{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252253", "communityStandardTitle": [ "NM_213653.4(HJV):c.842T>C (p.Ile281Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17407[alleleid]", "alleleId": 17407, "preferredName": "NM_213653.4(HJV):c.842T>C (p.Ile281Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2368", "RCV": [ "RCV000002465", "RCV001092895" ], "variationId": 2368 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.145416497T>C?assembly=hg19", "id": "chr1:g.145416497T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.146018516A>G?assembly=hg38", "id": "chr1:g.146018516A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/74315326", "rs": 74315326 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-145416497-T-C?dataset=gnomad_r2_1", "id": "1-145416497-T-C", "variant": "1:145416497 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-146018516-A-G?dataset=gnomad_r3", "id": "1-146018516-A-G", "variant": "1:146018516 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-146018516-A-G?dataset=gnomad_r4", "id": "1-146018516-A-G", "variant": "1:146018516 A / G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 146018516, "referenceAllele": "A", "start": 146018515 } ], "hgvs": [ "NC_000001.11:g.146018516A>G", "CM000663.2:g.146018516A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 145416497, "referenceAllele": "T", "start": 145416496 } ], "hgvs": [ "NC_000001.10:g.145416497T>C", "CM000663.1:g.145416497T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 144127854, "referenceAllele": "T", "start": 144127853 } ], "hgvs": [ "NC_000001.9:g.144127854T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 8307, "referenceAllele": "T", "start": 8306 } ], "hgvs": [ "NG_011568.1:g.8307T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001828" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1080, "referenceAllele": "T", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000336751.11:c.842T>C" ], "proteinEffect": { "hgvs": "ENSP00000337014.5:p.Ile281Thr", "hgvsWellDefined": "ENSP00000337014.5:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336751.11:c.842T>C" }, "RefSeq": { "hgvs": "NM_213653.4:c.842T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337014.5:p.Ile281Thr" }, "RefSeq": { "hgvs": "NP_998818.1:p.Ile281Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 311, "referenceAllele": "T", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000636675.1:c.164T>C" ], "proteinEffect": { "hgvs": "ENSP00000490072.1:p.Ile55Thr", "hgvsWellDefined": "ENSP00000490072.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763300" }, { "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000336751.10:c.842T>C" ], "proteinEffect": { "hgvs": "ENSP00000337014.5:p.Ile281Thr", "hgvsWellDefined": "ENSP00000337014.5:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS260358" }, { "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "T", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000357836.5:c.503T>C" ], "proteinEffect": { "hgvs": "ENSP00000350495.5:p.Ile168Thr", "hgvsWellDefined": "ENSP00000350495.5:p.Ile168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS264247" }, { "coordinates": [ { "allele": "C", "end": 333, "referenceAllele": "T", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000475797.1:c.164T>C" ], "proteinEffect": { "hgvs": "ENSP00000425716.1:p.Ile55Thr", "hgvsWellDefined": "ENSP00000425716.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS317001" }, { "coordinates": [ { "allele": "C", "end": 371, "referenceAllele": "T", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "ENST00000497365.5:c.164T>C" ], "proteinEffect": { "hgvs": "ENSP00000421820.1:p.Ile55Thr", "hgvsWellDefined": "ENSP00000421820.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS333618" }, { "@id": "http://reg.genome.network/allele/PA2826958634", "coordinates": [ { "allele": "C", "end": 644, "referenceAllele": "T", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_001316767.1:c.164T>C" ], "proteinEffect": { "hgvs": "NP_001303696.1:p.Ile55Thr", "hgvsWellDefined": "NP_001303696.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026613" }, { "@id": "http://reg.genome.network/allele/PA2830272613", "coordinates": [ { "allele": "C", "end": 981, "referenceAllele": "T", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_145277.4:c.503T>C" ], "proteinEffect": { "hgvs": "NP_660320.3:p.Ile168Thr", "hgvsWellDefined": "NP_660320.3:p.Ile168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS041436" }, { "@id": "http://reg.genome.network/allele/PA2830472406", "coordinates": [ { "allele": "C", "end": 458, "referenceAllele": "T", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_202004.3:c.164T>C" ], "proteinEffect": { "hgvs": "NP_973733.1:p.Ile55Thr", "hgvsWellDefined": "NP_973733.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS045110" }, { "@id": "http://reg.genome.network/allele/PA916075860", "coordinates": [ { "allele": "C", "end": 421, "referenceAllele": "T", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_213652.3:c.164T>C" ], "proteinEffect": { "hgvs": "NP_998817.1:p.Ile55Thr", "hgvsWellDefined": "NP_998817.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS045621" }, { "@id": "http://reg.genome.network/allele/PA252254", "coordinates": [ { "allele": "C", "end": 1167, "referenceAllele": "T", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_213653.3:c.842T>C" ], "proteinEffect": { "hgvs": "NP_998818.1:p.Ile281Thr", "hgvsWellDefined": "NP_998818.1:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS045622" }, { "coordinates": [ { "allele": "C", "end": 1098, "referenceAllele": "T", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "XM_005272932.1:c.842T>C" ], "proteinEffect": { "hgvs": "XP_005272989.1:p.Ile281Thr", "hgvsWellDefined": "XP_005272989.1:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS067402" }, { "@id": "http://reg.genome.network/allele/PA2826958634", "coordinates": [ { "allele": "C", "end": 557, "referenceAllele": "T", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_001316767.2:c.164T>C" ], "proteinEffect": { "hgvs": "NP_001303696.1:p.Ile55Thr", "hgvsWellDefined": "NP_001303696.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS684188" }, { "@id": "http://reg.genome.network/allele/PA2830272613", "coordinates": [ { "allele": "C", "end": 894, "referenceAllele": "T", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_145277.5:c.503T>C" ], "proteinEffect": { "hgvs": "NP_660320.3:p.Ile168Thr", "hgvsWellDefined": "NP_660320.3:p.Ile168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS700009" }, { "@id": "http://reg.genome.network/allele/PA2830472406", "coordinates": [ { "allele": "C", "end": 371, "referenceAllele": "T", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_202004.4:c.164T>C" ], "proteinEffect": { "hgvs": "NP_973733.1:p.Ile55Thr", "hgvsWellDefined": "NP_973733.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS701603" }, { "@id": "http://reg.genome.network/allele/PA916075860", "coordinates": [ { "allele": "C", "end": 334, "referenceAllele": "T", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_213652.4:c.164T>C" ], "proteinEffect": { "hgvs": "NP_998817.1:p.Ile55Thr", "hgvsWellDefined": "NP_998817.1:p.Ile55Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS701818" }, { "@id": "http://reg.genome.network/allele/PA2828827442", "coordinates": [ { "allele": "C", "end": 1098, "referenceAllele": "T", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_001379352.1:c.842T>C" ], "proteinEffect": { "hgvs": "NP_001366281.1:p.Ile281Thr", "hgvsWellDefined": "NP_001366281.1:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721973" }, { "@id": "http://reg.genome.network/allele/PA252254", "coordinates": [ { "allele": "C", "end": 1080, "referenceAllele": "T", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_213653.4:c.842T>C" ], "proteinEffect": { "hgvs": "NP_998818.1:p.Ile281Thr", "hgvsWellDefined": "NP_998818.1:p.Ile281Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS730158", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336751.11:c.842T>C" }, "RefSeq": { "hgvs": "NM_213653.4:c.842T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337014.5:p.Ile281Thr" }, "RefSeq": { "hgvs": "NP_998818.1:p.Ile281Thr" } } } } ], "type": "nucleotide" }