{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6536889", "communityStandardTitle": [ "NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1874482[alleleid]", "alleleId": 1874482, "preferredName": "NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137355", "RCV": [ "RCV003062509" ], "variationId": 2137355 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-48524176-G-A", "id": "12-48524176-G-A", "variant": "12:48524176 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48524176G>A?assembly=hg19", "id": "chr12:g.48524176G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48130393G>A?assembly=hg38", "id": "chr12:g.48130393G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918193", "rs": 121918193 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48524176-G-A?dataset=gnomad_r2_1", "id": "12-48524176-G-A", "variant": "12:48524176 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48130393-G-A?dataset=gnomad_r3", "id": "12-48130393-G-A", "variant": "12:48130393 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48130393-G-A?dataset=gnomad_r4", "id": "12-48130393-G-A", "variant": "12:48130393 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48130393, "referenceAllele": "G", "start": 48130392 } ], "hgvs": [ "NC_000012.12:g.48130393G>A", "CM000674.2:g.48130393G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48524176, "referenceAllele": "G", "start": 48524175 } ], "hgvs": [ "NC_000012.11:g.48524176G>A", "CM000674.1:g.48524176G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 46810443, "referenceAllele": "G", "start": 46810442 } ], "hgvs": [ "NC_000012.10:g.46810443G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 29521, "referenceAllele": "G", "start": 29520 } ], "hgvs": [ "NG_016199.1:g.29521G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "A", "end": 30141, "referenceAllele": "G", "start": 30140 } ], "hgvs": [ "NG_016199.2:g.30141G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.338G>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Arg113Gln", "hgvsWellDefined": "ENSP00000447997.3:p.Arg113Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg110Gln", "hgvsWellDefined": "ENSP00000345771.6:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg39Gln", "hgvsWellDefined": "ENSP00000352842.5:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.116G>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.116G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg39Gln" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg39Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Arg39Gln", "hgvsWellDefined": "ENSP00000446829.3:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.6:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.2:p.Arg75Gln", "hgvsWellDefined": "ENSP00000447997.2:p.Arg75Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759954" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Arg39Gln", "hgvsWellDefined": "ENSP00000450369.2:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Arg39Gln", "hgvsWellDefined": "ENSP00000446945.2:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Arg39Gln", "hgvsWellDefined": "ENSP00000448253.2:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Arg142Gln", "hgvsWellDefined": "ENSP00000496597.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Arg39Gln", "hgvsWellDefined": "ENSP00000309438.7:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg110Gln", "hgvsWellDefined": "ENSP00000345771.6:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg39Gln", "hgvsWellDefined": "ENSP00000352842.5:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "A", "end": 140, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 140, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.85+7534G>A" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:n.85+7534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "A", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.188G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547066.5:c.*132G>A" ], "proteinEffect": { "hgvs": "ENSP00000448318.1:n.*132G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS366049" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*132G>A" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*132G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000449426.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000548288.5:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000448018.1:p.Arg110Gln", "hgvsWellDefined": "ENSP00000448018.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS366774" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000548345.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000449269.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000449269.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS366803" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000548720.5:n.183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS367027" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549003.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000449835.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000449835.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367197" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549022.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000446805.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000446805.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367208" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549366.5:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000449622.1:p.Arg142Gln", "hgvsWellDefined": "ENSP00000449622.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367418" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.5:c.215G>A" ], "proteinEffect": { "hgvs": "ENSP00000446829.1:p.Arg72Gln", "hgvsWellDefined": "ENSP00000446829.1:p.Arg72Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367750" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.5:c.338G>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.1:p.Arg113Gln", "hgvsWellDefined": "ENSP00000447997.1:p.Arg113Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367942" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000450369.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000450369.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS367988" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000446945.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000446945.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS368355" }, { "coordinates": [ { "allele": "A", "end": 223, "referenceAllele": "G", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000448253.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000448253.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS368609" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551485.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000448315.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000448315.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS368689" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551548.5:n.179G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS368723" }, { "coordinates": [ { "allele": "A", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000448177.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "A", "end": 506, "referenceAllele": "G", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552792.5:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000448940.1:p.Arg110Gln", "hgvsWellDefined": "ENSP00000448940.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS369448" }, { "coordinates": [ { "allele": "A", "end": 149, "endIntronDirection": "-", "endIntronOffset": 3845, "referenceAllele": "G", "start": 149, "startIntronDirection": "-", "startIntronOffset": 3846 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.86-3846G>A" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.86-3846G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "coordinates": [ { "allele": "A", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000629846.2:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000486196.1:p.Arg39Gln", "hgvsWellDefined": "ENSP00000486196.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS407281" }, { "@id": "http://reg.genome.network/allele/PA2825141592", "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.116G>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg39Gln", "hgvsWellDefined": "NP_000280.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826033996", "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg110Gln", "hgvsWellDefined": "NP_001160158.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034447", "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg39Gln", "hgvsWellDefined": "NP_001160159.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826034903", "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg39Gln", "hgvsWellDefined": "NP_001160160.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Arg142Gln", "hgvsWellDefined": "XP_005269031.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Arg142Gln", "hgvsWellDefined": "XP_005269032.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "G", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg142Gln", "hgvsWellDefined": "XP_005269033.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Arg110Gln", "hgvsWellDefined": "XP_005269034.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.329G>A" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Arg110Gln", "hgvsWellDefined": "XP_005269035.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Arg110Gln", "hgvsWellDefined": "XP_005269036.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Arg142Gln", "hgvsWellDefined": "XP_011536789.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.116G>A" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Arg39Gln", "hgvsWellDefined": "XP_011536790.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141592", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.116G>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg39Gln", "hgvsWellDefined": "NP_000280.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.116G>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.116G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg39Gln" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg39Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826033996", "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg110Gln", "hgvsWellDefined": "NP_001160158.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929105", "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Arg142Gln", "hgvsWellDefined": "NP_001341664.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2827929571", "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Arg142Gln", "hgvsWellDefined": "NP_001341665.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827929894", "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "G", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Arg110Gln", "hgvsWellDefined": "NP_001341666.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930359", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Arg110Gln", "hgvsWellDefined": "NP_001341667.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930809", "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Arg110Gln", "hgvsWellDefined": "NP_001341668.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2580229166", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.260G>A" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Arg87Gln", "hgvsWellDefined": "NP_001341669.1:p.Arg87Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931716", "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.140G>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg47Gln", "hgvsWellDefined": "NP_001341670.1:p.Arg47Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932168", "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341671.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932623", "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341672.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933080", "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341673.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933524", "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.29G>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg10Gln", "hgvsWellDefined": "NP_001341674.1:p.Arg10Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827933974", "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341675.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "coordinates": [ { "allele": "A", "end": 260, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 260, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.10-923G>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:n.10-923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "coordinates": [ { "allele": "A", "end": 270, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 270, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.10-923G>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:n.10-923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100411", "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg39Gln", "hgvsWellDefined": "NP_001350548.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.301G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.937G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "A", "end": 270, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 270, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.271-923G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.301G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.301G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "A", "end": 270, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 270, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.271-923G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.425G>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg142Gln", "hgvsWellDefined": "XP_005269033.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Arg110Gln", "hgvsWellDefined": "XP_016874958.1:p.Arg110Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.338G>A" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Arg113Gln", "hgvsWellDefined": "XP_024304788.1:p.Arg113Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.215G>A" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Arg72Gln", "hgvsWellDefined": "XP_024304789.1:p.Arg72Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "A", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.116G>A" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Arg39Gln", "hgvsWellDefined": "XP_024304790.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034447", "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg39Gln", "hgvsWellDefined": "NP_001160159.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826034903", "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg39Gln", "hgvsWellDefined": "NP_001160160.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931716", "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.140G>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg47Gln", "hgvsWellDefined": "NP_001341670.1:p.Arg47Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932168", "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341671.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932623", "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341672.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933080", "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341673.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933524", "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.29G>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg10Gln", "hgvsWellDefined": "NP_001341674.1:p.Arg10Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827933974", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg39Gln", "hgvsWellDefined": "NP_001341675.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "coordinates": [ { "allele": "A", "end": 160, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 160, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.10-923G>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:n.10-923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "coordinates": [ { "allele": "A", "end": 136, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 136, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.10-923G>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:n.10-923G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100411", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.116G>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg39Gln", "hgvsWellDefined": "NP_001350548.1:p.Arg39Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.167G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "A", "end": 136, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 136, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.137-923G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.167G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.167G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "A", "end": 136, "endIntronDirection": "-", "endIntronOffset": 922, "referenceAllele": "G", "start": 136, "startIntronDirection": "-", "startIntronOffset": 923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.137-923G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }