{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388784983",
  "communityStandardTitle": [
    "NM_019616.4(F7):c.581G>A (p.Gly194Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3392931[alleleid]",
        "alleleId": 3392931,
        "preferredName": "NM_019616.4(F7):c.581G>A (p.Gly194Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233808",
        "RCV": [
          "RCV004527088"
        ],
        "variationId": 3233808
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113771155G>A?assembly=hg19",
        "id": "chr13:g.113771155G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113116841G>A?assembly=hg38",
        "id": "chr13:g.113116841G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1438503836",
        "rs": 1438503836
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 113116841,
          "referenceAllele": "G",
          "start": 113116840
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113116841G>A",
        "CM000675.2:g.113116841G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 113771155,
          "referenceAllele": "G",
          "start": 113771154
        }
      ],
      "hgvs": [
        "NC_000013.10:g.113771155G>A",
        "CM000675.1:g.113771155G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 112819156,
          "referenceAllele": "G",
          "start": 112819155
        }
      ],
      "hgvs": [
        "NC_000013.9:g.112819156G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16051,
          "referenceAllele": "G",
          "start": 16050
        }
      ],
      "hgvs": [
        "NG_009262.1:g.16051G>A",
        "LRG_554:g.16051G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001527"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.8:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.4:p.Gly194Asp",
        "hgvsWellDefined": "ENSP00000329546.4:p.Gly194Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748316",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.581G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.581G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Gly194Asp"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Gly194Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.7:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.3:p.Gly194Asp",
        "hgvsWellDefined": "ENSP00000329546.3:p.Gly194Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "G",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000375581.3:c.647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364731.3:p.Gly216Asp",
        "hgvsWellDefined": "ENSP00000364731.3:p.Gly216Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000541084.5:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442051.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000442051.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103931",
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_000131.4:c.647G>A",
        "LRG_554t1:c.647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000122.1:p.Gly216Asp",
        "hgvsWellDefined": "NP_000122.1:p.Gly216Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500668",
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_001254483.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904337",
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.3:c.581G>A",
        "LRG_554t2:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Gly194Asp",
        "hgvsWellDefined": "NP_062562.1:p.Gly194Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.1:n.668G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.2:c.440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.1:p.Gly147Asp",
        "hgvsWellDefined": "XP_006720026.1:p.Gly147Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.1:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.1:p.Gly230Asp",
        "hgvsWellDefined": "XP_011535776.1:p.Gly230Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.1:c.503G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.1:p.Gly168Asp",
        "hgvsWellDefined": "XP_011535777.1:p.Gly168Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Gly114Asp",
        "hgvsWellDefined": "XP_011535778.1:p.Gly114Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537477.1:c.650G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535779.1:p.Gly217Asp",
        "hgvsWellDefined": "XP_011535779.1:p.Gly217Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.3:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.2:p.Gly162Asp",
        "hgvsWellDefined": "XP_006720026.2:p.Gly162Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.2:c.734G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.2:p.Gly245Asp",
        "hgvsWellDefined": "XP_011535776.2:p.Gly245Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.2:p.Gly183Asp",
        "hgvsWellDefined": "XP_011535777.2:p.Gly183Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.2:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Gly114Asp",
        "hgvsWellDefined": "XP_011535778.1:p.Gly114Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904337",
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.4:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Gly194Asp",
        "hgvsWellDefined": "NP_062562.1:p.Gly194Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.581G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.581G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Gly194Asp"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Gly194Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.2:n.665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500668",
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_001254483.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715076"
    }
  ],
  "type": "nucleotide"
}