{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2794682", "communityStandardTitle": [ "NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1694057", "active": true, "id": "COSM1694057" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1060083[alleleid]", "alleleId": 1060083, "preferredName": "NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070411", "RCV": [ "RCV001382537", "RCV001702590", "RCV002272466" ], "variationId": 1070411 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-656373-G-A", "id": "4-656373-G-A", "variant": "4:656373 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.656373G>A?assembly=hg19", "id": "chr4:g.656373G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.662584G>A?assembly=hg38", "id": "chr4:g.662584G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764605140", "rs": 764605140 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-656373-G-A?dataset=gnomad_r2_1", "id": "4-656373-G-A", "variant": "4:656373 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-662584-G-A?dataset=gnomad_r4", "id": "4-662584-G-A", "variant": "4:662584 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 662584, "referenceAllele": "G", "start": 662583 } ], "hgvs": [ "NC_000004.12:g.662584G>A", "CM000666.2:g.662584G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 656373, "referenceAllele": "G", "start": 656372 } ], "hgvs": [ "NC_000004.11:g.656373G>A", "CM000666.1:g.656373G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 646373, "referenceAllele": "G", "start": 646372 } ], "hgvs": [ "NC_000004.10:g.646373G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 42011, "referenceAllele": "G", "start": 42010 } ], "hgvs": [ "NG_009839.1:g.42011G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001671" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000496514.6:c.1798G>A" ], "proteinEffect": { "hgvs": "ENSP00000420295.1:p.Asp600Asn", "hgvsWellDefined": "ENSP00000420295.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS757834", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000496514.6:c.1798G>A" }, "RefSeq": { "hgvs": "NM_000283.4:c.1798G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000420295.1:p.Asp600Asn" }, "RefSeq": { "hgvs": "NP_000274.3:p.Asp600Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000255622.10:c.1798G>A" ], "proteinEffect": { "hgvs": "ENSP00000255622.6:p.Asp600Asn", "hgvsWellDefined": "ENSP00000255622.6:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS250117" }, { "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000429163.6:c.961G>A" ], "proteinEffect": { "hgvs": "ENSP00000406334.2:p.Asp321Asn", "hgvsWellDefined": "ENSP00000406334.2:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS290537" }, { "coordinates": [ { "allele": "A", "end": 1819, "referenceAllele": "G", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000496514.5:c.1798G>A" ], "proteinEffect": { "hgvs": "ENSP00000420295.1:p.Asp600Asn", "hgvsWellDefined": "ENSP00000420295.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS332956" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "G", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_000283.3:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_000274.2:p.Asp600Asn", "hgvsWellDefined": "NP_000274.2:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006344" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "G", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145291.1:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_001138763.1:p.Asp600Asn", "hgvsWellDefined": "NP_001138763.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS013566" }, { "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145292.1:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001138764.1:p.Asp321Asn", "hgvsWellDefined": "NP_001138764.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS013567" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513473.1:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511775.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511775.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080720" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513474.1:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511776.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511776.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080721" }, { "coordinates": [ { "allele": "A", "end": 3223, "referenceAllele": "G", "start": 3222 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513475.1:c.1798G>A" ], "proteinEffect": { "hgvs": "XP_011511777.1:p.Asp600Asn", "hgvsWellDefined": "XP_011511777.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080722" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513476.1:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511778.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511778.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080723" }, { "coordinates": [ { "allele": "A", "end": 1970, "referenceAllele": "G", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513477.1:c.1003G>A" ], "proteinEffect": { "hgvs": "XP_011511779.1:p.Asp335Asn", "hgvsWellDefined": "XP_011511779.1:p.Asp335Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080724" }, { "coordinates": [ { "allele": "A", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513478.1:c.727G>A" ], "proteinEffect": { "hgvs": "XP_011511780.1:p.Asp243Asn", "hgvsWellDefined": "XP_011511780.1:p.Asp243Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS080725" }, { "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "C", "start": 215 } ], "hgvs": [ "XR_925029.1:n.216C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122030" }, { "@id": "http://reg.genome.network/allele/PA2827495158", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.1:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Asp321Asn", "hgvsWellDefined": "NP_001337083.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS519158" }, { "@id": "http://reg.genome.network/allele/PA2827495918", "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.1:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001337084.1:p.Asp215Asn", "hgvsWellDefined": "NP_001337084.1:p.Asp215Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS519159" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513473.3:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511775.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511775.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS542927" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513474.3:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511776.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511776.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS542928" }, { "coordinates": [ { "allele": "A", "end": 3221, "referenceAllele": "G", "start": 3220 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513475.2:c.1798G>A" ], "proteinEffect": { "hgvs": "XP_011511777.1:p.Asp600Asn", "hgvsWellDefined": "XP_011511777.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS542929" }, { "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "G", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513476.3:c.2017G>A" ], "proteinEffect": { "hgvs": "XP_011511778.1:p.Asp673Asn", "hgvsWellDefined": "XP_011511778.1:p.Asp673Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS542930" }, { "coordinates": [ { "allele": "A", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513478.2:c.727G>A" ], "proteinEffect": { "hgvs": "XP_011511780.1:p.Asp243Asn", "hgvsWellDefined": "XP_011511780.1:p.Asp243Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS542931" }, { "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008284.1:c.961G>A" ], "proteinEffect": { "hgvs": "XP_016863773.1:p.Asp321Asn", "hgvsWellDefined": "XP_016863773.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562820" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008285.1:c.961G>A" ], "proteinEffect": { "hgvs": "XP_016863774.1:p.Asp321Asn", "hgvsWellDefined": "XP_016863774.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562821" }, { "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008286.1:c.961G>A" ], "proteinEffect": { "hgvs": "XP_016863775.1:p.Asp321Asn", "hgvsWellDefined": "XP_016863775.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS562822" }, { "@id": "http://reg.genome.network/allele/PA2827495158", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.2:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Asp321Asn", "hgvsWellDefined": "NP_001337083.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS688232" }, { "@id": "http://reg.genome.network/allele/PA2827495918", "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001337084.1:p.Asp215Asn", "hgvsWellDefined": "NP_001337084.1:p.Asp215Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS688233" }, { "@id": "http://reg.genome.network/allele/PA2825139939", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_000283.4:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_000274.3:p.Asp600Asn", "hgvsWellDefined": "NP_000274.3:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS710821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000496514.6:c.1798G>A" }, "RefSeq": { "hgvs": "NM_000283.4:c.1798G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000420295.1:p.Asp600Asn" }, "RefSeq": { "hgvs": "NP_000274.3:p.Asp600Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2499239881", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145291.2:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_001138763.2:p.Asp600Asn", "hgvsWellDefined": "NP_001138763.2:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS712791" }, { "@id": "http://reg.genome.network/allele/PA2825886354", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145292.2:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001138764.2:p.Asp321Asn", "hgvsWellDefined": "NP_001138764.2:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS712792" }, { "@id": "http://reg.genome.network/allele/PA2827495158", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.3:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Asp321Asn", "hgvsWellDefined": "NP_001337083.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS719479" }, { "@id": "http://reg.genome.network/allele/PA2827495918", "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.3:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001337084.1:p.Asp215Asn", "hgvsWellDefined": "NP_001337084.1:p.Asp215Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS719480" }, { "@id": "http://reg.genome.network/allele/PA2828816859", "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "G", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379246.1:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001366175.1:p.Asp321Asn", "hgvsWellDefined": "NP_001366175.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS721937" }, { "@id": "http://reg.genome.network/allele/PA2828817299", "coordinates": [ { "allele": "A", "end": 1207, "referenceAllele": "G", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379247.1:c.961G>A" ], "proteinEffect": { "hgvs": "NP_001366176.1:p.Asp321Asn", "hgvsWellDefined": "NP_001366176.1:p.Asp321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS721938" } ], "type": "nucleotide" }