{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123933",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29446[alleleid]",
        "alleleId": 29446,
        "preferredName": "NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14407",
        "RCV": [
          "RCV000015488"
        ],
        "variationId": 14407
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48915233G>A?assembly=hg19",
        "id": "chr2:g.48915233G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48688094G>A?assembly=hg38",
        "id": "chr2:g.48688094G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912534",
        "rs": 121912534
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48688094,
          "referenceAllele": "G",
          "start": 48688093
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48688094G>A",
        "CM000664.2:g.48688094G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48915233,
          "referenceAllele": "G",
          "start": 48915232
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48915233G>A",
        "CM000664.1:g.48915233G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48768737,
          "referenceAllele": "G",
          "start": 48768736
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48768737G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72648,
          "referenceAllele": "C",
          "start": 72647
        }
      ],
      "hgvs": [
        "NG_008193.1:g.72648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163170,
          "referenceAllele": "G",
          "start": 163169
        }
      ],
      "hgvs": [
        "NG_033050.1:g.163170G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72648,
          "referenceAllele": "C",
          "start": 72647
        }
      ],
      "hgvs": [
        "NG_008193.2:g.72648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163170,
          "referenceAllele": "G",
          "start": 163169
        }
      ],
      "hgvs": [
        "NG_033050.2:g.163170G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.1703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Ala568Val",
        "hgvsWellDefined": "ENSP00000294954.6:p.Ala568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1703C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1703C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Ala568Val"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Ala568Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.1703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Ala568Val",
        "hgvsWellDefined": "ENSP00000294954.6:p.Ala568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.*15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:n.*15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16414,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+16414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+16414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.*447C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:n.*447C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.1622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Ala541Val",
        "hgvsWellDefined": "ENSP00000386033.1:p.Ala541Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 16414,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 16413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.276+16414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.276+16414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 6130,
          "referenceAllele": "C",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 6129
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.*220+6130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:n.*220+6130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112895",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.1703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Ala568Val",
        "hgvsWellDefined": "NP_000224.2:p.Ala568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16414,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+16414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.2:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Ala249Val",
        "hgvsWellDefined": "XP_005264366.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.2:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Ala258Val",
        "hgvsWellDefined": "XP_006712078.1:p.Ala258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.1628C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Ala543Val",
        "hgvsWellDefined": "XP_011531130.1:p.Ala543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.1442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Ala481Val",
        "hgvsWellDefined": "XP_011531131.1:p.Ala481Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.1361C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Ala454Val",
        "hgvsWellDefined": "XP_011531132.1:p.Ala454Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.1067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:p.Ala356Val",
        "hgvsWellDefined": "XP_011531133.1:p.Ala356Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532832.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531134.1:p.Ala258Val",
        "hgvsWellDefined": "XP_011531134.1:p.Ala258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532833.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531135.1:p.Ala258Val",
        "hgvsWellDefined": "XP_011531135.1:p.Ala258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.1:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Ala249Val",
        "hgvsWellDefined": "XP_011531136.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.3:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Ala249Val",
        "hgvsWellDefined": "XP_005264366.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "referenceAllele": "C",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.3:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Ala258Val",
        "hgvsWellDefined": "XP_006712078.1:p.Ala258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.2:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Ala249Val",
        "hgvsWellDefined": "XP_011531136.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3275,
          "referenceAllele": "C",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.1448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Ala483Val",
        "hgvsWellDefined": "XP_016859578.1:p.Ala483Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004090.1:c.1067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859579.1:p.Ala356Val",
        "hgvsWellDefined": "XP_016859579.1:p.Ala356Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112895",
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.1703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Ala568Val",
        "hgvsWellDefined": "NP_000224.2:p.Ala568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1703C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1703C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Ala568Val"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Ala568Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16414,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+16414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}