{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232397804",
  "communityStandardTitle": [
    "NM_002075.4(GNB3):c.73T>C (p.Cys25Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=840223[alleleid]",
        "alleleId": 840223,
        "preferredName": "NM_002075.4(GNB3):c.73T>C (p.Cys25Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/850489",
        "RCV": [
          "RCV001054666"
        ],
        "variationId": 850489
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6950765T>C?assembly=hg19",
        "id": "chr12:g.6950765T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6841601T>C?assembly=hg38",
        "id": "chr12:g.6841601T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1002316792",
        "rs": 1002316792
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6950765-T-C?dataset=gnomad_r2_1",
        "id": "12-6950765-T-C",
        "variant": "12:6950765 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6841601-T-C?dataset=gnomad_r3",
        "id": "12-6841601-T-C",
        "variant": "12:6841601 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6841601-T-C?dataset=gnomad_r4",
        "id": "12-6841601-T-C",
        "variant": "12:6841601 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6841601,
          "referenceAllele": "T",
          "start": 6841600
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6841601T>C",
        "CM000674.2:g.6841601T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6950765,
          "referenceAllele": "T",
          "start": 6950764
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6950765T>C",
        "CM000674.1:g.6950765T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6821026,
          "referenceAllele": "T",
          "start": 6821025
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6821026T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6391,
          "referenceAllele": "T",
          "start": 6390
        }
      ],
      "hgvs": [
        "NG_009100.1:g.6391T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18229,
          "referenceAllele": "T",
          "start": 18228
        }
      ],
      "hgvs": [
        "NG_033740.1:g.18229T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6391,
          "referenceAllele": "T",
          "start": 6390
        }
      ],
      "hgvs": [
        "NG_009100.2:g.6391T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000229264.8:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229264.3:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000229264.3:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229264.8:c.73T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002075.4:c.73T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229264.3:p.Cys25Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002066.1:p.Cys25Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000675241.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501677.1:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000501677.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000229264.7:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229264.3:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000229264.3:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000435982.6:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414734.2:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000414734.2:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75,
          "referenceAllele": "T",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000537035.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445967.1:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000445967.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000539127.5:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444325.1:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000444325.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000540458.5:n.1424T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "T",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000541257.5:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442002.1:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000442002.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "T",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000541978.5:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439753.2:p.Cys25Arg",
        "hgvsWellDefined": "ENSP00000439753.2:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "T",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "ENST00000542868.1:n.561T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826841580",
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "NM_001297571.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284500.1:p.Cys25Arg",
        "hgvsWellDefined": "NP_001284500.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139704996",
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "NM_002075.3:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002066.1:p.Cys25Arg",
        "hgvsWellDefined": "NP_002066.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "XM_011520953.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519255.1:p.Cys25Arg",
        "hgvsWellDefined": "XP_011519255.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "XM_011520954.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519256.1:p.Cys25Arg",
        "hgvsWellDefined": "XP_011519256.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "XM_011520953.3:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519255.1:p.Cys25Arg",
        "hgvsWellDefined": "XP_011519255.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826841580",
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "NM_001297571.2:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284500.1:p.Cys25Arg",
        "hgvsWellDefined": "NP_001284500.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139704996",
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004400",
      "geneNCBI_id": 2784,
      "geneSymbol": "GNB3",
      "hgvs": [
        "NM_002075.4:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002066.1:p.Cys25Arg",
        "hgvsWellDefined": "NP_002066.1:p.Cys25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229264.8:c.73T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002075.4:c.73T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229264.3:p.Cys25Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002066.1:p.Cys25Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}