{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8768824", "communityStandardTitle": [ "NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1035886[alleleid]", "alleleId": 1035886, "preferredName": "NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048061", "RCV": [ "RCV001352875" ], "variationId": 1048061 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-73726580-T-G", "id": "17-73726580-T-G", "variant": "17:73726580 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73726580T>G?assembly=hg19", "id": "chr17:g.73726580T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75730499T>G?assembly=hg38", "id": "chr17:g.75730499T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761952496", "rs": 761952496 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73726580-T-G?dataset=gnomad_r2_1", "id": "17-73726580-T-G", "variant": "17:73726580 T / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75730499-T-G?dataset=gnomad_r3", "id": "17-75730499-T-G", "variant": "17:75730499 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75730499-T-G?dataset=gnomad_r4", "id": "17-75730499-T-G", "variant": "17:75730499 T / G" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 75730499, "referenceAllele": "T", "start": 75730498 } ], "hgvs": [ "NC_000017.11:g.75730499T>G", "CM000679.2:g.75730499T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 73726580, "referenceAllele": "T", "start": 73726579 } ], "hgvs": [ "NC_000017.10:g.73726580T>G", "CM000679.1:g.73726580T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 71238175, "referenceAllele": "T", "start": 71238174 } ], "hgvs": [ "NC_000017.9:g.71238175T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 14065, "referenceAllele": "T", "start": 14064 } ], "hgvs": [ "NG_007372.1:g.14065T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000549" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.7:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000400217.2:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS904987" }, { "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.8:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000200181.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS740140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.997T>G" }, "RefSeq": { "hgvs": "NM_000213.5:c.997T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Tyr333Asp" }, "RefSeq": { "hgvs": "NP_000204.3:p.Tyr333Asp" } } } }, { "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "T", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.7:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000200181.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247769" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "T", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.6:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000400217.2:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS300432" }, { "coordinates": [ { "allele": "G", "end": 1123, "referenceAllele": "T", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000450894.7:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000405536.3:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000405536.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS300917" }, { "coordinates": [ { "allele": "G", "end": 1243, "referenceAllele": "T", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000579662.5:c.997T>G" ], "proteinEffect": { "hgvs": "ENSP00000463651.1:p.Tyr333Asp", "hgvsWellDefined": "ENSP00000463651.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS385949" }, { "coordinates": [ { "allele": "G", "end": 1062, "referenceAllele": "T", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000580542.5:n.1062T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS386374" }, { "coordinates": [ { "allele": "G", "end": 265, "endIntronDirection": "+", "endIntronOffset": 1122, "referenceAllele": "T", "start": 265, "startIntronDirection": "+", "startIntronOffset": 1121 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000582629.1:c.265+1122T>G" ], "proteinEffect": { "hgvs": "ENSP00000463788.1:n.265+1122T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS387364" }, { "coordinates": [ { "allele": "G", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000584558.5:n.997T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS388276" }, { "@id": "http://reg.genome.network/allele/PA2825086831", "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "T", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.3:c.997T>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr333Asp", "hgvsWellDefined": "NP_000204.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006277" }, { "@id": "http://reg.genome.network/allele/PA2825274816", "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "T", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005619.1:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001005619.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001005619.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS007768" }, { "@id": "http://reg.genome.network/allele/PA2825275709", "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "T", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.1:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001005731.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS007769" }, { "coordinates": [ { "allele": "G", "end": 1062, "referenceAllele": "T", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257309.2:c.997T>G" ], "proteinEffect": { "hgvs": "XP_005257366.1:p.Tyr333Asp", "hgvsWellDefined": "XP_005257366.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS061657" }, { "coordinates": [ { "allele": "G", "end": 1278, "referenceAllele": "T", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.3:c.997T>G" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Tyr333Asp", "hgvsWellDefined": "XP_005257368.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS061658" }, { "coordinates": [ { "allele": "G", "end": 1062, "referenceAllele": "T", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257312.2:c.997T>G" ], "proteinEffect": { "hgvs": "XP_005257369.1:p.Tyr333Asp", "hgvsWellDefined": "XP_005257369.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS061659" }, { "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "T", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.2:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721929.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS074288" }, { "coordinates": [ { "allele": "G", "end": 1181, "referenceAllele": "T", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.2:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721930.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS074289" }, { "coordinates": [ { "allele": "G", "end": 1178, "referenceAllele": "T", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.2:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721931.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS074290" }, { "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "T", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.2:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721933.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS074291" }, { "coordinates": [ { "allele": "G", "end": 1182, "referenceAllele": "T", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.1:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Tyr368Asp", "hgvsWellDefined": "XP_011523053.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS091872" }, { "@id": "http://reg.genome.network/allele/PA2825086831", "coordinates": [ { "allele": "G", "end": 1292, "referenceAllele": "T", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.4:c.997T>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr333Asp", "hgvsWellDefined": "NP_000204.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS510767" }, { "@id": "http://reg.genome.network/allele/PA2825275709", "coordinates": [ { "allele": "G", "end": 1292, "referenceAllele": "T", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.2:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001005731.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS510938" }, { "@id": "http://reg.genome.network/allele/PA2499248560", "coordinates": [ { "allele": "G", "end": 1243, "referenceAllele": "T", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.1:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001308052.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS514056" }, { "coordinates": [ { "allele": "G", "end": 1281, "referenceAllele": "T", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.4:c.997T>G" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Tyr333Asp", "hgvsWellDefined": "XP_005257368.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS534638" }, { "coordinates": [ { "allele": "G", "end": 1208, "referenceAllele": "T", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.3:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721929.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540400" }, { "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "T", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.3:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721930.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540401" }, { "coordinates": [ { "allele": "G", "end": 1202, "referenceAllele": "T", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.3:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721931.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540402" }, { "coordinates": [ { "allele": "G", "end": 1198, "referenceAllele": "T", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.3:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Tyr368Asp", "hgvsWellDefined": "XP_006721933.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540403" }, { "coordinates": [ { "allele": "G", "end": 1206, "referenceAllele": "T", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.2:c.1102T>G" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Tyr368Asp", "hgvsWellDefined": "XP_011523053.1:p.Tyr368Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS547579" }, { "@id": "http://reg.genome.network/allele/PA2825086831", "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.5:c.997T>G" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Tyr333Asp", "hgvsWellDefined": "NP_000204.3:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS662359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.997T>G" }, "RefSeq": { "hgvs": "NM_000213.5:c.997T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Tyr333Asp" }, "RefSeq": { "hgvs": "NP_000204.3:p.Tyr333Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825275709", "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.3:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001005731.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS675206" }, { "@id": "http://reg.genome.network/allele/PA2499248560", "coordinates": [ { "allele": "G", "end": 1112, "referenceAllele": "T", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.2:c.997T>G" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Tyr333Asp", "hgvsWellDefined": "NP_001308052.1:p.Tyr333Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS685213" } ], "type": "nucleotide" }