{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6778828", "communityStandardTitle": [ "NM_052845.4(MMAB):c.562G>A (p.Val188Met)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4038571", "active": true, "id": "COSM4038571" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546842[alleleid]", "alleleId": 546842, "preferredName": "NM_052845.4(MMAB):c.562G>A (p.Val188Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551432", "RCV": [ "RCV000666491" ], "variationId": 551432 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-109998867-C-T", "id": "12-109998867-C-T", "variant": "12:109998867 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.109998867C>T?assembly=hg19", "id": "chr12:g.109998867C>T" }, { "@id": "http://myvariant.info/v1/variant/chr12:g.109998867_109998876delinsTGGCCCGGCA?assembly=hg19", "id": "chr12:g.109998867_109998876delinsTGGCCCGGCA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.109561062C>T?assembly=hg38", "id": "chr12:g.109561062C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768176676", "rs": 768176676 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-109998867-C-T?dataset=gnomad_r2_1", "id": "12-109998867-C-T", "variant": "12:109998867 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-109561062-C-T?dataset=gnomad_r3", "id": "12-109561062-C-T", "variant": "12:109561062 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-109561062-C-T?dataset=gnomad_r4", "id": "12-109561062-C-T", "variant": "12:109561062 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 109561062, "referenceAllele": "C", "start": 109561061 } ], "hgvs": [ "NC_000012.12:g.109561062C>T", "CM000674.2:g.109561062C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 109998867, "referenceAllele": "C", "start": 109998866 } ], "hgvs": [ "NC_000012.11:g.109998867C>T", "CM000674.1:g.109998867C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 108483250, "referenceAllele": "C", "start": 108483249 } ], "hgvs": [ "NC_000012.10:g.108483250C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 17436, "referenceAllele": "G", "start": 17435 } ], "hgvs": [ "NG_007096.1:g.17436G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000477" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000545712.7:c.562G>A" ], "proteinEffect": { "hgvs": "ENSP00000445920.1:p.Val188Met", "hgvsWellDefined": "ENSP00000445920.1:p.Val188Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000545712.7:c.562G>A" }, "RefSeq": { "hgvs": "NM_052845.4:c.562G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000445920.1:p.Val188Met" }, "RefSeq": { "hgvs": "NP_443077.1:p.Val188Met" } } } }, { "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000537496.5:c.*127G>A" ], "proteinEffect": { "hgvs": "ENSP00000444793.1:n.*127G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS360807" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000540016.5:c.406G>A" ], "proteinEffect": { "hgvs": "ENSP00000474582.1:p.Val136Met", "hgvsWellDefined": "ENSP00000474582.1:p.Val136Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS362174" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000541763.6:c.787G>A" ], "proteinEffect": { "hgvs": "ENSP00000474981.1:n.787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS363100" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000544051.5:c.*443G>A" ], "proteinEffect": { "hgvs": "ENSP00000438079.1:n.*443G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS364360" }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "ENST00000545712.6:c.562G>A" ], "proteinEffect": { "hgvs": "ENSP00000445920.1:p.Val188Met", "hgvsWellDefined": "ENSP00000445920.1:p.Val188Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS365243" }, { "@id": "http://reg.genome.network/allele/PA658828579", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "NM_052845.3:c.562G>A" ], "proteinEffect": { "hgvs": "NP_443077.1:p.Val188Met", "hgvsWellDefined": "NP_443077.1:p.Val188Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS039844" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "NR_038118.1:n.722G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050243" }, { "coordinates": [ { "allele": "A", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538266.1:c.407G>A" ], "proteinEffect": { "hgvs": "XP_011536568.1:p.Arg136His", "hgvsWellDefined": "XP_011536568.1:p.Arg136His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105223" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538267.1:c.407G>A" ], "proteinEffect": { "hgvs": "XP_011536569.1:p.Arg136His", "hgvsWellDefined": "XP_011536569.1:p.Arg136His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105224" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538268.1:c.289G>A" ], "proteinEffect": { "hgvs": "XP_011536570.1:p.Val97Met", "hgvsWellDefined": "XP_011536570.1:p.Val97Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS105225" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538269.1:c.286G>A" ], "proteinEffect": { "hgvs": "XP_011536571.1:p.Val96Met", "hgvsWellDefined": "XP_011536571.1:p.Val96Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS105226" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538267.3:c.407G>A" ], "proteinEffect": { "hgvs": "XP_011536569.1:p.Arg136His", "hgvsWellDefined": "XP_011536569.1:p.Arg136His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553222" }, { "coordinates": [ { "allele": "A", "end": 967, "referenceAllele": "G", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538268.2:c.289G>A" ], "proteinEffect": { "hgvs": "XP_011536570.1:p.Val97Met", "hgvsWellDefined": "XP_011536570.1:p.Val97Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS553223" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_011538269.2:c.286G>A" ], "proteinEffect": { "hgvs": "XP_011536571.1:p.Val96Met", "hgvsWellDefined": "XP_011536571.1:p.Val96Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS553224" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "XM_024448961.1:c.562G>A" ], "proteinEffect": { "hgvs": "XP_024304729.1:p.Val188Met", "hgvsWellDefined": "XP_024304729.1:p.Val188Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582526" }, { "@id": "http://reg.genome.network/allele/PA658828579", "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "NM_052845.4:c.562G>A" ], "proteinEffect": { "hgvs": "NP_443077.1:p.Val188Met", "hgvsWellDefined": "NP_443077.1:p.Val188Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS671607", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000545712.7:c.562G>A" }, "RefSeq": { "hgvs": "NM_052845.4:c.562G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000445920.1:p.Val188Met" }, "RefSeq": { "hgvs": "NP_443077.1:p.Val188Met" } } } }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN019331", "geneNCBI_id": 326625, "geneSymbol": "MMAB", "hgvs": [ "NR_038118.2:n.673G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702298" } ], "type": "nucleotide" }