{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122904",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.2210G>A (p.Arg737His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1470480",
        "active": true,
        "id": "COSM1470480"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28188[alleleid]",
        "alleleId": 28188,
        "preferredName": "NM_000448.3(RAG1):c.2210G>A (p.Arg737His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13149",
        "RCV": [
          "RCV000014032",
          "RCV001027614",
          "RCV001091955",
          "RCV001389160",
          "RCV003473093",
          "RCV003227600"
        ],
        "variationId": 13149
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-36597064-G-A",
        "id": "11-36597064-G-A",
        "variant": "11:36597064 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36597064G>A?assembly=hg19",
        "id": "chr11:g.36597064G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36575514G>A?assembly=hg38",
        "id": "chr11:g.36575514G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894286",
        "rs": 104894286
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36597064-G-A?dataset=gnomad_r2_1",
        "id": "11-36597064-G-A",
        "variant": "11:36597064 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36575514-G-A?dataset=gnomad_r3",
        "id": "11-36575514-G-A",
        "variant": "11:36575514 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36575514-G-A?dataset=gnomad_r4",
        "id": "11-36575514-G-A",
        "variant": "11:36575514 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36575514,
          "referenceAllele": "G",
          "start": 36575513
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36575514G>A",
        "CM000673.2:g.36575514G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36597064,
          "referenceAllele": "G",
          "start": 36597063
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36597064G>A",
        "CM000673.1:g.36597064G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36553640,
          "referenceAllele": "G",
          "start": 36553639
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36553640G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12502,
          "referenceAllele": "G",
          "start": 12501
        }
      ],
      "hgvs": [
        "NG_007528.1:g.12502G>A",
        "LRG_98:g.12502G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2506,
          "referenceAllele": "G",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Arg737His",
        "hgvsWellDefined": "ENSP00000513411.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2390,
          "referenceAllele": "G",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Arg737His",
        "hgvsWellDefined": "ENSP00000513412.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2633,
          "referenceAllele": "G",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Arg737His",
        "hgvsWellDefined": "ENSP00000513413.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "G",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg737His",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.2210G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.2210G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg737His"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg737His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2322,
          "referenceAllele": "G",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg737His",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Arg737His",
        "hgvsWellDefined": "ENSP00000434610.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122906",
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "referenceAllele": "G",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.2210G>A",
        "LRG_98t1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Arg737His",
        "hgvsWellDefined": "NP_000439.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg737His",
        "hgvsWellDefined": "XP_005253098.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "G",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg737His",
        "hgvsWellDefined": "XP_011518552.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Arg737His",
        "hgvsWellDefined": "XP_011518553.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2396,
          "referenceAllele": "G",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg737His",
        "hgvsWellDefined": "XP_005253098.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2510,
          "referenceAllele": "G",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg737His",
        "hgvsWellDefined": "XP_011518552.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825177586",
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "G",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Arg737His",
        "hgvsWellDefined": "NP_000439.2:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.2210G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.2210G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg737His"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg737His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828706940",
      "coordinates": [
        {
          "allele": "A",
          "end": 2683,
          "referenceAllele": "G",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Arg737His",
        "hgvsWellDefined": "NP_001364206.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707621",
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Arg737His",
        "hgvsWellDefined": "NP_001364207.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708302",
      "coordinates": [
        {
          "allele": "A",
          "end": 2523,
          "referenceAllele": "G",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Arg737His",
        "hgvsWellDefined": "NP_001364208.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074433",
      "coordinates": [
        {
          "allele": "A",
          "end": 2409,
          "referenceAllele": "G",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.2210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Arg737His",
        "hgvsWellDefined": "NP_001364209.1:p.Arg737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}