{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278199", "communityStandardTitle": [ "NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36342[alleleid]", "alleleId": 36342, "preferredName": "NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25004", "RCV": [ "RCV000021923", "RCV000438885", "RCV001266904", "RCV003904859" ], "variationId": 25004 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15683529C>A?assembly=hg19", "id": "chr3:g.15683529C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15642022C>A?assembly=hg38", "id": "chr3:g.15642022C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514357", "rs": 397514357 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-15642022-C-A?dataset=gnomad_r4", "id": "3-15642022-C-A", "variant": "3:15642022 C / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15642022, "referenceAllele": "C", "start": 15642021 } ], "hgvs": [ "NC_000003.12:g.15642022C>A", "CM000665.2:g.15642022C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15683529, "referenceAllele": "C", "start": 15683528 } ], "hgvs": [ "NC_000003.11:g.15683529C>A", "CM000665.1:g.15683529C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15658533, "referenceAllele": "C", "start": 15658532 } ], "hgvs": [ "NC_000003.10:g.15658533C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 45275, "referenceAllele": "C", "start": 45274 } ], "hgvs": [ "NG_008019.1:g.45275C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000779" }, { "coordinates": [ { "allele": "A", "end": 45671, "referenceAllele": "C", "start": 45670 } ], "hgvs": [ "NG_008019.2:g.45671C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706077" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000436193.6:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000394277.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000394277.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914065" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.2:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500069.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500069.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914442" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.2:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000499944.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000499944.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914445" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.10:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000306477.6:p.Pro122Thr", "hgvsWellDefined": "ENSP00000306477.6:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS745035" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000417015.3:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000403775.3:p.Pro122Thr", "hgvsWellDefined": "ENSP00000403775.3:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS754668" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000427382.2:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000397113.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000397113.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS755176" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.6:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000400995.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000400995.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS755651" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.7:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000388212.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000388212.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS756215" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "C", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000467027.6:n.1203C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756889" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000482824.2:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000494864.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000494864.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS757421" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000643237.3:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000495254.2:p.Pro122Thr", "hgvsWellDefined": "ENSP00000495254.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767167", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.364C>A" }, "RefSeq": { "hgvs": "NM_001370658.1:c.364C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Pro122Thr" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Pro122Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000646371.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000495866.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000495866.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS768834" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.1:c.130C>A" ], "proteinEffect": { "hgvs": "ENSP00000500069.1:p.Pro44Thr", "hgvsWellDefined": "ENSP00000500069.1:p.Pro44Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773213" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672065.1:c.424C>A" ], "proteinEffect": { "hgvs": "ENSP00000500403.1:p.Pro142Thr", "hgvsWellDefined": "ENSP00000500403.1:p.Pro142Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773257" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672112.1:c.430C>A" ], "proteinEffect": { "hgvs": "ENSP00000500193.1:p.Pro144Thr", "hgvsWellDefined": "ENSP00000500193.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773275" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672141.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500210.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500210.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773287" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "C", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672336.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500267.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500267.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773351" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672427.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500131.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500131.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773382" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672760.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500530.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500530.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773481" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "C", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.1:c.142C>A" ], "proteinEffect": { "hgvs": "ENSP00000499944.1:p.Pro48Thr", "hgvsWellDefined": "ENSP00000499944.1:p.Pro48Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773531" }, { "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673467.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500288.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500288.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773694" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673620.1:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000500325.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000500325.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773737" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.9:c.424C>A" ], "proteinEffect": { "hgvs": "ENSP00000306477.5:p.Pro142Thr", "hgvsWellDefined": "ENSP00000306477.5:p.Pro142Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS255323" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000383778.5:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000373288.4:p.Pro122Thr", "hgvsWellDefined": "ENSP00000373288.4:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS274028" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000436193.5:c.364C>A" ], "proteinEffect": { "hgvs": "ENSP00000394277.1:p.Pro122Thr", "hgvsWellDefined": "ENSP00000394277.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS293856" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.5:c.430C>A" ], "proteinEffect": { "hgvs": "ENSP00000400995.1:p.Pro144Thr", "hgvsWellDefined": "ENSP00000400995.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS294336" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.5:c.430C>A" ], "proteinEffect": { "hgvs": "ENSP00000388212.1:p.Pro144Thr", "hgvsWellDefined": "ENSP00000388212.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS300046" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000482824.1:n.499C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322424" }, { "@id": "http://reg.genome.network/allele/PA278200", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.3:c.424C>A" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Pro142Thr", "hgvsWellDefined": "NP_000051.1:p.Pro142Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006124" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.1:c.430C>A" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Pro144Thr", "hgvsWellDefined": "NP_001268652.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS021687" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.1:c.430C>A" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Pro144Thr", "hgvsWellDefined": "NP_001268653.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS021688" }, { "@id": "http://reg.genome.network/allele/PA2826591572", "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.1:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Pro122Thr", "hgvsWellDefined": "NP_001268654.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS021689" }, { "@id": "http://reg.genome.network/allele/PA916012458", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281726.1:c.424C>A" ], "proteinEffect": { "hgvs": "NP_001268655.1:p.Pro142Thr", "hgvsWellDefined": "NP_001268655.1:p.Pro142Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS021690" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_006713314.2:c.364C>A" ], "proteinEffect": { "hgvs": "XP_006713377.1:p.Pro122Thr", "hgvsWellDefined": "XP_006713377.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS070104" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.1:c.364C>A" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Pro122Thr", "hgvsWellDefined": "XP_011532343.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101059" }, { "@id": "http://reg.genome.network/allele/PA278200", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.4:c.424C>A" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Pro142Thr", "hgvsWellDefined": "NP_000051.1:p.Pro142Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510748" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.2:c.430C>A" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Pro144Thr", "hgvsWellDefined": "NP_001268652.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS512079" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.2:c.430C>A" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Pro144Thr", "hgvsWellDefined": "NP_001268653.1:p.Pro144Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS512080" }, { "@id": "http://reg.genome.network/allele/PA2826591572", "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.2:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Pro122Thr", "hgvsWellDefined": "NP_001268654.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS512081" }, { "@id": "http://reg.genome.network/allele/PA2827195694", "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "C", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001323582.1:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001310511.1:p.Pro122Thr", "hgvsWellDefined": "NP_001310511.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515472" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.2:c.364C>A" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Pro122Thr", "hgvsWellDefined": "XP_011532343.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS551484" }, { "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_017007088.1:c.364C>A" ], "proteinEffect": { "hgvs": "XP_016862577.1:p.Pro122Thr", "hgvsWellDefined": "XP_016862577.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS561945" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_024453724.1:c.364C>A" ], "proteinEffect": { "hgvs": "XP_024309492.1:p.Pro122Thr", "hgvsWellDefined": "XP_024309492.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS587099" }, { "@id": "http://reg.genome.network/allele/PA2826589609", "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.3:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001268652.2:p.Pro122Thr", "hgvsWellDefined": "NP_001268652.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681660" }, { "@id": "http://reg.genome.network/allele/PA2826590562", "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.3:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001268653.2:p.Pro122Thr", "hgvsWellDefined": "NP_001268653.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681661" }, { "@id": "http://reg.genome.network/allele/PA2828445805", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370658.1:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001357587.1:p.Pro122Thr", "hgvsWellDefined": "NP_001357587.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692577", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.364C>A" }, "RefSeq": { "hgvs": "NM_001370658.1:c.364C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Pro122Thr" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Pro122Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828448757", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370752.1:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001357681.1:p.Pro122Thr", "hgvsWellDefined": "NP_001357681.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692598" }, { "@id": "http://reg.genome.network/allele/PA2573072300", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370753.1:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001357682.1:p.Pro122Thr", "hgvsWellDefined": "NP_001357682.1:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692599" }, { "@id": "http://reg.genome.network/allele/PA2826592537", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281726.2:c.364C>A" ], "proteinEffect": { "hgvs": "NP_001268655.2:p.Pro122Thr", "hgvsWellDefined": "NP_001268655.2:p.Pro122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715719" } ], "type": "nucleotide" }