{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4067629",
  "communityStandardTitle": [
    "NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=486408[alleleid]",
        "alleleId": 486408,
        "preferredName": "NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/493445",
        "RCV": [
          "RCV000585064",
          "RCV001807297",
          "RCV002315880"
        ],
        "variationId": 493445
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-157520021-G-A",
        "id": "6-157520021-G-A",
        "variant": "6:157520021 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157520021G>A?assembly=hg19",
        "id": "chr6:g.157520021G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157198887G>A?assembly=hg38",
        "id": "chr6:g.157198887G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151115781",
        "rs": 151115781
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157520021-G-A?dataset=gnomad_r2_1",
        "id": "6-157520021-G-A",
        "variant": "6:157520021 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157198887-G-A?dataset=gnomad_r3",
        "id": "6-157198887-G-A",
        "variant": "6:157198887 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157198887-G-A?dataset=gnomad_r4",
        "id": "6-157198887-G-A",
        "variant": "6:157198887 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 157198887,
          "referenceAllele": "G",
          "start": 157198886
        }
      ],
      "hgvs": [
        "NC_000006.12:g.157198887G>A",
        "CM000668.2:g.157198887G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 157520021,
          "referenceAllele": "G",
          "start": 157520020
        }
      ],
      "hgvs": [
        "NC_000006.11:g.157520021G>A",
        "CM000668.1:g.157520021G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 157561713,
          "referenceAllele": "G",
          "start": 157561712
        }
      ],
      "hgvs": [
        "NC_000006.10:g.157561713G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425958,
          "referenceAllele": "G",
          "start": 425957
        }
      ],
      "hgvs": [
        "NG_032093.1:g.425958G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425958,
          "referenceAllele": "G",
          "start": 425957
        }
      ],
      "hgvs": [
        "NG_032093.2:g.425958G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427862,
          "referenceAllele": "G",
          "start": 427861
        }
      ],
      "hgvs": [
        "NG_066624.1:g.427862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4300,
          "referenceAllele": "G",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.11:c.4300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.8:p.Gly1434Ser",
        "hgvsWellDefined": "ENSP00000055163.8:p.Gly1434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4369,
          "referenceAllele": "G",
          "start": 4368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.8:c.4369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.3:p.Gly1457Ser",
        "hgvsWellDefined": "ENSP00000412835.3:p.Gly1457Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4588,
          "referenceAllele": "G",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637015.2:c.4588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489729.2:p.Gly1530Ser",
        "hgvsWellDefined": "ENSP00000489729.2:p.Gly1530Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5265,
          "referenceAllele": "G",
          "start": 5264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.10:c.4339G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.5:p.Gly1447Ser",
        "hgvsWellDefined": "ENSP00000344546.5:p.Gly1447Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "G",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.10:c.4051G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gly1351Ser",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gly1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2617,
          "referenceAllele": "G",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.7:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.Gly873Ser",
        "hgvsWellDefined": "ENSP00000412835.2:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2367,
          "referenceAllele": "G",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000635849.1:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490948.1:p.Gly594Ser",
        "hgvsWellDefined": "ENSP00000490948.1:p.Gly594Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "G",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000635957.1:c.1411G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490385.1:p.Gly471Ser",
        "hgvsWellDefined": "ENSP00000490385.1:p.Gly471Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2922,
          "referenceAllele": "G",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636227.1:n.2922G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636254.1:n.379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4762,
          "referenceAllele": "G",
          "start": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636930.2:c.4459G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490491.2:p.Gly1487Ser",
        "hgvsWellDefined": "ENSP00000490491.2:p.Gly1487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.4459G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.4459G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gly1487Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gly1487Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2456,
          "referenceAllele": "G",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636940.1:n.2456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637015.1:c.1827G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "referenceAllele": "G",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637568.1:c.1741G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637741.1:n.1125G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637810.1:c.1801G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489636.1:p.Gly601Ser",
        "hgvsWellDefined": "ENSP00000489636.1:p.Gly601Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "G",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637904.1:c.1960G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490550.1:p.Gly654Ser",
        "hgvsWellDefined": "ENSP00000490550.1:p.Gly654Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4090,
          "referenceAllele": "G",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000647938.1:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498155.1:p.Gly1364Ser",
        "hgvsWellDefined": "ENSP00000498155.1:p.Gly1364Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4646,
          "referenceAllele": "G",
          "start": 4645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.9:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.4:p.Gly1364Ser",
        "hgvsWellDefined": "ENSP00000344546.4:p.Gly1364Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4052,
          "referenceAllele": "G",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.9:c.4051G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gly1351Ser",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gly1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2617,
          "referenceAllele": "G",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.6:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.Gly873Ser",
        "hgvsWellDefined": "ENSP00000412835.2:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "G",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.2:c.4051G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.2:p.Gly1351Ser",
        "hgvsWellDefined": "NP_059989.2:p.Gly1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829950972",
      "coordinates": [
        {
          "allele": "A",
          "end": 4090,
          "referenceAllele": "G",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_020732.3:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065783.3:p.Gly1364Ser",
        "hgvsWellDefined": "NP_065783.3:p.Gly1364Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4248,
          "referenceAllele": "G",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_005267069.3:c.4210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267126.2:p.Gly1404Ser",
        "hgvsWellDefined": "XP_005267126.2:p.Gly1404Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "G",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.1:c.3289G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.1:p.Gly1097Ser",
        "hgvsWellDefined": "XP_011534286.1:p.Gly1097Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3174,
          "referenceAllele": "G",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535985.1:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534287.1:p.Gly1037Ser",
        "hgvsWellDefined": "XP_011534287.1:p.Gly1037Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2899,
          "referenceAllele": "G",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535986.1:c.2869G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534288.1:p.Gly957Ser",
        "hgvsWellDefined": "XP_011534288.1:p.Gly957Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535987.1:c.2488G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534289.1:p.Gly830Ser",
        "hgvsWellDefined": "XP_011534289.1:p.Gly830Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535988.1:c.1351G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534290.1:p.Gly451Ser",
        "hgvsWellDefined": "XP_011534290.1:p.Gly451Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866226",
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001346813.1:c.4210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333742.1:p.Gly1404Ser",
        "hgvsWellDefined": "NP_001333742.1:p.Gly1404Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044063",
      "coordinates": [
        {
          "allele": "A",
          "end": 2354,
          "referenceAllele": "G",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.1:c.1960G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:p.Gly654Ser",
        "hgvsWellDefined": "NP_001350654.1:p.Gly654Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4496,
          "referenceAllele": "G",
          "start": 4495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.2:c.4420G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.2:p.Gly1474Ser",
        "hgvsWellDefined": "XP_011534286.2:p.Gly1474Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535988.3:c.1351G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534290.1:p.Gly451Ser",
        "hgvsWellDefined": "XP_011534290.1:p.Gly451Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4397,
          "referenceAllele": "G",
          "start": 4396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011103.2:c.4321G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866592.1:p.Gly1441Ser",
        "hgvsWellDefined": "XP_016866592.1:p.Gly1441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4366,
          "referenceAllele": "G",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011104.1:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866593.1:p.Gly1431Ser",
        "hgvsWellDefined": "XP_016866593.1:p.Gly1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011105.2:c.4261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866594.1:p.Gly1421Ser",
        "hgvsWellDefined": "XP_016866594.1:p.Gly1421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4207,
          "referenceAllele": "G",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011106.2:c.4132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866595.1:p.Gly1378Ser",
        "hgvsWellDefined": "XP_016866595.1:p.Gly1378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4187,
          "referenceAllele": "G",
          "start": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011107.2:c.4111G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866596.1:p.Gly1371Ser",
        "hgvsWellDefined": "XP_016866596.1:p.Gly1371Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4426,
          "endIntronDirection": "-",
          "endIntronOffset": 1817,
          "referenceAllele": "G",
          "start": 4426,
          "startIntronDirection": "-",
          "startIntronOffset": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XR_002956289.1:n.4427-1818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044063",
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.2:c.1960G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:p.Gly654Ser",
        "hgvsWellDefined": "NP_001350654.1:p.Gly654Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448500",
      "coordinates": [
        {
          "allele": "A",
          "end": 5259,
          "referenceAllele": "G",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001371656.1:c.4339G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358585.1:p.Gly1447Ser",
        "hgvsWellDefined": "NP_001358585.1:p.Gly1447Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828553610",
      "coordinates": [
        {
          "allele": "A",
          "end": 4642,
          "referenceAllele": "G",
          "start": 4641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374820.1:c.4339G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361749.1:p.Gly1447Ser",
        "hgvsWellDefined": "NP_001361749.1:p.Gly1447Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828555405",
      "coordinates": [
        {
          "allele": "A",
          "end": 4762,
          "referenceAllele": "G",
          "start": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374828.1:c.4459G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361757.1:p.Gly1487Ser",
        "hgvsWellDefined": "NP_001361757.1:p.Gly1487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.4459G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.4459G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gly1487Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gly1487Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829868923",
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.3:c.4300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.3:p.Gly1434Ser",
        "hgvsWellDefined": "NP_059989.3:p.Gly1434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697814"
    }
  ],
  "type": "nucleotide"
}