{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3577152", "communityStandardTitle": [ "NM_022455.5(NSD1):c.1840G>A (p.Val614Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2297561[alleleid]", "alleleId": 2297561, "preferredName": "NM_022455.5(NSD1):c.1840G>A (p.Val614Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2306917", "RCV": [ "RCV002896391" ], "variationId": 2306917 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-176637240-G-A", "id": "5-176637240-G-A", "variant": "5:176637240 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176637240G>A?assembly=hg19", "id": "chr5:g.176637240G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177210239G>A?assembly=hg38", "id": "chr5:g.177210239G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3733875", "rs": 3733875 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-176637240-G-A?dataset=gnomad_r2_1", "id": "5-176637240-G-A", "variant": "5:176637240 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-177210239-G-A?dataset=gnomad_r4", "id": "5-177210239-G-A", "variant": "5:177210239 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 177210239, "referenceAllele": "G", "start": 177210238 } ], "hgvs": [ "NC_000005.10:g.177210239G>A", "CM000667.2:g.177210239G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176637240, "referenceAllele": "G", "start": 176637239 } ], "hgvs": [ "NC_000005.9:g.176637240G>A", "CM000667.1:g.176637240G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176569846, "referenceAllele": "G", "start": 176569845 } ], "hgvs": [ "NC_000005.8:g.176569846G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 82161, "referenceAllele": "G", "start": 82160 } ], "hgvs": [ "NG_009821.1:g.82161G>A", "LRG_512:g.82161G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "G", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Val323Met", "hgvsWellDefined": "ENSP00000423372.3:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Val323Met", "hgvsWellDefined": "ENSP00000343209.5:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Val323Met", "hgvsWellDefined": "ENSP00000346111.5:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "G", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.6:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000423372.2:p.Val323Met", "hgvsWellDefined": "ENSP00000423372.2:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS825543" }, { "coordinates": [ { "allele": "A", "end": 612, "endIntronDirection": "+", "endIntronOffset": 5947, "referenceAllele": "G", "start": 612, "startIntronDirection": "+", "startIntronOffset": 5946 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000510954.6:n.612+5947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825574" }, { "coordinates": [ { "allele": "A", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000638627.3:c.784G>A" ], "proteinEffect": { "hgvs": "ENSP00000492679.3:p.Val262Met", "hgvsWellDefined": "ENSP00000492679.3:p.Val262Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS826677" }, { "coordinates": [ { "allele": "A", "end": 1423, "referenceAllele": "G", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.1423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Val323Met", "hgvsWellDefined": "ENSP00000510020.1:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "G", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.1531G>A" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Val511Met", "hgvsWellDefined": "ENSP00000508426.1:p.Val511Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "A", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.1237G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "A", "end": 2042, "referenceAllele": "G", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689326.1:c.1840G>A" ], "proteinEffect": { "hgvs": "ENSP00000509594.1:p.Val614Met", "hgvsWellDefined": "ENSP00000509594.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS832114" }, { "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Val323Met", "hgvsWellDefined": "ENSP00000509711.1:p.Val323Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.1987G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "A", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.1840G>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Val614Met", "hgvsWellDefined": "ENSP00000395929.2:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.1840G>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.1840G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Val614Met" }, "RefSeq": { "hgvs": "NP_071900.2:p.Val614Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000638627.2:c.*933G>A" ], "proteinEffect": { "hgvs": "ENSP00000492679.2:n.*933G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764624" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.1033G>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Val345Met", "hgvsWellDefined": "ENSP00000343209.4:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.1033G>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Val345Met", "hgvsWellDefined": "ENSP00000346111.4:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "A", "end": 1885, "referenceAllele": "G", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.1840G>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Val614Met", "hgvsWellDefined": "ENSP00000395929.2:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "@id": "http://reg.genome.network/allele/PA2580454266", "coordinates": [ { "allele": "A", "end": 1978, "referenceAllele": "G", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.1840G>A", "LRG_512t1:c.1840G>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Val614Met", "hgvsWellDefined": "NP_071900.2:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.1033G>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Val345Met", "hgvsWellDefined": "NP_758859.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Val614Met", "hgvsWellDefined": "XP_005266016.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.1033G>A" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Val345Met", "hgvsWellDefined": "XP_005266017.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.1033G>A" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Val345Met", "hgvsWellDefined": "XP_005266018.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "A", "end": 1909, "referenceAllele": "G", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Val614Met", "hgvsWellDefined": "XP_011532912.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "A", "end": 1880, "referenceAllele": "G", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Val614Met", "hgvsWellDefined": "XP_011532913.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "A", "end": 1623, "referenceAllele": "G", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.1420G>A" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Val474Met", "hgvsWellDefined": "XP_011532914.1:p.Val474Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.784G>A" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Val262Met", "hgvsWellDefined": "XP_011532915.1:p.Val262Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "A", "end": 2046, "referenceAllele": "G", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534614.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011532916.1:p.Val614Met", "hgvsWellDefined": "XP_011532916.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101626" }, { "coordinates": [ { "allele": "A", "end": 2046, "referenceAllele": "G", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534615.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011532917.1:p.Val614Met", "hgvsWellDefined": "XP_011532917.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101627" }, { "coordinates": [ { "allele": "A", "end": 2047, "referenceAllele": "G", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534616.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_011532918.1:p.Val614Met", "hgvsWellDefined": "XP_011532918.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS101628" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.1033G>A" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Val345Met", "hgvsWellDefined": "NP_001352613.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Val614Met", "hgvsWellDefined": "XP_024301918.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "A", "end": 1962, "referenceAllele": "G", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Val614Met", "hgvsWellDefined": "XP_024301919.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "G", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Val614Met", "hgvsWellDefined": "XP_024301920.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "A", "end": 2611, "referenceAllele": "G", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Val614Met", "hgvsWellDefined": "XP_024301921.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1420G>A" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Val474Met", "hgvsWellDefined": "XP_024301922.1:p.Val474Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1033G>A" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Val345Met", "hgvsWellDefined": "XP_024301923.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1033G>A" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Val345Met", "hgvsWellDefined": "XP_024301924.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1033G>A" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Val345Met", "hgvsWellDefined": "XP_024301926.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.784G>A" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Val262Met", "hgvsWellDefined": "XP_024301927.1:p.Val262Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "A", "end": 2066, "referenceAllele": "G", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Val614Met", "hgvsWellDefined": "XP_024301928.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "A", "end": 2066, "referenceAllele": "G", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.1840G>A" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Val614Met", "hgvsWellDefined": "XP_024301929.1:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "A", "end": 959, "referenceAllele": "G", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-2156G>A" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-2156G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "@id": "http://reg.genome.network/allele/PA2580454266", "coordinates": [ { "allele": "A", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.1840G>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Val614Met", "hgvsWellDefined": "NP_071900.2:p.Val614Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.1840G>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.1840G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Val614Met" }, "RefSeq": { "hgvs": "NP_071900.2:p.Val614Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1033G>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Val345Met", "hgvsWellDefined": "NP_758859.1:p.Val345Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }