{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149928",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.925G>A (p.Gly309Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103529[alleleid]",
        "alleleId": 103529,
        "preferredName": "NM_000431.4(MVK):c.925G>A (p.Gly309Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97637",
        "RCV": [
          "RCV000083889",
          "RCV001701744"
        ],
        "variationId": 97637
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-110032872-G-A",
        "id": "12-110032872-G-A",
        "variant": "12:110032872 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110032872G>A?assembly=hg19",
        "id": "chr12:g.110032872G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109595067G>A?assembly=hg38",
        "id": "chr12:g.109595067G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895305",
        "rs": 104895305
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110032872-G-A?dataset=gnomad_r2_1",
        "id": "12-110032872-G-A",
        "variant": "12:110032872 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109595067-G-A?dataset=gnomad_r4",
        "id": "12-109595067-G-A",
        "variant": "12:109595067 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 109595067,
          "referenceAllele": "G",
          "start": 109595066
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109595067G>A",
        "CM000674.2:g.109595067G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 110032872,
          "referenceAllele": "G",
          "start": 110032871
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110032872G>A",
        "CM000674.1:g.110032872G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 108517255,
          "referenceAllele": "G",
          "start": 108517254
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108517255G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26373,
          "referenceAllele": "G",
          "start": 26372
        }
      ],
      "hgvs": [
        "NG_007702.1:g.26373G>A",
        "LRG_156:g.26373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.82G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:p.Gly28Ser",
        "hgvsWellDefined": "ENSP00000439134.1:p.Gly28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.Gly309Ser",
        "hgvsWellDefined": "ENSP00000438153.2:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.564G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*689G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.*98G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:n.*98G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2954,
          "referenceAllele": "G",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697197.1:n.2954G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697198.1:n.1309G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Gly309Ser",
        "hgvsWellDefined": "ENSP00000228510.3:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.925G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.925G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Gly309Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Gly309Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.773G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Gly309Ser",
        "hgvsWellDefined": "ENSP00000228510.3:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:p.Gly257Ser",
        "hgvsWellDefined": "ENSP00000376487.3:p.Gly257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.*372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.*372G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*598G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*598G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.Gly309Ser",
        "hgvsWellDefined": "ENSP00000443551.2:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.82G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:p.Gly28Ser",
        "hgvsWellDefined": "ENSP00000439134.1:p.Gly28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3158,
          "referenceAllele": "G",
          "start": 3157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000540353.1:n.3158G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:p.Gly257Ser",
        "hgvsWellDefined": "ENSP00000486846.1:p.Gly257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.*372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.*372G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107269",
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Gly309Ser",
        "hgvsWellDefined": "NP_000422.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976014",
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Gly309Ser",
        "hgvsWellDefined": "NP_001107657.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866545",
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Gly257Ser",
        "hgvsWellDefined": "NP_001288111.1:p.Gly257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.Gly309Ser",
        "hgvsWellDefined": "XP_011536674.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:p.Gly257Ser",
        "hgvsWellDefined": "XP_016874802.1:p.Gly257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Gly309Ser",
        "hgvsWellDefined": "XP_016874803.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107269",
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Gly309Ser",
        "hgvsWellDefined": "NP_000422.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.925G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.925G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Gly309Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Gly309Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976014",
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Gly309Ser",
        "hgvsWellDefined": "NP_001107657.1:p.Gly309Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866545",
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Gly257Ser",
        "hgvsWellDefined": "NP_001288111.1:p.Gly257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}