{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388781315",
  "communityStandardTitle": [
    "NM_019616.4(F7):c.220A>G (p.Arg74Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1087220[alleleid]",
        "alleleId": 1087220,
        "preferredName": "NM_019616.4(F7):c.220A>G (p.Arg74Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098443",
        "RCV": [
          "RCV001420375"
        ],
        "variationId": 1098443
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113765159A>G?assembly=hg19",
        "id": "chr13:g.113765159A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113110845A>G?assembly=hg38",
        "id": "chr13:g.113110845A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2142212748",
        "rs": 2142212748
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113110845-A-G?dataset=gnomad_r4",
        "id": "13-113110845-A-G",
        "variant": "13:113110845 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 113110845,
          "referenceAllele": "A",
          "start": 113110844
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113110845A>G",
        "CM000675.2:g.113110845A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 113765159,
          "referenceAllele": "A",
          "start": 113765158
        }
      ],
      "hgvs": [
        "NC_000013.10:g.113765159A>G",
        "CM000675.1:g.113765159A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 112813160,
          "referenceAllele": "A",
          "start": 112813159
        }
      ],
      "hgvs": [
        "NC_000013.9:g.112813160A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10055,
          "referenceAllele": "A",
          "start": 10054
        }
      ],
      "hgvs": [
        "NG_009262.1:g.10055A>G",
        "LRG_554:g.10055A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001527"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.8:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.4:p.Arg74Gly",
        "hgvsWellDefined": "ENSP00000329546.4:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748316",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.220A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.220A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Arg74Gly"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Arg74Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.7:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.3:p.Arg74Gly",
        "hgvsWellDefined": "ENSP00000329546.3:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000375581.3:c.286A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364731.3:p.Arg96Gly",
        "hgvsWellDefined": "ENSP00000364731.3:p.Arg96Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "A",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000444337.1:c.206A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387669.1:p.Glu69Gly",
        "hgvsWellDefined": "ENSP00000387669.1:p.Glu69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "referenceAllele": "A",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000473085.1:n.167A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000479674.1:n.506A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 3001,
          "referenceAllele": "A",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000541084.5:c.65-3002A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442051.2:n.65-3002A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228694",
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_000131.4:c.286A>G",
        "LRG_554t1:c.286A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000122.1:p.Arg96Gly",
        "hgvsWellDefined": "NP_000122.1:p.Arg96Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 3001,
          "referenceAllele": "A",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.1:c.65-3002A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:n.65-3002A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904307",
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.3:c.220A>G",
        "LRG_554t2:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Arg74Gly",
        "hgvsWellDefined": "NP_062562.1:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "A",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.1:n.260A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.2:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.1:p.Arg74Gly",
        "hgvsWellDefined": "XP_006720026.1:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.1:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.1:p.Arg74Gly",
        "hgvsWellDefined": "XP_011535776.1:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 3001,
          "referenceAllele": "A",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.1:c.65-3002A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.1:n.65-3002A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243,
          "referenceAllele": "A",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537477.1:c.206A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535779.1:p.Glu69Gly",
        "hgvsWellDefined": "XP_011535779.1:p.Glu69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.3:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.2:p.Arg89Gly",
        "hgvsWellDefined": "XP_006720026.2:p.Arg89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.2:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.2:p.Arg89Gly",
        "hgvsWellDefined": "XP_011535776.2:p.Arg89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 3001,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.2:c.110-3002A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.2:n.110-3002A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904307",
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.4:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Arg74Gly",
        "hgvsWellDefined": "NP_062562.1:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.220A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.220A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Arg74Gly"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Arg74Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.2:n.257A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 3001,
          "referenceAllele": "A",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.2:c.65-3002A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:n.65-3002A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715076"
    }
  ],
  "type": "nucleotide"
}