{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2614878", "communityStandardTitle": [ "NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4507109" }, { "active": false, "id": "COSM4507110" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=887981[alleleid]", "alleleId": 887981, "preferredName": "NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/899637", "RCV": [ "RCV001144318", "RCV003769693" ], "variationId": 899637 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-130672768-C-T", "id": "3-130672768-C-T", "variant": "3:130672768 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.130672768C>T?assembly=hg19", "id": "chr3:g.130672768C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.130953924C>T?assembly=hg38", "id": "chr3:g.130953924C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200427297", "rs": 200427297 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-130672768-C-T?dataset=gnomad_r2_1", "id": "3-130672768-C-T", "variant": "3:130672768 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-130953924-C-T?dataset=gnomad_r3", "id": "3-130953924-C-T", "variant": "3:130953924 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-130953924-C-T?dataset=gnomad_r4", "id": "3-130953924-C-T", "variant": "3:130953924 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 130953924, "referenceAllele": "C", "start": 130953923 } ], "hgvs": [ "NC_000003.12:g.130953924C>T", "CM000665.2:g.130953924C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 130672768, "referenceAllele": "C", "start": 130672767 } ], "hgvs": [ "NC_000003.11:g.130672768C>T", "CM000665.1:g.130672768C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 132155458, "referenceAllele": "C", "start": 132155457 } ], "hgvs": [ "NC_000003.10:g.132155458C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 64335, "referenceAllele": "C", "start": 64334 } ], "hgvs": [ "NG_007379.1:g.64335C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000554" }, { "coordinates": [ { "allele": "T", "end": 108400, "referenceAllele": "C", "start": 108399 } ], "hgvs": [ "NG_007379.2:g.108400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616074" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000510168.6:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000427461.1:p.Ser212Leu", "hgvsWellDefined": "ENSP00000427461.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS758205", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000510168.6:c.635C>T" }, "RefSeq": { "hgvs": "NM_001378687.1:c.635C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000427461.1:p.Ser212Leu" }, "RefSeq": { "hgvs": "NP_001365616.1:p.Ser212Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000328560.12:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000329664.8:p.Ser212Leu", "hgvsWellDefined": "ENSP00000329664.8:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS258934" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000359644.7:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000352665.3:p.Ser212Leu", "hgvsWellDefined": "ENSP00000352665.3:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS264856" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000422190.6:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000402677.2:p.Ser212Leu", "hgvsWellDefined": "ENSP00000402677.2:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287155" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000428331.6:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000395809.2:p.Ser212Leu", "hgvsWellDefined": "ENSP00000395809.2:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290146" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504381.5:c.620C>T" ], "proteinEffect": { "hgvs": "ENSP00000425320.2:p.Ser207Leu", "hgvsWellDefined": "ENSP00000425320.2:p.Ser207Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS336456" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504612.5:c.496C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS336624" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504948.5:c.587C>T" ], "proteinEffect": { "hgvs": "ENSP00000423330.1:p.Ser196Leu", "hgvsWellDefined": "ENSP00000423330.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS336864" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000505330.5:c.737C>T" ], "proteinEffect": { "hgvs": "ENSP00000423774.2:p.Ser246Leu", "hgvsWellDefined": "ENSP00000423774.2:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS337151" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000507488.6:c.737C>T" ], "proteinEffect": { "hgvs": "ENSP00000421326.3:p.Ser246Leu", "hgvsWellDefined": "ENSP00000421326.3:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS338762" }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000508532.5:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000424783.1:p.Ser212Leu", "hgvsWellDefined": "ENSP00000424783.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS339532" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000510168.5:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000427461.1:p.Ser212Leu", "hgvsWellDefined": "ENSP00000427461.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS340754" }, { "coordinates": [ { "allele": "T", "end": 86, "referenceAllele": "C", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000513636.1:n.86C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343331" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000513801.5:c.587C>T" ], "proteinEffect": { "hgvs": "ENSP00000422872.1:p.Ser196Leu", "hgvsWellDefined": "ENSP00000422872.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS343450" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000533801.6:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000432956.3:p.Ser212Leu", "hgvsWellDefined": "ENSP00000432956.3:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS358517" }, { "@id": "http://reg.genome.network/allele/PA2825226671", "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001485.2:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001485.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001485.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS007066" }, { "@id": "http://reg.genome.network/allele/PA2825226846", "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001486.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001486.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001486.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS007067" }, { "@id": "http://reg.genome.network/allele/PA2825227154", "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001487.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001487.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001487.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS007068" }, { "@id": "http://reg.genome.network/allele/PA2826235988", "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Ser212Leu", "hgvsWellDefined": "NP_001186108.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017017" }, { "@id": "http://reg.genome.network/allele/PA2826236064", "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199180.1:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001186109.1:p.Ser246Leu", "hgvsWellDefined": "NP_001186109.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017018" }, { "@id": "http://reg.genome.network/allele/PA2826236143", "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.1:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Ser246Leu", "hgvsWellDefined": "NP_001186110.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017019" }, { "@id": "http://reg.genome.network/allele/PA2826236211", "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199182.1:c.620C>T" ], "proteinEffect": { "hgvs": "NP_001186111.1:p.Ser207Leu", "hgvsWellDefined": "NP_001186111.1:p.Ser207Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017020" }, { "@id": "http://reg.genome.network/allele/PA2826236287", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199183.1:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001186112.1:p.Ser196Leu", "hgvsWellDefined": "NP_001186112.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017021" }, { "@id": "http://reg.genome.network/allele/PA2826236363", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.1:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Ser196Leu", "hgvsWellDefined": "NP_001186113.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017022" }, { "@id": "http://reg.genome.network/allele/PA2826236441", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199185.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001186114.1:p.Ser212Leu", "hgvsWellDefined": "NP_001186114.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017023" }, { "@id": "http://reg.genome.network/allele/PA2829738783", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.3:c.635C>T" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Ser212Leu", "hgvsWellDefined": "NP_055197.2:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS033133" }, { "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247354.1:c.737C>T" ], "proteinEffect": { "hgvs": "XP_005247411.1:p.Ser246Leu", "hgvsWellDefined": "XP_005247411.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058010" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247355.1:c.635C>T" ], "proteinEffect": { "hgvs": "XP_005247412.1:p.Ser212Leu", "hgvsWellDefined": "XP_005247412.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058011" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247356.1:c.635C>T" ], "proteinEffect": { "hgvs": "XP_005247413.1:p.Ser212Leu", "hgvsWellDefined": "XP_005247413.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058012" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247357.1:c.635C>T" ], "proteinEffect": { "hgvs": "XP_005247414.1:p.Ser212Leu", "hgvsWellDefined": "XP_005247414.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058013" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247358.1:c.587C>T" ], "proteinEffect": { "hgvs": "XP_005247415.1:p.Ser196Leu", "hgvsWellDefined": "XP_005247415.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058014" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_006713585.1:c.635C>T" ], "proteinEffect": { "hgvs": "XP_006713648.1:p.Ser212Leu", "hgvsWellDefined": "XP_006713648.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS070248" }, { "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512685.1:c.737C>T" ], "proteinEffect": { "hgvs": "XP_011510987.1:p.Ser246Leu", "hgvsWellDefined": "XP_011510987.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS079941" }, { "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512687.1:c.737C>T" ], "proteinEffect": { "hgvs": "XP_011510989.1:p.Ser246Leu", "hgvsWellDefined": "XP_011510989.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS079943" }, { "coordinates": [ { "allele": "T", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247354.2:c.737C>T" ], "proteinEffect": { "hgvs": "XP_005247411.1:p.Ser246Leu", "hgvsWellDefined": "XP_005247411.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS532810" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247355.2:c.635C>T" ], "proteinEffect": { "hgvs": "XP_005247412.1:p.Ser212Leu", "hgvsWellDefined": "XP_005247412.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS532811" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247356.3:c.635C>T" ], "proteinEffect": { "hgvs": "XP_005247413.1:p.Ser212Leu", "hgvsWellDefined": "XP_005247413.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS532812" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247358.3:c.587C>T" ], "proteinEffect": { "hgvs": "XP_005247415.1:p.Ser196Leu", "hgvsWellDefined": "XP_005247415.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS532813" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_017006164.2:c.635C>T" ], "proteinEffect": { "hgvs": "XP_016861653.1:p.Ser212Leu", "hgvsWellDefined": "XP_016861653.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS561258" }, { "@id": "http://reg.genome.network/allele/PA2826235988", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.2:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Ser212Leu", "hgvsWellDefined": "NP_001186108.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679513" }, { "@id": "http://reg.genome.network/allele/PA2826236064", "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199180.2:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001186109.1:p.Ser246Leu", "hgvsWellDefined": "NP_001186109.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679514" }, { "@id": "http://reg.genome.network/allele/PA2826236143", "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.2:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Ser246Leu", "hgvsWellDefined": "NP_001186110.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679515" }, { "@id": "http://reg.genome.network/allele/PA2826236211", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199182.2:c.620C>T" ], "proteinEffect": { "hgvs": "NP_001186111.1:p.Ser207Leu", "hgvsWellDefined": "NP_001186111.1:p.Ser207Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679516" }, { "@id": "http://reg.genome.network/allele/PA2826236287", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199183.2:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001186112.1:p.Ser196Leu", "hgvsWellDefined": "NP_001186112.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679517" }, { "@id": "http://reg.genome.network/allele/PA2826236363", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.2:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Ser196Leu", "hgvsWellDefined": "NP_001186113.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679518" }, { "@id": "http://reg.genome.network/allele/PA2826236441", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199185.2:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001186114.1:p.Ser212Leu", "hgvsWellDefined": "NP_001186114.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679519" }, { "@id": "http://reg.genome.network/allele/PA2829738783", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.4:c.635C>T" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Ser212Leu", "hgvsWellDefined": "NP_055197.2:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS697246" }, { "@id": "http://reg.genome.network/allele/PA2825226671", "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001485.3:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001485.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001485.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS710915" }, { "@id": "http://reg.genome.network/allele/PA2825226846", "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001486.2:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001486.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001486.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS710916" }, { "@id": "http://reg.genome.network/allele/PA2825227154", "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001487.2:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001001487.1:p.Ser212Leu", "hgvsWellDefined": "NP_001001487.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS710917" }, { "@id": "http://reg.genome.network/allele/PA2826235988", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.3:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Ser212Leu", "hgvsWellDefined": "NP_001186108.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713953" }, { "@id": "http://reg.genome.network/allele/PA2826236143", "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.3:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Ser246Leu", "hgvsWellDefined": "NP_001186110.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713954" }, { "@id": "http://reg.genome.network/allele/PA2826236363", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.3:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Ser196Leu", "hgvsWellDefined": "NP_001186113.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713955" }, { "@id": "http://reg.genome.network/allele/PA1139744791", "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378511.1:c.737C>T" ], "proteinEffect": { "hgvs": "NP_001365440.1:p.Ser246Leu", "hgvsWellDefined": "NP_001365440.1:p.Ser246Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721740" }, { "@id": "http://reg.genome.network/allele/PA2828783006", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378512.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001365441.1:p.Ser212Leu", "hgvsWellDefined": "NP_001365441.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721741" }, { "@id": "http://reg.genome.network/allele/PA2828783087", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378513.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001365442.1:p.Ser212Leu", "hgvsWellDefined": "NP_001365442.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721742" }, { "@id": "http://reg.genome.network/allele/PA2828783162", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378514.1:c.587C>T" ], "proteinEffect": { "hgvs": "NP_001365443.1:p.Ser196Leu", "hgvsWellDefined": "NP_001365443.1:p.Ser196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721743" }, { "@id": "http://reg.genome.network/allele/PA2828796087", "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378687.1:c.635C>T" ], "proteinEffect": { "hgvs": "NP_001365616.1:p.Ser212Leu", "hgvsWellDefined": "NP_001365616.1:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721818", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000510168.6:c.635C>T" }, "RefSeq": { "hgvs": "NM_001378687.1:c.635C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000427461.1:p.Ser212Leu" }, "RefSeq": { "hgvs": "NP_001365616.1:p.Ser212Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2829738783", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.5:c.635C>T" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Ser212Leu", "hgvsWellDefined": "NP_055197.2:p.Ser212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727959" } ], "type": "nucleotide" }