{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3777835", "communityStandardTitle": [ "NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2418831[alleleid]", "alleleId": 2418831, "preferredName": "NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2445879", "RCV": [ "RCV003155798", "RCV003327596" ], "variationId": 2445879 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-36263162-C-T", "id": "6-36263162-C-T", "variant": "6:36263162 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.36263162C>T?assembly=hg19", "id": "chr6:g.36263162C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.36295385C>T?assembly=hg38", "id": "chr6:g.36295385C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/777268917", "rs": 777268917 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-36263162-C-T?dataset=gnomad_r2_1", "id": "6-36263162-C-T", "variant": "6:36263162 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-36295385-C-T?dataset=gnomad_r3", "id": "6-36295385-C-T", "variant": "6:36295385 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-36295385-C-T?dataset=gnomad_r4", "id": "6-36295385-C-T", "variant": "6:36295385 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 36295385, "referenceAllele": "C", "start": 36295384 } ], "hgvs": [ "NC_000006.12:g.36295385C>T", "CM000668.2:g.36295385C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 36263162, "referenceAllele": "C", "start": 36263161 } ], "hgvs": [ "NC_000006.11:g.36263162C>T", "CM000668.1:g.36263162C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 36371140, "referenceAllele": "C", "start": 36371139 } ], "hgvs": [ "NC_000006.10:g.36371140C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 57218, "referenceAllele": "C", "start": 57217 } ], "hgvs": [ "NG_032813.1:g.57218C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005231" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "ENST00000636260.2:c.736C>T" ], "proteinEffect": { "hgvs": "ENSP00000490785.2:p.Arg246Ter", "hgvsWellDefined": "ENSP00000490785.2:p.Arg246_Gly572delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762993", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636260.2:c.736C>T" }, "RefSeq": { "hgvs": "NM_001374623.1:c.736C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490785.2:p.Arg246Ter" }, "RefSeq": { "hgvs": "NP_001361552.1:p.Arg246Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "ENST00000312917.9:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000321116.5:p.Arg160Ter", "hgvsWellDefined": "ENSP00000321116.5:p.Arg160_Gln446delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256738" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "ENST00000388715.7:c.451C>T" ], "proteinEffect": { "hgvs": "ENSP00000373367.3:p.Arg151Ter", "hgvsWellDefined": "ENSP00000373367.3:p.Arg151_Gln437delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274059" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "ENST00000394571.3:c.736C>T" ], "proteinEffect": { "hgvs": "ENSP00000378072.2:p.Arg246Ter", "hgvsWellDefined": "ENSP00000378072.2:p.Arg246_Gln532delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276226" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "ENST00000457797.5:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000391868.1:p.Arg247Ter", "hgvsWellDefined": "ENSP00000391868.1:p.Arg247_Gln533delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304115" }, { "@id": "http://reg.genome.network/allele/PA2825898974", "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "NM_001145716.2:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001139188.1:p.Arg160Ter", "hgvsWellDefined": "NP_001139188.1:p.Arg160_Gln446delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013743" }, { "@id": "http://reg.genome.network/allele/PA2825899083", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "NM_001145717.1:c.736C>T" ], "proteinEffect": { "hgvs": "NP_001139189.2:p.Arg246Ter", "hgvsWellDefined": "NP_001139189.2:p.Arg246_Gln532delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013744" }, { "@id": "http://reg.genome.network/allele/PA2830366964", "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "NM_173676.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_775947.2:p.Arg151Ter", "hgvsWellDefined": "NP_775947.2:p.Arg151_Gln437delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042990" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514519.1:c.736C>T" ], "proteinEffect": { "hgvs": "XP_011512821.1:p.Arg246Ter", "hgvsWellDefined": "XP_011512821.1:p.Arg246_Gly572delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081744" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514520.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011512822.1:p.Arg151Ter", "hgvsWellDefined": "XP_011512822.1:p.Arg151_Gly477delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081745" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514521.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011512823.1:p.Arg151Ter", "hgvsWellDefined": "XP_011512823.1:p.Arg151_Gly477delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081746" }, { "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514522.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011512824.1:p.Arg151Ter", "hgvsWellDefined": "XP_011512824.1:p.Arg151_Gly477delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081747" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514523.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011512825.1:p.Arg97Ter", "hgvsWellDefined": "XP_011512825.1:p.Arg97_Gly423delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081748" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514524.1:c.265C>T" ], "proteinEffect": { "hgvs": "XP_011512826.1:p.Arg89Ter", "hgvsWellDefined": "XP_011512826.1:p.Arg89_Gly415delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081749" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514525.1:c.736C>T" ], "proteinEffect": { "hgvs": "XP_011512827.1:p.Arg246Ter", "hgvsWellDefined": "XP_011512827.1:p.Arg246_Gly369delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuThrValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081750" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514526.1:c.659C>T" ], "proteinEffect": { "hgvs": "XP_011512828.1:p.Pro220Leu", "hgvsWellDefined": "XP_011512828.1:p.Pro220Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS081751" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514519.2:c.736C>T" ], "proteinEffect": { "hgvs": "XP_011512821.1:p.Arg246Ter", "hgvsWellDefined": "XP_011512821.1:p.Arg246_Gly572delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543368" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_011514520.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011512822.1:p.Arg151Ter", "hgvsWellDefined": "XP_011512822.1:p.Arg151_Gly477delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543369" }, { "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_017010776.1:c.763C>T" ], "proteinEffect": { "hgvs": "XP_016866265.1:p.Arg255Ter", "hgvsWellDefined": "XP_016866265.1:p.Arg255_Gly581delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564753" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_017010777.2:c.763C>T" ], "proteinEffect": { "hgvs": "XP_016866266.1:p.Arg255Ter", "hgvsWellDefined": "XP_016866266.1:p.Arg255_Gln541delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564754" }, { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_017010778.1:c.478C>T" ], "proteinEffect": { "hgvs": "XP_016866267.1:p.Arg160Ter", "hgvsWellDefined": "XP_016866267.1:p.Arg160_Gly486delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564755" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "XM_017010779.1:c.205C>T" ], "proteinEffect": { "hgvs": "XP_016866268.1:p.Arg69Ter", "hgvsWellDefined": "XP_016866268.1:p.Arg69_Gly395delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564756" }, { "@id": "http://reg.genome.network/allele/PA2580234508", "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN021246", "geneNCBI_id": 285848, "geneSymbol": "PNPLA1", "hgvs": [ "NM_001374623.1:c.736C>T" ], "proteinEffect": { "hgvs": "NP_001361552.1:p.Arg246Ter", "hgvsWellDefined": "NP_001361552.1:p.Arg246_Gly572delinsGlyTyrGluAspAlaValLeuTyrLeuArgArgLeuAsnAlaValTyrLeuAsnSerSerSerLysArgValIlePheProArgValGluValTyrCysGlnIleGluLeuAlaLeuGlyAsnGluCysProGluArgSerGlnProSerLeuArgAlaArgGlnAlaSerLeuGluGlyAlaThrGlnProHisLysGluTrpValProLysGlyAspGlyArgGlySerHisGlyProProValSerGlnProValGlnThrLeuGluPheThrCysGluSerProValSerAlaProValSerProLeuGluGlnProProAlaGlnProLeuAlaSerSerThrProLeuSerLeuSerGlyMetProProValSerPheProAlaValHisLysProProSerSerThrProGlySerSerLeuProThrProProProGlyLeuSerProLeuSerProGlnGlnGlnValGlnProSerGlySerProAlaArgSerLeuHisSerGlnAlaProThrSerProArgProSerLeuGlyProSerThrValGlyAlaProGlnThrLeuProArgSerSerLeuSerAlaPheProAlaGlnProProValGluGluLeuGlyGlnGluGlnProGlnAlaValAlaLeuLeuValSerSerLysProLysSerAlaValProLeuValHisValLysGluThrValSerLysProTyrValThrGluSerProAlaGluAspSerAsnTrpValAsnLysValPheLysLysAsnLysGlnLysThrSerGlyThrArgLysGlyPheProArgHisSerGlySerLysLysProSerSerLysValGlnSerAlaProCysProLeuAsnPheProLeuLeuSerThrSerGluThrValTrpValThrTyrArgProHisProSerArgIleGlnGluCysCysProGluValTrpAsnSerLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693331", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636260.2:c.736C>T" }, "RefSeq": { "hgvs": "NM_001374623.1:c.736C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490785.2:p.Arg246Ter" }, "RefSeq": { "hgvs": "NP_001361552.1:p.Arg246Ter" } } } } ], "type": "nucleotide" }