{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7339046", "communityStandardTitle": [ "NM_003384.3(VRK1):c.683C>T (p.Thr228Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=642975[alleleid]", "alleleId": 642975, "preferredName": "NM_003384.3(VRK1):c.683C>T (p.Thr228Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/651537", "RCV": [ "RCV001830759", "RCV001374508", "RCV003226397", "RCV004028265" ], "variationId": 651537 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-97321667-C-T", "id": "14-97321667-C-T", "variant": "14:97321667 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.97321667C>T?assembly=hg19", "id": "chr14:g.97321667C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.96855330C>T?assembly=hg38", "id": "chr14:g.96855330C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/146113610", "rs": 146113610 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-97321667-C-T?dataset=gnomad_r2_1", "id": "14-97321667-C-T", "variant": "14:97321667 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-96855330-C-T?dataset=gnomad_r3", "id": "14-96855330-C-T", "variant": "14:96855330 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-96855330-C-T?dataset=gnomad_r4", "id": "14-96855330-C-T", "variant": "14:96855330 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 96855330, "referenceAllele": "C", "start": 96855329 } ], "hgvs": [ "NC_000014.9:g.96855330C>T", "CM000676.2:g.96855330C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 97321667, "referenceAllele": "C", "start": 97321666 } ], "hgvs": [ "NC_000014.8:g.97321667C>T", "CM000676.1:g.97321667C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 96391420, "referenceAllele": "C", "start": 96391419 } ], "hgvs": [ "NC_000014.7:g.96391420C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 62984, "referenceAllele": "C", "start": 62983 } ], "hgvs": [ "NG_016293.1:g.62984C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003083" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.8:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Thr228Met", "hgvsWellDefined": "ENSP00000216639.3:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS740327", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.683C>T" }, "RefSeq": { "hgvs": "NM_003384.3:c.683C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Thr228Met" }, "RefSeq": { "hgvs": "NP_003375.1:p.Thr228Met" } } } }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000553683.2:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000451412.2:p.Thr228Met", "hgvsWellDefined": "ENSP00000451412.2:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS760067" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557222.6:c.299C>T" ], "proteinEffect": { "hgvs": "ENSP00000450820.2:p.Thr100Met", "hgvsWellDefined": "ENSP00000450820.2:p.Thr100Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS760191" }, { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557352.2:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000451682.2:p.Thr228Met", "hgvsWellDefined": "ENSP00000451682.2:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS760201" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679365.1:c.677C>T" ], "proteinEffect": { "hgvs": "ENSP00000505882.1:p.Thr226Met", "hgvsWellDefined": "ENSP00000505882.1:p.Thr226Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS778998" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679452.1:c.*295C>T" ], "proteinEffect": { "hgvs": "ENSP00000505395.1:n.*295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779083" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679462.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506011.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506011.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779093" }, { "coordinates": [ { "allele": "T", "end": 2745, "referenceAllele": "C", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679506.1:n.2745C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779137" }, { "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "C", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679533.1:c.*456C>T" ], "proteinEffect": { "hgvs": "ENSP00000505873.1:n.*456C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779162" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679650.1:c.*372C>T" ], "proteinEffect": { "hgvs": "ENSP00000505156.1:n.*372C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779278" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679727.1:c.677C>T" ], "proteinEffect": { "hgvs": "ENSP00000505844.1:p.Thr226Met", "hgvsWellDefined": "ENSP00000505844.1:p.Thr226Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779353" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679736.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506517.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506517.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779361" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679758.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505539.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505539.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779383" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679770.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505214.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505214.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779395" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679816.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506525.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506525.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779440" }, { "coordinates": [ { "allele": "T", "end": 107, "referenceAllele": "C", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679843.1:c.107C>T" ], "proteinEffect": { "hgvs": "ENSP00000506467.1:p.Thr36Met", "hgvsWellDefined": "ENSP00000506467.1:p.Thr36Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779465" }, { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679903.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506022.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506022.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779525" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679918.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505439.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505439.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779540" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679941.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506520.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506520.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779563" }, { "coordinates": [ { "allele": "T", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679977.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000504897.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000504897.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779599" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680007.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505683.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505683.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779629" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680084.1:n.789C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779705" }, { "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680222.1:c.*367C>T" ], "proteinEffect": { "hgvs": "ENSP00000506647.1:n.*367C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779842" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680335.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505806.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505806.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS779953" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680339.1:c.*372C>T" ], "proteinEffect": { "hgvs": "ENSP00000506470.1:n.*372C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779957" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680348.1:c.*168C>T" ], "proteinEffect": { "hgvs": "ENSP00000504922.1:n.*168C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779966" }, { "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680384.1:c.*573C>T" ], "proteinEffect": { "hgvs": "ENSP00000506237.1:n.*573C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780002" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680387.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000504908.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000504908.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780005" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680509.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505209.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505209.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780125" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680526.1:c.*273C>T" ], "proteinEffect": { "hgvs": "ENSP00000505595.1:n.*273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780142" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680538.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505611.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505611.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780154" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680683.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506334.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506334.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780298" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680724.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000504891.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000504891.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780339" }, { "coordinates": [ { "allele": "T", "end": 2129, "referenceAllele": "C", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680756.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506648.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506648.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780371" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680849.1:c.680C>T" ], "proteinEffect": { "hgvs": "ENSP00000505602.1:p.Thr227Met", "hgvsWellDefined": "ENSP00000505602.1:p.Thr227Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780463" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680851.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505159.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505159.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780465" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680922.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506480.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506480.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780536" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680993.1:c.*168C>T" ], "proteinEffect": { "hgvs": "ENSP00000505511.1:n.*168C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780607" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681061.1:c.307C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780674" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681077.1:c.*317C>T" ], "proteinEffect": { "hgvs": "ENSP00000505642.1:n.*317C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780690" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681101.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506564.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506564.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780713" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681176.1:c.557C>T" ], "proteinEffect": { "hgvs": "ENSP00000505454.1:p.Thr186Met", "hgvsWellDefined": "ENSP00000505454.1:p.Thr186Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780788" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681195.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000504933.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000504933.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780806" }, { "coordinates": [ { "allele": "T", "end": 1646, "referenceAllele": "C", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681249.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506013.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506013.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780860" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681344.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506151.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506151.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780954" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681355.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506214.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506214.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780965" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681363.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505564.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505564.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780973" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681419.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505512.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505512.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781026" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681474.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505569.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505569.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781081" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681493.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506429.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506429.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781099" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681524.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505783.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505783.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781130" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681538.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506662.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506662.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781144" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681598.1:c.*273C>T" ], "proteinEffect": { "hgvs": "ENSP00000506128.1:n.*273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781204" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681677.1:c.307C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781282" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681695.1:c.*273C>T" ], "proteinEffect": { "hgvs": "ENSP00000506225.1:n.*273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781299" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681778.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000506049.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000506049.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781381" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681785.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000505166.1:p.Thr228Met", "hgvsWellDefined": "ENSP00000505166.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781388" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.7:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Thr228Met", "hgvsWellDefined": "ENSP00000216639.3:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS248034" }, { "coordinates": [ { "allele": "T", "end": 252, "referenceAllele": "C", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557222.5:c.252C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372847" }, { "coordinates": [ { "allele": "T", "end": 27, "referenceAllele": "C", "start": 26 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557352.1:c.27C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372954" }, { "@id": "http://reg.genome.network/allele/PA915987781", "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Thr228Met", "hgvsWellDefined": "NP_003375.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS028631" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.2:c.683C>T" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Thr228Met", "hgvsWellDefined": "XP_006720310.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS073571" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_011537132.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011535434.1:p.Thr228Met", "hgvsWellDefined": "XP_011535434.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS104102" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.4:c.683C>T" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Thr228Met", "hgvsWellDefined": "XP_006720310.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS540052" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021624.2:c.683C>T" ], "proteinEffect": { "hgvs": "XP_016877113.1:p.Thr228Met", "hgvsWellDefined": "XP_016877113.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS572774" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021625.1:c.689C>T" ], "proteinEffect": { "hgvs": "XP_016877114.1:p.Thr230Met", "hgvsWellDefined": "XP_016877114.1:p.Thr230Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS572775" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021626.2:c.683C>T" ], "proteinEffect": { "hgvs": "XP_016877115.1:p.Thr228Met", "hgvsWellDefined": "XP_016877115.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS572776" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XR_001750539.2:n.751C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597768" }, { "@id": "http://reg.genome.network/allele/PA915987781", "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.3:c.683C>T" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Thr228Met", "hgvsWellDefined": "NP_003375.1:p.Thr228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS666018", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.683C>T" }, "RefSeq": { "hgvs": "NM_003384.3:c.683C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Thr228Met" }, "RefSeq": { "hgvs": "NP_003375.1:p.Thr228Met" } } } } ], "type": "nucleotide" }