{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9745119", "communityStandardTitle": [ "NM_025220.5(ADAM33):c.2128G>A (p.Val710Ile)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4988781" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1867762[alleleid]", "alleleId": 1867762, "preferredName": "NM_025220.5(ADAM33):c.2128G>A (p.Val710Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1810748", "RCV": [ "RCV003235731" ], "variationId": 1810748 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-3651765-C-T", "id": "20-3651765-C-T", "variant": "20:3651765 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3651765C>T?assembly=hg19", "id": "chr20:g.3651765C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3671118C>T?assembly=hg38", "id": "chr20:g.3671118C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3918396", "rs": 3918396 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3651765-C-T?dataset=gnomad_r2_1", "id": "20-3651765-C-T", "variant": "20:3651765 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3671118-C-T?dataset=gnomad_r3", "id": "20-3671118-C-T", "variant": "20:3671118 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3671118-C-T?dataset=gnomad_r4", "id": "20-3671118-C-T", "variant": "20:3671118 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3671118, "referenceAllele": "C", "start": 3671117 } ], "hgvs": [ "NC_000020.11:g.3671118C>T", "CM000682.2:g.3671118C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3651765, "referenceAllele": "C", "start": 3651764 } ], "hgvs": [ "NC_000020.10:g.3651765C>T", "CM000682.1:g.3651765C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3599765, "referenceAllele": "C", "start": 3599764 } ], "hgvs": [ "NC_000020.9:g.3599765C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2134, "referenceAllele": "G", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000356518.7:c.2128G>A" ], "proteinEffect": { "hgvs": "ENSP00000348912.3:p.Val710Ile", "hgvsWellDefined": "ENSP00000348912.3:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS748809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356518.7:c.2128G>A" }, "RefSeq": { "hgvs": "NM_025220.5:c.2128G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348912.3:p.Val710Ile" }, "RefSeq": { "hgvs": "NP_079496.1:p.Val710Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "G", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000350009.6:c.2050G>A" ], "proteinEffect": { "hgvs": "ENSP00000322550.5:p.Val684Ile", "hgvsWellDefined": "ENSP00000322550.5:p.Val684Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS262646" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000356518.6:c.2128G>A" ], "proteinEffect": { "hgvs": "ENSP00000348912.2:p.Val710Ile", "hgvsWellDefined": "ENSP00000348912.2:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS263786" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000379861.8:c.2128G>A" ], "proteinEffect": { "hgvs": "ENSP00000369190.4:p.Val710Ile", "hgvsWellDefined": "ENSP00000369190.4:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS272674" }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "G", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000466620.5:n.1689G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309947" }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000617732.1:c.*815G>A" ], "proteinEffect": { "hgvs": "ENSP00000483343.1:n.*815G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS403609" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "G", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "ENST00000619289.4:c.1768G>A" ], "proteinEffect": { "hgvs": "ENSP00000484600.1:p.Val590Ile", "hgvsWellDefined": "ENSP00000484600.1:p.Val590Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS404315" }, { "@id": "http://reg.genome.network/allele/PA2826646732", "coordinates": [ { "allele": "A", "end": 2255, "referenceAllele": "G", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_001282447.1:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_001269376.1:p.Val710Ile", "hgvsWellDefined": "NP_001269376.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS021947" }, { "@id": "http://reg.genome.network/allele/PA2741989900", "coordinates": [ { "allele": "A", "end": 2255, "referenceAllele": "G", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_025220.3:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_079496.1:p.Val710Ile", "hgvsWellDefined": "NP_079496.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS038281" }, { "@id": "http://reg.genome.network/allele/PA2830311179", "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "G", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_153202.2:c.2050G>A" ], "proteinEffect": { "hgvs": "NP_694882.1:p.Val684Ile", "hgvsWellDefined": "NP_694882.1:p.Val684Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS042272" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_005260843.1:c.2167G>A" ], "proteinEffect": { "hgvs": "XP_005260900.1:p.Val723Ile", "hgvsWellDefined": "XP_005260900.1:p.Val723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS062946" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_006723639.1:c.2167G>A" ], "proteinEffect": { "hgvs": "XP_006723702.1:p.Val723Ile", "hgvsWellDefined": "XP_006723702.1:p.Val723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS075136" }, { "coordinates": [ { "allele": "A", "end": 2262, "referenceAllele": "G", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_006723640.1:c.2158G>A" ], "proteinEffect": { "hgvs": "XP_006723703.1:p.Val720Ile", "hgvsWellDefined": "XP_006723703.1:p.Val720Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS075137" }, { "coordinates": [ { "allele": "A", "end": 2170, "referenceAllele": "G", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_011529366.1:c.2164G>A" ], "proteinEffect": { "hgvs": "XP_011527668.1:p.Val722Ile", "hgvsWellDefined": "XP_011527668.1:p.Val722Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS096435" }, { "coordinates": [ { "allele": "A", "end": 2131, "referenceAllele": "G", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_011529367.1:c.2125G>A" ], "proteinEffect": { "hgvs": "XP_011527669.1:p.Val709Ile", "hgvsWellDefined": "XP_011527669.1:p.Val709Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS096436" }, { "coordinates": [ { "allele": "A", "end": 2193, "referenceAllele": "G", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_011529368.1:c.2089G>A" ], "proteinEffect": { "hgvs": "XP_011527670.1:p.Val697Ile", "hgvsWellDefined": "XP_011527670.1:p.Val697Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS096437" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_011529373.1:c.1165G>A" ], "proteinEffect": { "hgvs": "XP_011527675.1:p.Val389Ile", "hgvsWellDefined": "XP_011527675.1:p.Val389Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS096442" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937151.1:n.2271G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132128" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937152.1:n.2271G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132129" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937153.1:n.2152G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132130" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937154.1:n.2152G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132131" }, { "coordinates": [ { "allele": "A", "end": 2073, "referenceAllele": "G", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937155.1:n.2073G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132132" }, { "coordinates": [ { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_937157.1:n.2075G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132133" }, { "@id": "http://reg.genome.network/allele/PA2826646732", "coordinates": [ { "allele": "A", "end": 2814, "referenceAllele": "G", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_001282447.2:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_001269376.1:p.Val710Ile", "hgvsWellDefined": "NP_001269376.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS512099" }, { "@id": "http://reg.genome.network/allele/PA2741989900", "coordinates": [ { "allele": "A", "end": 2814, "referenceAllele": "G", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_025220.4:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_079496.1:p.Val710Ile", "hgvsWellDefined": "NP_079496.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526229" }, { "@id": "http://reg.genome.network/allele/PA2830311179", "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "G", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_153202.3:c.2050G>A" ], "proteinEffect": { "hgvs": "NP_694882.1:p.Val684Ile", "hgvsWellDefined": "NP_694882.1:p.Val684Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526696" }, { "coordinates": [ { "allele": "A", "end": 2241, "referenceAllele": "G", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XM_011529373.2:c.1165G>A" ], "proteinEffect": { "hgvs": "XP_011527675.1:p.Val389Ile", "hgvsWellDefined": "XP_011527675.1:p.Val389Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS549479" }, { "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_001754405.1:n.2239G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600557" }, { "coordinates": [ { "allele": "A", "end": 2348, "referenceAllele": "G", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "XR_002958534.1:n.2348G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604659" }, { "@id": "http://reg.genome.network/allele/PA2826646732", "coordinates": [ { "allele": "A", "end": 2134, "referenceAllele": "G", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_001282447.3:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_001269376.1:p.Val710Ile", "hgvsWellDefined": "NP_001269376.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS681779" }, { "@id": "http://reg.genome.network/allele/PA2741989900", "coordinates": [ { "allele": "A", "end": 2134, "referenceAllele": "G", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_025220.5:c.2128G>A" ], "proteinEffect": { "hgvs": "NP_079496.1:p.Val710Ile", "hgvsWellDefined": "NP_079496.1:p.Val710Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS698839", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356518.7:c.2128G>A" }, "RefSeq": { "hgvs": "NM_025220.5:c.2128G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348912.3:p.Val710Ile" }, "RefSeq": { "hgvs": "NP_079496.1:p.Val710Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2830311179", "coordinates": [ { "allele": "A", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN015478", "geneNCBI_id": 80332, "geneSymbol": "ADAM33", "hgvs": [ "NM_153202.4:c.2050G>A" ], "proteinEffect": { "hgvs": "NP_694882.1:p.Val684Ile", "hgvsWellDefined": "NP_694882.1:p.Val684Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS700319" } ], "type": "nucleotide" }