{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342143118",
  "communityStandardTitle": [
    "NM_213653.4(HJV):c.238T>A (p.Cys80Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.145415419T>A?assembly=hg19",
        "id": "chr1:g.145415419T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.146019594A>T?assembly=hg38",
        "id": "chr1:g.146019594A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940586",
        "rs": 28940586
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-146019594-A-T?dataset=gnomad_r4",
        "id": "1-146019594-A-T",
        "variant": "1:146019594 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 146019594,
          "referenceAllele": "A",
          "start": 146019593
        }
      ],
      "hgvs": [
        "NC_000001.11:g.146019594A>T",
        "CM000663.2:g.146019594A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 145415419,
          "referenceAllele": "T",
          "start": 145415418
        }
      ],
      "hgvs": [
        "NC_000001.10:g.145415419T>A",
        "CM000663.1:g.145415419T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 144126776,
          "referenceAllele": "T",
          "start": 144126775
        }
      ],
      "hgvs": [
        "NC_000001.9:g.144126776T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7229,
          "referenceAllele": "T",
          "start": 7228
        }
      ],
      "hgvs": [
        "NG_011568.1:g.7229T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001828"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "T",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000336751.11:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337014.5:p.Cys80Ser",
        "hgvsWellDefined": "ENSP00000337014.5:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336751.11:c.238T>A"
          },
          "RefSeq": {
            "hgvs": "NM_213653.4:c.238T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337014.5:p.Cys80Ser"
          },
          "RefSeq": {
            "hgvs": "NP_998818.1:p.Cys80Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 126,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000636675.1:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490072.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "T",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000336751.10:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337014.5:p.Cys80Ser",
        "hgvsWellDefined": "ENSP00000337014.5:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000357836.5:c.-102T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350495.5:n.-102T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000421822.2:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411863.2:p.Cys80Ser",
        "hgvsWellDefined": "ENSP00000411863.2:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 893,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000475797.1:c.-21-894T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425716.1:n.-21-894T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000497365.5:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421820.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "ENST00000634927.1:c.134+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489347.1:n.134+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001316767.1:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303696.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "T",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_145277.4:c.-102T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_660320.3:n.-102T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_202004.3:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_973733.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 893,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213652.3:c.-21-894T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998817.1:n.-21-894T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888854",
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "T",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213653.3:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998818.1:p.Cys80Ser",
        "hgvsWellDefined": "NP_998818.1:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "XM_005272932.1:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272989.1:p.Cys80Ser",
        "hgvsWellDefined": "XP_005272989.1:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001316767.2:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303696.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_145277.5:c.-102T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_660320.3:n.-102T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 104,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_202004.4:c.-22+104T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_973733.1:n.-22+104T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 893,
          "referenceAllele": "T",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213652.4:c.-21-894T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998817.1:n.-21-894T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001379352.1:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366281.1:p.Cys80Ser",
        "hgvsWellDefined": "NP_001366281.1:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888854",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "T",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213653.4:c.238T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998818.1:p.Cys80Ser",
        "hgvsWellDefined": "NP_998818.1:p.Cys80Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336751.11:c.238T>A"
          },
          "RefSeq": {
            "hgvs": "NM_213653.4:c.238T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337014.5:p.Cys80Ser"
          },
          "RefSeq": {
            "hgvs": "NP_998818.1:p.Cys80Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}