{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1905787", "communityStandardTitle": [ "NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557577[alleleid]", "alleleId": 557577, "preferredName": "NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566656", "RCV": [ "RCV000686525", "RCV002493148", "RCV003133508" ], "variationId": 566656 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-152347011-C-T", "id": "2-152347011-C-T", "variant": "2:152347011 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152347011C>T?assembly=hg19", "id": "chr2:g.152347011C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.151490497C>T?assembly=hg38", "id": "chr2:g.151490497C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749034995", "rs": 749034995 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-152347011-C-T?dataset=gnomad_r2_1", "id": "2-152347011-C-T", "variant": "2:152347011 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151490497-C-T?dataset=gnomad_r3", "id": "2-151490497-C-T", "variant": "2:151490497 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151490497-C-T?dataset=gnomad_r4", "id": "2-151490497-C-T", "variant": "2:151490497 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 151490497, "referenceAllele": "C", "start": 151490496 } ], "hgvs": [ "NC_000002.12:g.151490497C>T", "CM000664.2:g.151490497C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 152347011, "referenceAllele": "C", "start": 152347010 } ], "hgvs": [ "NC_000002.11:g.152347011C>T", "CM000664.1:g.152347011C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 152055257, "referenceAllele": "C", "start": 152055256 } ], "hgvs": [ "NC_000002.10:g.152055257C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 248991, "referenceAllele": "G", "start": 248990 } ], "hgvs": [ "NG_009382.2:g.248991G>A", "LRG_202:g.248991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3481, "referenceAllele": "G", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.6:c.3481G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824863" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000688578.1:c.1771G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831701" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000689642.1:n.991G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832278" }, { "coordinates": [ { "allele": "A", "end": 6877, "referenceAllele": "G", "start": 6876 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000690043.1:c.6877G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832505" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "G", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000693000.1:n.3063G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834010" }, { "coordinates": [ { "allele": "A", "end": 25364, "referenceAllele": "G", "start": 25363 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.8:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000380505.3:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS753632", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.25172G>A" }, "RefSeq": { "hgvs": "NM_001164508.2:c.25172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Arg8391Gln" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Arg8391Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 25364, "referenceAllele": "G", "start": 25363 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.7:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000416578.2:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS755169", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.25172G>A" }, "RefSeq": { "hgvs": "NM_001164507.2:c.25172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Arg8391Gln" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Arg8391Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 19807, "referenceAllele": "G", "start": 19806 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000172853.14:c.19604G>A" ], "proteinEffect": { "hgvs": "ENSP00000172853.10:p.Arg6535Gln", "hgvsWellDefined": "ENSP00000172853.10:p.Arg6535Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247675" }, { "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397337.6:c.1573G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS277747" }, { "coordinates": [ { "allele": "A", "end": 25375, "referenceAllele": "G", "start": 25374 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.7:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000380505.3:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "A", "end": 19807, "referenceAllele": "G", "start": 19806 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.19604G>A" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:p.Arg6535Gln", "hgvsWellDefined": "ENSP00000386259.1:p.Arg6535Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "A", "end": 8618, "referenceAllele": "G", "start": 8617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.8618G>A" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:p.Arg2873Gln", "hgvsWellDefined": "ENSP00000410961.1:p.Arg2873Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "A", "end": 25375, "referenceAllele": "G", "start": 25374 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.6:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000416578.2:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "G", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.1894G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "T", "end": 2655, "endIntronDirection": "-", "endIntronOffset": 4731, "referenceAllele": "C", "start": 2655, "startIntronDirection": "-", "startIntronOffset": 4732 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000454583.6:c.2656-4732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS302632" }, { "coordinates": [ { "allele": "T", "end": 480, "endIntronDirection": "+", "endIntronOffset": 3741, "referenceAllele": "C", "start": 480, "startIntronDirection": "+", "startIntronOffset": 3740 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000457745.1:n.480+3741C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304086" }, { "coordinates": [ { "allele": "A", "end": 25172, "referenceAllele": "G", "start": 25171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000473894.1:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "A", "end": 25172, "referenceAllele": "G", "start": 25171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.25172G>A" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Arg8391Gln", "hgvsWellDefined": "ENSP00000474498.1:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "A", "end": 25480, "referenceAllele": "G", "start": 25479 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.25277G>A" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Arg8426Gln", "hgvsWellDefined": "ENSP00000484342.1:p.Arg8426Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "A", "end": 25375, "referenceAllele": "G", "start": 25374 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.25172G>A" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Arg8391Gln", "hgvsWellDefined": "NP_001157979.1:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "A", "end": 25375, "referenceAllele": "G", "start": 25374 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.25172G>A" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Arg8391Gln", "hgvsWellDefined": "NP_001157980.1:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "@id": "http://reg.genome.network/allele/PA891861261", "coordinates": [ { "allele": "A", "end": 25480, "referenceAllele": "G", "start": 25479 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.25277G>A", "LRG_202t1:c.25277G>A" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Arg8426Gln", "hgvsWellDefined": "NP_001258137.1:p.Arg8426Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "A", "end": 19807, "referenceAllele": "G", "start": 19806 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.19604G>A" ], "proteinEffect": { "hgvs": "NP_004534.2:p.Arg6535Gln", "hgvsWellDefined": "NP_004534.2:p.Arg6535Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246647.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246648.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246649.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246650.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246651.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246652.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246653.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246654.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246655.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "A", "end": 25083, "referenceAllele": "G", "start": 25082 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.24893G>A" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Arg8298Gln", "hgvsWellDefined": "XP_005246656.1:p.Arg8298Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "A", "end": 25083, "referenceAllele": "G", "start": 25082 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.24893G>A" ], "proteinEffect": { "hgvs": "XP_005246657.1:p.Arg8298Gln", "hgvsWellDefined": "XP_005246657.1:p.Arg8298Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057696" }, { "coordinates": [ { "allele": "A", "end": 24990, "referenceAllele": "G", "start": 24989 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.1:c.24800G>A" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Arg8267Gln", "hgvsWellDefined": "XP_005246658.1:p.Arg8267Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057697" }, { "coordinates": [ { "allele": "A", "end": 24990, "referenceAllele": "G", "start": 24989 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.1:c.24800G>A" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Arg8267Gln", "hgvsWellDefined": "XP_005246659.1:p.Arg8267Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057698" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246660.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057699" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246661.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057700" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246663.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057701" }, { "coordinates": [ { "allele": "A", "end": 24804, "referenceAllele": "G", "start": 24803 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.1:c.24614G>A" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Arg8205Gln", "hgvsWellDefined": "XP_005246665.1:p.Arg8205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057702" }, { "coordinates": [ { "allele": "A", "end": 24711, "referenceAllele": "G", "start": 24710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.1:c.24521G>A" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Arg8174Gln", "hgvsWellDefined": "XP_005246667.1:p.Arg8174Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "A", "end": 24711, "referenceAllele": "G", "start": 24710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.24521G>A" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Arg8174Gln", "hgvsWellDefined": "XP_005246668.1:p.Arg8174Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "A", "end": 24633, "referenceAllele": "G", "start": 24632 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.24443G>A" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Arg8148Gln", "hgvsWellDefined": "XP_005246669.1:p.Arg8148Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "A", "end": 24633, "referenceAllele": "G", "start": 24632 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.24443G>A" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Arg8148Gln", "hgvsWellDefined": "XP_005246670.1:p.Arg8148Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Arg8143Gln", "hgvsWellDefined": "XP_005246672.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "A", "end": 22446, "referenceAllele": "G", "start": 22445 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.22256G>A" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Arg7419Gln", "hgvsWellDefined": "XP_005246674.1:p.Arg7419Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Arg8236Gln", "hgvsWellDefined": "XP_006712604.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Arg8236Gln", "hgvsWellDefined": "XP_006712605.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Arg8360Gln", "hgvsWellDefined": "XP_011509526.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Arg8143Gln", "hgvsWellDefined": "XP_011509527.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "A", "end": 23175, "referenceAllele": "G", "start": 23174 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.22985G>A" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Arg7662Gln", "hgvsWellDefined": "XP_011509528.1:p.Arg7662Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "A", "end": 20988, "referenceAllele": "G", "start": 20987 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.20798G>A" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Arg6933Gln", "hgvsWellDefined": "XP_011509529.1:p.Arg6933Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "T", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 4731, "referenceAllele": "C", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 4732 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922954.1:n.7839-4732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120016" }, { "coordinates": [ { "allele": "T", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7838+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "T", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 4731, "referenceAllele": "C", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 4732 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922956.1:n.7839-4732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120018" }, { "coordinates": [ { "allele": "T", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922957.1:n.7838+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120019" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246647.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246648.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246649.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532633" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.2:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246650.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532634" }, { "coordinates": [ { "allele": "A", "end": 25269, "referenceAllele": "G", "start": 25268 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.2:c.25079G>A" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Arg8360Gln", "hgvsWellDefined": "XP_005246651.1:p.Arg8360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532635" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.2:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246653.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532636" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.2:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246654.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532637" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.2:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Arg8329Gln", "hgvsWellDefined": "XP_005246655.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532638" }, { "coordinates": [ { "allele": "A", "end": 25083, "referenceAllele": "G", "start": 25082 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.2:c.24893G>A" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Arg8298Gln", "hgvsWellDefined": "XP_005246656.1:p.Arg8298Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532639" }, { "coordinates": [ { "allele": "A", "end": 24990, "referenceAllele": "G", "start": 24989 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.2:c.24800G>A" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Arg8267Gln", "hgvsWellDefined": "XP_005246658.1:p.Arg8267Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532640" }, { "coordinates": [ { "allele": "A", "end": 24990, "referenceAllele": "G", "start": 24989 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.2:c.24800G>A" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Arg8267Gln", "hgvsWellDefined": "XP_005246659.1:p.Arg8267Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532641" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.2:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246660.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532642" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.2:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246661.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532643" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.2:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Arg8236Gln", "hgvsWellDefined": "XP_005246663.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532644" }, { "coordinates": [ { "allele": "A", "end": 24804, "referenceAllele": "G", "start": 24803 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.2:c.24614G>A" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Arg8205Gln", "hgvsWellDefined": "XP_005246665.1:p.Arg8205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "A", "end": 24711, "referenceAllele": "G", "start": 24710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.24521G>A" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Arg8174Gln", "hgvsWellDefined": "XP_005246667.1:p.Arg8174Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "A", "end": 24711, "referenceAllele": "G", "start": 24710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.24521G>A" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Arg8174Gln", "hgvsWellDefined": "XP_005246668.1:p.Arg8174Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "A", "end": 24633, "referenceAllele": "G", "start": 24632 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.24443G>A" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Arg8148Gln", "hgvsWellDefined": "XP_005246669.1:p.Arg8148Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "A", "end": 24633, "referenceAllele": "G", "start": 24632 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.24443G>A" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Arg8148Gln", "hgvsWellDefined": "XP_005246670.1:p.Arg8148Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Arg8143Gln", "hgvsWellDefined": "XP_005246672.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "A", "end": 22446, "referenceAllele": "G", "start": 22445 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.22256G>A" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Arg7419Gln", "hgvsWellDefined": "XP_005246674.1:p.Arg7419Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Arg8236Gln", "hgvsWellDefined": "XP_006712604.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Arg8236Gln", "hgvsWellDefined": "XP_006712605.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Arg8143Gln", "hgvsWellDefined": "XP_011509527.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "A", "end": 23175, "referenceAllele": "G", "start": 23174 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.22985G>A" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Arg7662Gln", "hgvsWellDefined": "XP_011509528.1:p.Arg7662Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "A", "end": 20988, "referenceAllele": "G", "start": 20987 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.20798G>A" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Arg6933Gln", "hgvsWellDefined": "XP_011509529.1:p.Arg6933Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "A", "end": 25251, "referenceAllele": "G", "start": 25250 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.25061G>A" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Arg8354Gln", "hgvsWellDefined": "XP_016859666.1:p.Arg8354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "A", "end": 25176, "referenceAllele": "G", "start": 25175 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.24986G>A" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Arg8329Gln", "hgvsWellDefined": "XP_016859667.1:p.Arg8329Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Arg8236Gln", "hgvsWellDefined": "XP_016859668.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "A", "end": 24897, "referenceAllele": "G", "start": 24896 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.24707G>A" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Arg8236Gln", "hgvsWellDefined": "XP_016859669.1:p.Arg8236Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559758" }, { "coordinates": [ { "allele": "A", "end": 24804, "referenceAllele": "G", "start": 24803 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004181.1:c.24614G>A" ], "proteinEffect": { "hgvs": "XP_016859670.1:p.Arg8205Gln", "hgvsWellDefined": "XP_016859670.1:p.Arg8205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559759" }, { "coordinates": [ { "allele": "A", "end": 24711, "referenceAllele": "G", "start": 24710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004182.1:c.24521G>A" ], "proteinEffect": { "hgvs": "XP_016859671.1:p.Arg8174Gln", "hgvsWellDefined": "XP_016859671.1:p.Arg8174Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559760" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004183.1:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_016859672.1:p.Arg8143Gln", "hgvsWellDefined": "XP_016859672.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559761" }, { "coordinates": [ { "allele": "A", "end": 24618, "referenceAllele": "G", "start": 24617 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004184.1:c.24428G>A" ], "proteinEffect": { "hgvs": "XP_016859673.1:p.Arg8143Gln", "hgvsWellDefined": "XP_016859673.1:p.Arg8143Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559762" }, { "coordinates": [ { "allele": "A", "end": 24339, "referenceAllele": "G", "start": 24338 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004185.1:c.24149G>A" ], "proteinEffect": { "hgvs": "XP_016859674.1:p.Arg8050Gln", "hgvsWellDefined": "XP_016859674.1:p.Arg8050Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS559763" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "-", "endIntronOffset": 4731, "referenceAllele": "C", "start": 8213, "startIntronDirection": "-", "startIntronOffset": 4732 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738811.2:n.8214-4732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589261" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "-", "endIntronOffset": 4731, "referenceAllele": "C", "start": 8213, "startIntronDirection": "-", "startIntronOffset": 4732 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738812.2:n.8214-4732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589262" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738813.2:n.8213+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589263" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738814.2:n.8213+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589264" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738815.2:n.8213+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589265" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738816.2:n.8213+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589266" }, { "coordinates": [ { "allele": "T", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 7162, "referenceAllele": "C", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 7161 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8213+7162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "@id": "http://reg.genome.network/allele/PA916004679", "coordinates": [ { "allele": "A", "end": 25469, "referenceAllele": "G", "start": 25468 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.25277G>A" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Arg8426Gln", "hgvsWellDefined": "NP_001258137.2:p.Arg8426Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "@id": "http://reg.genome.network/allele/PA2829545383", "coordinates": [ { "allele": "A", "end": 19796, "referenceAllele": "G", "start": 19795 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.19604G>A" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Arg6535Gln", "hgvsWellDefined": "NP_004534.3:p.Arg6535Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "@id": "http://reg.genome.network/allele/PA2825987097", "coordinates": [ { "allele": "A", "end": 25364, "referenceAllele": "G", "start": 25363 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.25172G>A" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Arg8391Gln", "hgvsWellDefined": "NP_001157979.2:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.25172G>A" }, "RefSeq": { "hgvs": "NM_001164507.2:c.25172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Arg8391Gln" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Arg8391Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825994052", "coordinates": [ { "allele": "A", "end": 25364, "referenceAllele": "G", "start": 25363 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.25172G>A" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Arg8391Gln", "hgvsWellDefined": "NP_001157980.2:p.Arg8391Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.25172G>A" }, "RefSeq": { "hgvs": "NM_001164508.2:c.25172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Arg8391Gln" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Arg8391Gln" } } } } ], "type": "nucleotide" }