{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212805",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.7522+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17855[alleleid]",
        "alleleId": 17855,
        "preferredName": "NM_025074.7(FRAS1):c.7522+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2816",
        "RCV": [
          "RCV000002950",
          "RCV003555904"
        ],
        "variationId": 2816
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79393485G>T?assembly=hg19",
        "id": "chr4:g.79393485G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78472331G>T?assembly=hg38",
        "id": "chr4:g.78472331G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730882180",
        "rs": 730882180
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-79393485-G-T?dataset=gnomad_r2_1",
        "id": "4-79393485-G-T",
        "variant": "4:79393485 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78472331-G-T?dataset=gnomad_r4",
        "id": "4-78472331-G-T",
        "variant": "4:78472331 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 78472331,
          "referenceAllele": "G",
          "start": 78472330
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78472331G>T",
        "CM000666.2:g.78472331G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79393485,
          "referenceAllele": "G",
          "start": 79393484
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79393485G>T",
        "CM000666.1:g.79393485G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79612509,
          "referenceAllele": "G",
          "start": 79612508
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79612509G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419762,
          "referenceAllele": "G",
          "start": 419761
        }
      ],
      "hgvs": [
        "NG_015812.1:g.419762G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419762,
          "referenceAllele": "G",
          "start": 419761
        }
      ],
      "hgvs": [
        "NG_015812.2:g.419762G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000682513.1:c.7522+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508201.1:n.7522+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.7522+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:n.7522+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.7522+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.7522+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:n.7522+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:n.7522+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7962,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7962,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.7522+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:n.7522+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7962,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7962,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.7522+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:n.7522+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8558,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8558,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.7516+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:n.7516+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8336,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8336,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.7294+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:n.7294+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5248,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5248,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532270.1:c.5221+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530572.1:n.5221+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2529,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532271.1:c.2410+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530573.1:n.2410+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8336,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8336,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.7294+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:n.7294+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.7522+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:n.7522+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.7522+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.7522+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:n.7522+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:n.7522+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}