{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041556", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358079[alleleid]", "alleleId": 358079, "preferredName": "NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371066", "RCV": [ "RCV000411661" ], "variationId": 371066 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71155983G>A?assembly=hg19", "id": "chr11:g.71155983G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71444937G>A?assembly=hg38", "id": "chr11:g.71444937G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516977", "rs": 1057516977 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71155983-G-A?dataset=gnomad_r2_1", "id": "11-71155983-G-A", "variant": "11:71155983 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71444937-G-A?dataset=gnomad_r4", "id": "11-71444937-G-A", "variant": "11:71444937 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 71444937, "referenceAllele": "G", "start": 71444936 } ], "hgvs": [ "NC_000011.10:g.71444937G>A", "CM000673.2:g.71444937G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 71155983, "referenceAllele": "G", "start": 71155982 } ], "hgvs": [ "NC_000011.9:g.71155983G>A", "CM000673.1:g.71155983G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 70833631, "referenceAllele": "G", "start": 70833630 } ], "hgvs": [ "NC_000011.8:g.70833631G>A" ], "referenceGenome": 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"ENSP00000435707.3:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Gln6Ter", "hgvsWellDefined": "ENSP00000435668.2:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.-230C>T" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:n.-230C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.6:c.-197C>T" ], "proteinEffect": { "hgvs": "ENSP00000435058.2:n.-197C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS825782" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000506866.1:p.Gln6_Phe492delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysPheProGlyGluProCysTrpLeuValProIleProMetAlaGlyGlnCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Gln6Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Gln6Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Gln6Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "T", "end": 157, "endIntronDirection": "-", "endIntronOffset": 875, "referenceAllele": "C", "start": 157, "startIntronDirection": "-", "startIntronOffset": 876 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-333-876C>T" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-333-876C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000510750.1:p.Gln6_Phe443delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaCysCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Gln6Ter", "hgvsWellDefined": "ENSP00000347717.4:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.16C>T" }, "RefSeq": { "hgvs": "NM_001360.3:c.16C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Gln6Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Gln6Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Gln6Ter", "hgvsWellDefined": "ENSP00000347717.3:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Gln6Ter", "hgvsWellDefined": "ENSP00000384739.2:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "C", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000435707.2:p.Gln6Ter", "hgvsWellDefined": "ENSP00000435707.2:p.Gln6_Gln107del" }, "referenceSequence": "http://reg.genome.network/refseq/RS351390" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000435668.1:p.Gln6Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000435047.1:p.Gln6Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527452.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000436007.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000436007.1:p.Gln6_Pro91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353153" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.5:c.-83C>T" ], "proteinEffect": { "hgvs": "ENSP00000435058.1:n.-83C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355313" }, { "coordinates": [ { "allele": "T", "end": 206, "referenceAllele": "C", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000531364.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000432589.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000432589.1:p.Gln6Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356469" }, { "@id": "http://reg.genome.network/allele/PA2825964122", "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Gln6Ter", "hgvsWellDefined": "NP_001157289.1:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA645485336", "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.16C>T", "LRG_340t1:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Gln6Ter", "hgvsWellDefined": "NP_001351.2:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.16C>T" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Gln6Ter", "hgvsWellDefined": "XP_011543079.1:p.Gln6_Thr456delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.16C>T" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Gln6Ter", "hgvsWellDefined": "XP_011543079.1:p.Gln6_Thr456delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964122", "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Gln6Ter", "hgvsWellDefined": "NP_001157289.1:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA645485336", "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Gln6Ter", "hgvsWellDefined": "NP_001351.2:p.Gln6_Phe475delinsProAsnIleProLysAlaLysSerLeuAspGlyValThrAsnAspArgThrAlaSerGlnGlyGlnTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.16C>T" }, "RefSeq": { "hgvs": "NM_001360.3:c.16C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Gln6Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Gln6Ter" } } } } ], "type": "nucleotide" }