{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388021882", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1151108[alleleid]", "alleleId": 1151108, "preferredName": "NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1162230", "RCV": [ "RCV001507004" ], "variationId": 1162230 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52511695C>T?assembly=hg19", "id": "chr13:g.52511695C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51937559C>T?assembly=hg38", "id": "chr13:g.51937559C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2138578550", "rs": 2138578550 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-51937559-C-T?dataset=gnomad_r4", "id": "13-51937559-C-T", "variant": "13:51937559 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 51937559, "referenceAllele": "C", "start": 51937558 } ], "hgvs": [ "NC_000013.11:g.51937559C>T", "CM000675.2:g.51937559C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 52511695, "referenceAllele": "C", "start": 52511694 } ], "hgvs": [ "NC_000013.10:g.52511695C>T", "CM000675.1:g.52511695C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 51409696, "referenceAllele": "C", "start": 51409695 } ], "hgvs": [ "NC_000013.9:g.51409696C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 78936, "referenceAllele": "G", "start": 78935 } ], "hgvs": [ "NG_008806.1:g.78936G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3575, "referenceAllele": "G", "start": 3574 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.*1470G>A" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:n.*1470G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "A", "end": 4357, "referenceAllele": "G", "start": 4356 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.*2564G>A" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:n.*2564G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "A", "end": 3312, "referenceAllele": "G", "start": 3311 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.3199G>A" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Ala1067Thr", "hgvsWellDefined": "ENSP00000500964.2:p.Ala1067Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "A", "end": 3933, "referenceAllele": "G", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.3820G>A" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Ala1274Thr", "hgvsWellDefined": "ENSP00000242839.5:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.3820G>A" }, "RefSeq": { "hgvs": "NM_000053.4:c.3820G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Ala1274Thr" }, "RefSeq": { "hgvs": "NP_000044.2:p.Ala1274Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3356, "referenceAllele": "G", "start": 3355 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.3199G>A" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Ala1067Thr", "hgvsWellDefined": "ENSP00000342559.5:p.Ala1067Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "A", "end": 3487, "referenceAllele": "G", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.3487G>A" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Ala1163Thr", "hgvsWellDefined": "ENSP00000383217.3:p.Ala1163Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "A", "end": 3821, "referenceAllele": "G", "start": 3820 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.3568G>A" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Ala1190Thr", "hgvsWellDefined": "ENSP00000416738.3:p.Ala1190Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673696.1:n.1061G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773796" }, { "coordinates": [ { "allele": "A", "end": 3660, "referenceAllele": "G", "start": 3659 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.3586G>A" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Ala1196Thr", "hgvsWellDefined": "ENSP00000501168.1:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "A", "end": 3959, "referenceAllele": "G", "start": 3958 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673867.1:n.3959G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773928" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673923.1:n.686G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773978" }, { "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "G", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.2755G>A" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Ala919Thr", "hgvsWellDefined": "ENSP00000500964.1:p.Ala919Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "A", "end": 3977, "referenceAllele": "G", "start": 3976 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.3820G>A" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Ala1274Thr", "hgvsWellDefined": "ENSP00000242839.4:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "A", "end": 3201, "referenceAllele": "G", "start": 3200 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.3199G>A" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Ala1067Thr", "hgvsWellDefined": "ENSP00000342559.5:p.Ala1067Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.3487G>A" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Ala1163Thr", "hgvsWellDefined": "ENSP00000383217.3:p.Ala1163Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "A", "end": 2604, "referenceAllele": "G", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.2530G>A" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Ala844Thr", "hgvsWellDefined": "ENSP00000383221.3:p.Ala844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "A", "end": 3699, "referenceAllele": "G", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Ala1209Thr", "hgvsWellDefined": "ENSP00000393343.2:p.Ala1209Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "A", "end": 3743, "referenceAllele": "G", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.3586G>A" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Ala1196Thr", "hgvsWellDefined": "ENSP00000416738.2:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.1:c.1598G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407767" }, { "coordinates": [ { "allele": "A", "end": 3678, "referenceAllele": "G", "start": 3677 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.*921G>A" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:n.*921G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "A", "end": 4564, "referenceAllele": "G", "start": 4563 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634620.1:n.4564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407886" }, { "coordinates": [ { "allele": "A", "end": 3165, "referenceAllele": "G", "start": 3164 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634810.1:n.3165G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407945" }, { "coordinates": [ { "allele": "A", "end": 3750, "referenceAllele": "G", "start": 3749 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.3676G>A" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Ala1226Thr", "hgvsWellDefined": "ENSP00000489398.1:p.Ala1226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "@id": "http://reg.genome.network/allele/PA2499227097", "coordinates": [ { "allele": "A", "end": 3977, "referenceAllele": "G", "start": 3976 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.3820G>A" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Ala1274Thr", "hgvsWellDefined": "NP_000044.2:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825280148", "coordinates": [ { "allele": "A", "end": 3356, "referenceAllele": "G", "start": 3355 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.3199G>A" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Ala1067Thr", "hgvsWellDefined": "NP_001005918.1:p.Ala1067Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "@id": "http://reg.genome.network/allele/PA2826318464", "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.3487G>A" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Ala1163Thr", "hgvsWellDefined": "NP_001230111.1:p.Ala1163Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "A", "end": 3882, "referenceAllele": "G", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Ala1242Thr", "hgvsWellDefined": "XP_005266480.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "A", "end": 3974, "referenceAllele": "G", "start": 3973 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Ala1242Thr", "hgvsWellDefined": "XP_005266481.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "A", "end": 3805, "referenceAllele": "G", "start": 3804 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.3586G>A" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Ala1196Thr", "hgvsWellDefined": "XP_005266484.1:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "A", "end": 3787, "referenceAllele": "G", "start": 3786 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.3568G>A" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Ala1190Thr", "hgvsWellDefined": "XP_005266485.1:p.Ala1190Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "A", "end": 3954, "referenceAllele": "G", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.3820G>A" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Ala1274Thr", "hgvsWellDefined": "XP_005266487.1:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "A", "end": 3799, "referenceAllele": "G", "start": 3798 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.3784G>A" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Ala1262Thr", "hgvsWellDefined": "XP_005266488.1:p.Ala1262Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "A", "end": 3553, "referenceAllele": "G", "start": 3552 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.3334G>A" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Ala1112Thr", "hgvsWellDefined": "XP_005266489.1:p.Ala1112Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "A", "end": 3814, "referenceAllele": "G", "start": 3813 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Ala1242Thr", "hgvsWellDefined": "XP_006719900.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719838.1:c.1636G>A" ], "proteinEffect": { "hgvs": "XP_006719901.1:p.Ala546Thr", "hgvsWellDefined": "XP_006719901.1:p.Ala546Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073356" }, { "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719839.1:c.1453G>A" ], "proteinEffect": { "hgvs": "XP_006719902.1:p.Ala485Thr", "hgvsWellDefined": "XP_006719902.1:p.Ala485Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073357" }, { "coordinates": [ { "allele": "A", "end": 3826, "referenceAllele": "G", "start": 3825 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Ala1242Thr", "hgvsWellDefined": "XP_011533419.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "A", "end": 3904, "referenceAllele": "G", "start": 3903 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.3685G>A" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Ala1229Thr", "hgvsWellDefined": "XP_011533420.1:p.Ala1229Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.3637G>A" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Ala1213Thr", "hgvsWellDefined": "XP_011533421.1:p.Ala1213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "A", "end": 3625, "referenceAllele": "G", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.3406G>A" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Ala1136Thr", "hgvsWellDefined": "XP_011533422.1:p.Ala1136Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "A", "end": 3526, "referenceAllele": "G", "start": 3525 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.3307G>A" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Ala1103Thr", "hgvsWellDefined": "XP_011533423.1:p.Ala1103Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "A", "end": 2601, "referenceAllele": "G", "start": 2600 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535122.1:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_011533424.1:p.Ala830Thr", "hgvsWellDefined": "XP_011533424.1:p.Ala830Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102131" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.4039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.4039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.4039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.4039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827327114", "coordinates": [ { "allele": "A", "end": 3743, "referenceAllele": "G", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.3586G>A" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Ala1196Thr", "hgvsWellDefined": "NP_001317507.1:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "@id": "http://reg.genome.network/allele/PA2827330198", "coordinates": [ { "allele": "A", "end": 3725, "referenceAllele": "G", "start": 3724 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.3568G>A" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Ala1190Thr", "hgvsWellDefined": "NP_001317508.1:p.Ala1190Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "A", "end": 4503, "referenceAllele": "G", "start": 4502 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Ala1242Thr", "hgvsWellDefined": "XP_005266481.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.3820G>A" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Ala1274Thr", "hgvsWellDefined": "XP_005266487.1:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "A", "end": 6869, "referenceAllele": "G", "start": 6868 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.3784G>A" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Ala1262Thr", "hgvsWellDefined": "XP_005266488.1:p.Ala1262Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "A", "end": 4131, "referenceAllele": "G", "start": 4130 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Ala1242Thr", "hgvsWellDefined": "XP_006719900.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "A", "end": 5066, "referenceAllele": "G", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Ala1242Thr", "hgvsWellDefined": "XP_011533419.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "A", "end": 3881, "referenceAllele": "G", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.3724G>A" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Ala1242Thr", "hgvsWellDefined": "XP_016876116.1:p.Ala1242Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "@id": "http://reg.genome.network/allele/PA2499227097", "coordinates": [ { "allele": "A", "end": 3933, "referenceAllele": "G", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.3820G>A" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Ala1274Thr", "hgvsWellDefined": "NP_000044.2:p.Ala1274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.3820G>A" }, "RefSeq": { "hgvs": "NM_000053.4:c.3820G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Ala1274Thr" }, "RefSeq": { "hgvs": "NP_000044.2:p.Ala1274Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825280148", "coordinates": [ { "allele": "A", "end": 3312, "referenceAllele": "G", "start": 3311 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.3199G>A" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Ala1067Thr", "hgvsWellDefined": "NP_001005918.1:p.Ala1067Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "@id": "http://reg.genome.network/allele/PA2827330198", "coordinates": [ { "allele": "A", "end": 3681, "referenceAllele": "G", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.3568G>A" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Ala1190Thr", "hgvsWellDefined": "NP_001317508.1:p.Ala1190Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "@id": "http://reg.genome.network/allele/PA2826318464", "coordinates": [ { "allele": "A", "end": 3600, "referenceAllele": "G", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.3487G>A" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Ala1163Thr", "hgvsWellDefined": "NP_001230111.1:p.Ala1163Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827327114", "coordinates": [ { "allele": "A", "end": 3699, "referenceAllele": "G", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.3586G>A" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Ala1196Thr", "hgvsWellDefined": "NP_001317507.1:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }