{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1233268",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.6309G>A (p.Leu2103=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=277454[alleleid]",
        "alleleId": 277454,
        "preferredName": "NM_000130.5(F5):c.6309G>A (p.Leu2103=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/293575",
        "RCV": [
          "RCV000282703",
          "RCV000330654",
          "RCV000374331",
          "RCV000387460",
          "RCV000961008",
          "RCV002365337",
          "RCV003761889"
        ],
        "variationId": 293575
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-169487686-C-T",
        "id": "1-169487686-C-T",
        "variant": "1:169487686 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169487686C>T?assembly=hg19",
        "id": "chr1:g.169487686C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169518448C>T?assembly=hg38",
        "id": "chr1:g.169518448C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35369423",
        "rs": 35369423
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169487686-C-T?dataset=gnomad_r2_1",
        "id": "1-169487686-C-T",
        "variant": "1:169487686 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169518448-C-T?dataset=gnomad_r3",
        "id": "1-169518448-C-T",
        "variant": "1:169518448 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169518448-C-T?dataset=gnomad_r4",
        "id": "1-169518448-C-T",
        "variant": "1:169518448 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169518448,
          "referenceAllele": "C",
          "start": 169518447
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169518448C>T",
        "CM000663.2:g.169518448C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169487686,
          "referenceAllele": "C",
          "start": 169487685
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169487686C>T",
        "CM000663.1:g.169487686C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 167754310,
          "referenceAllele": "C",
          "start": 167754309
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167754310C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73084,
          "referenceAllele": "G",
          "start": 73083
        }
      ],
      "hgvs": [
        "NG_011806.1:g.73084G>A",
        "LRG_553:g.73084G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6404,
          "referenceAllele": "G",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.6309G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Leu2103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.6309G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.6309G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Leu2103="
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Leu2103="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6526,
          "referenceAllele": "G",
          "start": 6525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.6324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:p.Leu2108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6511,
          "referenceAllele": "G",
          "start": 6510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.6309G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Leu2103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050445",
      "coordinates": [
        {
          "allele": "A",
          "end": 6454,
          "referenceAllele": "G",
          "start": 6453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.6309G>A",
        "LRG_553t1:c.6309G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Leu2103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6461,
          "referenceAllele": "G",
          "start": 6460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.5898G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:p.Leu1966="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825050445",
      "coordinates": [
        {
          "allele": "A",
          "end": 6404,
          "referenceAllele": "G",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.6309G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Leu2103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.6309G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.6309G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Leu2103="
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Leu2103="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}