{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA123355", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3641888", "active": true, "id": "COSM3641888" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4814361", "active": true, "id": "COSM4814361" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28726[alleleid]", "alleleId": 28726, "preferredName": "NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13687", "RCV": [ "RCV000014683", "RCV000033063", "RCV000778841", "RCV001781265" ], "variationId": 13687 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87041264G>A?assembly=hg19", "id": "chr7:g.87041264G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87411948G>A?assembly=hg38", "id": "chr7:g.87411948G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918440", "rs": 121918440 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87411948-G-A?dataset=gnomad_r3", "id": "7-87411948-G-A", "variant": "7:87411948 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87411948-G-A?dataset=gnomad_r4", "id": "7-87411948-G-A", "variant": "7:87411948 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87411948, "referenceAllele": "G", "start": 87411947 } ], "hgvs": [ "NC_000007.14:g.87411948G>A", "CM000669.2:g.87411948G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87041264, "referenceAllele": "G", "start": 87041263 } ], "hgvs": [ "NC_000007.13:g.87041264G>A", "CM000669.1:g.87041264G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 86879200, "referenceAllele": "G", "start": 86879199 } ], "hgvs": [ "NC_000007.12:g.86879200G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 73485, "referenceAllele": "C", "start": 73484 } ], "hgvs": [ "NG_007118.1:g.73485C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "T", "end": 73485, "referenceAllele": "C", "start": 73484 } ], "hgvs": [ "NG_007118.2:g.73485C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "T", "end": 2922, "referenceAllele": "C", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Arg957Ter", "hgvsWellDefined": "ENSP00000496956.2:p.Arg957_Leu1279delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.2869C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.2869C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg957Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg957Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2981, "referenceAllele": "C", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Arg957Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "T", "end": 2859, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2859, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "T", "end": 2901, "referenceAllele": "C", "start": 2900 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Arg957Ter", "hgvsWellDefined": "ENSP00000352135.3:p.Arg957_Leu1279delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "T", "end": 2783, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2783, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171855", "coordinates": [ { "allele": "T", "end": 2945, "referenceAllele": "C", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg957Ter", "hgvsWellDefined": "NP_000434.1:p.Arg957_Leu1279delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA123356", "coordinates": [ { "allele": "T", "end": 2945, "referenceAllele": "C", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg957Ter", "hgvsWellDefined": "NP_061337.1:p.Arg957_Leu1286delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "coordinates": [ { "allele": "T", "end": 2859, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2859, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Arg957Ter", "hgvsWellDefined": "XP_011514610.1:p.Arg957_Leu1286delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "T", "end": 2959, "referenceAllele": "C", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Arg957Ter", "hgvsWellDefined": "XP_011514611.1:p.Arg957_Leu1279delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "C", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.2764C>T" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Arg922Ter", "hgvsWellDefined": "XP_011514612.1:p.Arg922_Leu1251delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "T", "end": 2874, "endIntronDirection": "-", "endIntronOffset": 43, "referenceAllele": "C", "start": 2874, "startIntronDirection": "-", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.2784-44C>T" ], "proteinEffect": { "hgvs": "XP_011514613.1:n.2784-44C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "T", "end": 2874, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2874, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "XP_011514614.1:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "T", "end": 2873, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2873, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "XP_011514615.1:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "T", "end": 4266, "referenceAllele": "C", "start": 4265 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.2890C>T" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Arg964Ter", "hgvsWellDefined": "XP_011514616.1:p.Arg964_Leu1293delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "T", "end": 2345, "referenceAllele": "C", "start": 2344 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.2209C>T" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Arg737Ter", "hgvsWellDefined": "XP_011514617.1:p.Arg737_Leu1066delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "T", "end": 2778, "endIntronDirection": "-", "endIntronOffset": 2555, "referenceAllele": "C", "start": 2778, "startIntronDirection": "-", "startIntronOffset": 2556 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.2779-2556C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "T", "end": 3824, "referenceAllele": "C", "start": 3823 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.3139C>T" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Arg1047Ter", "hgvsWellDefined": "XP_011514610.3:p.Arg1047_Ser1384delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "T", "end": 3820, "referenceAllele": "C", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.3139C>T" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Arg1047Ter", "hgvsWellDefined": "XP_011514611.3:p.Arg1047_Ser1377delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "T", "end": 3722, "referenceAllele": "C", "start": 3721 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.3034C>T" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Arg1012Ter", "hgvsWellDefined": "XP_011514612.3:p.Arg1012_Ser1349delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "T", "end": 3739, "endIntronDirection": "-", "endIntronOffset": 43, "referenceAllele": "C", "start": 3739, "startIntronDirection": "-", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.3054-44C>T" ], "proteinEffect": { "hgvs": "XP_011514613.3:n.3054-44C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "T", "end": 3737, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 3737, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.3053+1669C>T" ], "proteinEffect": { "hgvs": "XP_011514614.3:n.3053+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "T", "end": 3732, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 3732, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.3053+1669C>T" ], "proteinEffect": { "hgvs": "XP_011514615.2:n.3053+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "T", "end": 2345, "referenceAllele": "C", "start": 2344 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.2209C>T" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Arg737Ter", "hgvsWellDefined": "XP_011514617.2:p.Arg737_Ser1074delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "C", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Arg957Ter", "hgvsWellDefined": "XP_016867812.1:p.Arg957_Ser1294delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "T", "end": 3453, "endIntronDirection": "-", "endIntronOffset": 2555, "referenceAllele": "C", "start": 3453, "startIntronDirection": "-", "startIntronOffset": 2556 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.3454-2556C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "@id": "http://reg.genome.network/allele/PA2825171855", "coordinates": [ { "allele": "T", "end": 2922, "referenceAllele": "C", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg957Ter", "hgvsWellDefined": "NP_000434.1:p.Arg957_Leu1279delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.2869C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.2869C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg957Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg957Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA123356", "coordinates": [ { "allele": "T", "end": 2922, "referenceAllele": "C", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg957Ter", "hgvsWellDefined": "NP_061337.1:p.Arg957_Leu1286delinsPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "coordinates": [ { "allele": "T", "end": 2836, "endIntronDirection": "+", "endIntronOffset": 1669, "referenceAllele": "C", "start": 2836, "startIntronDirection": "+", "startIntronOffset": 1668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.2783+1669C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:n.2783+1669C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }