-155506758-C-G",
        "variant": "4:155506758 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154585606-C-G?dataset=gnomad_r3",
        "id": "4-154585606-C-G",
        "variant": "4:154585606 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154585606-C-G?dataset=gnomad_r4",
        "id": "4-154585606-C-G",
        "variant": "4:154585606 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 154585606,
          "referenceAllele": "C",
          "start": 154585605
        }
      ],
      "hgvs": [
        "NC_000004.12:g.154585606C>G",
        "CM000666.2:g.154585606C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 155506758,
          "referenceAllele": "C",
          "start": 155506757
        }
      ],
      "hgvs": [
        "NC_000004.11:g.155506758C>G",
        "CM000666.1:g.155506758C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 155726208,
          "referenceAllele": "C",
          "start": 155726207
        }
      ],
      "hgvs": [
        "NC_000004.10:g.155726208C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10140,
          "referenceAllele": "G",
          "start": 10139
        }
      ],
      "hgvs": [
        "NG_008832.1:g.10140G>C",
        "LRG_557:g.10140G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001227"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000651975.2:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498441.1:p.Gly608Ala",
        "hgvsWellDefined": "ENSP00000498441.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000403106.8:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385981.3:p.Gly608Ala",
        "hgvsWellDefined": "ENSP00000385981.3:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403106.8:c.1823G>C"
          },
          "RefSeq": {
            "hgvs": "NM_021871.4:c.1823G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385981.3:p.Gly608Ala"
          },
          "RefSeq": {
            "hgvs": "NP_068657.1:p.Gly608Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000651975.1:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498441.1:p.Gly608Ala",
        "hgvsWellDefined": "ENSP00000498441.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000302053.7:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306361.3:p.Gly608Ala",
        "hgvsWellDefined": "ENSP00000306361.3:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000403106.7:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385981.3:p.Gly608Ala",
        "hgvsWellDefined": "ENSP00000385981.3:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000622532.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478487.1:p.Glu250Gln",
        "hgvsWellDefined": "ENSP00000478487.1:p.Glu250Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825203989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.3:c.1823G>C",
        "LRG_557t1:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_000499.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466215",
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.2:c.1823G>C",
        "LRG_557t2:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_068657.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825203989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.4:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_000499.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466215",
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.3:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_068657.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466215",
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.4:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_068657.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403106.8:c.1823G>C"
          },
          "RefSeq": {
            "hgvs": "NM_021871.4:c.1823G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385981.3:p.Gly608Ala"
          },
          "RefSeq": {
            "hgvs": "NP_068657.1:p.Gly608Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825203989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.5:c.1823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly608Ala",
        "hgvsWellDefined": "NP_000499.1:p.Gly608Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674873"
    }
  ],
  "type": "nucleotide"
}