{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8986874",
  "communityStandardTitle": [
    "NM_002639.5(SERPINB5):c.608C>T (p.Thr203Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2210944[alleleid]",
        "alleleId": 2210944,
        "preferredName": "NM_002639.5(SERPINB5):c.608C>T (p.Thr203Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221039",
        "RCV": [
          "RCV004086019"
        ],
        "variationId": 2221039
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-61166393-C-T",
        "id": "18-61166393-C-T",
        "variant": "18:61166393 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.61166393C>T?assembly=hg19",
        "id": "chr18:g.61166393C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.63499160C>T?assembly=hg38",
        "id": "chr18:g.63499160C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746448260",
        "rs": 746448260
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-61166393-C-T?dataset=gnomad_r2_1",
        "id": "18-61166393-C-T",
        "variant": "18:61166393 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-63499160-C-T?dataset=gnomad_r3",
        "id": "18-63499160-C-T",
        "variant": "18:63499160 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-63499160-C-T?dataset=gnomad_r4",
        "id": "18-63499160-C-T",
        "variant": "18:63499160 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 63499160,
          "referenceAllele": "C",
          "start": 63499159
        }
      ],
      "hgvs": [
        "NC_000018.10:g.63499160C>T",
        "CM000680.2:g.63499160C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 61166393,
          "referenceAllele": "C",
          "start": 61166392
        }
      ],
      "hgvs": [
        "NC_000018.9:g.61166393C>T",
        "CM000680.1:g.61166393C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 59317373,
          "referenceAllele": "C",
          "start": 59317372
        }
      ],
      "hgvs": [
        "NC_000018.8:g.59317373C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "ENST00000382771.9:c.608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372221.4:p.Thr203Met",
        "hgvsWellDefined": "ENSP00000372221.4:p.Thr203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382771.9:c.608C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002639.5:c.608C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372221.4:p.Thr203Met"
          },
          "RefSeq": {
            "hgvs": "NP_002630.2:p.Thr203Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "ENST00000382771.8:c.608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372221.4:p.Thr203Met",
        "hgvsWellDefined": "ENSP00000372221.4:p.Thr203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "ENST00000464346.1:n.290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "ENST00000465652.5:n.281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580280298",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "NM_002639.4:c.608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002630.2:p.Thr203Met",
        "hgvsWellDefined": "NP_002630.2:p.Thr203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "XM_006722483.1:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722546.1:p.Thr32Met",
        "hgvsWellDefined": "XP_006722546.1:p.Thr32Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "XM_006722483.3:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722546.1:p.Thr32Met",
        "hgvsWellDefined": "XP_006722546.1:p.Thr32Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580280298",
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008949",
      "geneNCBI_id": 5268,
      "geneSymbol": "SERPINB5",
      "hgvs": [
        "NM_002639.5:c.608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002630.2:p.Thr203Met",
        "hgvsWellDefined": "NP_002630.2:p.Thr203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382771.9:c.608C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002639.5:c.608C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372221.4:p.Thr203Met"
          },
          "RefSeq": {
            "hgvs": "NP_002630.2:p.Thr203Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}