{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384555767", "communityStandardTitle": [ "NM_000289.6(PFKM):c.2018G>T (p.Arg673Met)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=939787", "active": true, "id": "COSM939787" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1586474", "active": true, "id": "COSM1586474" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48538839G>T?assembly=hg19", "id": "chr12:g.48538839G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48145056G>T?assembly=hg38", "id": "chr12:g.48145056G>T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48145056, "referenceAllele": "G", "start": 48145055 } ], "hgvs": [ "NC_000012.12:g.48145056G>T", "CM000674.2:g.48145056G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48538839, "referenceAllele": "G", "start": 48538838 } ], "hgvs": [ "NC_000012.11:g.48538839G>T", "CM000674.1:g.48538839G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46825106, "referenceAllele": "G", "start": 46825105 } ], "hgvs": [ "NC_000012.10:g.46825106G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 44184, "referenceAllele": "G", "start": 44183 } ], "hgvs": [ "NG_016199.1:g.44184G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 44804, "referenceAllele": "G", "start": 44803 } ], "hgvs": [ "NG_016199.2:g.44804G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2364, "referenceAllele": "G", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.2240G>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Arg747Met", "hgvsWellDefined": "ENSP00000447997.3:p.Arg747Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.2231G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg744Met", "hgvsWellDefined": "ENSP00000345771.6:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "G", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg673Met", "hgvsWellDefined": "ENSP00000352842.5:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.2018G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.2018G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg673Met" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg673Met" } } } }, { "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.1760G>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Arg587Met", "hgvsWellDefined": "ENSP00000446829.3:p.Arg587Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 2307, "referenceAllele": "G", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Arg673Met", "hgvsWellDefined": "ENSP00000450369.2:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 2216, "referenceAllele": "G", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Arg673Met", "hgvsWellDefined": "ENSP00000446945.2:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 2162, "referenceAllele": "G", "start": 2161 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Arg673Met", "hgvsWellDefined": "ENSP00000448253.2:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 2471, "referenceAllele": "G", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.2327G>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Arg776Met", "hgvsWellDefined": "ENSP00000496597.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Arg673Met", "hgvsWellDefined": "ENSP00000309438.7:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.2231G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg744Met", "hgvsWellDefined": "ENSP00000345771.6:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 2207, "referenceAllele": "G", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg673Met", "hgvsWellDefined": "ENSP00000352842.5:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "T", "end": 2342, "referenceAllele": "G", "start": 2341 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.2342G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "T", "end": 2858, "referenceAllele": "G", "start": 2857 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*2286G>T" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*2286G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.2018G>T" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Arg673Met", "hgvsWellDefined": "ENSP00000449426.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "G", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.1925G>T" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Arg642Met", "hgvsWellDefined": "ENSP00000448177.1:p.Arg642Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 2203, "referenceAllele": "G", "start": 2202 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg673Met", "hgvsWellDefined": "NP_000280.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.2231G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg744Met", "hgvsWellDefined": "NP_001160158.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg673Met", "hgvsWellDefined": "NP_001160159.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg673Met", "hgvsWellDefined": "NP_001160160.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "G", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.2327G>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Arg776Met", "hgvsWellDefined": "XP_005269031.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 2541, "referenceAllele": "G", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.2327G>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Arg776Met", "hgvsWellDefined": "XP_005269032.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.2327G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg776Met", "hgvsWellDefined": "XP_005269033.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.2231G>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Arg744Met", "hgvsWellDefined": "XP_005269034.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 2301, "referenceAllele": "G", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.2231G>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Arg744Met", "hgvsWellDefined": "XP_005269035.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.2231G>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Arg744Met", "hgvsWellDefined": "XP_005269036.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 2243, "referenceAllele": "G", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.2234G>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Arg745Met", "hgvsWellDefined": "XP_011536789.1:p.Arg745Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.2018G>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Arg673Met", "hgvsWellDefined": "XP_011536790.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "G", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg673Met", "hgvsWellDefined": "NP_000280.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.2018G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.2018G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg673Met" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg673Met" } } } }, { "coordinates": [ { "allele": "T", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.2231G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg744Met", "hgvsWellDefined": "NP_001160158.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "G", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.2327G>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Arg776Met", "hgvsWellDefined": "NP_001341664.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "coordinates": [ { "allele": "T", "end": 2532, "referenceAllele": "G", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.2327G>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Arg776Met", "hgvsWellDefined": "NP_001341665.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "coordinates": [ { "allele": "T", "end": 2436, "referenceAllele": "G", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.2231G>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Arg744Met", "hgvsWellDefined": "NP_001341666.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "G", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.2231G>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Arg744Met", "hgvsWellDefined": "NP_001341667.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "G", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.2231G>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Arg744Met", "hgvsWellDefined": "NP_001341668.1:p.Arg744Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "coordinates": [ { "allele": "T", "end": 2259, "referenceAllele": "G", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.2162G>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Arg721Met", "hgvsWellDefined": "NP_001341669.1:p.Arg721Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "coordinates": [ { "allele": "T", "end": 2289, "referenceAllele": "G", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.2042G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg681Met", "hgvsWellDefined": "NP_001341670.1:p.Arg681Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "coordinates": [ { "allele": "T", "end": 2193, "referenceAllele": "G", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg673Met", "hgvsWellDefined": "NP_001341671.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "coordinates": [ { "allele": "T", "end": 2216, "referenceAllele": "G", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg673Met", "hgvsWellDefined": "NP_001341672.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "coordinates": [ { "allele": "T", "end": 2251, "referenceAllele": "G", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg673Met", "hgvsWellDefined": "NP_001341673.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "coordinates": [ { "allele": "T", "end": 2441, "referenceAllele": "G", "start": 2440 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.1931G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg644Met", "hgvsWellDefined": "NP_001341674.1:p.Arg644Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "coordinates": [ { "allele": "T", "end": 2077, "referenceAllele": "G", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.1892G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg631Met", "hgvsWellDefined": "NP_001341675.1:p.Arg631Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.1868G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg623Met", "hgvsWellDefined": "NP_001341676.1:p.Arg623Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "coordinates": [ { "allele": "T", "end": 2129, "referenceAllele": "G", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.1868G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg623Met", "hgvsWellDefined": "NP_001341677.1:p.Arg623Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.1925G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg642Met", "hgvsWellDefined": "NP_001350548.1:p.Arg642Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.2455G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 3091, "referenceAllele": "G", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.3091G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 2381, "referenceAllele": "G", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.2381G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "G", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.2610G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.2358G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 2284, "referenceAllele": "G", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.2284G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.2327G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg776Met", "hgvsWellDefined": "XP_005269033.1:p.Arg776Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 2295, "referenceAllele": "G", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.2138G>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Arg713Met", "hgvsWellDefined": "XP_016874958.1:p.Arg713Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 2364, "referenceAllele": "G", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.2240G>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Arg747Met", "hgvsWellDefined": "XP_024304788.1:p.Arg747Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 2253, "referenceAllele": "G", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.2117G>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Arg706Met", "hgvsWellDefined": "XP_024304789.1:p.Arg706Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 2169, "referenceAllele": "G", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.2018G>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Arg673Met", "hgvsWellDefined": "XP_024304790.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg673Met", "hgvsWellDefined": "NP_001160159.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg673Met", "hgvsWellDefined": "NP_001160160.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "G", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.2042G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg681Met", "hgvsWellDefined": "NP_001341670.1:p.Arg681Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "G", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg673Met", "hgvsWellDefined": "NP_001341671.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "G", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg673Met", "hgvsWellDefined": "NP_001341672.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "coordinates": [ { "allele": "T", "end": 2117, "referenceAllele": "G", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.2018G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg673Met", "hgvsWellDefined": "NP_001341673.1:p.Arg673Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "coordinates": [ { "allele": "T", "end": 2307, "referenceAllele": "G", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.1931G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg644Met", "hgvsWellDefined": "NP_001341674.1:p.Arg644Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "coordinates": [ { "allele": "T", "end": 1943, "referenceAllele": "G", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.1892G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg631Met", "hgvsWellDefined": "NP_001341675.1:p.Arg631Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "coordinates": [ { "allele": "T", "end": 2019, "referenceAllele": "G", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.1868G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg623Met", "hgvsWellDefined": "NP_001341676.1:p.Arg623Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.1868G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg623Met", "hgvsWellDefined": "NP_001341677.1:p.Arg623Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "coordinates": [ { "allele": "T", "end": 1976, "referenceAllele": "G", "start": 1975 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.1925G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg642Met", "hgvsWellDefined": "NP_001350548.1:p.Arg642Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 2321, "referenceAllele": "G", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.2321G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.2247G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.2476G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "G", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.2224G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 2150, "referenceAllele": "G", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.2150G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }