{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA256911", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28657[alleleid]", "alleleId": 28657, "preferredName": "NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13618", "RCV": [ "RCV000014588", "RCV001171912" ], "variationId": 13618 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-47684830-C-T", "id": "16-47684830-C-T", "variant": "16:47684830 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47684830C>T?assembly=hg19", "id": "chr16:g.47684830C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47650919C>T?assembly=hg38", "id": "chr16:g.47650919C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/34667348", "rs": 34667348 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47684830-C-T?dataset=gnomad_r2_1", "id": "16-47684830-C-T", "variant": "16:47684830 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47650919-C-T?dataset=gnomad_r3", "id": "16-47650919-C-T", "variant": "16:47650919 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47650919-C-T?dataset=gnomad_r4", "id": "16-47650919-C-T", "variant": "16:47650919 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47650919, "referenceAllele": "C", "start": 47650918 } ], "hgvs": [ "NC_000016.10:g.47650919C>T", "CM000678.2:g.47650919C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47684830, "referenceAllele": "C", "start": 47684829 } ], "hgvs": [ "NC_000016.9:g.47684830C>T", "CM000678.1:g.47684830C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 46242331, "referenceAllele": "C", "start": 46242330 } ], "hgvs": [ "NC_000016.8:g.46242331C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 194621, "referenceAllele": "C", "start": 194620 } ], "hgvs": [ "NG_016598.1:g.194621C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.*543C>T" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:n.*543C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "T", "end": 2116, "referenceAllele": "C", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1948C>T" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Gln650Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Gln650_Lys813delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Gln657Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1969C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1969C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Gln657Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Gln657Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1994, "referenceAllele": "C", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Gln657Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "C", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Gln657Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1948C>T" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Gln650Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Gln650_Ser1086delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000568171.1:n.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS380593" }, { "@id": "http://reg.genome.network/allele/PA256912", "coordinates": [ { "allele": "T", "end": 2021, "referenceAllele": "C", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Gln657Ter", "hgvsWellDefined": "NP_000284.1:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825357132", "coordinates": [ { "allele": "T", "end": 2133, "referenceAllele": "C", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1948C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Gln650Ter", "hgvsWellDefined": "NP_001027005.1:p.Gln650_Ser1086delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Gln657Ter", "hgvsWellDefined": "XP_005256040.1:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "T", "end": 2147, "referenceAllele": "C", "start": 2146 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1948C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Gln650Ter", "hgvsWellDefined": "XP_005256041.1:p.Gln650_Ser1086delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Gln657Ter", "hgvsWellDefined": "XP_011521408.1:p.Gln657_Trp779delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523107.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_011521409.1:p.Gln183Ter", "hgvsWellDefined": "XP_011521409.1:p.Gln183_Ser619delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090247" }, { "@id": "http://reg.genome.network/allele/PA916044416", "coordinates": [ { "allele": "T", "end": 2021, "referenceAllele": "C", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Gln657Ter", "hgvsWellDefined": "NP_001350766.1:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Gln657Ter", "hgvsWellDefined": "XP_005256040.1:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "T", "end": 2284, "referenceAllele": "C", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1948C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Gln650Ter", "hgvsWellDefined": "XP_005256041.1:p.Gln650_Ser1086delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.856C>T" ], "proteinEffect": { "hgvs": "XP_016878771.1:p.Gln286Ter", "hgvsWellDefined": "XP_016878771.1:p.Gln286_Ser722delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_016878772.1:p.Gln183Ter", "hgvsWellDefined": "XP_016878772.1:p.Gln183_Ser619delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_016878773.1:p.Gln183Ter", "hgvsWellDefined": "XP_016878773.1:p.Gln183_Ser619delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1984C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA256912", "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Gln657Ter", "hgvsWellDefined": "NP_000284.1:p.Gln657_Ser1093delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1969C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1969C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Gln657Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Gln657Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825357132", "coordinates": [ { "allele": "T", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1948C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Gln650Ter", "hgvsWellDefined": "NP_001027005.1:p.Gln650_Ser1086delinsThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }