{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8768899", "communityStandardTitle": [ "NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=329869[alleleid]", "alleleId": 329869, "preferredName": "NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325134", "RCV": [ "RCV000383527", "RCV002523015" ], "variationId": 325134 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-73727415-G-A", "id": "17-73727415-G-A", "variant": "17:73727415 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73727415G>A?assembly=hg19", "id": "chr17:g.73727415G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75731334G>A?assembly=hg38", "id": "chr17:g.75731334G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144655991", "rs": 144655991 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73727415-G-A?dataset=gnomad_r2_1", "id": "17-73727415-G-A", "variant": "17:73727415 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75731334-G-A?dataset=gnomad_r3", "id": "17-75731334-G-A", "variant": "17:75731334 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75731334-G-A?dataset=gnomad_r4", "id": "17-75731334-G-A", "variant": "17:75731334 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75731334, "referenceAllele": "G", "start": 75731333 } ], "hgvs": [ "NC_000017.11:g.75731334G>A", "CM000679.2:g.75731334G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73727415, "referenceAllele": "G", "start": 73727414 } ], "hgvs": [ "NC_000017.10:g.73727415G>A", "CM000679.1:g.73727415G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71239010, "referenceAllele": "G", "start": 71239009 } ], "hgvs": [ "NC_000017.9:g.71239010G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 14900, "referenceAllele": "G", "start": 14899 } ], "hgvs": [ "NG_007372.1:g.14900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000549" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.7:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Arg394Lys", "hgvsWellDefined": "ENSP00000400217.2:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS904987" }, { "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.8:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Arg394Lys", "hgvsWellDefined": "ENSP00000200181.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS740140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.1181G>A" }, "RefSeq": { "hgvs": "NM_000213.5:c.1181G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Arg394Lys" }, "RefSeq": { "hgvs": "NP_000204.3:p.Arg394Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.7:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Arg394Lys", "hgvsWellDefined": "ENSP00000200181.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247769" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.6:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Arg394Lys", "hgvsWellDefined": "ENSP00000400217.2:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300432" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000450894.7:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000405536.3:p.Arg394Lys", "hgvsWellDefined": "ENSP00000405536.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300917" }, { "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000579662.5:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000463651.1:p.Arg394Lys", "hgvsWellDefined": "ENSP00000463651.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS385949" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000580542.5:n.1246G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS386374" }, { "coordinates": [ { "allele": "A", "end": 265, "endIntronDirection": "+", "endIntronOffset": 1957, "referenceAllele": "G", "start": 265, "startIntronDirection": "+", "startIntronOffset": 1956 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000582629.1:c.265+1957G>A" ], "proteinEffect": { "hgvs": "ENSP00000463788.1:n.265+1957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS387364" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000584558.5:n.1181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388276" }, { "@id": "http://reg.genome.network/allele/PA2825086858", "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.3:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Arg394Lys", "hgvsWellDefined": "NP_000204.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006277" }, { "@id": "http://reg.genome.network/allele/PA2825274836", "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005619.1:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001005619.1:p.Arg394Lys", "hgvsWellDefined": "NP_001005619.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007768" }, { "@id": "http://reg.genome.network/allele/PA645496337", "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.1:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Arg394Lys", "hgvsWellDefined": "NP_001005731.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007769" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257309.2:c.1181G>A" ], "proteinEffect": { "hgvs": "XP_005257366.1:p.Arg394Lys", "hgvsWellDefined": "XP_005257366.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061657" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.3:c.1181G>A" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Arg394Lys", "hgvsWellDefined": "XP_005257368.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061658" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257312.2:c.1181G>A" ], "proteinEffect": { "hgvs": "XP_005257369.1:p.Arg394Lys", "hgvsWellDefined": "XP_005257369.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061659" }, { "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.2:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721929.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074288" }, { "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.2:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721930.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074289" }, { "coordinates": [ { "allele": "A", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.2:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721931.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074290" }, { "coordinates": [ { "allele": "A", "end": 1359, "referenceAllele": "G", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.2:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721933.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074291" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.1:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Arg429Lys", "hgvsWellDefined": "XP_011523053.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS091872" }, { "@id": "http://reg.genome.network/allele/PA2825086858", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "G", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.4:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Arg394Lys", "hgvsWellDefined": "NP_000204.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510767" }, { "@id": "http://reg.genome.network/allele/PA645496337", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "G", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.2:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Arg394Lys", "hgvsWellDefined": "NP_001005731.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510938" }, { "@id": "http://reg.genome.network/allele/PA916024806", "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.1:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Arg394Lys", "hgvsWellDefined": "NP_001308052.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514056" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.4:c.1181G>A" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Arg394Lys", "hgvsWellDefined": "XP_005257368.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS534638" }, { "coordinates": [ { "allele": "A", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.3:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721929.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540400" }, { "coordinates": [ { "allele": "A", "end": 1389, "referenceAllele": "G", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.3:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721930.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540401" }, { "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "G", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.3:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721931.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540402" }, { "coordinates": [ { "allele": "A", "end": 1382, "referenceAllele": "G", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.3:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Arg429Lys", "hgvsWellDefined": "XP_006721933.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540403" }, { "coordinates": [ { "allele": "A", "end": 1390, "referenceAllele": "G", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.2:c.1286G>A" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Arg429Lys", "hgvsWellDefined": "XP_011523053.1:p.Arg429Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS547579" }, { "@id": "http://reg.genome.network/allele/PA2825086858", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.5:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Arg394Lys", "hgvsWellDefined": "NP_000204.3:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.1181G>A" }, "RefSeq": { "hgvs": "NM_000213.5:c.1181G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Arg394Lys" }, "RefSeq": { "hgvs": "NP_000204.3:p.Arg394Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA645496337", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.3:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Arg394Lys", "hgvsWellDefined": "NP_001005731.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS675206" }, { "@id": "http://reg.genome.network/allele/PA916024806", "coordinates": [ { "allele": "A", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.2:c.1181G>A" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Arg394Lys", "hgvsWellDefined": "NP_001308052.1:p.Arg394Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685213" } ], "type": "nucleotide" }