{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278021", "communityStandardTitle": [ "NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16949[alleleid]", "alleleId": 16949, "preferredName": "NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1910", "RCV": [ "RCV000001987" ], "variationId": 1910 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/21-38132082-C-T", "id": "21-38132082-C-T", "variant": "21:38132082 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.38132082C>T?assembly=hg19", "id": "chr21:g.38132082C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.36759781C>T?assembly=hg38", "id": "chr21:g.36759781C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119103230", "rs": 119103230 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/21-38132082-C-T?dataset=gnomad_r2_1", "id": "21-38132082-C-T", "variant": "21:38132082 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/21-36759781-C-T?dataset=gnomad_r4", "id": "21-36759781-C-T", "variant": "21:36759781 C / T" } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 36759781, "referenceAllele": "C", "start": 36759780 } ], "hgvs": [ "NC_000021.9:g.36759781C>T", "CM000683.2:g.36759781C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 38132082, "referenceAllele": "C", "start": 38132081 } ], "hgvs": [ "NC_000021.8:g.38132082C>T", "CM000683.1:g.38132082C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 37053952, "referenceAllele": "C", "start": 37053951 } ], "hgvs": [ "NC_000021.7:g.37053952C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "A", "end": 235455, "referenceAllele": "G", "start": 235454 } ], "hgvs": [ "NG_016193.1:g.235455G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002999" }, { "coordinates": [ { "allele": "A", "end": 235614, "referenceAllele": "G", "start": 235613 } ], "hgvs": [ "NG_016193.2:g.235614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000674895.3:c.2182G>A" ], "proteinEffect": { "hgvs": "ENSP00000502087.2:p.Gly728Ser", "hgvsWellDefined": "ENSP00000502087.2:p.Gly728Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS826898", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674895.3:c.2182G>A" }, "RefSeq": { "hgvs": "NM_001352514.2:c.2182G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502087.2:p.Gly728Ser" }, "RefSeq": { "hgvs": "NP_001339443.1:p.Gly728Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000674895.2:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000502087.1:p.Gly581Ser", "hgvsWellDefined": "ENSP00000502087.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774785" }, { "coordinates": [ { "allele": "A", "end": 2064, "referenceAllele": "G", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000675057.1:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000501832.1:p.Gly581Ser", "hgvsWellDefined": "ENSP00000501832.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774931" }, { "coordinates": [ { "allele": "A", "end": 2136, "referenceAllele": "G", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000675307.1:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000501750.1:p.Gly581Ser", "hgvsWellDefined": "ENSP00000501750.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775144" }, { "coordinates": [ { "allele": "A", "end": 2212, "referenceAllele": "G", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000336648.8:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000338387.3:p.Gly581Ser", "hgvsWellDefined": "ENSP00000338387.3:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS260338" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "G", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000399120.5:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000382071.1:p.Gly581Ser", "hgvsWellDefined": "ENSP00000382071.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS278551" }, { "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000612277.4:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000479939.1:p.Gly581Ser", "hgvsWellDefined": "ENSP00000479939.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS401237" }, { "@id": "http://reg.genome.network/allele/PA105236", "coordinates": [ { "allele": "A", "end": 2221, "referenceAllele": "G", "start": 2220 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.6:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Gly581Ser", "hgvsWellDefined": "NP_000402.3:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006473" }, { "@id": "http://reg.genome.network/allele/PA2826304478", "coordinates": [ { "allele": "A", "end": 3155, "referenceAllele": "G", "start": 3154 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Gly581Ser", "hgvsWellDefined": "NP_001229713.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS018238" }, { "@id": "http://reg.genome.network/allele/PA2826305037", "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242785.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001229714.1:p.Gly581Ser", "hgvsWellDefined": "NP_001229714.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS018239" }, { "coordinates": [ { "allele": "A", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260953.2:c.2182G>A" ], "proteinEffect": { "hgvs": "XP_005261010.1:p.Gly728Ser", "hgvsWellDefined": "XP_005261010.1:p.Gly728Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS062989" }, { "coordinates": [ { "allele": "A", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260954.1:c.2182G>A" ], "proteinEffect": { "hgvs": "XP_005261011.1:p.Gly728Ser", "hgvsWellDefined": "XP_005261011.1:p.Gly728Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS062990" }, { "coordinates": [ { "allele": "A", "end": 2054, "referenceAllele": "G", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260955.2:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_005261012.1:p.Gly581Ser", "hgvsWellDefined": "XP_005261012.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS062991" }, { "coordinates": [ { "allele": "A", "end": 2230, "referenceAllele": "G", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260956.2:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_005261013.1:p.Gly581Ser", "hgvsWellDefined": "XP_005261013.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS062992" }, { "coordinates": [ { "allele": "A", "end": 2168, "referenceAllele": "G", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_006723994.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006724057.1:p.Gly581Ser", "hgvsWellDefined": "XP_006724057.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS075310" }, { "coordinates": [ { "allele": "A", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_006723995.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_006724058.1:p.Gly581Ser", "hgvsWellDefined": "XP_006724058.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS075311" }, { "coordinates": [ { "allele": "A", "end": 2201, "referenceAllele": "G", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529538.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_011527840.1:p.Gly581Ser", "hgvsWellDefined": "XP_011527840.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096607" }, { "coordinates": [ { "allele": "A", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529539.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_011527841.1:p.Gly581Ser", "hgvsWellDefined": "XP_011527841.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096608" }, { "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "G", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529541.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_011527843.1:p.Gly581Ser", "hgvsWellDefined": "XP_011527843.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096610" }, { "@id": "http://reg.genome.network/allele/PA105236", "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.7:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Gly581Ser", "hgvsWellDefined": "NP_000402.3:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510791" }, { "@id": "http://reg.genome.network/allele/PA2826304478", "coordinates": [ { "allele": "A", "end": 3189, "referenceAllele": "G", "start": 3188 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Gly581Ser", "hgvsWellDefined": "NP_001229713.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511912" }, { "@id": "http://reg.genome.network/allele/PA2826305037", "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242785.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001229714.1:p.Gly581Ser", "hgvsWellDefined": "NP_001229714.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511913" }, { "@id": "http://reg.genome.network/allele/PA916035404", "coordinates": [ { "allele": "A", "end": 2234, "referenceAllele": "G", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352514.1:c.2182G>A" ], "proteinEffect": { "hgvs": "NP_001339443.1:p.Gly728Ser", "hgvsWellDefined": "NP_001339443.1:p.Gly728Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520953" }, { "@id": "http://reg.genome.network/allele/PA2827652607", "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "G", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352515.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339444.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339444.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520954" }, { "@id": "http://reg.genome.network/allele/PA2827653168", "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352516.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339445.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339445.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520955" }, { "@id": "http://reg.genome.network/allele/PA2827653728", "coordinates": [ { "allele": "A", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352517.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339446.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339446.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520956" }, { "@id": "http://reg.genome.network/allele/PA2827654252", "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352518.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339447.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339447.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520957" }, { "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "G", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148020.1:n.2224G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530994" }, { "coordinates": [ { "allele": "A", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148021.1:n.2198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530995" }, { "coordinates": [ { "allele": "A", "end": 2207, "referenceAllele": "G", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529539.3:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_011527841.1:p.Gly581Ser", "hgvsWellDefined": "XP_011527841.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS549542" }, { "coordinates": [ { "allele": "A", "end": 2004, "referenceAllele": "G", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_017028330.1:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_016883819.1:p.Gly581Ser", "hgvsWellDefined": "XP_016883819.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578098" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_024452065.1:c.1570G>A" ], "proteinEffect": { "hgvs": "XP_024307833.1:p.Gly524Ser", "hgvsWellDefined": "XP_024307833.1:p.Gly524Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS585569" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_024452066.1:c.1570G>A" ], "proteinEffect": { "hgvs": "XP_024307834.1:p.Gly524Ser", "hgvsWellDefined": "XP_024307834.1:p.Gly524Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS585570" }, { "coordinates": [ { "allele": "A", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754835.1:n.2183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600833" }, { "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754836.1:n.2022G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600834" }, { "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754837.2:n.2022G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600835" }, { "coordinates": [ { "allele": "A", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754840.1:n.2232G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600836" }, { "@id": "http://reg.genome.network/allele/PA105236", "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "G", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.8:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Gly581Ser", "hgvsWellDefined": "NP_000402.3:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674833" }, { "@id": "http://reg.genome.network/allele/PA2826304478", "coordinates": [ { "allele": "A", "end": 3168, "referenceAllele": "G", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.3:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Gly581Ser", "hgvsWellDefined": "NP_001229713.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680119" }, { "@id": "http://reg.genome.network/allele/PA916035404", "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352514.2:c.2182G>A" ], "proteinEffect": { "hgvs": "NP_001339443.1:p.Gly728Ser", "hgvsWellDefined": "NP_001339443.1:p.Gly728Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689292", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674895.3:c.2182G>A" }, "RefSeq": { "hgvs": "NM_001352514.2:c.2182G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502087.2:p.Gly728Ser" }, "RefSeq": { "hgvs": "NP_001339443.1:p.Gly728Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827652607", "coordinates": [ { "allele": "A", "end": 2041, "referenceAllele": "G", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352515.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339444.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339444.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689293" }, { "@id": "http://reg.genome.network/allele/PA2827653168", "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352516.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339445.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339445.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689294" }, { "coordinates": [ { "allele": "A", "end": 2041, "referenceAllele": "G", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148020.2:n.2041G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704672" }, { "@id": "http://reg.genome.network/allele/PA2827654252", "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352518.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001339447.1:p.Gly581Ser", "hgvsWellDefined": "NP_001339447.1:p.Gly581Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720071" } ], "type": "nucleotide" }