{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3710755",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.420C>A (p.Ser140=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4160745"
      },
      {
        "active": false,
        "id": "COSM4160746"
      },
      {
        "active": false,
        "id": "COSM4160747"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31239049-G-T",
        "id": "6-31239049-G-T",
        "variant": "6:31239049 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31239049G>T?assembly=hg19",
        "id": "chr6:g.31239049G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31271272G>T?assembly=hg38",
        "id": "chr6:g.31271272G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1065406",
        "rs": 1065406
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31239049-G-T?dataset=gnomad_r2_1",
        "id": "6-31239049-G-T",
        "variant": "6:31239049 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271272-G-T?dataset=gnomad_r3",
        "id": "6-31271272-G-T",
        "variant": "6:31271272 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271272-G-T?dataset=gnomad_r4",
        "id": "6-31271272-G-T",
        "variant": "6:31271272 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31271272,
          "referenceAllele": "G",
          "start": 31271271
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31271272G>T",
        "CM000668.2:g.31271272G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31239049,
          "referenceAllele": "G",
          "start": 31239048
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31239049G>T",
        "CM000668.1:g.31239049G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31347028,
          "referenceAllele": "G",
          "start": 31347027
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31347028G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "C",
          "start": 5859
        }
      ],
      "hgvs": [
        "NG_029422.2:g.5860C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004374"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.420C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.420C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.420C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser140="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser140="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.420C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.*7C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:n.*7C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.420C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:p.Ser140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.418C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000484378.1:n.689C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.779C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.609C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124740",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.420C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124740",
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.420C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.420C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.420C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser140="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser140="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}