{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3115721",
  "communityStandardTitle": [
    "NM_021870.3(FGG):c.124G>A (p.Gly42Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1739042",
        "active": true,
        "id": "COSM1739042"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=890277[alleleid]",
        "alleleId": 890277,
        "preferredName": "NM_021870.3(FGG):c.124G>A (p.Gly42Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/900593",
        "RCV": [
          "RCV001145946",
          "RCV001171744",
          "RCV002249738"
        ],
        "variationId": 900593
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-155533353-C-T",
        "id": "4-155533353-C-T",
        "variant": "4:155533353 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.155533353C>T?assembly=hg19",
        "id": "chr4:g.155533353C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154612201C>T?assembly=hg38",
        "id": "chr4:g.154612201C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202132393",
        "rs": 202132393
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-155533353-C-T?dataset=gnomad_r2_1",
        "id": "4-155533353-C-T",
        "variant": "4:155533353 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154612201-C-T?dataset=gnomad_r3",
        "id": "4-154612201-C-T",
        "variant": "4:154612201 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154612201-C-T?dataset=gnomad_r4",
        "id": "4-154612201-C-T",
        "variant": "4:154612201 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 154612201,
          "referenceAllele": "C",
          "start": 154612200
        }
      ],
      "hgvs": [
        "NC_000004.12:g.154612201C>T",
        "CM000666.2:g.154612201C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 155533353,
          "referenceAllele": "C",
          "start": 155533352
        }
      ],
      "hgvs": [
        "NC_000004.11:g.155533353C>T",
        "CM000666.1:g.155533353C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 155752803,
          "referenceAllele": "C",
          "start": 155752802
        }
      ],
      "hgvs": [
        "NC_000004.10:g.155752803C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "hgvs": [
        "NG_008834.1:g.5550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001229"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000336098.8:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336829.3:p.Gly42Ser",
        "hgvsWellDefined": "ENSP00000336829.3:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747549",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336098.8:c.124G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021870.3:c.124G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336829.3:p.Gly42Ser"
          },
          "RefSeq": {
            "hgvs": "NP_068656.2:p.Gly42Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000336098.7:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336829.3:p.Gly42Ser",
        "hgvsWellDefined": "ENSP00000336829.3:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "referenceAllele": "G",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000393846.6:c.-186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377429.2:n.-186G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000404648.7:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384860.3:p.Gly42Ser",
        "hgvsWellDefined": "ENSP00000384860.3:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000405164.5:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384101.1:p.Gly42Ser",
        "hgvsWellDefined": "ENSP00000384101.1:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000407946.5:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384552.1:p.Gly42Ser",
        "hgvsWellDefined": "ENSP00000384552.1:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "G",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000443553.5:c.-152-34G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407562.1:n.-152-34G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000464532.5:n.171G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000465336.1:n.360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000473393.5:n.150G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000484695.1:n.126G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000492082.5:n.363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204019",
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.4:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Gly42Ser",
        "hgvsWellDefined": "NP_000500.2:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204019",
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.5:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Gly42Ser",
        "hgvsWellDefined": "NP_000500.2:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139740076",
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_021870.2:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068656.2:p.Gly42Ser",
        "hgvsWellDefined": "NP_068656.2:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139740076",
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_021870.3:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068656.2:p.Gly42Ser",
        "hgvsWellDefined": "NP_068656.2:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336098.8:c.124G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021870.3:c.124G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336829.3:p.Gly42Ser"
          },
          "RefSeq": {
            "hgvs": "NP_068656.2:p.Gly42Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204019",
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.6:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Gly42Ser",
        "hgvsWellDefined": "NP_000500.2:p.Gly42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710840"
    }
  ],
  "type": "nucleotide"
}