{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366383630",
  "communityStandardTitle": [
    "NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4987087",
        "active": true,
        "id": "COSM4987087"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4987088",
        "active": true,
        "id": "COSM4987088"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443919[alleleid]",
        "alleleId": 443919,
        "preferredName": "NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452366",
        "RCV": [
          "RCV000522517",
          "RCV000765880",
          "RCV002316478",
          "RCV004537880"
        ],
        "variationId": 452366
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157100043G>C?assembly=hg19",
        "id": "chr6:g.157100043G>C"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157100043_157100049delinsCAGGAGC?assembly=hg19",
        "id": "chr6:g.157100043_157100049delinsCAGGAGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.156778909G>C?assembly=hg38",
        "id": "chr6:g.156778909G>C"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.156778909_156778915delinsCAGGAGC?assembly=hg38",
        "id": "chr6:g.156778909_156778915delinsCAGGAGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1455234951",
        "rs": 1455234951
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157100043-G-C?dataset=gnomad_r2_1",
        "id": "6-157100043-G-C",
        "variant": "6:157100043 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-156778909-G-C?dataset=gnomad_r3",
        "id": "6-156778909-G-C",
        "variant": "6:156778909 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-156778909-G-C?dataset=gnomad_r4",
        "id": "6-156778909-G-C",
        "variant": "6:156778909 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 156778909,
          "referenceAllele": "G",
          "start": 156778908
        }
      ],
      "hgvs": [
        "NC_000006.12:g.156778909G>C",
        "CM000668.2:g.156778909G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 157100043,
          "referenceAllele": "G",
          "start": 157100042
        }
      ],
      "hgvs": [
        "NC_000006.11:g.157100043G>C",
        "CM000668.1:g.157100043G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 157141735,
          "referenceAllele": "G",
          "start": 157141734
        }
      ],
      "hgvs": [
        "NC_000006.10:g.157141735G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5980,
          "referenceAllele": "G",
          "start": 5979
        }
      ],
      "hgvs": [
        "NG_032093.1:g.5980G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5980,
          "referenceAllele": "G",
          "start": 5979
        }
      ],
      "hgvs": [
        "NG_032093.2:g.5980G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7884,
          "referenceAllele": "G",
          "start": 7883
        }
      ],
      "hgvs": [
        "NG_066624.1:g.7884G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.11:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.8:p.Gly410Ala",
        "hgvsWellDefined": "ENSP00000055163.8:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.8:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.3:p.Gly410Ala",
        "hgvsWellDefined": "ENSP00000412835.3:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637015.2:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489729.2:p.Gly410Ala",
        "hgvsWellDefined": "ENSP00000489729.2:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2155,
          "referenceAllele": "G",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.10:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.5:p.Gly410Ala",
        "hgvsWellDefined": "ENSP00000344546.5:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.10:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gly327Ala",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636930.2:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490491.2:p.Gly410Ala",
        "hgvsWellDefined": "ENSP00000490491.2:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.1229G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.1229G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gly410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gly410Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000647938.1:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498155.1:p.Gly327Ala",
        "hgvsWellDefined": "ENSP00000498155.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000674298.1:c.969G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.9:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.4:p.Gly327Ala",
        "hgvsWellDefined": "ENSP00000344546.4:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.9:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gly327Ala",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.2:p.Gly327Ala",
        "hgvsWellDefined": "NP_059989.2:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658667006",
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_020732.3:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065783.3:p.Gly327Ala",
        "hgvsWellDefined": "NP_065783.3:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_005267069.3:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267126.2:p.Gly327Ala",
        "hgvsWellDefined": "XP_005267126.2:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001346813.1:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333742.1:p.Gly327Ala",
        "hgvsWellDefined": "NP_001333742.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.2:p.Gly327Ala",
        "hgvsWellDefined": "XP_011534286.2:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011103.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866592.1:p.Gly327Ala",
        "hgvsWellDefined": "XP_016866592.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011104.1:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866593.1:p.Gly327Ala",
        "hgvsWellDefined": "XP_016866593.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011105.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866594.1:p.Gly327Ala",
        "hgvsWellDefined": "XP_016866594.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011106.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866595.1:p.Gly327Ala",
        "hgvsWellDefined": "XP_016866595.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011107.2:c.980G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866596.1:p.Gly327Ala",
        "hgvsWellDefined": "XP_016866596.1:p.Gly327Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XR_002956289.1:n.1063G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828447133",
      "coordinates": [
        {
          "allele": "C",
          "end": 2149,
          "referenceAllele": "G",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001371656.1:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358585.1:p.Gly410Ala",
        "hgvsWellDefined": "NP_001358585.1:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828553077",
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374820.1:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361749.1:p.Gly410Ala",
        "hgvsWellDefined": "NP_001361749.1:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828554756",
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374828.1:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361757.1:p.Gly410Ala",
        "hgvsWellDefined": "NP_001361757.1:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.1229G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.1229G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gly410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gly410Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573092748",
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.3:c.1229G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.3:p.Gly410Ala",
        "hgvsWellDefined": "NP_059989.3:p.Gly410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697814"
    }
  ],
  "type": "nucleotide"
}