{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294930", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168208[alleleid]", "alleleId": 168208, "preferredName": "NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159356", "RCV": [ "RCV003231256" ], "variationId": 159356 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176687044G>A?assembly=hg19", "id": "chr5:g.176687044G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177260043G>A?assembly=hg38", "id": "chr5:g.177260043G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784135", "rs": 587784135 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 177260043, "referenceAllele": "G", "start": 177260042 } ], "hgvs": [ "NC_000005.10:g.177260043G>A", "CM000667.2:g.177260043G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176687044, "referenceAllele": "G", "start": 176687043 } ], "hgvs": [ "NC_000005.9:g.176687044G>A", "CM000667.1:g.176687044G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176619650, "referenceAllele": "G", "start": 176619649 } ], "hgvs": [ "NC_000005.8:g.176619650G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 131965, "referenceAllele": "G", "start": 131964 } ], "hgvs": [ "NG_009821.1:g.131965G>A", "LRG_512:g.131965G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4403, "referenceAllele": "G", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Cys1383Tyr", "hgvsWellDefined": "ENSP00000423372.3:p.Cys1383Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "A", "end": 4315, "referenceAllele": "G", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Cys1383Tyr", "hgvsWellDefined": "ENSP00000343209.5:p.Cys1383Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "A", "end": 4374, "referenceAllele": "G", "start": 4373 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Cys1383Tyr", "hgvsWellDefined": "ENSP00000346111.5:p.Cys1383Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "G", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.4604G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "A", "end": 4333, "referenceAllele": "G", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Cys1383Tyr", "hgvsWellDefined": "ENSP00000510020.1:p.Cys1383Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "A", "end": 4730, "referenceAllele": "G", "start": 4729 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.4712G>A" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Cys1571Tyr", "hgvsWellDefined": "ENSP00000508426.1:p.Cys1571Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "A", "end": 4418, "referenceAllele": "G", "start": 4417 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.4418G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "A", "end": 4351, "referenceAllele": "G", "start": 4350 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Cys1383Tyr", "hgvsWellDefined": "ENSP00000509711.1:p.Cys1383Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "A", "end": 5168, "referenceAllele": "G", "start": 5167 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.5168G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "A", "end": 5218, "referenceAllele": "G", "start": 5217 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5021G>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Cys1674Tyr", "hgvsWellDefined": "ENSP00000395929.2:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5021G>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.5021G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Cys1674Tyr" }, "RefSeq": { "hgvs": "NP_071900.2:p.Cys1674Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 4315, "referenceAllele": "G", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.4214G>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Cys1405Tyr", "hgvsWellDefined": "ENSP00000343209.4:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "A", "end": 4374, "referenceAllele": "G", "start": 4373 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.4214G>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Cys1405Tyr", "hgvsWellDefined": "ENSP00000346111.4:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "A", "end": 5066, "referenceAllele": "G", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5021G>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Cys1674Tyr", "hgvsWellDefined": "ENSP00000395929.2:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "@id": "http://reg.genome.network/allele/PA294932", "coordinates": [ { "allele": "A", "end": 5159, "referenceAllele": "G", "start": 5158 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5021G>A", "LRG_512t1:c.5021G>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Cys1674Tyr", "hgvsWellDefined": "NP_071900.2:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "A", "end": 4374, "referenceAllele": "G", "start": 4373 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.4214G>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Cys1405Tyr", "hgvsWellDefined": "NP_758859.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "A", "end": 5168, "referenceAllele": "G", "start": 5167 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_005266016.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "A", "end": 4315, "referenceAllele": "G", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.4214G>A" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Cys1405Tyr", "hgvsWellDefined": "XP_005266017.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "A", "end": 4333, "referenceAllele": "G", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.4214G>A" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Cys1405Tyr", "hgvsWellDefined": "XP_005266018.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.515G>A" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Cys172Tyr", "hgvsWellDefined": "XP_005266019.1:p.Cys172Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "A", "end": 5090, "referenceAllele": "G", "start": 5089 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_011532912.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "A", "end": 5061, "referenceAllele": "G", "start": 5060 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_011532913.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "A", "end": 4804, "referenceAllele": "G", "start": 4803 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Cys1534Tyr", "hgvsWellDefined": "XP_011532914.1:p.Cys1534Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "A", "end": 4156, "referenceAllele": "G", "start": 4155 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.3965G>A" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Cys1322Tyr", "hgvsWellDefined": "XP_011532915.1:p.Cys1322Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "A", "end": 5227, "referenceAllele": "G", "start": 5226 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534614.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_011532916.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_011532916.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101626" }, { "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Cys252Tyr", "hgvsWellDefined": "XP_011532919.1:p.Cys252Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "A", "end": 4315, "referenceAllele": "G", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.4214G>A" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Cys1405Tyr", "hgvsWellDefined": "NP_001352613.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "A", "end": 5168, "referenceAllele": "G", "start": 5167 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_024301918.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "A", "end": 5143, "referenceAllele": "G", "start": 5142 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_024301919.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "A", "end": 5097, "referenceAllele": "G", "start": 5096 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_024301920.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "A", "end": 5792, "referenceAllele": "G", "start": 5791 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_024301921.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "A", "end": 4809, "referenceAllele": "G", "start": 4808 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Cys1534Tyr", "hgvsWellDefined": "XP_024301922.1:p.Cys1534Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "A", "end": 4507, "referenceAllele": "G", "start": 4506 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.4214G>A" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Cys1405Tyr", "hgvsWellDefined": "XP_024301923.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "A", "end": 4354, "referenceAllele": "G", "start": 4353 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.4214G>A" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Cys1405Tyr", "hgvsWellDefined": "XP_024301924.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.4214G>A" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Cys1405Tyr", "hgvsWellDefined": "XP_024301926.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "A", "end": 4192, "referenceAllele": "G", "start": 4191 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.3965G>A" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Cys1322Tyr", "hgvsWellDefined": "XP_024301927.1:p.Cys1322Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "A", "end": 5247, "referenceAllele": "G", "start": 5246 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Cys1674Tyr", "hgvsWellDefined": "XP_024301928.1:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "A", "end": 3869, "referenceAllele": "G", "start": 3868 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Cys252Tyr", "hgvsWellDefined": "XP_024301930.1:p.Cys252Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.515G>A" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Cys172Tyr", "hgvsWellDefined": "XP_024301931.1:p.Cys172Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA294932", "coordinates": [ { "allele": "A", "end": 5218, "referenceAllele": "G", "start": 5217 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5021G>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Cys1674Tyr", "hgvsWellDefined": "NP_071900.2:p.Cys1674Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5021G>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.5021G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Cys1674Tyr" }, "RefSeq": { "hgvs": "NP_071900.2:p.Cys1674Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 4438, "referenceAllele": "G", "start": 4437 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.4214G>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Cys1405Tyr", "hgvsWellDefined": "NP_758859.1:p.Cys1405Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }