{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA634253328",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.1139+740G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6074846C>G?assembly=hg19",
        "id": "chr20:g.6074846C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6094199C>G?assembly=hg38",
        "id": "chr20:g.6094199C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312728",
        "rs": 869312728
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6074846-C-G?dataset=gnomad_r2_1",
        "id": "20-6074846-C-G",
        "variant": "20:6074846 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6094199-C-G?dataset=gnomad_r3",
        "id": "20-6094199-C-G",
        "variant": "20:6094199 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6094199-C-G?dataset=gnomad_r4",
        "id": "20-6094199-C-G",
        "variant": "20:6094199 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 6094199,
          "referenceAllele": "C",
          "start": 6094198
        }
      ],
      "hgvs": [
        "NC_000020.11:g.6094199C>G",
        "CM000682.2:g.6094199C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 6074846,
          "referenceAllele": "C",
          "start": 6074845
        }
      ],
      "hgvs": [
        "NC_000020.10:g.6074846C>G",
        "CM000682.1:g.6074846C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 6022846,
          "referenceAllele": "C",
          "start": 6022845
        }
      ],
      "hgvs": [
        "NC_000020.9:g.6022846C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34346,
          "referenceAllele": "G",
          "start": 34345
        }
      ],
      "hgvs": [
        "NG_016213.1:g.34346G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4658,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 4658,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699095.1:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514127.1:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1601,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699096.1:n.1601+740G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1414,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1414,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.9:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1139+740G>C"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1139+740G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:n.1139+740G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:n.1139+740G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1928,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.8:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000536936.1:c.368+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441063.1:n.368+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1928,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.4:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1996,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1996,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "XM_024451935.1:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307703.1:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1414,
          "endIntronDirection": "+",
          "endIntronOffset": 740,
          "referenceAllele": "G",
          "start": 1414,
          "startIntronDirection": "+",
          "startIntronOffset": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.5:c.1139+740G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:n.1139+740G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1139+740G>C"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1139+740G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:n.1139+740G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:n.1139+740G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}