{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8768821", "communityStandardTitle": [ "NM_000213.5(ITGB4):c.989A>G (p.Tyr330Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3052238[alleleid]", "alleleId": 3052238, "preferredName": "NM_000213.5(ITGB4):c.989A>G (p.Tyr330Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2894698", "RCV": [ "RCV003725959" ], "variationId": 2894698 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-73726572-A-G", "id": "17-73726572-A-G", "variant": "17:73726572 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73726572A>G?assembly=hg19", "id": "chr17:g.73726572A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75730491A>G?assembly=hg38", "id": "chr17:g.75730491A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/370664880", "rs": 370664880 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73726572-A-G?dataset=gnomad_r2_1", "id": "17-73726572-A-G", "variant": "17:73726572 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75730491-A-G?dataset=gnomad_r3", "id": "17-75730491-A-G", "variant": "17:75730491 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75730491-A-G?dataset=gnomad_r4", "id": "17-75730491-A-G", "variant": "17:75730491 A / G" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 75730491, "referenceAllele": "A", "start": 75730490 } ], "hgvs": [ "NC_000017.11:g.75730491A>G", "CM000679.2:g.75730491A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 73726572, "referenceAllele": "A", "start": 73726571 } ], "hgvs": [ "NC_000017.10:g.73726572A>G", "CM000679.1:g.73726572A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 71238167, "referenceAllele": "A", "start": 71238166 } ], "hgvs": [ "NC_000017.9:g.71238167A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 14057, "referenceAllele": "A", "start": 14056 } ], "hgvs": [ "NG_007372.1:g.14057A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000549" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.7:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000400217.2:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS904987" }, { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.8:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000200181.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS740140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.989A>G" }, "RefSeq": { "hgvs": "NM_000213.5:c.989A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Tyr330Cys" }, "RefSeq": { "hgvs": "NP_000204.3:p.Tyr330Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "A", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.7:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000200181.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247769" }, { "coordinates": [ { "allele": "G", "end": 997, "referenceAllele": "A", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.6:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000400217.2:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300432" }, { "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "A", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000450894.7:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000405536.3:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000405536.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300917" }, { "coordinates": [ { "allele": "G", "end": 1235, "referenceAllele": "A", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000579662.5:c.989A>G" ], "proteinEffect": { "hgvs": "ENSP00000463651.1:p.Tyr330Cys", "hgvsWellDefined": "ENSP00000463651.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS385949" }, { "coordinates": [ { "allele": "G", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000580542.5:n.1054A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS386374" }, { "coordinates": [ { "allele": "G", "end": 265, "endIntronDirection": "+", "endIntronOffset": 1114, "referenceAllele": "A", "start": 265, "startIntronDirection": "+", "startIntronOffset": 1113 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000582629.1:c.265+1114A>G" ], "proteinEffect": { "hgvs": "ENSP00000463788.1:n.265+1114A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS387364" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000584558.5:n.989A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS388276" }, { "@id": "http://reg.genome.network/allele/PA2825086828", "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "A", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.3:c.989A>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr330Cys", "hgvsWellDefined": "NP_000204.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006277" }, { "@id": "http://reg.genome.network/allele/PA2825274813", "coordinates": [ { "allele": "G", "end": 997, "referenceAllele": "A", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005619.1:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001005619.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001005619.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007768" }, { "@id": "http://reg.genome.network/allele/PA2825275706", "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "A", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.1:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001005731.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS007769" }, { "coordinates": [ { "allele": "G", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257309.2:c.989A>G" ], "proteinEffect": { "hgvs": "XP_005257366.1:p.Tyr330Cys", "hgvsWellDefined": "XP_005257366.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061657" }, { "coordinates": [ { "allele": "G", "end": 1270, "referenceAllele": "A", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.3:c.989A>G" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Tyr330Cys", "hgvsWellDefined": "XP_005257368.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061658" }, { "coordinates": [ { "allele": "G", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257312.2:c.989A>G" ], "proteinEffect": { "hgvs": "XP_005257369.1:p.Tyr330Cys", "hgvsWellDefined": "XP_005257369.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061659" }, { "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "A", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.2:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721929.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074288" }, { "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.2:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721930.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074289" }, { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "A", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.2:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721931.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074290" }, { "coordinates": [ { "allele": "G", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.2:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721933.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074291" }, { "coordinates": [ { "allele": "G", "end": 1174, "referenceAllele": "A", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.1:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Tyr365Cys", "hgvsWellDefined": "XP_011523053.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS091872" }, { "@id": "http://reg.genome.network/allele/PA2825086828", "coordinates": [ { "allele": "G", "end": 1284, "referenceAllele": "A", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.4:c.989A>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr330Cys", "hgvsWellDefined": "NP_000204.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510767" }, { "@id": "http://reg.genome.network/allele/PA2825275706", "coordinates": [ { "allele": "G", "end": 1284, "referenceAllele": "A", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.2:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001005731.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510938" }, { "@id": "http://reg.genome.network/allele/PA2741857733", "coordinates": [ { "allele": "G", "end": 1235, "referenceAllele": "A", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.1:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001308052.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514056" }, { "coordinates": [ { "allele": "G", "end": 1273, "referenceAllele": "A", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.4:c.989A>G" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Tyr330Cys", "hgvsWellDefined": "XP_005257368.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS534638" }, { "coordinates": [ { "allele": "G", "end": 1200, "referenceAllele": "A", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.3:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721929.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540400" }, { "coordinates": [ { "allele": "G", "end": 1197, "referenceAllele": "A", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.3:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721930.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540401" }, { "coordinates": [ { "allele": "G", "end": 1194, "referenceAllele": "A", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.3:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721931.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540402" }, { "coordinates": [ { "allele": "G", "end": 1190, "referenceAllele": "A", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.3:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Tyr365Cys", "hgvsWellDefined": "XP_006721933.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540403" }, { "coordinates": [ { "allele": "G", "end": 1198, "referenceAllele": "A", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.2:c.1094A>G" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Tyr365Cys", "hgvsWellDefined": "XP_011523053.1:p.Tyr365Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS547579" }, { "@id": "http://reg.genome.network/allele/PA2825086828", "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.5:c.989A>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr330Cys", "hgvsWellDefined": "NP_000204.3:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.989A>G" }, "RefSeq": { "hgvs": "NM_000213.5:c.989A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Tyr330Cys" }, "RefSeq": { "hgvs": "NP_000204.3:p.Tyr330Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825275706", "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.3:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001005731.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS675206" }, { "@id": "http://reg.genome.network/allele/PA2741857733", "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "A", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.2:c.989A>G" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Tyr330Cys", "hgvsWellDefined": "NP_001308052.1:p.Tyr330Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685213" } ], "type": "nucleotide" }