{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9757990",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.1967G>A (p.Arg656His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1450071[alleleid]",
        "alleleId": 1450071,
        "preferredName": "NM_017671.5(FERMT1):c.1967G>A (p.Arg656His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1371634",
        "RCV": [
          "RCV001899613"
        ],
        "variationId": 1371634
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-6057887-C-T",
        "id": "20-6057887-C-T",
        "variant": "20:6057887 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6057887C>T?assembly=hg19",
        "id": "chr20:g.6057887C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6077240C>T?assembly=hg38",
        "id": "chr20:g.6077240C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201899720",
        "rs": 201899720
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6057887-C-T?dataset=gnomad_r2_1",
        "id": "20-6057887-C-T",
        "variant": "20:6057887 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6077240-C-T?dataset=gnomad_r3",
        "id": "20-6077240-C-T",
        "variant": "20:6077240 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6077240-C-T?dataset=gnomad_r4",
        "id": "20-6077240-C-T",
        "variant": "20:6077240 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 6077240,
          "referenceAllele": "C",
          "start": 6077239
        }
      ],
      "hgvs": [
        "NC_000020.11:g.6077240C>T",
        "CM000682.2:g.6077240C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 6057887,
          "referenceAllele": "C",
          "start": 6057886
        }
      ],
      "hgvs": [
        "NC_000020.10:g.6057887C>T",
        "CM000682.1:g.6057887C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 6005887,
          "referenceAllele": "C",
          "start": 6005886
        }
      ],
      "hgvs": [
        "NC_000020.9:g.6005887C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51305,
          "referenceAllele": "G",
          "start": 51304
        }
      ],
      "hgvs": [
        "NG_016213.1:g.51305G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699095.1:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514127.1:p.Arg656His",
        "hgvsWellDefined": "ENSP00000514127.1:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.9:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Arg656His",
        "hgvsWellDefined": "ENSP00000217289.4:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Arg656His"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Arg656His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2756,
          "referenceAllele": "G",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.8:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Arg656His",
        "hgvsWellDefined": "ENSP00000217289.4:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000478194.1:n.927G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000536936.1:c.1196G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441063.1:p.Arg399His",
        "hgvsWellDefined": "ENSP00000441063.1:p.Arg399His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573268798",
      "coordinates": [
        {
          "allele": "A",
          "end": 2756,
          "referenceAllele": "G",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.4:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Arg656His",
        "hgvsWellDefined": "NP_060141.3:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "referenceAllele": "G",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "XM_024451935.1:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307703.1:p.Arg656His",
        "hgvsWellDefined": "XP_024307703.1:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573268798",
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.5:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Arg656His",
        "hgvsWellDefined": "NP_060141.3:p.Arg656His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Arg656His"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Arg656His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}