{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388023832", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547176[alleleid]", "alleleId": 547176, "preferredName": "NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552337", "RCV": [ "RCV000667577" ], "variationId": 552337 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52513224C>T?assembly=hg19", "id": "chr13:g.52513224C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51939088C>T?assembly=hg38", "id": "chr13:g.51939088C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1486594906", "rs": 1486594906 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-51939088-C-T?dataset=gnomad_r4", "id": "13-51939088-C-T", "variant": "13:51939088 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 51939088, "referenceAllele": "C", "start": 51939087 } ], "hgvs": [ "NC_000013.11:g.51939088C>T", "CM000675.2:g.51939088C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 52513224, "referenceAllele": "C", "start": 52513223 } ], "hgvs": [ "NC_000013.10:g.52513224C>T", "CM000675.1:g.52513224C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 51411225, "referenceAllele": "C", "start": 51411224 } ], "hgvs": [ "NC_000013.9:g.51411225C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 77407, "referenceAllele": "G", "start": 77406 } ], "hgvs": [ "NG_008806.1:g.77407G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3417, "referenceAllele": "G", "start": 3416 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.*1312G>A" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:n.*1312G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "A", "end": 4199, "referenceAllele": "G", "start": 4198 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.*2406G>A" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:n.*2406G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "A", "end": 3154, "referenceAllele": "G", "start": 3153 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.3041G>A" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Gly1014Glu", "hgvsWellDefined": "ENSP00000500964.2:p.Gly1014Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.3662G>A" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Gly1221Glu", "hgvsWellDefined": "ENSP00000242839.5:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.3662G>A" }, "RefSeq": { "hgvs": "NM_000053.4:c.3662G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Gly1221Glu" }, "RefSeq": { "hgvs": "NP_000044.2:p.Gly1221Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 3198, "referenceAllele": "G", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.3041G>A" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gly1014Glu", "hgvsWellDefined": "ENSP00000342559.5:p.Gly1014Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "A", "end": 3329, "referenceAllele": "G", "start": 3328 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.3329G>A" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Gly1110Glu", "hgvsWellDefined": "ENSP00000383217.3:p.Gly1110Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "A", "end": 3663, "referenceAllele": "G", "start": 3662 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.3410G>A" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Gly1137Glu", "hgvsWellDefined": "ENSP00000416738.3:p.Gly1137Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673696.1:n.903G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773796" }, { "coordinates": [ { "allele": "A", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.3428G>A" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Gly1143Glu", "hgvsWellDefined": "ENSP00000501168.1:p.Gly1143Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "A", "end": 3801, "referenceAllele": "G", "start": 3800 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673867.1:n.3801G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773928" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "G", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673923.1:n.528G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773978" }, { "coordinates": [ { "allele": "A", "end": 2597, "referenceAllele": "G", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.2597G>A" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Gly866Glu", "hgvsWellDefined": "ENSP00000500964.1:p.Gly866Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "A", "end": 3819, "referenceAllele": "G", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.3662G>A" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Gly1221Glu", "hgvsWellDefined": "ENSP00000242839.4:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "A", "end": 3043, "referenceAllele": "G", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.3041G>A" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gly1014Glu", "hgvsWellDefined": "ENSP00000342559.5:p.Gly1014Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "A", "end": 3486, "referenceAllele": "G", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.3329G>A" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Gly1110Glu", "hgvsWellDefined": "ENSP00000383217.3:p.Gly1110Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "A", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.2372G>A" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Gly791Glu", "hgvsWellDefined": "ENSP00000383221.3:p.Gly791Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "A", "end": 3541, "referenceAllele": "G", "start": 3540 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Gly1156Glu", "hgvsWellDefined": "ENSP00000393343.2:p.Gly1156Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "G", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.3428G>A" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Gly1143Glu", "hgvsWellDefined": "ENSP00000416738.2:p.Gly1143Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.1:c.1440G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407767" }, { "coordinates": [ { "allele": "A", "end": 3520, "referenceAllele": "G", "start": 3519 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.*763G>A" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:n.*763G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "A", "end": 4406, "referenceAllele": "G", "start": 4405 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634620.1:n.4406G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407886" }, { "coordinates": [ { "allele": "A", "end": 3007, "referenceAllele": "G", "start": 3006 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634810.1:n.3007G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407945" }, { "coordinates": [ { "allele": "A", "end": 3592, "referenceAllele": "G", "start": 3591 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.3518G>A" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Gly1173Glu", "hgvsWellDefined": "ENSP00000489398.1:p.Gly1173Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "@id": "http://reg.genome.network/allele/PA091888", "coordinates": [ { "allele": "A", "end": 3819, "referenceAllele": "G", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.3662G>A" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Gly1221Glu", "hgvsWellDefined": "NP_000044.2:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825280075", "coordinates": [ { "allele": "A", "end": 3198, "referenceAllele": "G", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.3041G>A" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Gly1014Glu", "hgvsWellDefined": "NP_001005918.1:p.Gly1014Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "@id": "http://reg.genome.network/allele/PA2826318393", "coordinates": [ { "allele": "A", "end": 3486, "referenceAllele": "G", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.3329G>A" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Gly1110Glu", "hgvsWellDefined": "NP_001230111.1:p.Gly1110Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "A", "end": 3724, "referenceAllele": "G", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Gly1189Glu", "hgvsWellDefined": "XP_005266480.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "A", "end": 3816, "referenceAllele": "G", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Gly1189Glu", "hgvsWellDefined": "XP_005266481.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "A", "end": 3647, "referenceAllele": "G", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.3428G>A" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Gly1143Glu", "hgvsWellDefined": "XP_005266484.1:p.Gly1143Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "A", "end": 3629, "referenceAllele": "G", "start": 3628 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.3410G>A" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Gly1137Glu", "hgvsWellDefined": "XP_005266485.1:p.Gly1137Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "A", "end": 3796, "referenceAllele": "G", "start": 3795 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.3662G>A" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Gly1221Glu", "hgvsWellDefined": "XP_005266487.1:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "A", "end": 3641, "referenceAllele": "G", "start": 3640 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.3626G>A" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Gly1209Glu", "hgvsWellDefined": "XP_005266488.1:p.Gly1209Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "A", "end": 3395, "referenceAllele": "G", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.3176G>A" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Gly1059Glu", "hgvsWellDefined": "XP_005266489.1:p.Gly1059Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "A", "end": 3656, "referenceAllele": "G", "start": 3655 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Gly1189Glu", "hgvsWellDefined": "XP_006719900.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "A", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719838.1:c.1478G>A" ], "proteinEffect": { "hgvs": "XP_006719901.1:p.Gly493Glu", "hgvsWellDefined": "XP_006719901.1:p.Gly493Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073356" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719839.1:c.1295G>A" ], "proteinEffect": { "hgvs": "XP_006719902.1:p.Gly432Glu", "hgvsWellDefined": "XP_006719902.1:p.Gly432Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073357" }, { "coordinates": [ { "allele": "A", "end": 3668, "referenceAllele": "G", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Gly1189Glu", "hgvsWellDefined": "XP_011533419.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "A", "end": 3746, "referenceAllele": "G", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.3527G>A" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Gly1176Glu", "hgvsWellDefined": "XP_011533420.1:p.Gly1176Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.3479G>A" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Gly1160Glu", "hgvsWellDefined": "XP_011533421.1:p.Gly1160Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "A", "end": 3467, "referenceAllele": "G", "start": 3466 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.3248G>A" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Gly1083Glu", "hgvsWellDefined": "XP_011533422.1:p.Gly1083Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "A", "end": 3368, "referenceAllele": "G", "start": 3367 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.3149G>A" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Gly1050Glu", "hgvsWellDefined": "XP_011533423.1:p.Gly1050Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "A", "end": 2443, "referenceAllele": "G", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535122.1:c.2330G>A" ], "proteinEffect": { "hgvs": "XP_011533424.1:p.Gly777Glu", "hgvsWellDefined": "XP_011533424.1:p.Gly777Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102131" }, { "coordinates": [ { "allele": "A", "end": 3881, "referenceAllele": "G", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.3881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "A", "end": 3881, "referenceAllele": "G", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.3881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "A", "end": 3881, "referenceAllele": "G", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.3881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "A", "end": 3881, "referenceAllele": "G", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.3881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827326967", "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "G", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.3428G>A" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Gly1143Glu", "hgvsWellDefined": "NP_001317507.1:p.Gly1143Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "@id": "http://reg.genome.network/allele/PA2827330075", "coordinates": [ { "allele": "A", "end": 3567, "referenceAllele": "G", "start": 3566 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.3410G>A" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Gly1137Glu", "hgvsWellDefined": "NP_001317508.1:p.Gly1137Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "A", "end": 4345, "referenceAllele": "G", "start": 4344 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Gly1189Glu", "hgvsWellDefined": "XP_005266481.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "A", "end": 3827, "referenceAllele": "G", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.3662G>A" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Gly1221Glu", "hgvsWellDefined": "XP_005266487.1:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "A", "end": 6711, "referenceAllele": "G", "start": 6710 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.3626G>A" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Gly1209Glu", "hgvsWellDefined": "XP_005266488.1:p.Gly1209Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "A", "end": 3973, "referenceAllele": "G", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Gly1189Glu", "hgvsWellDefined": "XP_006719900.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "A", "end": 4908, "referenceAllele": "G", "start": 4907 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Gly1189Glu", "hgvsWellDefined": "XP_011533419.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "A", "end": 3723, "referenceAllele": "G", "start": 3722 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.3566G>A" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Gly1189Glu", "hgvsWellDefined": "XP_016876116.1:p.Gly1189Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "@id": "http://reg.genome.network/allele/PA091888", "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.3662G>A" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Gly1221Glu", "hgvsWellDefined": "NP_000044.2:p.Gly1221Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.3662G>A" }, "RefSeq": { "hgvs": "NM_000053.4:c.3662G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Gly1221Glu" }, "RefSeq": { "hgvs": "NP_000044.2:p.Gly1221Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825280075", "coordinates": [ { "allele": "A", "end": 3154, "referenceAllele": "G", "start": 3153 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.3041G>A" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Gly1014Glu", "hgvsWellDefined": "NP_001005918.1:p.Gly1014Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "@id": "http://reg.genome.network/allele/PA2827330075", "coordinates": [ { "allele": "A", "end": 3523, "referenceAllele": "G", "start": 3522 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.3410G>A" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Gly1137Glu", "hgvsWellDefined": "NP_001317508.1:p.Gly1137Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "@id": "http://reg.genome.network/allele/PA2826318393", "coordinates": [ { "allele": "A", "end": 3442, "referenceAllele": "G", "start": 3441 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.3329G>A" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Gly1110Glu", "hgvsWellDefined": "NP_001230111.1:p.Gly1110Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827326967", "coordinates": [ { "allele": "A", "end": 3541, "referenceAllele": "G", "start": 3540 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.3428G>A" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Gly1143Glu", "hgvsWellDefined": "NP_001317507.1:p.Gly1143Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }