{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8973949", "communityStandardTitle": [ "NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5596337", "active": true, "id": "COSM5596337" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=331925[alleleid]", "alleleId": 331925, "preferredName": "NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/327467", "RCV": [ "RCV000328034", "RCV003765895", "RCV004549724" ], "variationId": 327467 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-55315822-C-T", "id": "18-55315822-C-T", "variant": "18:55315822 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55315822C>T?assembly=hg19", "id": "chr18:g.55315822C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.57648590C>T?assembly=hg38", "id": "chr18:g.57648590C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/778786114", "rs": 778786114 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-55315822-C-T?dataset=gnomad_r2_1", "id": "18-55315822-C-T", "variant": "18:55315822 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-57648590-C-T?dataset=gnomad_r3", "id": "18-57648590-C-T", "variant": "18:57648590 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-57648590-C-T?dataset=gnomad_r4", "id": "18-57648590-C-T", "variant": "18:57648590 C / T" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 57648590, "referenceAllele": "C", "start": 57648589 } ], "hgvs": [ "NC_000018.10:g.57648590C>T", "CM000680.2:g.57648590C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 55315822, "referenceAllele": "C", "start": 55315821 } ], "hgvs": [ "NC_000018.9:g.55315822C>T", "CM000680.1:g.55315822C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 53466820, "referenceAllele": "C", "start": 53466819 } ], "hgvs": [ "NC_000018.8:g.53466820C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 159506, "referenceAllele": "G", "start": 159505 } ], "hgvs": [ "NG_007148.2:g.159506G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000501" }, { "coordinates": [ { "allele": "A", "end": 160233, "referenceAllele": "G", "start": 160232 } ], "hgvs": [ "NG_007148.3:g.160233G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616070" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3809, "referenceAllele": "G", "start": 3808 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000642462.1:c.*886G>A" ], "proteinEffect": { "hgvs": "ENSP00000494712.1:n.*886G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766759" }, { "coordinates": [ { "allele": "A", "end": 3822, "referenceAllele": "G", "start": 3821 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648039.1:c.*886G>A" ], "proteinEffect": { "hgvs": "ENSP00000497863.1:n.*886G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769755" }, { "coordinates": [ { "allele": "A", "end": 3997, "referenceAllele": "G", "start": 3996 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648908.2:c.3654G>A" ], "proteinEffect": { "hgvs": "ENSP00000497896.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS770250", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.3654G>A" }, "RefSeq": { "hgvs": "NM_001374385.1:c.3654G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Ala1218=" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Ala1218=" } } } }, { "coordinates": [ { "allele": "A", "end": 3654, "referenceAllele": "G", "start": 3653 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000283684.8:c.3654G>A" ], "proteinEffect": { "hgvs": "ENSP00000283684.4:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS253179" }, { "coordinates": [ { "allele": "A", "end": 3774, "referenceAllele": "G", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000536015.5:c.3654G>A" ], "proteinEffect": { "hgvs": "ENSP00000445359.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS360049" }, { "coordinates": [ { "allele": "T", "end": 711, "endIntronDirection": "+", "endIntronOffset": 6538, "referenceAllele": "C", "start": 711, "startIntronDirection": "+", "startIntronOffset": 6537 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NM_001242804.1:c.139+6538C>T" ], "proteinEffect": { "hgvs": "NP_001229733.1:n.139+6538C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS018258" }, { "coordinates": [ { "allele": "A", "end": 3774, "referenceAllele": "G", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.4:c.3654G>A" ], "proteinEffect": { "hgvs": "NP_005594.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030690" }, { "coordinates": [ { "allele": "A", "end": 4504, "referenceAllele": "G", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.2:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074581" }, { "coordinates": [ { "allele": "A", "end": 3719, "referenceAllele": "G", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526020.1:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_011524322.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093128" }, { "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526021.1:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_011524323.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093129" }, { "coordinates": [ { "allele": "A", "end": 3737, "referenceAllele": "G", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526022.1:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_011524324.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093130" }, { "coordinates": [ { "allele": "A", "end": 4390, "referenceAllele": "G", "start": 4389 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.1:c.3540G>A" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Ala1180=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093131" }, { "coordinates": [ { "allele": "A", "end": 3174, "referenceAllele": "G", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526024.1:c.2934G>A" ], "proteinEffect": { "hgvs": "XP_011524326.1:p.Ala978=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093132" }, { "@id": "http://reg.genome.network/allele/PA2829608301", "coordinates": [ { "allele": "A", "end": 3994, "referenceAllele": "G", "start": 3993 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.6:c.3654G>A" ], "proteinEffect": { "hgvs": "NP_005594.2:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS525329" }, { "coordinates": [ { "allele": "A", "end": 4504, "referenceAllele": "G", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.4:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540549" }, { "coordinates": [ { "allele": "A", "end": 4390, "referenceAllele": "G", "start": 4389 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.3:c.3540G>A" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Ala1180=" }, "referenceSequence": "http://reg.genome.network/refseq/RS548105" }, { "@id": "http://reg.genome.network/allele/PA2828509804", "coordinates": [ { "allele": "A", "end": 3997, "referenceAllele": "G", "start": 3996 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374385.1:c.3654G>A" ], "proteinEffect": { "hgvs": "NP_001361314.1:p.Ala1218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693251", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.3654G>A" }, "RefSeq": { "hgvs": "NM_001374385.1:c.3654G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Ala1218=" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Ala1218=" } } } }, { "@id": "http://reg.genome.network/allele/PA2828510297", "coordinates": [ { "allele": "A", "end": 3899, "referenceAllele": "G", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374386.1:c.3504G>A" ], "proteinEffect": { "hgvs": "NP_001361315.1:p.Ala1168=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693252" }, { "coordinates": [ { "allele": "T", "end": 682, "endIntronDirection": "+", "endIntronOffset": 6538, "referenceAllele": "C", "start": 682, "startIntronDirection": "+", "startIntronOffset": 6537 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NR_164148.1:n.682+6538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705709" } ], "type": "nucleotide" }