{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342135224",
  "communityStandardTitle": [
    "NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682747[alleleid]",
        "alleleId": 682747,
        "preferredName": "NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694655",
        "RCV": [
          "RCV001366486",
          "RCV002470996",
          "RCV003493750"
        ],
        "variationId": 694655
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.145416605G>A?assembly=hg19",
        "id": "chr1:g.145416605G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.146018408C>T?assembly=hg38",
        "id": "chr1:g.146018408C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553769457",
        "rs": 1553769457
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 146018408,
          "referenceAllele": "C",
          "start": 146018407
        }
      ],
      "hgvs": [
        "NC_000001.11:g.146018408C>T",
        "CM000663.2:g.146018408C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 145416605,
          "referenceAllele": "G",
          "start": 145416604
        }
      ],
      "hgvs": [
        "NC_000001.10:g.145416605G>A",
        "CM000663.1:g.145416605G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 144127962,
          "referenceAllele": "G",
          "start": 144127961
        }
      ],
      "hgvs": [
        "NC_000001.9:g.144127962G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8415,
          "referenceAllele": "G",
          "start": 8414
        }
      ],
      "hgvs": [
        "NG_011568.1:g.8415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001828"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000336751.11:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337014.5:p.Cys317Tyr",
        "hgvsWellDefined": "ENSP00000337014.5:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336751.11:c.950G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213653.4:c.950G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337014.5:p.Cys317Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_998818.1:p.Cys317Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000636675.1:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490072.1:p.Cys91Tyr",
        "hgvsWellDefined": "ENSP00000490072.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000336751.10:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337014.5:p.Cys317Tyr",
        "hgvsWellDefined": "ENSP00000337014.5:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000357836.5:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350495.5:p.Cys204Tyr",
        "hgvsWellDefined": "ENSP00000350495.5:p.Cys204Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000475797.1:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425716.1:p.Cys91Tyr",
        "hgvsWellDefined": "ENSP00000425716.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000497365.5:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421820.1:p.Cys91Tyr",
        "hgvsWellDefined": "ENSP00000421820.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826958665",
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001316767.1:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303696.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_001303696.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830272634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_145277.4:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_660320.3:p.Cys204Tyr",
        "hgvsWellDefined": "NP_660320.3:p.Cys204Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830472437",
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_202004.3:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_973733.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_973733.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075865",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213652.3:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998817.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_998817.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830527796",
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213653.3:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998818.1:p.Cys317Tyr",
        "hgvsWellDefined": "NP_998818.1:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "XM_005272932.1:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272989.1:p.Cys317Tyr",
        "hgvsWellDefined": "XP_005272989.1:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826958665",
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001316767.2:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303696.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_001303696.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830272634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_145277.5:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_660320.3:p.Cys204Tyr",
        "hgvsWellDefined": "NP_660320.3:p.Cys204Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830472437",
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_202004.4:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_973733.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_973733.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075865",
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213652.4:c.272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998817.1:p.Cys91Tyr",
        "hgvsWellDefined": "NP_998817.1:p.Cys91Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828827457",
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001379352.1:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366281.1:p.Cys317Tyr",
        "hgvsWellDefined": "NP_001366281.1:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830527796",
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213653.4:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998818.1:p.Cys317Tyr",
        "hgvsWellDefined": "NP_998818.1:p.Cys317Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336751.11:c.950G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213653.4:c.950G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337014.5:p.Cys317Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_998818.1:p.Cys317Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}