{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA595037", "communityStandardTitle": [ "NM_001010881.2(C1orf167):c.3572G>A (p.Arg1191His)", "NM_005957.5(MTHFR):c.*3288C>T" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4599050" }, { "active": false, "id": "COSM4599051" } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-11847449-G-A", "id": "1-11847449-G-A", "variant": "1:11847449 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11847449G>A?assembly=hg19", "id": "chr1:g.11847449G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11787392G>A?assembly=hg38", "id": "chr1:g.11787392G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3737967", "rs": 3737967 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11847449-G-A?dataset=gnomad_r2_1", "id": "1-11847449-G-A", "variant": "1:11847449 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11787392-G-A?dataset=gnomad_r3", "id": "1-11787392-G-A", "variant": "1:11787392 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11787392-G-A?dataset=gnomad_r4", "id": "1-11787392-G-A", "variant": "1:11787392 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11787392, "referenceAllele": "G", "start": 11787391 } ], "hgvs": [ "NC_000001.11:g.11787392G>A", "CM000663.2:g.11787392G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11847449, "referenceAllele": "G", "start": 11847448 } ], "hgvs": [ "NC_000001.10:g.11847449G>A", "CM000663.1:g.11847449G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11770036, "referenceAllele": "G", "start": 11770035 } ], "hgvs": [ "NC_000001.9:g.11770036G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 23712, "referenceAllele": "C", "start": 23711 } ], "hgvs": [ "NG_013351.1:g.23712C>T", "LRG_726:g.23712C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002803" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000433342.6:c.3086G>A" ], "proteinEffect": { "hgvs": "ENSP00000414909.3:p.Arg1029His", "hgvsWellDefined": "ENSP00000414909.3:p.Arg1029His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824853" }, { "coordinates": [ { "allele": "A", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000688073.1:c.3572G>A" ], "proteinEffect": { "hgvs": "ENSP00000510540.1:p.Arg1191His", "hgvsWellDefined": "ENSP00000510540.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS831427", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000688073.1:c.3572G>A" }, "RefSeq": { "hgvs": "NM_001010881.2:c.3572G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000510540.1:p.Arg1191His" }, "RefSeq": { "hgvs": "NP_001010881.1:p.Arg1191His" } } } }, { "coordinates": [ { "allele": "T", "end": 6434, "referenceAllele": "C", "start": 6433 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.6:c.*3288C>T" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS751786" }, { "coordinates": [ { "allele": "T", "end": 5349, "referenceAllele": "C", "start": 5348 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.9:c.*3288C>T" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS751788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.*3288C>T" }, "RefSeq": { "hgvs": "NM_005957.5:c.*3288C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:n.*3288C>T" }, "RefSeq": { "hgvs": "NP_005948.3:n.*3288C>T" } } } }, { "coordinates": [ { "allele": "T", "end": 6709, "referenceAllele": "C", "start": 6708 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.6:c.*3288C>T" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS751789" }, { "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "G", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000312793.9:c.1722G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS256726" }, { "coordinates": [ { "allele": "T", "end": 5382, "referenceAllele": "C", "start": 5381 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376583.7:c.5382C>T" ], "proteinEffect": { "hgvs": "ENSP00000365767.3:n.5382C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "T", "end": 5443, "referenceAllele": "C", "start": 5442 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.*3288C>T" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "T", "end": 5388, "referenceAllele": "C", "start": 5387 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.*3288C>T" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000433342.5:c.3644G>A" ], "proteinEffect": { "hgvs": "ENSP00000414909.2:p.Arg1215His", "hgvsWellDefined": "ENSP00000414909.2:p.Arg1215His" }, "referenceSequence": "http://reg.genome.network/refseq/RS292491" }, { "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000444493.5:c.1071G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS297838" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000449278.1:c.901G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS300134" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "ENST00000475041.1:n.124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316409" }, { "@id": "http://reg.genome.network/allele/PA915956273", "coordinates": [ { "allele": "A", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "NM_001010881.1:c.3572G>A" ], "proteinEffect": { "hgvs": "NP_001010881.1:p.Arg1191His", "hgvsWellDefined": "NP_001010881.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS008166" }, { "coordinates": [ { "allele": "T", "end": 5488, "referenceAllele": "C", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.*3288C>T", "LRG_726t1:c.*3288C>T" ], "proteinEffect": { "hgvs": "NP_005948.3:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "A", "end": 3765, "referenceAllele": "G", "start": 3764 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_006711078.2:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_006711141.1:p.Arg1191His", "hgvsWellDefined": "XP_006711141.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS068955" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541267.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539569.1:p.Arg1236His", "hgvsWellDefined": "XP_011539569.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108209" }, { "coordinates": [ { "allele": "A", "end": 3994, "referenceAllele": "G", "start": 3993 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541268.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539570.1:p.Arg1236His", "hgvsWellDefined": "XP_011539570.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108210" }, { "coordinates": [ { "allele": "A", "end": 3996, "referenceAllele": "G", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541269.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539571.1:p.Arg1236His", "hgvsWellDefined": "XP_011539571.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108211" }, { "coordinates": [ { "allele": "A", "end": 3847, "referenceAllele": "G", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541270.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539572.1:p.Arg1236His", "hgvsWellDefined": "XP_011539572.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108212" }, { "coordinates": [ { "allele": "A", "end": 3802, "referenceAllele": "G", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541271.1:c.3653G>A" ], "proteinEffect": { "hgvs": "XP_011539573.1:p.Arg1218His", "hgvsWellDefined": "XP_011539573.1:p.Arg1218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108213" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541272.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539574.1:p.Arg1236His", "hgvsWellDefined": "XP_011539574.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108214" }, { "coordinates": [ { "allele": "A", "end": 3785, "referenceAllele": "G", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541273.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_011539575.1:p.Arg1191His", "hgvsWellDefined": "XP_011539575.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108215" }, { "coordinates": [ { "allele": "A", "end": 3868, "referenceAllele": "G", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541274.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_011539576.1:p.Arg1191His", "hgvsWellDefined": "XP_011539576.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108216" }, { "coordinates": [ { "allele": "A", "end": 3664, "referenceAllele": "G", "start": 3663 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541275.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_011539577.1:p.Arg1191His", "hgvsWellDefined": "XP_011539577.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108217" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541276.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539578.1:p.Arg1236His", "hgvsWellDefined": "XP_011539578.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108218" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541277.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539579.1:p.Arg1236His", "hgvsWellDefined": "XP_011539579.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108219" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541278.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539580.1:p.Arg1236His", "hgvsWellDefined": "XP_011539580.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108220" }, { "coordinates": [ { "allele": "A", "end": 3448, "referenceAllele": "G", "start": 3447 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541279.1:c.3299G>A" ], "proteinEffect": { "hgvs": "XP_011539581.1:p.Arg1100His", "hgvsWellDefined": "XP_011539581.1:p.Arg1100His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108221" }, { "coordinates": [ { "allele": "A", "end": 2095, "referenceAllele": "G", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541280.1:c.1988G>A" ], "proteinEffect": { "hgvs": "XP_011539582.1:p.Arg663His", "hgvsWellDefined": "XP_011539582.1:p.Arg663His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108222" }, { "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "G", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541281.1:c.1988G>A" ], "proteinEffect": { "hgvs": "XP_011539583.1:p.Arg663His", "hgvsWellDefined": "XP_011539583.1:p.Arg663His" }, "referenceSequence": "http://reg.genome.network/refseq/RS108223" }, { "coordinates": [ { "allele": "T", "end": 5545, "referenceAllele": "C", "start": 5544 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.*3288C>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "A", "end": 3851, "referenceAllele": "G", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541272.3:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539574.1:p.Arg1236His", "hgvsWellDefined": "XP_011539574.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS554372" }, { "coordinates": [ { "allele": "A", "end": 3851, "referenceAllele": "G", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541276.3:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539578.1:p.Arg1236His", "hgvsWellDefined": "XP_011539578.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS554373" }, { "coordinates": [ { "allele": "A", "end": 3851, "referenceAllele": "G", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541277.3:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539579.1:p.Arg1236His", "hgvsWellDefined": "XP_011539579.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS554374" }, { "coordinates": [ { "allele": "A", "end": 3851, "referenceAllele": "G", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_011541278.2:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_011539580.1:p.Arg1236His", "hgvsWellDefined": "XP_011539580.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS554375" }, { "coordinates": [ { "allele": "A", "end": 3851, "referenceAllele": "G", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446506.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_024302274.1:p.Arg1236His", "hgvsWellDefined": "XP_024302274.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580167" }, { "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446507.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_024302275.1:p.Arg1236His", "hgvsWellDefined": "XP_024302275.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580168" }, { "coordinates": [ { "allele": "A", "end": 4002, "referenceAllele": "G", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446508.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_024302276.1:p.Arg1236His", "hgvsWellDefined": "XP_024302276.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580169" }, { "coordinates": [ { "allele": "A", "end": 3842, "referenceAllele": "G", "start": 3841 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446509.1:c.3707G>A" ], "proteinEffect": { "hgvs": "XP_024302277.1:p.Arg1236His", "hgvsWellDefined": "XP_024302277.1:p.Arg1236His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580170" }, { "coordinates": [ { "allele": "A", "end": 3797, "referenceAllele": "G", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446512.1:c.3653G>A" ], "proteinEffect": { "hgvs": "XP_024302280.1:p.Arg1218His", "hgvsWellDefined": "XP_024302280.1:p.Arg1218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580173" }, { "coordinates": [ { "allele": "A", "end": 3760, "referenceAllele": "G", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446514.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_024302282.1:p.Arg1191His", "hgvsWellDefined": "XP_024302282.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580175" }, { "coordinates": [ { "allele": "A", "end": 3870, "referenceAllele": "G", "start": 3869 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446515.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_024302283.1:p.Arg1191His", "hgvsWellDefined": "XP_024302283.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580176" }, { "coordinates": [ { "allele": "A", "end": 3666, "referenceAllele": "G", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446517.1:c.3572G>A" ], "proteinEffect": { "hgvs": "XP_024302285.1:p.Arg1191His", "hgvsWellDefined": "XP_024302285.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580178" }, { "coordinates": [ { "allele": "A", "end": 2109, "referenceAllele": "G", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "XM_024446518.1:c.1988G>A" ], "proteinEffect": { "hgvs": "XP_024302286.1:p.Arg663His", "hgvsWellDefined": "XP_024302286.1:p.Arg663His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580179" }, { "@id": "http://reg.genome.network/allele/PA915956273", "coordinates": [ { "allele": "A", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN025262", "geneNCBI_id": 284498, "geneSymbol": "C1orf167", "hgvs": [ "NM_001010881.2:c.3572G>A" ], "proteinEffect": { "hgvs": "NP_001010881.1:p.Arg1191His", "hgvsWellDefined": "NP_001010881.1:p.Arg1191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675375", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000688073.1:c.3572G>A" }, "RefSeq": { "hgvs": "NM_001010881.2:c.3572G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000510540.1:p.Arg1191His" }, "RefSeq": { "hgvs": "NP_001010881.1:p.Arg1191His" } } } }, { "coordinates": [ { "allele": "T", "end": 5349, "referenceAllele": "C", "start": 5348 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.*3288C>T" ], "proteinEffect": { "hgvs": "NP_005948.3:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.*3288C>T" }, "RefSeq": { "hgvs": "NM_005957.5:c.*3288C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:n.*3288C>T" }, "RefSeq": { "hgvs": "NP_005948.3:n.*3288C>T" } } } }, { "coordinates": [ { "allele": "T", "end": 5405, "referenceAllele": "C", "start": 5404 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.*3288C>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:n.*3288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }