{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384555925", "communityStandardTitle": [ "NM_000289.6(PFKM):c.2087G>C (p.Arg696Pro)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48538908G>C?assembly=hg19", "id": "chr12:g.48538908G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48145125G>C?assembly=hg38", "id": "chr12:g.48145125G>C" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 48145125, "referenceAllele": "G", "start": 48145124 } ], "hgvs": [ "NC_000012.12:g.48145125G>C", "CM000674.2:g.48145125G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 48538908, "referenceAllele": "G", "start": 48538907 } ], "hgvs": [ "NC_000012.11:g.48538908G>C", "CM000674.1:g.48538908G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 46825175, "referenceAllele": "G", "start": 46825174 } ], "hgvs": [ "NC_000012.10:g.46825175G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "C", "end": 44253, "referenceAllele": "G", "start": 44252 } ], "hgvs": [ "NG_016199.1:g.44253G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "C", "end": 44873, "referenceAllele": "G", "start": 44872 } ], "hgvs": [ "NG_016199.2:g.44873G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.2309G>C" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Arg770Pro", "hgvsWellDefined": "ENSP00000447997.3:p.Arg770Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "C", "end": 2524, "referenceAllele": "G", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.2300G>C" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg767Pro", "hgvsWellDefined": "ENSP00000345771.6:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "C", "end": 2138, "referenceAllele": "G", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg696Pro", "hgvsWellDefined": "ENSP00000352842.5:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.2087G>C" }, "RefSeq": { "hgvs": "NM_000289.6:c.2087G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg696Pro" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg696Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2064, "referenceAllele": "G", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.1829G>C" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Arg610Pro", "hgvsWellDefined": "ENSP00000446829.3:p.Arg610Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "C", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Arg696Pro", "hgvsWellDefined": "ENSP00000450369.2:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "C", "end": 2285, "referenceAllele": "G", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Arg696Pro", "hgvsWellDefined": "ENSP00000446945.2:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "C", "end": 2231, "referenceAllele": "G", "start": 2230 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Arg696Pro", "hgvsWellDefined": "ENSP00000448253.2:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "C", "end": 2540, "referenceAllele": "G", "start": 2539 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.2396G>C" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Arg799Pro", "hgvsWellDefined": "ENSP00000496597.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "C", "end": 2126, "referenceAllele": "G", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Arg696Pro", "hgvsWellDefined": "ENSP00000309438.7:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "C", "end": 2524, "referenceAllele": "G", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.2300G>C" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg767Pro", "hgvsWellDefined": "ENSP00000345771.6:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "C", "end": 2276, "referenceAllele": "G", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg696Pro", "hgvsWellDefined": "ENSP00000352842.5:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "C", "end": 2411, "referenceAllele": "G", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.2411G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "C", "end": 2927, "referenceAllele": "G", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*2355G>C" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*2355G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "C", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.2087G>C" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Arg696Pro", "hgvsWellDefined": "ENSP00000449426.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "C", "end": 2145, "referenceAllele": "G", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.1994G>C" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Arg665Pro", "hgvsWellDefined": "ENSP00000448177.1:p.Arg665Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "C", "end": 2272, "referenceAllele": "G", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg696Pro", "hgvsWellDefined": "NP_000280.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "coordinates": [ { "allele": "C", "end": 2574, "referenceAllele": "G", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.2300G>C" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg767Pro", "hgvsWellDefined": "NP_001160158.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "coordinates": [ { "allele": "C", "end": 2126, "referenceAllele": "G", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg696Pro", "hgvsWellDefined": "NP_001160159.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "coordinates": [ { "allele": "C", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg696Pro", "hgvsWellDefined": "NP_001160160.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "C", "end": 2471, "referenceAllele": "G", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.2396G>C" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Arg799Pro", "hgvsWellDefined": "XP_005269031.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "C", "end": 2610, "referenceAllele": "G", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.2396G>C" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Arg799Pro", "hgvsWellDefined": "XP_005269032.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "C", "end": 2515, "referenceAllele": "G", "start": 2514 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.2396G>C" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg799Pro", "hgvsWellDefined": "XP_005269033.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "C", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.2300G>C" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Arg767Pro", "hgvsWellDefined": "XP_005269034.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "C", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.2300G>C" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Arg767Pro", "hgvsWellDefined": "XP_005269035.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "C", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.2300G>C" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Arg767Pro", "hgvsWellDefined": "XP_005269036.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "C", "end": 2312, "referenceAllele": "G", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.2303G>C" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Arg768Pro", "hgvsWellDefined": "XP_011536789.1:p.Arg768Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "C", "end": 2113, "referenceAllele": "G", "start": 2112 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.2087G>C" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Arg696Pro", "hgvsWellDefined": "XP_011536790.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "coordinates": [ { "allele": "C", "end": 2138, "referenceAllele": "G", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg696Pro", "hgvsWellDefined": "NP_000280.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.2087G>C" }, "RefSeq": { "hgvs": "NM_000289.6:c.2087G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg696Pro" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg696Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2524, "referenceAllele": "G", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.2300G>C" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg767Pro", "hgvsWellDefined": "NP_001160158.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "coordinates": [ { "allele": "C", "end": 2542, "referenceAllele": "G", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.2396G>C" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Arg799Pro", "hgvsWellDefined": "NP_001341664.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "coordinates": [ { "allele": "C", "end": 2601, "referenceAllele": "G", "start": 2600 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.2396G>C" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Arg799Pro", "hgvsWellDefined": "NP_001341665.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "coordinates": [ { "allele": "C", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.2300G>C" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Arg767Pro", "hgvsWellDefined": "NP_001341666.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "coordinates": [ { "allele": "C", "end": 2375, "referenceAllele": "G", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.2300G>C" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Arg767Pro", "hgvsWellDefined": "NP_001341667.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "coordinates": [ { "allele": "C", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.2300G>C" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Arg767Pro", "hgvsWellDefined": "NP_001341668.1:p.Arg767Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "coordinates": [ { "allele": "C", "end": 2328, "referenceAllele": "G", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.2231G>C" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Arg744Pro", "hgvsWellDefined": "NP_001341669.1:p.Arg744Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "coordinates": [ { "allele": "C", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.2111G>C" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg704Pro", "hgvsWellDefined": "NP_001341670.1:p.Arg704Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "coordinates": [ { "allele": "C", "end": 2262, "referenceAllele": "G", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341671.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "coordinates": [ { "allele": "C", "end": 2285, "referenceAllele": "G", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341672.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "coordinates": [ { "allele": "C", "end": 2320, "referenceAllele": "G", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341673.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "coordinates": [ { "allele": "C", "end": 2510, "referenceAllele": "G", "start": 2509 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.2000G>C" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg667Pro", "hgvsWellDefined": "NP_001341674.1:p.Arg667Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "coordinates": [ { "allele": "C", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.1961G>C" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg654Pro", "hgvsWellDefined": "NP_001341675.1:p.Arg654Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "coordinates": [ { "allele": "C", "end": 2188, "referenceAllele": "G", "start": 2187 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.1937G>C" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg646Pro", "hgvsWellDefined": "NP_001341676.1:p.Arg646Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "coordinates": [ { "allele": "C", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.1937G>C" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg646Pro", "hgvsWellDefined": "NP_001341677.1:p.Arg646Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "coordinates": [ { "allele": "C", "end": 2179, "referenceAllele": "G", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.1994G>C" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg665Pro", "hgvsWellDefined": "NP_001350548.1:p.Arg665Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "C", "end": 2524, "referenceAllele": "G", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.2524G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "C", "end": 3160, "referenceAllele": "G", "start": 3159 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.3160G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "C", "end": 2450, "referenceAllele": "G", "start": 2449 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.2450G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "C", "end": 2679, "referenceAllele": "G", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.2679G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "C", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.2427G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "C", "end": 2353, "referenceAllele": "G", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.2353G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "C", "end": 2653, "referenceAllele": "G", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.2396G>C" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg799Pro", "hgvsWellDefined": "XP_005269033.1:p.Arg799Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "C", "end": 2364, "referenceAllele": "G", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.2207G>C" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Arg736Pro", "hgvsWellDefined": "XP_016874958.1:p.Arg736Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "C", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.2309G>C" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Arg770Pro", "hgvsWellDefined": "XP_024304788.1:p.Arg770Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "C", "end": 2322, "referenceAllele": "G", "start": 2321 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.2186G>C" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Arg729Pro", "hgvsWellDefined": "XP_024304789.1:p.Arg729Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "C", "end": 2238, "referenceAllele": "G", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.2087G>C" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Arg696Pro", "hgvsWellDefined": "XP_024304790.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "coordinates": [ { "allele": "C", "end": 2126, "referenceAllele": "G", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg696Pro", "hgvsWellDefined": "NP_001160159.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "coordinates": [ { "allele": "C", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg696Pro", "hgvsWellDefined": "NP_001160160.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "coordinates": [ { "allele": "C", "end": 2258, "referenceAllele": "G", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.2111G>C" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg704Pro", "hgvsWellDefined": "NP_001341670.1:p.Arg704Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "coordinates": [ { "allele": "C", "end": 2162, "referenceAllele": "G", "start": 2161 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341671.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "coordinates": [ { "allele": "C", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341672.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "coordinates": [ { "allele": "C", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.2087G>C" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg696Pro", "hgvsWellDefined": "NP_001341673.1:p.Arg696Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "coordinates": [ { "allele": "C", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.2000G>C" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg667Pro", "hgvsWellDefined": "NP_001341674.1:p.Arg667Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "coordinates": [ { "allele": "C", "end": 2012, "referenceAllele": "G", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.1961G>C" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg654Pro", "hgvsWellDefined": "NP_001341675.1:p.Arg654Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "coordinates": [ { "allele": "C", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.1937G>C" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg646Pro", "hgvsWellDefined": "NP_001341676.1:p.Arg646Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "coordinates": [ { "allele": "C", "end": 2064, "referenceAllele": "G", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.1937G>C" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg646Pro", "hgvsWellDefined": "NP_001341677.1:p.Arg646Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "coordinates": [ { "allele": "C", "end": 2045, "referenceAllele": "G", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.1994G>C" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg665Pro", "hgvsWellDefined": "NP_001350548.1:p.Arg665Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "C", "end": 2390, "referenceAllele": "G", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.2390G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "C", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.2316G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "C", "end": 2545, "referenceAllele": "G", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.2545G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "C", "end": 2293, "referenceAllele": "G", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.2293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "C", "end": 2219, "referenceAllele": "G", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.2219G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }