{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2070312", "communityStandardTitle": [ "NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=883456[alleleid]", "alleleId": 883456, "preferredName": "NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/894804", "RCV": [ "RCV001136552", "RCV001136551", "RCV002558295" ], "variationId": 894804 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-206991484-C-T", "id": "2-206991484-C-T", "variant": "2:206991484 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.206991484C>T?assembly=hg19", "id": "chr2:g.206991484C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.206126760C>T?assembly=hg38", "id": "chr2:g.206126760C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769276632", "rs": 769276632 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-206991484-C-T?dataset=gnomad_r2_1", "id": "2-206991484-C-T", "variant": "2:206991484 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-206126760-C-T?dataset=gnomad_r3", "id": "2-206126760-C-T", "variant": "2:206126760 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-206126760-C-T?dataset=gnomad_r4", "id": "2-206126760-C-T", "variant": "2:206126760 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 206126760, "referenceAllele": "C", "start": 206126759 } ], "hgvs": [ "NC_000002.12:g.206126760C>T", "CM000664.2:g.206126760C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 206991484, "referenceAllele": "C", "start": 206991483 } ], "hgvs": [ "NC_000002.11:g.206991484C>T", "CM000664.1:g.206991484C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 206699729, "referenceAllele": "C", "start": 206699728 } ], "hgvs": [ "NC_000002.10:g.206699729C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 37704, "referenceAllele": "G", "start": 37703 } ], "hgvs": [ "NG_009248.1:g.37704G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001518" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2077, "referenceAllele": "G", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000233190.11:c.1969G>A" ], "proteinEffect": { "hgvs": "ENSP00000233190.5:p.Asp657Asn", "hgvsWellDefined": "ENSP00000233190.5:p.Asp657Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS740910", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233190.11:c.1969G>A" }, "RefSeq": { "hgvs": "NM_005006.7:c.1969G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233190.5:p.Asp657Asn" }, "RefSeq": { "hgvs": "NP_004997.4:p.Asp657Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 2236, "referenceAllele": "G", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000233190.10:c.1969G>A" ], "proteinEffect": { "hgvs": "ENSP00000233190.5:p.Asp657Asn", "hgvsWellDefined": "ENSP00000233190.5:p.Asp657Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS248853" }, { "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000423725.5:c.1798G>A" ], "proteinEffect": { "hgvs": "ENSP00000397760.1:p.Asp600Asn", "hgvsWellDefined": "ENSP00000397760.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS287907" }, { "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000432169.5:c.1636G>A" ], "proteinEffect": { "hgvs": "ENSP00000409689.1:p.Asp546Asn", "hgvsWellDefined": "ENSP00000409689.1:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS291970" }, { "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "G", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000440274.5:c.1861G>A" ], "proteinEffect": { "hgvs": "ENSP00000409766.1:p.Asp621Asn", "hgvsWellDefined": "ENSP00000409766.1:p.Asp621Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS295808" }, { "coordinates": [ { "allele": "A", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000449699.5:c.1969G>A" ], "proteinEffect": { "hgvs": "ENSP00000399912.1:p.Asp657Asn", "hgvsWellDefined": "ENSP00000399912.1:p.Asp657Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS300345" }, { "coordinates": [ { "allele": "A", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000455934.6:c.2011G>A" ], "proteinEffect": { "hgvs": "ENSP00000392709.2:p.Asp671Asn", "hgvsWellDefined": "ENSP00000392709.2:p.Asp671Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS303268" }, { "coordinates": [ { "allele": "A", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "ENST00000457011.5:c.1621G>A" ], "proteinEffect": { "hgvs": "ENSP00000400976.1:p.Asp541Asn", "hgvsWellDefined": "ENSP00000400976.1:p.Asp541Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS303747" }, { "@id": "http://reg.genome.network/allele/PA2826251542", "coordinates": [ { "allele": "A", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199981.1:c.1861G>A" ], "proteinEffect": { "hgvs": "NP_001186910.1:p.Asp621Asn", "hgvsWellDefined": "NP_001186910.1:p.Asp621Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017288" }, { "@id": "http://reg.genome.network/allele/PA2826251721", "coordinates": [ { "allele": "A", "end": 1875, "referenceAllele": "G", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199982.1:c.1636G>A" ], "proteinEffect": { "hgvs": "NP_001186911.1:p.Asp546Asn", "hgvsWellDefined": "NP_001186911.1:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017289" }, { "@id": "http://reg.genome.network/allele/PA2826251926", "coordinates": [ { "allele": "A", "end": 2060, "referenceAllele": "G", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199983.1:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_001186912.1:p.Asp600Asn", "hgvsWellDefined": "NP_001186912.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017290" }, { "@id": "http://reg.genome.network/allele/PA1139689551", "coordinates": [ { "allele": "A", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199984.1:c.2011G>A" ], "proteinEffect": { "hgvs": "NP_001186913.1:p.Asp671Asn", "hgvsWellDefined": "NP_001186913.1:p.Asp671Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017291" }, { "@id": "http://reg.genome.network/allele/PA2829567533", "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_005006.6:c.1969G>A" ], "proteinEffect": { "hgvs": "NP_004997.4:p.Asp657Asn", "hgvsWellDefined": "NP_004997.4:p.Asp657Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS030136" }, { "coordinates": [ { "allele": "A", "end": 2108, "referenceAllele": "G", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "XM_017004188.2:c.1210G>A" ], "proteinEffect": { "hgvs": "XP_016859677.1:p.Asp404Asn", "hgvsWellDefined": "XP_016859677.1:p.Asp404Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS559766" }, { "@id": "http://reg.genome.network/allele/PA2826251542", "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199981.2:c.1861G>A" ], "proteinEffect": { "hgvs": "NP_001186910.1:p.Asp621Asn", "hgvsWellDefined": "NP_001186910.1:p.Asp621Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679648" }, { "@id": "http://reg.genome.network/allele/PA2826251721", "coordinates": [ { "allele": "A", "end": 1800, "referenceAllele": "G", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199982.2:c.1636G>A" ], "proteinEffect": { "hgvs": "NP_001186911.1:p.Asp546Asn", "hgvsWellDefined": "NP_001186911.1:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679649" }, { "@id": "http://reg.genome.network/allele/PA2826251926", "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199983.2:c.1798G>A" ], "proteinEffect": { "hgvs": "NP_001186912.1:p.Asp600Asn", "hgvsWellDefined": "NP_001186912.1:p.Asp600Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679650" }, { "@id": "http://reg.genome.network/allele/PA2829567533", "coordinates": [ { "allele": "A", "end": 2077, "referenceAllele": "G", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_005006.7:c.1969G>A" ], "proteinEffect": { "hgvs": "NP_004997.4:p.Asp657Asn", "hgvsWellDefined": "NP_004997.4:p.Asp657Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696298", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233190.11:c.1969G>A" }, "RefSeq": { "hgvs": "NM_005006.7:c.1969G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233190.5:p.Asp657Asn" }, "RefSeq": { "hgvs": "NP_004997.4:p.Asp657Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA1139689551", "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "G", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN007707", "geneNCBI_id": 4719, "geneSymbol": "NDUFS1", "hgvs": [ "NM_001199984.2:c.2011G>A" ], "proteinEffect": { "hgvs": "NP_001186913.1:p.Asp671Asn", "hgvsWellDefined": "NP_001186913.1:p.Asp671Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS714048" } ], "type": "nucleotide" }