{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5950014",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.592A>C (p.Arg198=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326377[alleleid]",
        "alleleId": 326377,
        "preferredName": "NM_000448.3(RAG1):c.592A>C (p.Arg198=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304496",
        "RCV": [
          "RCV000350023",
          "RCV000406889",
          "RCV004544513",
          "RCV002056200"
        ],
        "variationId": 304496
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-36595446-A-C",
        "id": "11-36595446-A-C",
        "variant": "11:36595446 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36595446A>C?assembly=hg19",
        "id": "chr11:g.36595446A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36573896A>C?assembly=hg38",
        "id": "chr11:g.36573896A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746425890",
        "rs": 746425890
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36595446-A-C?dataset=gnomad_r2_1",
        "id": "11-36595446-A-C",
        "variant": "11:36595446 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36573896-A-C?dataset=gnomad_r3",
        "id": "11-36573896-A-C",
        "variant": "11:36573896 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36573896-A-C?dataset=gnomad_r4",
        "id": "11-36573896-A-C",
        "variant": "11:36573896 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36573896,
          "referenceAllele": "A",
          "start": 36573895
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36573896A>C",
        "CM000673.2:g.36573896A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36595446,
          "referenceAllele": "A",
          "start": 36595445
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36595446A>C",
        "CM000673.1:g.36595446A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36552022,
          "referenceAllele": "A",
          "start": 36552021
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552022A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10884,
          "referenceAllele": "A",
          "start": 10883
        }
      ],
      "hgvs": [
        "NG_007528.1:g.10884A>C",
        "LRG_98:g.10884A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "A",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.592A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.592A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg198="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg198="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "referenceAllele": "A",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.592A>C",
        "LRG_98t1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "referenceAllele": "A",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825177258",
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.592A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.592A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg198="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg198="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828706613",
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707294",
      "coordinates": [
        {
          "allele": "C",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707975",
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708564",
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Arg198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}