{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397584179",
  "communityStandardTitle": [
    "NM_002615.7(SERPINF1):c.215C>G (p.Thr72Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1673276C>G?assembly=hg19",
        "id": "chr17:g.1673276C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1769982C>G?assembly=hg38",
        "id": "chr17:g.1769982C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1136287",
        "rs": 1136287
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-1769982-C-G?dataset=gnomad_r4",
        "id": "17-1769982-C-G",
        "variant": "17:1769982 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1769982,
          "referenceAllele": "C",
          "start": 1769981
        }
      ],
      "hgvs": [
        "NC_000017.11:g.1769982C>G",
        "CM000679.2:g.1769982C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1673276,
          "referenceAllele": "C",
          "start": 1673275
        }
      ],
      "hgvs": [
        "NC_000017.10:g.1673276C>G",
        "CM000679.1:g.1673276C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1620026,
          "referenceAllele": "C",
          "start": 1620025
        }
      ],
      "hgvs": [
        "NC_000017.9:g.1620026C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13018,
          "referenceAllele": "C",
          "start": 13017
        }
      ],
      "hgvs": [
        "NG_028180.1:g.13018C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.9:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000254722.4:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.215C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.215C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Thr72Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Thr72Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.8:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000254722.4:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000570731.5:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459869.1:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000459869.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000571149.5:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460905.1:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000460905.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000571360.5:c.176C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461660.1:p.Thr59Arg",
        "hgvsWellDefined": "ENSP00000461660.1:p.Thr59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000571870.5:n.456C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000573770.5:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459107.1:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000459107.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000576406.5:c.-347C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461214.1:n.-347C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000577053.1:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460842.1:p.Thr72Arg",
        "hgvsWellDefined": "ENSP00000460842.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083950862",
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.5:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Thr72Arg",
        "hgvsWellDefined": "NP_002606.3:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.1:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Thr72Arg",
        "hgvsWellDefined": "NP_001316832.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.1:c.-347C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-347C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083950862",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.6:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Thr72Arg",
        "hgvsWellDefined": "NP_002606.3:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083950862",
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.7:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Thr72Arg",
        "hgvsWellDefined": "NP_002606.3:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.215C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.215C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Thr72Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Thr72Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.2:c.215C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Thr72Arg",
        "hgvsWellDefined": "NP_001316832.1:p.Thr72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.2:c.-347C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-347C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718575"
    }
  ],
  "type": "nucleotide"
}