{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411366988",
  "communityStandardTitle": [
    "NM_003661.4(APOL1):c.684G>C (p.Met228Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36661566G>C?assembly=hg19",
        "id": "chr22:g.36661566G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36265520G>C?assembly=hg38",
        "id": "chr22:g.36265520G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/136175",
        "rs": 136175
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36661566-G-C?dataset=gnomad_r2_1",
        "id": "22-36661566-G-C",
        "variant": "22:36661566 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36265520-G-C?dataset=gnomad_r4",
        "id": "22-36265520-G-C",
        "variant": "22:36265520 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36265520,
          "referenceAllele": "G",
          "start": 36265519
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36265520G>C",
        "CM000684.2:g.36265520G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36661566,
          "referenceAllele": "G",
          "start": 36661565
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36661566G>C",
        "CM000684.1:g.36661566G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 34991512,
          "referenceAllele": "G",
          "start": 34991511
        }
      ],
      "hgvs": [
        "NC_000022.9:g.34991512G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17450,
          "referenceAllele": "G",
          "start": 17449
        }
      ],
      "hgvs": [
        "NG_023228.1:g.17450G>C",
        "LRG_169:g.17450G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003721"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000427990.6:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391302.2:p.Met228Ile",
        "hgvsWellDefined": "ENSP00000391302.2:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000433768.6:c.*446G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392514.1:n.*446G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000438034.6:c.771G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404525.2:p.Met257Ile",
        "hgvsWellDefined": "ENSP00000404525.2:p.Met257Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000397278.8:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380448.4:p.Met228Ile",
        "hgvsWellDefined": "ENSP00000380448.4:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397278.8:c.684G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003661.4:c.684G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380448.4:p.Met228Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003652.2:p.Met228Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000319136.8:c.732G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317674.4:p.Met244Ile",
        "hgvsWellDefined": "ENSP00000317674.4:p.Met244Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000397278.7:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380448.3:p.Met228Ile",
        "hgvsWellDefined": "ENSP00000380448.3:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000397279.8:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380449.4:p.Met228Ile",
        "hgvsWellDefined": "ENSP00000380449.4:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000422706.5:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411507.1:p.Met228Ile",
        "hgvsWellDefined": "ENSP00000411507.1:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "ENST00000426053.5:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388477.1:p.Met210Ile",
        "hgvsWellDefined": "ENSP00000388477.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825828768",
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001136540.1:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130012.1:p.Met228Ile",
        "hgvsWellDefined": "NP_001130012.1:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825828968",
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001136541.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130013.1:p.Met210Ile",
        "hgvsWellDefined": "NP_001130013.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829464206",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_003661.3:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003652.2:p.Met228Ile",
        "hgvsWellDefined": "NP_003652.2:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499298170",
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_145343.2:c.732G>C",
        "LRG_169t1:c.732G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_663318.1:p.Met244Ile",
        "hgvsWellDefined": "NP_663318.1:p.Met244Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "XM_005261796.2:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261853.1:p.Met210Ile",
        "hgvsWellDefined": "XP_005261853.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "XM_011530478.1:c.321G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528780.1:p.Met107Ile",
        "hgvsWellDefined": "XP_011528780.1:p.Met107Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828071455",
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001362927.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349856.1:p.Met210Ile",
        "hgvsWellDefined": "NP_001349856.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "XM_011530478.2:c.321G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528780.1:p.Met107Ile",
        "hgvsWellDefined": "XP_011528780.1:p.Met107Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828071455",
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001362927.2:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349856.1:p.Met210Ile",
        "hgvsWellDefined": "NP_001349856.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829464206",
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_003661.4:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003652.2:p.Met228Ile",
        "hgvsWellDefined": "NP_003652.2:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397278.8:c.684G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003661.4:c.684G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380448.4:p.Met228Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003652.2:p.Met228Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825828768",
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001136540.2:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130012.1:p.Met228Ile",
        "hgvsWellDefined": "NP_001130012.1:p.Met228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825828968",
      "coordinates": [
        {
          "allele": "C",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_001136541.2:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130013.1:p.Met210Ile",
        "hgvsWellDefined": "NP_001130013.1:p.Met210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499298170",
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000618",
      "geneNCBI_id": 8542,
      "geneSymbol": "APOL1",
      "hgvs": [
        "NM_145343.3:c.732G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_663318.1:p.Met244Ile",
        "hgvsWellDefined": "NP_663318.1:p.Met244Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784300"
    }
  ],
  "type": "nucleotide"
}