{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3710783",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.368C>G (p.Ser123Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4592469",
        "active": true,
        "id": "COSM4592469"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4592470",
        "active": true,
        "id": "COSM4592470"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4592471",
        "active": true,
        "id": "COSM4592471"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4438721[alleleid]",
        "alleleId": 4438721,
        "preferredName": "NM_002117.6(HLA-C):c.368C>G (p.Ser123Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4325352",
        "RCV": [
          "RCV005980150",
          "RCV005980148",
          "RCV005980147",
          "RCV005980155",
          "RCV005980149",
          "RCV005980151",
          "RCV005980152",
          "RCV005980153",
          "RCV005980154"
        ],
        "variationId": 4325352
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31239101-G-C",
        "id": "6-31239101-G-C",
        "variant": "6:31239101 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31239101G>C?assembly=hg19",
        "id": "chr6:g.31239101G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31271324G>C?assembly=hg38",
        "id": "chr6:g.31271324G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131115",
        "rs": 1131115
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31239101-G-C?dataset=gnomad_r2_1",
        "id": "6-31239101-G-C",
        "variant": "6:31239101 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271324-G-C?dataset=gnomad_r3",
        "id": "6-31271324-G-C",
        "variant": "6:31271324 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271324-G-C?dataset=gnomad_r4",
        "id": "6-31271324-G-C",
        "variant": "6:31271324 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31271324,
          "referenceAllele": "G",
          "start": 31271323
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31271324G>C",
        "CM000668.2:g.31271324G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31239101,
          "referenceAllele": "G",
          "start": 31239100
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31239101G>C",
        "CM000668.1:g.31239101G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31347080,
          "referenceAllele": "G",
          "start": 31347079
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31347080G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.368C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser123Cys",
        "hgvsWellDefined": "ENSP00000365402.5:p.Ser123Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.368C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.368C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser123Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser123Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.368C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser123Cys",
        "hgvsWellDefined": "ENSP00000365402.5:p.Ser123Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.351C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:p.Val117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.368C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:p.Ser123Cys",
        "hgvsWellDefined": "ENSP00000372819.3:p.Ser123Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.366C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000484378.1:n.637C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.557C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126270",
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.368C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser123Cys",
        "hgvsWellDefined": "NP_002108.4:p.Ser123Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126270",
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.368C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser123Cys",
        "hgvsWellDefined": "NP_002108.4:p.Ser123Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.368C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.368C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser123Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser123Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}