{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348769558", "communityStandardTitle": [ "NM_001164508.2(NEB):c.25562A>G (p.Tyr8521Cys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152342290T>C?assembly=hg19", "id": "chr2:g.152342290T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.151485776T>C?assembly=hg38", "id": "chr2:g.151485776T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2049772724", "rs": 2049772724 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151485776-T-C?dataset=gnomad_r4", "id": "2-151485776-T-C", "variant": "2:151485776 T / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 151485776, "referenceAllele": "T", "start": 151485775 } ], "hgvs": [ "NC_000002.12:g.151485776T>C", "CM000664.2:g.151485776T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 152342290, "referenceAllele": "T", "start": 152342289 } ], "hgvs": [ "NC_000002.11:g.152342290T>C", "CM000664.1:g.152342290T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 152050536, "referenceAllele": "T", "start": 152050535 } ], "hgvs": [ "NC_000002.10:g.152050536T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 253712, "referenceAllele": "A", "start": 253711 } ], "hgvs": [ "NG_009382.2:g.253712A>G", "LRG_202:g.253712A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3871, "referenceAllele": "A", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.6:c.3871A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS824863" }, { "coordinates": [ { "allele": "G", "end": 2161, "referenceAllele": "A", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000688578.1:c.2161A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831701" }, { "coordinates": [ { "allele": "G", "end": 1381, "referenceAllele": "A", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000689642.1:n.1381A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832278" }, { "coordinates": [ { "allele": "G", "end": 7267, "referenceAllele": "A", "start": 7266 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000690043.1:c.7267A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832505" }, { "coordinates": [ { "allele": "G", "end": 3453, "referenceAllele": "A", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000693000.1:n.3453A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834010" }, { "coordinates": [ { "allele": "G", "end": 25754, "referenceAllele": "A", "start": 25753 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.8:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000380505.3:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753632", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.25562A>G" }, "RefSeq": { "hgvs": "NM_001164508.2:c.25562A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Tyr8521Cys" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Tyr8521Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 25754, "referenceAllele": "A", "start": 25753 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.7:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000416578.2:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS755169", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.25562A>G" }, "RefSeq": { "hgvs": "NM_001164507.2:c.25562A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Tyr8521Cys" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Tyr8521Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 20197, "referenceAllele": "A", "start": 20196 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000172853.14:c.19994A>G" ], "proteinEffect": { "hgvs": "ENSP00000172853.10:p.Tyr6665Cys", "hgvsWellDefined": "ENSP00000172853.10:p.Tyr6665Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247675" }, { "coordinates": [ { "allele": "G", "end": 1963, "referenceAllele": "A", "start": 1962 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397337.6:c.1963A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS277747" }, { "coordinates": [ { "allele": "G", "end": 25765, "referenceAllele": "A", "start": 25764 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.7:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000380505.3:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "G", "end": 20197, "referenceAllele": "A", "start": 20196 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.19994A>G" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:p.Tyr6665Cys", "hgvsWellDefined": "ENSP00000386259.1:p.Tyr6665Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "G", "end": 9008, "referenceAllele": "A", "start": 9007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.9008A>G" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:p.Tyr3003Cys", "hgvsWellDefined": "ENSP00000410961.1:p.Tyr3003Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "G", "end": 25765, "referenceAllele": "A", "start": 25764 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.6:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000416578.2:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "G", "end": 2284, "referenceAllele": "A", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.2284A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "C", "end": 2655, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 2655, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000454583.6:c.2655+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS302632" }, { "coordinates": [ { "allele": "G", "end": 25562, "referenceAllele": "A", "start": 25561 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000473894.1:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "G", "end": 25562, "referenceAllele": "A", "start": 25561 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.25562A>G" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Tyr8521Cys", "hgvsWellDefined": "ENSP00000474498.1:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "G", "end": 25870, "referenceAllele": "A", "start": 25869 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.25667A>G" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Tyr8556Cys", "hgvsWellDefined": "ENSP00000484342.1:p.Tyr8556Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "G", "end": 25765, "referenceAllele": "A", "start": 25764 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.25562A>G" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Tyr8521Cys", "hgvsWellDefined": "NP_001157979.1:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "G", "end": 25765, "referenceAllele": "A", "start": 25764 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.25562A>G" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Tyr8521Cys", "hgvsWellDefined": "NP_001157980.1:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "coordinates": [ { "allele": "G", "end": 25870, "referenceAllele": "A", "start": 25869 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.25667A>G", "LRG_202t1:c.25667A>G" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Tyr8556Cys", "hgvsWellDefined": "NP_001258137.1:p.Tyr8556Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "G", "end": 20197, "referenceAllele": "A", "start": 20196 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.19994A>G" ], "proteinEffect": { "hgvs": "NP_004534.2:p.Tyr6665Cys", "hgvsWellDefined": "NP_004534.2:p.Tyr6665Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246647.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246648.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246649.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246650.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246651.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246652.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246653.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246654.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246655.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "G", "end": 25473, "referenceAllele": "A", "start": 25472 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.25283A>G" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Tyr8428Cys", "hgvsWellDefined": "XP_005246656.1:p.Tyr8428Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "G", "end": 25473, "referenceAllele": "A", "start": 25472 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.25283A>G" ], "proteinEffect": { "hgvs": "XP_005246657.1:p.Tyr8428Cys", "hgvsWellDefined": "XP_005246657.1:p.Tyr8428Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057696" }, { "coordinates": [ { "allele": "G", "end": 25380, "referenceAllele": "A", "start": 25379 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.1:c.25190A>G" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Tyr8397Cys", "hgvsWellDefined": "XP_005246658.1:p.Tyr8397Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057697" }, { "coordinates": [ { "allele": "G", "end": 25380, "referenceAllele": "A", "start": 25379 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.1:c.25190A>G" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Tyr8397Cys", "hgvsWellDefined": "XP_005246659.1:p.Tyr8397Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057698" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246660.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057699" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246661.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057700" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246663.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057701" }, { "coordinates": [ { "allele": "G", "end": 25194, "referenceAllele": "A", "start": 25193 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.1:c.25004A>G" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Tyr8335Cys", "hgvsWellDefined": "XP_005246665.1:p.Tyr8335Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057702" }, { "coordinates": [ { "allele": "G", "end": 25101, "referenceAllele": "A", "start": 25100 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.1:c.24911A>G" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Tyr8304Cys", "hgvsWellDefined": "XP_005246667.1:p.Tyr8304Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "G", "end": 25101, "referenceAllele": "A", "start": 25100 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.24911A>G" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Tyr8304Cys", "hgvsWellDefined": "XP_005246668.1:p.Tyr8304Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "G", "end": 25023, "referenceAllele": "A", "start": 25022 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.24833A>G" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Tyr8278Cys", "hgvsWellDefined": "XP_005246669.1:p.Tyr8278Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "G", "end": 25023, "referenceAllele": "A", "start": 25022 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.24833A>G" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Tyr8278Cys", "hgvsWellDefined": "XP_005246670.1:p.Tyr8278Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_005246672.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "G", "end": 22836, "referenceAllele": "A", "start": 22835 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.22646A>G" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Tyr7549Cys", "hgvsWellDefined": "XP_005246674.1:p.Tyr7549Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_006712604.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_006712605.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_011509526.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_011509527.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "G", "end": 23565, "referenceAllele": "A", "start": 23564 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.23375A>G" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Tyr7792Cys", "hgvsWellDefined": "XP_011509528.1:p.Tyr7792Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "G", "end": 21378, "referenceAllele": "A", "start": 21377 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.21188A>G" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Tyr7063Cys", "hgvsWellDefined": "XP_011509529.1:p.Tyr7063Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922954.1:n.7838+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120016" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7838+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922956.1:n.7838+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120018" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922957.1:n.7838+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120019" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246647.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246648.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246649.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532633" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.2:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246650.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532634" }, { "coordinates": [ { "allele": "G", "end": 25659, "referenceAllele": "A", "start": 25658 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.2:c.25469A>G" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Tyr8490Cys", "hgvsWellDefined": "XP_005246651.1:p.Tyr8490Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532635" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.2:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246653.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532636" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.2:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246654.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532637" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.2:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_005246655.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532638" }, { "coordinates": [ { "allele": "G", "end": 25473, "referenceAllele": "A", "start": 25472 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.2:c.25283A>G" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Tyr8428Cys", "hgvsWellDefined": "XP_005246656.1:p.Tyr8428Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532639" }, { "coordinates": [ { "allele": "G", "end": 25380, "referenceAllele": "A", "start": 25379 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.2:c.25190A>G" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Tyr8397Cys", "hgvsWellDefined": "XP_005246658.1:p.Tyr8397Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532640" }, { "coordinates": [ { "allele": "G", "end": 25380, "referenceAllele": "A", "start": 25379 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.2:c.25190A>G" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Tyr8397Cys", "hgvsWellDefined": "XP_005246659.1:p.Tyr8397Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532641" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.2:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246660.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532642" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.2:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246661.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532643" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.2:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_005246663.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532644" }, { "coordinates": [ { "allele": "G", "end": 25194, "referenceAllele": "A", "start": 25193 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.2:c.25004A>G" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Tyr8335Cys", "hgvsWellDefined": "XP_005246665.1:p.Tyr8335Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "G", "end": 25101, "referenceAllele": "A", "start": 25100 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.24911A>G" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Tyr8304Cys", "hgvsWellDefined": "XP_005246667.1:p.Tyr8304Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "G", "end": 25101, "referenceAllele": "A", "start": 25100 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.24911A>G" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Tyr8304Cys", "hgvsWellDefined": "XP_005246668.1:p.Tyr8304Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "G", "end": 25023, "referenceAllele": "A", "start": 25022 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.24833A>G" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Tyr8278Cys", "hgvsWellDefined": "XP_005246669.1:p.Tyr8278Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "G", "end": 25023, "referenceAllele": "A", "start": 25022 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.24833A>G" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Tyr8278Cys", "hgvsWellDefined": "XP_005246670.1:p.Tyr8278Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_005246672.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "G", "end": 22836, "referenceAllele": "A", "start": 22835 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.22646A>G" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Tyr7549Cys", "hgvsWellDefined": "XP_005246674.1:p.Tyr7549Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_006712604.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_006712605.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_011509527.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "G", "end": 23565, "referenceAllele": "A", "start": 23564 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.23375A>G" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Tyr7792Cys", "hgvsWellDefined": "XP_011509528.1:p.Tyr7792Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "G", "end": 21378, "referenceAllele": "A", "start": 21377 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.21188A>G" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Tyr7063Cys", "hgvsWellDefined": "XP_011509529.1:p.Tyr7063Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "G", "end": 25641, "referenceAllele": "A", "start": 25640 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.25451A>G" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Tyr8484Cys", "hgvsWellDefined": "XP_016859666.1:p.Tyr8484Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "G", "end": 25566, "referenceAllele": "A", "start": 25565 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.25376A>G" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Tyr8459Cys", "hgvsWellDefined": "XP_016859667.1:p.Tyr8459Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_016859668.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "G", "end": 25287, "referenceAllele": "A", "start": 25286 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.25097A>G" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Tyr8366Cys", "hgvsWellDefined": "XP_016859669.1:p.Tyr8366Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559758" }, { "coordinates": [ { "allele": "G", "end": 25194, "referenceAllele": "A", "start": 25193 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004181.1:c.25004A>G" ], "proteinEffect": { "hgvs": "XP_016859670.1:p.Tyr8335Cys", "hgvsWellDefined": "XP_016859670.1:p.Tyr8335Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559759" }, { "coordinates": [ { "allele": "G", "end": 25101, "referenceAllele": "A", "start": 25100 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004182.1:c.24911A>G" ], "proteinEffect": { "hgvs": "XP_016859671.1:p.Tyr8304Cys", "hgvsWellDefined": "XP_016859671.1:p.Tyr8304Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559760" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004183.1:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_016859672.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_016859672.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559761" }, { "coordinates": [ { "allele": "G", "end": 25008, "referenceAllele": "A", "start": 25007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004184.1:c.24818A>G" ], "proteinEffect": { "hgvs": "XP_016859673.1:p.Tyr8273Cys", "hgvsWellDefined": "XP_016859673.1:p.Tyr8273Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559762" }, { "coordinates": [ { "allele": "G", "end": 24729, "referenceAllele": "A", "start": 24728 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004185.1:c.24539A>G" ], "proteinEffect": { "hgvs": "XP_016859674.1:p.Tyr8180Cys", "hgvsWellDefined": "XP_016859674.1:p.Tyr8180Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS559763" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738811.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589261" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738812.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589262" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738813.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589263" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738814.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589264" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738815.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589265" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738816.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589266" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 2441, "referenceAllele": "T", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 2440 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8213+2441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "coordinates": [ { "allele": "G", "end": 25859, "referenceAllele": "A", "start": 25858 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.25667A>G" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Tyr8556Cys", "hgvsWellDefined": "NP_001258137.2:p.Tyr8556Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "@id": "http://reg.genome.network/allele/PA3067858377", "coordinates": [ { "allele": "G", "end": 20186, "referenceAllele": "A", "start": 20185 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.19994A>G" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Tyr6665Cys", "hgvsWellDefined": "NP_004534.3:p.Tyr6665Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "coordinates": [ { "allele": "G", "end": 25754, "referenceAllele": "A", "start": 25753 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.25562A>G" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Tyr8521Cys", "hgvsWellDefined": "NP_001157979.2:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.25562A>G" }, "RefSeq": { "hgvs": "NM_001164507.2:c.25562A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Tyr8521Cys" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Tyr8521Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 25754, "referenceAllele": "A", "start": 25753 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.25562A>G" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Tyr8521Cys", "hgvsWellDefined": "NP_001157980.2:p.Tyr8521Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.25562A>G" }, "RefSeq": { "hgvs": "NM_001164508.2:c.25562A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Tyr8521Cys" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Tyr8521Cys" } } } } ], "type": "nucleotide" }