{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1653267",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=697589[alleleid]",
        "alleleId": 697589,
        "preferredName": "NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/775713",
        "RCV": [
          "RCV000955920",
          "RCV003983302"
        ],
        "variationId": 775713
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-48941162-G-T",
        "id": "2-48941162-G-T",
        "variant": "2:48941162 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48941162G>T?assembly=hg19",
        "id": "chr2:g.48941162G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48714023G>T?assembly=hg38",
        "id": "chr2:g.48714023G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61996318",
        "rs": 61996318
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48941162-G-T?dataset=gnomad_r2_1",
        "id": "2-48941162-G-T",
        "variant": "2:48941162 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48714023-G-T?dataset=gnomad_r3",
        "id": "2-48714023-G-T",
        "variant": "2:48714023 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48714023-G-T?dataset=gnomad_r4",
        "id": "2-48714023-G-T",
        "variant": "2:48714023 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48714023,
          "referenceAllele": "G",
          "start": 48714022
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48714023G>T",
        "CM000664.2:g.48714023G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48941162,
          "referenceAllele": "G",
          "start": 48941161
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48941162G>T",
        "CM000664.1:g.48941162G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48794666,
          "referenceAllele": "G",
          "start": 48794665
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48794666G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46719,
          "referenceAllele": "C",
          "start": 46718
        }
      ],
      "hgvs": [
        "NG_008193.1:g.46719C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189099,
          "referenceAllele": "G",
          "start": 189098
        }
      ],
      "hgvs": [
        "NG_033050.1:g.189099G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46719,
          "referenceAllele": "C",
          "start": 46718
        }
      ],
      "hgvs": [
        "NG_008193.2:g.46719C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189099,
          "referenceAllele": "G",
          "start": 189098
        }
      ],
      "hgvs": [
        "NG_033050.2:g.189099G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Gln190Lys",
        "hgvsWellDefined": "ENSP00000294954.6:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.568C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.568C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Gln190Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Gln190Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Gln190Lys",
        "hgvsWellDefined": "ENSP00000294954.6:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:p.Gln190Lys",
        "hgvsWellDefined": "ENSP00000385406.1:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 42343,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 42342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+42343G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+42343G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:p.Gln190Lys",
        "hgvsWellDefined": "ENSP00000385847.1:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Gln190Lys",
        "hgvsWellDefined": "ENSP00000386033.1:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000477576.1:n.91C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 18869,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 18870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.277-18870G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.277-18870G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.493C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:p.Gln165Lys",
        "hgvsWellDefined": "ENSP00000473498.1:p.Gln165Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966383",
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Gln190Lys",
        "hgvsWellDefined": "NP_000224.2:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 42343,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 42342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+42343G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+42343G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.493C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Gln165Lys",
        "hgvsWellDefined": "XP_011531130.1:p.Gln165Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.493C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Gln165Lys",
        "hgvsWellDefined": "XP_011531131.1:p.Gln165Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.493C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Gln165Lys",
        "hgvsWellDefined": "XP_011531132.1:p.Gln165Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.-69C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:n.-69C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Gln167Lys",
        "hgvsWellDefined": "XP_016859578.1:p.Gln167Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966383",
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Gln190Lys",
        "hgvsWellDefined": "NP_000224.2:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.568C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.568C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Gln190Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Gln190Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 42343,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 42342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+42343G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+42343G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}