SNP Links for Protein (Select 188497754) - SNP - NCBI

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Links from Protein

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Select item 14904871771.

rs1490487177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69379972 (GRCh38)
10:71139728 (GRCh37)
Canonical SPDI:: NC_000010.11:69379971:G:A
Gene:: HK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.69379972G>A, NC_000010.10:g.71139728G>A, NG_012077.1:g.114973G>A, NM_033498.3:c.1154G>A, NM_033498.2:c.1154G>A, NM_033497.3:c.1154G>A, NM_033497.2:c.1154G>A, NM_033496.3:c.1139G>A, NM_033496.2:c.1139G>A, NM_000188.3:c.1142G>A, NM_000188.2:c.1142G>A, NM_001322365.2:c.1247G>A, NM_001322365.1:c.1247G>A, NM_033500.2:c.1106G>A, NM_001322364.2:c.1154G>A, NM_001322364.1:c.1154G>A, NM_001358263.1:c.1154G>A, NM_001322367.1:c.1046G>A, NM_001322366.1:c.1058G>A, XM_024447969.2:c.1154G>A, XM_024447969.1:c.1154G>A, XM_047425137.1:c.1154G>A, XM_047425136.1:c.1154G>A, XM_047425139.1:c.1100G>A, NP_277033.1:p.Arg385His, NP_277032.1:p.Arg385His, NP_277031.1:p.Arg380His, NP_000179.2:p.Arg381His, NP_001309294.1:p.Arg416His, NP_277035.2:p.Arg369His, NP_001309293.1:p.Arg385His, NP_001345192.1:p.Arg385His, NP_001309296.1:p.Arg349His, NP_001309295.1:p.Arg353His, XP_024303737.1:p.Arg385His, XP_047281093.1:p.Arg385His, XP_047281092.1:p.Arg385His, XP_047281095.1:p.Arg367His

Select item 14896367182.

rs1489636718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:69384384 (GRCh38)
10:71144140 (GRCh37)
Canonical SPDI:: NC_000010.11:69384383:T:A
Gene:: HK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69384384T>A, NC_000010.10:g.71144140T>A, NG_012077.1:g.119385T>A, NM_033498.3:c.1634T>A, NM_033498.2:c.1634T>A, NM_033497.3:c.1634T>A, NM_033497.2:c.1634T>A, NM_033496.3:c.1619T>A, NM_033496.2:c.1619T>A, NM_000188.3:c.1622T>A, NM_000188.2:c.1622T>A, NM_001322365.2:c.1727T>A, NM_001322365.1:c.1727T>A, NM_033500.2:c.1586T>A, NM_001322364.2:c.1634T>A, NM_001322364.1:c.1634T>A, NM_001358263.1:c.1634T>A, NM_001322367.1:c.1526T>A, NM_001322366.1:c.1538T>A, XM_024447969.2:c.1634T>A, XM_024447969.1:c.1634T>A, XM_047425137.1:c.1634T>A, XM_047425136.1:c.1634T>A, XM_047425139.1:c.1580T>A, NP_277033.1:p.Leu545Gln, NP_277032.1:p.Leu545Gln, NP_277031.1:p.Leu540Gln, NP_000179.2:p.Leu541Gln, NP_001309294.1:p.Leu576Gln, NP_277035.2:p.Leu529Gln, NP_001309293.1:p.Leu545Gln, NP_001345192.1:p.Leu545Gln, NP_001309296.1:p.Leu509Gln, NP_001309295.1:p.Leu513Gln, XP_024303737.1:p.Leu545Gln, XP_047281093.1:p.Leu545Gln, XP_047281092.1:p.Leu545Gln, XP_047281095.1:p.Leu527Gln

Select item 14888021793.

rs1488802179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69384465 (GRCh38)
10:71144221 (GRCh37)
Canonical SPDI:: NC_000010.11:69384464:A:G
Gene:: HK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69384465A>G, NC_000010.10:g.71144221A>G, NG_012077.1:g.119466A>G, NM_033498.3:c.1715A>G, NM_033498.2:c.1715A>G, NM_033497.3:c.1715A>G, NM_033497.2:c.1715A>G, NM_033496.3:c.1700A>G, NM_033496.2:c.1700A>G, NM_000188.3:c.1703A>G, NM_000188.2:c.1703A>G, NM_001322365.2:c.1808A>G, NM_001322365.1:c.1808A>G, NM_033500.2:c.1667A>G, NM_001322364.2:c.1715A>G, NM_001322364.1:c.1715A>G, NM_001358263.1:c.1715A>G, NM_001322367.1:c.1607A>G, NM_001322366.1:c.1619A>G, XM_024447969.2:c.1715A>G, XM_024447969.1:c.1715A>G, XM_047425137.1:c.1715A>G, XM_047425136.1:c.1715A>G, XM_047425139.1:c.1661A>G, NP_277033.1:p.Gln572Arg, NP_277032.1:p.Gln572Arg, NP_277031.1:p.Gln567Arg, NP_000179.2:p.Gln568Arg, NP_001309294.1:p.Gln603Arg, NP_277035.2:p.Gln556Arg, NP_001309293.1:p.Gln572Arg, NP_001345192.1:p.Gln572Arg, NP_001309296.1:p.Gln536Arg, NP_001309295.1:p.Gln540Arg, XP_024303737.1:p.Gln572Arg, XP_047281093.1:p.Gln572Arg, XP_047281092.1:p.Gln572Arg, XP_047281095.1:p.Gln554Arg

Select item 14881780914.

rs1488178091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69394982 (GRCh38)
10:71154738 (GRCh37)
Canonical SPDI:: NC_000010.11:69394981:G:C
Gene:: HK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69394982G>C, NC_000010.10:g.71154738G>C, NG_012077.1:g.129983G>C, NM_033498.3:c.2264G>C, NM_033498.2:c.2264G>C, NM_033497.3:c.2264G>C, NM_033497.2:c.2264G>C, NM_033496.3:c.2249G>C, NM_033496.2:c.2249G>C, NM_000188.3:c.2252G>C, NM_000188.2:c.2252G>C, NM_001322365.2:c.2357G>C, NM_001322365.1:c.2357G>C, NM_033500.2:c.2216G>C, NM_001322364.2:c.2264G>C, NM_001322364.1:c.2264G>C, NM_001358263.1:c.2264G>C, NM_001322367.1:c.2156G>C, NM_001322366.1:c.2168G>C, XM_024447969.2:c.2264G>C, XM_024447969.1:c.2264G>C, XM_047425137.1:c.2264G>C, XM_047425136.1:c.2264G>C, XM_047425139.1:c.2210G>C, NP_277033.1:p.Gly755Ala, NP_277032.1:p.Gly755Ala, NP_277031.1:p.Gly750Ala, NP_000179.2:p.Gly751Ala, NP_001309294.1:p.Gly786Ala, NP_277035.2:p.Gly739Ala, NP_001309293.1:p.Gly755Ala, NP_001345192.1:p.Gly755Ala, NP_001309296.1:p.Gly719Ala, NP_001309295.1:p.Gly723Ala, XP_024303737.1:p.Gly755Ala, XP_047281093.1:p.Gly755Ala, XP_047281092.1:p.Gly755Ala, XP_047281095.1:p.Gly737Ala

Select item 14874040375.

rs1487404037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:69343920 (GRCh38)
10:71103676 (GRCh37)
Canonical SPDI:: NC_000010.11:69343919:C:A,NC_000010.11:69343919:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69343920C>A, NC_000010.11:g.69343920C>T, NC_000010.10:g.71103676C>A, NC_000010.10:g.71103676C>T, NG_012077.1:g.78921C>A, NG_012077.1:g.78921C>T, NM_033498.3:c.169C>A, NM_033498.3:c.169C>T, NM_033498.2:c.169C>A, NM_033498.2:c.169C>T, NM_033497.3:c.169C>A, NM_033497.3:c.169C>T, NM_033497.2:c.169C>A, NM_033497.2:c.169C>T, NM_033496.3:c.154C>A, NM_033496.3:c.154C>T, NM_033496.2:c.154C>A, NM_033496.2:c.154C>T, NM_000188.3:c.157C>A, NM_000188.3:c.157C>T, NM_000188.2:c.157C>A, NM_000188.2:c.157C>T, NM_001322365.2:c.262C>A, NM_001322365.2:c.262C>T, NM_001322365.1:c.262C>A, NM_001322365.1:c.262C>T, NM_033500.2:c.121C>A, NM_033500.2:c.121C>T, NM_001322364.2:c.169C>A, NM_001322364.2:c.169C>T, NM_001322364.1:c.169C>A, NM_001322364.1:c.169C>T, NM_001358263.1:c.169C>A, NM_001358263.1:c.169C>T, NM_001322367.1:c.157C>A, NM_001322367.1:c.157C>T, NM_001322366.1:c.73C>A, NM_001322366.1:c.73C>T, XM_024447969.2:c.169C>A, XM_024447969.2:c.169C>T, XM_024447969.1:c.169C>A, XM_024447969.1:c.169C>T, XM_047425137.1:c.169C>A, XM_047425137.1:c.169C>T, XM_047425136.1:c.169C>A, XM_047425136.1:c.169C>T, XM_047425139.1:c.115C>A, XM_047425139.1:c.115C>T, NP_277033.1:p.Arg57Trp, NP_277032.1:p.Arg57Trp, NP_277031.1:p.Arg52Trp, NP_000179.2:p.Arg53Trp, NP_001309294.1:p.Arg88Trp, NP_277035.2:p.Arg41Trp, NP_001309293.1:p.Arg57Trp, NP_001345192.1:p.Arg57Trp, NP_001309296.1:p.Arg53Trp, NP_001309295.1:p.Arg25Trp, XP_024303737.1:p.Arg57Trp, XP_047281093.1:p.Arg57Trp, XP_047281092.1:p.Arg57Trp, XP_047281095.1:p.Arg39Trp

Select item 14858332766.

rs1485833276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69318970 (GRCh38)
10:71078726 (GRCh37)
Canonical SPDI:: NC_000010.11:69318969:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69318970C>T, NC_000010.10:g.71078726C>T, NG_012077.1:g.53971C>T, NM_000188.3:c.23C>T, NM_000188.2:c.23C>T, NM_001322367.1:c.23C>T, NP_000179.2:p.Ala8Val, NP_001309296.1:p.Ala8Val

Select item 14849294517.

rs1484929451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69369323 (GRCh38)
10:71129079 (GRCh37)
Canonical SPDI:: NC_000010.11:69369322:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69369323C>T, NC_000010.10:g.71129079C>T, NG_012077.1:g.104324C>T, NM_033498.3:c.690C>T, NM_033498.2:c.690C>T, NM_033497.3:c.690C>T, NM_033497.2:c.690C>T, NM_033496.3:c.675C>T, NM_033496.2:c.675C>T, NM_000188.3:c.678C>T, NM_000188.2:c.678C>T, NM_001322365.2:c.783C>T, NM_001322365.1:c.783C>T, NM_033500.2:c.642C>T, NM_001322364.2:c.690C>T, NM_001322364.1:c.690C>T, NM_001358263.1:c.690C>T, NM_001322367.1:c.582C>T, NM_001322366.1:c.594C>T, XM_024447969.2:c.690C>T, XM_024447969.1:c.690C>T, XM_047425137.1:c.690C>T, XM_047425136.1:c.690C>T, XM_047425139.1:c.636C>T

Select item 14848747888.

rs1484874788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69384411 (GRCh38)
10:71144167 (GRCh37)
Canonical SPDI:: NC_000010.11:69384410:A:G
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69384411A>G, NC_000010.10:g.71144167A>G, NG_012077.1:g.119412A>G, NM_033498.3:c.1661A>G, NM_033498.2:c.1661A>G, NM_033497.3:c.1661A>G, NM_033497.2:c.1661A>G, NM_033496.3:c.1646A>G, NM_033496.2:c.1646A>G, NM_000188.3:c.1649A>G, NM_000188.2:c.1649A>G, NM_001322365.2:c.1754A>G, NM_001322365.1:c.1754A>G, NM_033500.2:c.1613A>G, NM_001322364.2:c.1661A>G, NM_001322364.1:c.1661A>G, NM_001358263.1:c.1661A>G, NM_001322367.1:c.1553A>G, NM_001322366.1:c.1565A>G, XM_024447969.2:c.1661A>G, XM_024447969.1:c.1661A>G, XM_047425137.1:c.1661A>G, XM_047425136.1:c.1661A>G, XM_047425139.1:c.1607A>G, NP_277033.1:p.Lys554Arg, NP_277032.1:p.Lys554Arg, NP_277031.1:p.Lys549Arg, NP_000179.2:p.Lys550Arg, NP_001309294.1:p.Lys585Arg, NP_277035.2:p.Lys538Arg, NP_001309293.1:p.Lys554Arg, NP_001345192.1:p.Lys554Arg, NP_001309296.1:p.Lys518Arg, NP_001309295.1:p.Lys522Arg, XP_024303737.1:p.Lys554Arg, XP_047281093.1:p.Lys554Arg, XP_047281092.1:p.Lys554Arg, XP_047281095.1:p.Lys536Arg

Select item 14845568929.

rs1484556892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:69369595 (GRCh38)
10:71129351 (GRCh37)
Canonical SPDI:: NC_000010.11:69369594:C:G,NC_000010.11:69369594:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69369595C>G, NC_000010.11:g.69369595C>T, NC_000010.10:g.71129351C>G, NC_000010.10:g.71129351C>T, NG_012077.1:g.104596C>G, NG_012077.1:g.104596C>T, NM_033498.3:c.858C>G, NM_033498.3:c.858C>T, NM_033498.2:c.858C>G, NM_033498.2:c.858C>T, NM_033497.3:c.858C>G, NM_033497.3:c.858C>T, NM_033497.2:c.858C>G, NM_033497.2:c.858C>T, NM_033496.3:c.843C>G, NM_033496.3:c.843C>T, NM_033496.2:c.843C>G, NM_033496.2:c.843C>T, NM_000188.3:c.846C>G, NM_000188.3:c.846C>T, NM_000188.2:c.846C>G, NM_000188.2:c.846C>T, NM_001322365.2:c.951C>G, NM_001322365.2:c.951C>T, NM_001322365.1:c.951C>G, NM_001322365.1:c.951C>T, NM_033500.2:c.810C>G, NM_033500.2:c.810C>T, NM_001322364.2:c.858C>G, NM_001322364.2:c.858C>T, NM_001322364.1:c.858C>G, NM_001322364.1:c.858C>T, NM_001358263.1:c.858C>G, NM_001358263.1:c.858C>T, NM_001322367.1:c.750C>G, NM_001322367.1:c.750C>T, NM_001322366.1:c.762C>G, NM_001322366.1:c.762C>T, XM_024447969.2:c.858C>G, XM_024447969.2:c.858C>T, XM_024447969.1:c.858C>G, XM_024447969.1:c.858C>T, XM_047425137.1:c.858C>G, XM_047425137.1:c.858C>T, XM_047425136.1:c.858C>G, XM_047425136.1:c.858C>T, XM_047425139.1:c.804C>G, XM_047425139.1:c.804C>T, NP_277033.1:p.Asp286Glu, NP_277032.1:p.Asp286Glu, NP_277031.1:p.Asp281Glu, NP_000179.2:p.Asp282Glu, NP_001309294.1:p.Asp317Glu, NP_277035.2:p.Asp270Glu, NP_001309293.1:p.Asp286Glu, NP_001345192.1:p.Asp286Glu, NP_001309296.1:p.Asp250Glu, NP_001309295.1:p.Asp254Glu, XP_024303737.1:p.Asp286Glu, XP_047281093.1:p.Asp286Glu, XP_047281092.1:p.Asp286Glu, XP_047281095.1:p.Asp268Glu

Select item 148448354910.

rs1484483549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69343957 (GRCh38)
10:71103713 (GRCh37)
Canonical SPDI:: NC_000010.11:69343956:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69343957C>T, NC_000010.10:g.71103713C>T, NG_012077.1:g.78958C>T, NM_033498.3:c.206C>T, NM_033498.2:c.206C>T, NM_033497.3:c.206C>T, NM_033497.2:c.206C>T, NM_033496.3:c.191C>T, NM_033496.2:c.191C>T, NM_000188.3:c.194C>T, NM_000188.2:c.194C>T, NM_001322365.2:c.299C>T, NM_001322365.1:c.299C>T, NM_033500.2:c.158C>T, NM_001322364.2:c.206C>T, NM_001322364.1:c.206C>T, NM_001358263.1:c.206C>T, NM_001322367.1:c.194C>T, NM_001322366.1:c.110C>T, XM_024447969.2:c.206C>T, XM_024447969.1:c.206C>T, XM_047425137.1:c.206C>T, XM_047425136.1:c.206C>T, XM_047425139.1:c.152C>T, NP_277033.1:p.Pro69Leu, NP_277032.1:p.Pro69Leu, NP_277031.1:p.Pro64Leu, NP_000179.2:p.Pro65Leu, NP_001309294.1:p.Pro100Leu, NP_277035.2:p.Pro53Leu, NP_001309293.1:p.Pro69Leu, NP_001345192.1:p.Pro69Leu, NP_001309296.1:p.Pro65Leu, NP_001309295.1:p.Pro37Leu, XP_024303737.1:p.Pro69Leu, XP_047281093.1:p.Pro69Leu, XP_047281092.1:p.Pro69Leu, XP_047281095.1:p.Pro51Leu

Select item 148214056611.

rs1482140566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:69364853 (GRCh38)
10:71124609 (GRCh37)
Canonical SPDI:: NC_000010.11:69364852:C:A
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69364853C>A, NC_000010.10:g.71124609C>A, NG_012077.1:g.99854C>A, NM_033498.3:c.458C>A, NM_033498.2:c.458C>A, NM_033497.3:c.458C>A, NM_033497.2:c.458C>A, NM_033496.3:c.443C>A, NM_033496.2:c.443C>A, NM_000188.3:c.446C>A, NM_000188.2:c.446C>A, NM_001322365.2:c.551C>A, NM_001322365.1:c.551C>A, NM_033500.2:c.410C>A, NM_001322364.2:c.458C>A, NM_001322364.1:c.458C>A, NM_001358263.1:c.458C>A, NM_001322367.1:c.446C>A, NM_001322366.1:c.362C>A, XM_024447969.2:c.458C>A, XM_024447969.1:c.458C>A, XM_047425137.1:c.458C>A, XM_047425136.1:c.458C>A, XM_047425139.1:c.404C>A, NP_277033.1:p.Pro153His, NP_277032.1:p.Pro153His, NP_277031.1:p.Pro148His, NP_000179.2:p.Pro149His, NP_001309294.1:p.Pro184His, NP_277035.2:p.Pro137His, NP_001309293.1:p.Pro153His, NP_001345192.1:p.Pro153His, NP_001309296.1:p.Pro149His, NP_001309295.1:p.Pro121His, XP_024303737.1:p.Pro153His, XP_047281093.1:p.Pro153His, XP_047281092.1:p.Pro153His, XP_047281095.1:p.Pro135His

Select item 148149327912.

rs1481493279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:69386334 (GRCh38)
10:71146090 (GRCh37)
Canonical SPDI:: NC_000010.11:69386333:C:G
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69386334C>G, NC_000010.10:g.71146090C>G, NG_012077.1:g.121335C>G, NM_033498.3:c.1863C>G, NM_033498.2:c.1863C>G, NM_033497.3:c.1863C>G, NM_033497.2:c.1863C>G, NM_033496.3:c.1848C>G, NM_033496.2:c.1848C>G, NM_000188.3:c.1851C>G, NM_000188.2:c.1851C>G, NM_001322365.2:c.1956C>G, NM_001322365.1:c.1956C>G, NM_033500.2:c.1815C>G, NM_001322364.2:c.1863C>G, NM_001322364.1:c.1863C>G, NM_001358263.1:c.1863C>G, NM_001322367.1:c.1755C>G, NM_001322366.1:c.1767C>G, XM_024447969.2:c.1863C>G, XM_024447969.1:c.1863C>G, XM_047425137.1:c.1863C>G, XM_047425136.1:c.1863C>G, XM_047425139.1:c.1809C>G, NP_277033.1:p.Ile621Met, NP_277032.1:p.Ile621Met, NP_277031.1:p.Ile616Met, NP_000179.2:p.Ile617Met, NP_001309294.1:p.Ile652Met, NP_277035.2:p.Ile605Met, NP_001309293.1:p.Ile621Met, NP_001345192.1:p.Ile621Met, NP_001309296.1:p.Ile585Met, NP_001309295.1:p.Ile589Met, XP_024303737.1:p.Ile621Met, XP_047281093.1:p.Ile621Met, XP_047281092.1:p.Ile621Met, XP_047281095.1:p.Ile603Met

Select item 147902176513.

rs1479021765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69398613 (GRCh38)
10:71158369 (GRCh37)
Canonical SPDI:: NC_000010.11:69398612:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69398613C>T, NC_000010.10:g.71158369C>T, NG_012077.1:g.133614C>T, NM_033498.3:c.2406C>T, NM_033498.2:c.2406C>T, NM_033497.3:c.2406C>T, NM_033497.2:c.2406C>T, NM_033496.3:c.2391C>T, NM_033496.2:c.2391C>T, NM_000188.3:c.2394C>T, NM_000188.2:c.2394C>T, NM_001322365.2:c.2499C>T, NM_001322365.1:c.2499C>T, NM_033500.2:c.2358C>T, NM_001322364.2:c.2406C>T, NM_001322364.1:c.2406C>T, NM_001358263.1:c.2406C>T, NM_001322367.1:c.2298C>T, NM_001322366.1:c.2310C>T, XM_024447969.2:c.2406C>T, XM_024447969.1:c.2406C>T, XM_047425137.1:c.2406C>T, XM_047425136.1:c.2406C>T, XM_047425139.1:c.2352C>T

Select item 147840544914.

rs1478405449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69382670 (GRCh38)
10:71142426 (GRCh37)
Canonical SPDI:: NC_000010.11:69382669:G:A
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.69382670G>A, NC_000010.10:g.71142426G>A, NG_012077.1:g.117671G>A, NM_033498.3:c.1461G>A, NM_033498.2:c.1461G>A, NM_033497.3:c.1461G>A, NM_033497.2:c.1461G>A, NM_033496.3:c.1446G>A, NM_033496.2:c.1446G>A, NM_000188.3:c.1449G>A, NM_000188.2:c.1449G>A, NM_001322365.2:c.1554G>A, NM_001322365.1:c.1554G>A, NM_033500.2:c.1413G>A, NM_001322364.2:c.1461G>A, NM_001322364.1:c.1461G>A, NM_001358263.1:c.1461G>A, NM_001322367.1:c.1353G>A, NM_001322366.1:c.1365G>A, XM_024447969.2:c.1461G>A, XM_024447969.1:c.1461G>A, XM_047425137.1:c.1461G>A, XM_047425136.1:c.1461G>A, XM_047425139.1:c.1407G>A, NP_277033.1:p.Met487Ile, NP_277032.1:p.Met487Ile, NP_277031.1:p.Met482Ile, NP_000179.2:p.Met483Ile, NP_001309294.1:p.Met518Ile, NP_277035.2:p.Met471Ile, NP_001309293.1:p.Met487Ile, NP_001345192.1:p.Met487Ile, NP_001309296.1:p.Met451Ile, NP_001309295.1:p.Met455Ile, XP_024303737.1:p.Met487Ile, XP_047281093.1:p.Met487Ile, XP_047281092.1:p.Met487Ile, XP_047281095.1:p.Met469Ile

Select item 147787305515.

rs1477873055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69382594 (GRCh38)
10:71142350 (GRCh37)
Canonical SPDI:: NC_000010.11:69382593:C:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69382594C>T, NC_000010.10:g.71142350C>T, NG_012077.1:g.117595C>T, NM_033498.3:c.1385C>T, NM_033498.2:c.1385C>T, NM_033497.3:c.1385C>T, NM_033497.2:c.1385C>T, NM_033496.3:c.1370C>T, NM_033496.2:c.1370C>T, NM_000188.3:c.1373C>T, NM_000188.2:c.1373C>T, NM_001322365.2:c.1478C>T, NM_001322365.1:c.1478C>T, NM_033500.2:c.1337C>T, NM_001322364.2:c.1385C>T, NM_001322364.1:c.1385C>T, NM_001358263.1:c.1385C>T, NM_001322367.1:c.1277C>T, NM_001322366.1:c.1289C>T, XM_024447969.2:c.1385C>T, XM_024447969.1:c.1385C>T, XM_047425137.1:c.1385C>T, XM_047425136.1:c.1385C>T, XM_047425139.1:c.1331C>T, NP_277033.1:p.Ala462Val, NP_277032.1:p.Ala462Val, NP_277031.1:p.Ala457Val, NP_000179.2:p.Ala458Val, NP_001309294.1:p.Ala493Val, NP_277035.2:p.Ala446Val, NP_001309293.1:p.Ala462Val, NP_001345192.1:p.Ala462Val, NP_001309296.1:p.Ala426Val, NP_001309295.1:p.Ala430Val, XP_024303737.1:p.Ala462Val, XP_047281093.1:p.Ala462Val, XP_047281092.1:p.Ala462Val, XP_047281095.1:p.Ala444Val

Select item 147786214916.

rs1477862149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:69398788 (GRCh38)
10:71158544 (GRCh37)
Canonical SPDI:: NC_000010.11:69398787:A:T
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69398788A>T, NC_000010.10:g.71158544A>T, NG_012077.1:g.133789A>T, NM_033498.3:c.2581A>T, NM_033498.2:c.2581A>T, NM_033497.3:c.2581A>T, NM_033497.2:c.2581A>T, NM_033496.3:c.2566A>T, NM_033496.2:c.2566A>T, NM_000188.3:c.2569A>T, NM_000188.2:c.2569A>T, NM_001322365.2:c.2674A>T, NM_001322365.1:c.2674A>T, NM_033500.2:c.2533A>T, NM_001322364.2:c.2581A>T, NM_001322364.1:c.2581A>T, NM_001358263.1:c.2581A>T, NM_001322367.1:c.2473A>T, NM_001322366.1:c.2485A>T, XM_024447969.2:c.2581A>T, XM_024447969.1:c.2581A>T, XM_047425137.1:c.2581A>T, XM_047425136.1:c.2581A>T, XM_047425139.1:c.2527A>T, NP_277033.1:p.Thr861Ser, NP_277032.1:p.Thr861Ser, NP_277031.1:p.Thr856Ser, NP_000179.2:p.Thr857Ser, NP_001309294.1:p.Thr892Ser, NP_277035.2:p.Thr845Ser, NP_001309293.1:p.Thr861Ser, NP_001345192.1:p.Thr861Ser, NP_001309296.1:p.Thr825Ser, NP_001309295.1:p.Thr829Ser, XP_024303737.1:p.Thr861Ser, XP_047281093.1:p.Thr861Ser, XP_047281092.1:p.Thr861Ser, XP_047281095.1:p.Thr843Ser

Select item 147706228917.

rs1477062289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69389230 (GRCh38)
10:71148986 (GRCh37)
Canonical SPDI:: NC_000010.11:69389229:G:C
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69389230G>C, NC_000010.10:g.71148986G>C, NG_012077.1:g.124231G>C, NM_033498.3:c.1981G>C, NM_033498.2:c.1981G>C, NM_033497.3:c.1981G>C, NM_033497.2:c.1981G>C, NM_033496.3:c.1966G>C, NM_033496.2:c.1966G>C, NM_000188.3:c.1969G>C, NM_000188.2:c.1969G>C, NM_001322365.2:c.2074G>C, NM_001322365.1:c.2074G>C, NM_033500.2:c.1933G>C, NM_001322364.2:c.1981G>C, NM_001322364.1:c.1981G>C, NM_001358263.1:c.1981G>C, NM_001322367.1:c.1873G>C, NM_001322366.1:c.1885G>C, XM_024447969.2:c.1981G>C, XM_024447969.1:c.1981G>C, XM_047425137.1:c.1981G>C, XM_047425136.1:c.1981G>C, XM_047425139.1:c.1927G>C, NP_277033.1:p.Asp661His, NP_277032.1:p.Asp661His, NP_277031.1:p.Asp656His, NP_000179.2:p.Asp657His, NP_001309294.1:p.Asp692His, NP_277035.2:p.Asp645His, NP_001309293.1:p.Asp661His, NP_001345192.1:p.Asp661His, NP_001309296.1:p.Asp625His, NP_001309295.1:p.Asp629His, XP_024303737.1:p.Asp661His, XP_047281093.1:p.Asp661His, XP_047281092.1:p.Asp661His, XP_047281095.1:p.Asp643His

Select item 147676662218.

rs1476766622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69368625 (GRCh38)
10:71128381 (GRCh37)
Canonical SPDI:: NC_000010.11:69368624:G:A
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69368625G>A, NC_000010.10:g.71128381G>A, NG_012077.1:g.103626G>A, NM_033498.3:c.597G>A, NM_033498.2:c.597G>A, NM_033497.3:c.597G>A, NM_033497.2:c.597G>A, NM_033496.3:c.582G>A, NM_033496.2:c.582G>A, NM_000188.3:c.585G>A, NM_000188.2:c.585G>A, NM_001322365.2:c.690G>A, NM_001322365.1:c.690G>A, NM_033500.2:c.549G>A, NM_001322364.2:c.597G>A, NM_001322364.1:c.597G>A, NM_001358263.1:c.597G>A, NM_001322366.1:c.501G>A, XM_024447969.2:c.597G>A, XM_024447969.1:c.597G>A, XM_047425137.1:c.597G>A, XM_047425136.1:c.597G>A, XM_047425139.1:c.543G>A

Select item 147545820919.

rs1475458209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69382690 (GRCh38)
10:71142446 (GRCh37)
Canonical SPDI:: NC_000010.11:69382689:G:A
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69382690G>A, NC_000010.10:g.71142446G>A, NG_012077.1:g.117691G>A, NM_033498.3:c.1481G>A, NM_033498.2:c.1481G>A, NM_033497.3:c.1481G>A, NM_033497.2:c.1481G>A, NM_033496.3:c.1466G>A, NM_033496.2:c.1466G>A, NM_000188.3:c.1469G>A, NM_000188.2:c.1469G>A, NM_001322365.2:c.1574G>A, NM_001322365.1:c.1574G>A, NM_033500.2:c.1433G>A, NM_001322364.2:c.1481G>A, NM_001322364.1:c.1481G>A, NM_001358263.1:c.1481G>A, NM_001322367.1:c.1373G>A, NM_001322366.1:c.1385G>A, XM_024447969.2:c.1481G>A, XM_024447969.1:c.1481G>A, XM_047425137.1:c.1481G>A, XM_047425136.1:c.1481G>A, XM_047425139.1:c.1427G>A, NP_277033.1:p.Arg494Lys, NP_277032.1:p.Arg494Lys, NP_277031.1:p.Arg489Lys, NP_000179.2:p.Arg490Lys, NP_001309294.1:p.Arg525Lys, NP_277035.2:p.Arg478Lys, NP_001309293.1:p.Arg494Lys, NP_001345192.1:p.Arg494Lys, NP_001309296.1:p.Arg458Lys, NP_001309295.1:p.Arg462Lys, XP_024303737.1:p.Arg494Lys, XP_047281093.1:p.Arg494Lys, XP_047281092.1:p.Arg494Lys, XP_047281095.1:p.Arg476Lys

Select item 147317180620.

rs1473171806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69379872 (GRCh38)
10:71139628 (GRCh37)
Canonical SPDI:: NC_000010.11:69379871:G:C
Gene:: HK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69379872G>C, NC_000010.10:g.71139628G>C, NG_012077.1:g.114873G>C, NM_033498.3:c.1054G>C, NM_033498.2:c.1054G>C, NM_033497.3:c.1054G>C, NM_033497.2:c.1054G>C, NM_033496.3:c.1039G>C, NM_033496.2:c.1039G>C, NM_000188.3:c.1042G>C, NM_000188.2:c.1042G>C, NM_001322365.2:c.1147G>C, NM_001322365.1:c.1147G>C, NM_033500.2:c.1006G>C, NM_001322364.2:c.1054G>C, NM_001322364.1:c.1054G>C, NM_001358263.1:c.1054G>C, NM_001322367.1:c.946G>C, NM_001322366.1:c.958G>C, XM_024447969.2:c.1054G>C, XM_024447969.1:c.1054G>C, XM_047425137.1:c.1054G>C, XM_047425136.1:c.1054G>C, XM_047425139.1:c.1000G>C, NP_277033.1:p.Gly352Arg, NP_277032.1:p.Gly352Arg, NP_277031.1:p.Gly347Arg, NP_000179.2:p.Gly348Arg, NP_001309294.1:p.Gly383Arg, NP_277035.2:p.Gly336Arg, NP_001309293.1:p.Gly352Arg, NP_001345192.1:p.Gly352Arg, NP_001309296.1:p.Gly316Arg, NP_001309295.1:p.Gly320Arg, XP_024303737.1:p.Gly352Arg, XP_047281093.1:p.Gly352Arg, XP_047281092.1:p.Gly352Arg, XP_047281095.1:p.Gly334Arg

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