{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390931092", "communityStandardTitle": [ "NM_003384.3(VRK1):c.637T>C (p.Tyr213His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800787[alleleid]", "alleleId": 800787, "preferredName": "NM_003384.3(VRK1):c.637T>C (p.Tyr213His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812546", "RCV": [ "RCV001003373", "RCV002479197" ], "variationId": 812546 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.97321621T>C?assembly=hg19", "id": "chr14:g.97321621T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.96855284T>C?assembly=hg38", "id": "chr14:g.96855284T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1595676477", "rs": 1595676477 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 96855284, "referenceAllele": "T", "start": 96855283 } ], "hgvs": [ "NC_000014.9:g.96855284T>C", "CM000676.2:g.96855284T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 97321621, "referenceAllele": "T", "start": 97321620 } ], "hgvs": [ "NC_000014.8:g.97321621T>C", "CM000676.1:g.97321621T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 96391374, "referenceAllele": "T", "start": 96391373 } ], "hgvs": [ "NC_000014.7:g.96391374T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "C", "end": 62938, "referenceAllele": "T", "start": 62937 } ], "hgvs": [ "NG_016293.1:g.62938T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003083" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 708, "referenceAllele": "T", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.8:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Tyr213His", "hgvsWellDefined": "ENSP00000216639.3:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS740327", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.637T>C" }, "RefSeq": { "hgvs": "NM_003384.3:c.637T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Tyr213His" }, "RefSeq": { "hgvs": "NP_003375.1:p.Tyr213His" } } } }, { "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000553683.2:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000451412.2:p.Tyr213His", "hgvsWellDefined": "ENSP00000451412.2:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS760067" }, { "coordinates": [ { "allele": "C", "end": 491, "referenceAllele": "T", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557222.6:c.253T>C" ], "proteinEffect": { "hgvs": "ENSP00000450820.2:p.Tyr85His", "hgvsWellDefined": "ENSP00000450820.2:p.Tyr85His" }, "referenceSequence": "http://reg.genome.network/refseq/RS760191" }, { "coordinates": [ { "allele": "C", "end": 702, "referenceAllele": "T", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557352.2:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000451682.2:p.Tyr213His", "hgvsWellDefined": "ENSP00000451682.2:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS760201" }, { "coordinates": [ { "allele": "C", "end": 636, "referenceAllele": "T", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679365.1:c.631T>C" ], "proteinEffect": { "hgvs": "ENSP00000505882.1:p.Tyr211His", "hgvsWellDefined": "ENSP00000505882.1:p.Tyr211His" }, "referenceSequence": "http://reg.genome.network/refseq/RS778998" }, { "coordinates": [ { "allele": "C", "end": 713, "referenceAllele": "T", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679452.1:c.*249T>C" ], "proteinEffect": { "hgvs": "ENSP00000505395.1:n.*249T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779083" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679462.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506011.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506011.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779093" }, { "coordinates": [ { "allele": "C", "end": 2699, "referenceAllele": "T", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679506.1:n.2699T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS779137" }, { "coordinates": [ { "allele": "C", "end": 733, "referenceAllele": "T", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679533.1:c.*410T>C" ], "proteinEffect": { "hgvs": "ENSP00000505873.1:n.*410T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779162" }, { "coordinates": [ { "allele": "C", "end": 637, "referenceAllele": "T", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679650.1:c.*326T>C" ], "proteinEffect": { "hgvs": "ENSP00000505156.1:n.*326T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779278" }, { "coordinates": [ { "allele": "C", "end": 716, "referenceAllele": "T", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679727.1:c.631T>C" ], "proteinEffect": { "hgvs": "ENSP00000505844.1:p.Tyr211His", "hgvsWellDefined": "ENSP00000505844.1:p.Tyr211His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779353" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679736.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506517.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506517.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779361" }, { "coordinates": [ { "allele": "C", "end": 716, "referenceAllele": "T", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679758.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505539.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505539.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779383" }, { "coordinates": [ { "allele": "C", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679770.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505214.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505214.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779395" }, { "coordinates": [ { "allele": "C", "end": 808, "referenceAllele": "T", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679816.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506525.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506525.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779440" }, { "coordinates": [ { "allele": "C", "end": 61, "referenceAllele": "T", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679843.1:c.61T>C" ], "proteinEffect": { "hgvs": "ENSP00000506467.1:p.Tyr21His", "hgvsWellDefined": "ENSP00000506467.1:p.Tyr21His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779465" }, { "coordinates": [ { "allele": "C", "end": 702, "referenceAllele": "T", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679903.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506022.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506022.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779525" }, { "coordinates": [ { "allele": "C", "end": 812, "referenceAllele": "T", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679918.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505439.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505439.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779540" }, { "coordinates": [ { "allele": "C", "end": 693, "referenceAllele": "T", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679941.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506520.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506520.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779563" }, { "coordinates": [ { "allele": "C", "end": 711, "referenceAllele": "T", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679977.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000504897.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000504897.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779599" }, { "coordinates": [ { "allele": "C", "end": 716, "referenceAllele": "T", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680007.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505683.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505683.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779629" }, { "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680084.1:n.743T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS779705" }, { "coordinates": [ { "allele": "C", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680222.1:c.*321T>C" ], "proteinEffect": { "hgvs": "ENSP00000506647.1:n.*321T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779842" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680335.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505806.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505806.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779953" }, { "coordinates": [ { "allele": "C", "end": 637, "referenceAllele": "T", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680339.1:c.*326T>C" ], "proteinEffect": { "hgvs": "ENSP00000506470.1:n.*326T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779957" }, { "coordinates": [ { "allele": "C", "end": 693, "referenceAllele": "T", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680348.1:c.*122T>C" ], "proteinEffect": { "hgvs": "ENSP00000504922.1:n.*122T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS779966" }, { "coordinates": [ { "allele": "C", "end": 751, "referenceAllele": "T", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680384.1:c.*527T>C" ], "proteinEffect": { "hgvs": "ENSP00000506237.1:n.*527T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780002" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680387.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000504908.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000504908.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780005" }, { "coordinates": [ { "allele": "C", "end": 699, "referenceAllele": "T", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680509.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505209.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505209.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780125" }, { "coordinates": [ { "allele": "C", "end": 484, "referenceAllele": "T", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680526.1:c.*227T>C" ], "proteinEffect": { "hgvs": "ENSP00000505595.1:n.*227T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780142" }, { "coordinates": [ { "allele": "C", "end": 776, "referenceAllele": "T", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680538.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505611.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505611.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780154" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680683.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506334.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506334.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780298" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680724.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000504891.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000504891.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780339" }, { "coordinates": [ { "allele": "C", "end": 2083, "referenceAllele": "T", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680756.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506648.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506648.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780371" }, { "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "T", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680849.1:c.634T>C" ], "proteinEffect": { "hgvs": "ENSP00000505602.1:p.Tyr212His", "hgvsWellDefined": "ENSP00000505602.1:p.Tyr212His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780463" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680851.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505159.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505159.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780465" }, { "coordinates": [ { "allele": "C", "end": 703, "referenceAllele": "T", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680922.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506480.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506480.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780536" }, { "coordinates": [ { "allele": "C", "end": 681, "referenceAllele": "T", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680993.1:c.*122T>C" ], "proteinEffect": { "hgvs": "ENSP00000505511.1:n.*122T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780607" }, { "coordinates": [ { "allele": "C", "end": 261, "referenceAllele": "T", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681061.1:c.261T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS780674" }, { "coordinates": [ { "allele": "C", "end": 762, "referenceAllele": "T", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681077.1:c.*271T>C" ], "proteinEffect": { "hgvs": "ENSP00000505642.1:n.*271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780690" }, { "coordinates": [ { "allele": "C", "end": 698, "referenceAllele": "T", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681101.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506564.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506564.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780713" }, { "coordinates": [ { "allele": "C", "end": 578, "referenceAllele": "T", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681176.1:c.511T>C" ], "proteinEffect": { "hgvs": "ENSP00000505454.1:p.Tyr171His", "hgvsWellDefined": "ENSP00000505454.1:p.Tyr171His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780788" }, { "coordinates": [ { "allele": "C", "end": 745, "referenceAllele": "T", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681195.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000504933.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000504933.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780806" }, { "coordinates": [ { "allele": "C", "end": 1600, "referenceAllele": "T", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681249.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506013.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506013.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780860" }, { "coordinates": [ { "allele": "C", "end": 1008, "referenceAllele": "T", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681344.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506151.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506151.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780954" }, { "coordinates": [ { "allele": "C", "end": 857, "referenceAllele": "T", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681355.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506214.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506214.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780965" }, { "coordinates": [ { "allele": "C", "end": 708, "referenceAllele": "T", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681363.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505564.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505564.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780973" }, { "coordinates": [ { "allele": "C", "end": 698, "referenceAllele": "T", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681419.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505512.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505512.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781026" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681474.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505569.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505569.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781081" }, { "coordinates": [ { "allele": "C", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681493.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506429.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506429.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781099" }, { "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681524.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505783.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505783.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781130" }, { "coordinates": [ { "allele": "C", "end": 708, "referenceAllele": "T", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681538.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506662.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506662.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781144" }, { "coordinates": [ { "allele": "C", "end": 579, "referenceAllele": "T", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681598.1:c.*227T>C" ], "proteinEffect": { "hgvs": "ENSP00000506128.1:n.*227T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS781204" }, { "coordinates": [ { "allele": "C", "end": 261, "referenceAllele": "T", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681677.1:c.261T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS781282" }, { "coordinates": [ { "allele": "C", "end": 504, "referenceAllele": "T", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681695.1:c.*227T>C" ], "proteinEffect": { "hgvs": "ENSP00000506225.1:n.*227T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS781299" }, { "coordinates": [ { "allele": "C", "end": 678, "referenceAllele": "T", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681778.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000506049.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000506049.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781381" }, { "coordinates": [ { "allele": "C", "end": 944, "referenceAllele": "T", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681785.1:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000505166.1:p.Tyr213His", "hgvsWellDefined": "ENSP00000505166.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781388" }, { "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.7:c.637T>C" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Tyr213His", "hgvsWellDefined": "ENSP00000216639.3:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS248034" }, { "coordinates": [ { "allele": "C", "end": 206, "referenceAllele": "T", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557222.5:c.206T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS372847" }, { "@id": "http://reg.genome.network/allele/PA915987773", "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.2:c.637T>C" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Tyr213His", "hgvsWellDefined": "NP_003375.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028631" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.2:c.637T>C" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Tyr213His", "hgvsWellDefined": "XP_006720310.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS073571" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_011537132.1:c.637T>C" ], "proteinEffect": { "hgvs": "XP_011535434.1:p.Tyr213His", "hgvsWellDefined": "XP_011535434.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS104102" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.4:c.637T>C" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Tyr213His", "hgvsWellDefined": "XP_006720310.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540052" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021624.2:c.637T>C" ], "proteinEffect": { "hgvs": "XP_016877113.1:p.Tyr213His", "hgvsWellDefined": "XP_016877113.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS572774" }, { "coordinates": [ { "allele": "C", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021625.1:c.643T>C" ], "proteinEffect": { "hgvs": "XP_016877114.1:p.Tyr215His", "hgvsWellDefined": "XP_016877114.1:p.Tyr215His" }, "referenceSequence": "http://reg.genome.network/refseq/RS572775" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021626.2:c.637T>C" ], "proteinEffect": { "hgvs": "XP_016877115.1:p.Tyr213His", "hgvsWellDefined": "XP_016877115.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS572776" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XR_001750539.2:n.705T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597768" }, { "@id": "http://reg.genome.network/allele/PA915987773", "coordinates": [ { "allele": "C", "end": 708, "referenceAllele": "T", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.3:c.637T>C" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Tyr213His", "hgvsWellDefined": "NP_003375.1:p.Tyr213His" }, "referenceSequence": "http://reg.genome.network/refseq/RS666018", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.637T>C" }, "RefSeq": { "hgvs": "NM_003384.3:c.637T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Tyr213His" }, "RefSeq": { "hgvs": "NP_003375.1:p.Tyr213His" } } } } ], "type": "nucleotide" }