{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7926202",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.1675G>A (p.Glu559Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3817313",
        "active": true,
        "id": "COSM3817313"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1507880[alleleid]",
        "alleleId": 1507880,
        "preferredName": "NM_001171.6(ABCC6):c.1675G>A (p.Glu559Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1463317",
        "RCV": [
          "RCV001956608"
        ],
        "variationId": 1463317
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-16282792-C-T",
        "id": "16-16282792-C-T",
        "variant": "16:16282792 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16282792C>T?assembly=hg19",
        "id": "chr16:g.16282792C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16188935C>T?assembly=hg38",
        "id": "chr16:g.16188935C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114149656",
        "rs": 114149656
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16282792-C-T?dataset=gnomad_r2_1",
        "id": "16-16282792-C-T",
        "variant": "16:16282792 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16188935-C-T?dataset=gnomad_r3",
        "id": "16-16188935-C-T",
        "variant": "16:16188935 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16188935-C-T?dataset=gnomad_r4",
        "id": "16-16188935-C-T",
        "variant": "16:16188935 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16188935,
          "referenceAllele": "C",
          "start": 16188934
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16188935C>T",
        "CM000678.2:g.16188935C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16282792,
          "referenceAllele": "C",
          "start": 16282791
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16282792C>T",
        "CM000678.1:g.16282792C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16190293,
          "referenceAllele": "C",
          "start": 16190292
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16190293C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39537,
          "referenceAllele": "G",
          "start": 39536
        }
      ],
      "hgvs": [
        "NG_007558.2:g.39537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39683,
          "referenceAllele": "G",
          "start": 39682
        }
      ],
      "hgvs": [
        "NG_007558.3:g.39683G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Glu559Lys",
        "hgvsWellDefined": "ENSP00000483331.2:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Glu559Lys",
        "hgvsWellDefined": "ENSP00000205557.7:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Glu559Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Glu559Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Glu559Lys",
        "hgvsWellDefined": "ENSP00000205557.7:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Glu559Lys",
        "hgvsWellDefined": "ENSP00000405002.2:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.5:n.1771G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:p.Glu559Lys",
        "hgvsWellDefined": "ENSP00000483331.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Glu559Lys",
        "hgvsWellDefined": "NP_001162.4:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_011520781.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Glu445Lys",
        "hgvsWellDefined": "XP_011520782.1:p.Glu445Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Glu445Lys",
        "hgvsWellDefined": "XP_011520783.1:p.Glu445Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.1:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_011520784.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1910,
          "referenceAllele": "G",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.1910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.1911G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.1911G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627024",
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Glu445Lys",
        "hgvsWellDefined": "NP_001338729.1:p.Glu445Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.1712G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_011520781.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Glu445Lys",
        "hgvsWellDefined": "XP_011520783.1:p.Glu445Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.3:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_011520784.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_016878701.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Glu559Lys",
        "hgvsWellDefined": "XP_016878703.1:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.1711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Glu571Lys",
        "hgvsWellDefined": "XP_024306029.1:p.Glu571Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.1856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.1856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.1856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573180574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.1675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Glu559Lys",
        "hgvsWellDefined": "NP_001162.5:p.Glu559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Glu559Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Glu559Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}