{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414702488",
  "communityStandardTitle": [
    "NM_004484.4(GPC3):c.1702A>G (p.Met568Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849621[alleleid]",
        "alleleId": 849621,
        "preferredName": "NM_004484.4(GPC3):c.1702A>G (p.Met568Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/843009",
        "RCV": [
          "RCV001045535"
        ],
        "variationId": 843009
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132670193T>C?assembly=hg19",
        "id": "chrX:g.132670193T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.133536165T>C?assembly=hg38",
        "id": "chrX:g.133536165T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1277140205",
        "rs": 1277140205
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-132670193-T-C?dataset=gnomad_r2_1",
        "id": "X-132670193-T-C",
        "variant": "X:132670193 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-133536165-T-C?dataset=gnomad_r4",
        "id": "X-133536165-T-C",
        "variant": "X:133536165 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 133536165,
          "referenceAllele": "T",
          "start": 133536164
        }
      ],
      "hgvs": [
        "NC_000023.11:g.133536165T>C",
        "CM000685.2:g.133536165T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 132670193,
          "referenceAllele": "T",
          "start": 132670192
        }
      ],
      "hgvs": [
        "NC_000023.10:g.132670193T>C",
        "CM000685.1:g.132670193T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 132497859,
          "referenceAllele": "T",
          "start": 132497858
        }
      ],
      "hgvs": [
        "NC_000023.9:g.132497859T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454474,
          "referenceAllele": "A",
          "start": 454473
        }
      ],
      "hgvs": [
        "NG_009286.1:g.454474A>G",
        "LRG_505:g.454474A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.3:c.891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "A",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.2:n.733A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "A",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000689310.1:c.1654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510438.1:p.Met552Val",
        "hgvsWellDefined": "ENSP00000510438.1:p.Met552Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692074.1:n.646A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "A",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692084.1:c.989A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.8:c.1702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Met568Val",
        "hgvsWellDefined": "ENSP00000359854.3:p.Met568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1702A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1702A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Met568Val"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Met568Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.7:c.1771A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Met591Val",
        "hgvsWellDefined": "ENSP00000377836.2:p.Met591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666017.1:n.580A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "A",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.1:n.989A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000667662.1:n.769A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "A",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000669691.1:n.768A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2148,
          "referenceAllele": "A",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.7:c.1702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Met568Val",
        "hgvsWellDefined": "ENSP00000359854.3:p.Met568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "A",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.6:c.1771A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Met591Val",
        "hgvsWellDefined": "ENSP00000377836.2:p.Met591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "A",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000631057.2:c.1540A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486325.1:p.Met514Val",
        "hgvsWellDefined": "ENSP00000486325.1:p.Met514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691489",
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "A",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.1:c.1771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Met591Val",
        "hgvsWellDefined": "NP_001158089.1:p.Met591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996921",
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.1:c.1654A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Met552Val",
        "hgvsWellDefined": "NP_001158090.1:p.Met552Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997536",
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "A",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.1540A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Met514Val",
        "hgvsWellDefined": "NP_001158091.1:p.Met514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524520",
      "coordinates": [
        {
          "allele": "G",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.1702A>G",
        "LRG_505t1:c.1702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Met568Val",
        "hgvsWellDefined": "NP_004475.1:p.Met568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691489",
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.1771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Met591Val",
        "hgvsWellDefined": "NP_001158089.1:p.Met591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996921",
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "A",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.1654A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Met552Val",
        "hgvsWellDefined": "NP_001158090.1:p.Met552Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997536",
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.1540A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Met514Val",
        "hgvsWellDefined": "NP_001158091.1:p.Met514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524520",
      "coordinates": [
        {
          "allele": "G",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.1702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Met568Val",
        "hgvsWellDefined": "NP_004475.1:p.Met568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1702A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1702A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Met568Val"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Met568Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}