{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6191018",
  "communityStandardTitle": [
    "NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=932004",
        "active": true,
        "id": "COSM932004"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=724739[alleleid]",
        "alleleId": 724739,
        "preferredName": "NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/717684",
        "RCV": [
          "RCV000890514",
          "RCV001109026",
          "RCV001002308",
          "RCV003975618"
        ],
        "variationId": 717684
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-75282990-C-T",
        "id": "11-75282990-C-T",
        "variant": "11:75282990 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75282990C>T?assembly=hg19",
        "id": "chr11:g.75282990C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75571945C>T?assembly=hg38",
        "id": "chr11:g.75571945C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375913094",
        "rs": 375913094
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75282990-C-T?dataset=gnomad_r2_1",
        "id": "11-75282990-C-T",
        "variant": "11:75282990 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75571945-C-T?dataset=gnomad_r3",
        "id": "11-75571945-C-T",
        "variant": "11:75571945 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75571945-C-T?dataset=gnomad_r4",
        "id": "11-75571945-C-T",
        "variant": "11:75571945 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 75571945,
          "referenceAllele": "C",
          "start": 75571944
        }
      ],
      "hgvs": [
        "NC_000011.10:g.75571945C>T",
        "CM000673.2:g.75571945C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 75282990,
          "referenceAllele": "C",
          "start": 75282989
        }
      ],
      "hgvs": [
        "NC_000011.9:g.75282990C>T",
        "CM000673.1:g.75282990C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 74960638,
          "referenceAllele": "C",
          "start": 74960637
        }
      ],
      "hgvs": [
        "NC_000011.8:g.74960638C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14821,
          "referenceAllele": "C",
          "start": 14820
        }
      ],
      "hgvs": [
        "NG_012052.1:g.14821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.8:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.4:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.1119C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.1119C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Arg373="
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Arg373="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000649490.1:c.*1770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497544.1:n.*1770C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.7:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.3:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "C",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000524558.5:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434412.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000525876.1:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433532.1:p.Arg156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000526638.1:c.32C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000533603.5:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434657.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292800",
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826283643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.3:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_006718729.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718792.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545326.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543628.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545327.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543629.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_024448756.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304524.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292800",
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.2:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826283643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.5:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680045",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.1119C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.1119C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Arg373="
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Arg373="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292800",
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.3:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714275"
    }
  ],
  "type": "nucleotide"
}