SNP Links for Nucleotide (Select 188497749) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14904978071.

rs1490497807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69401438 (GRCh38)
10:71161194 (GRCh37)
Canonical SPDI:: NC_000010.11:69401437:G:A
Gene:: HK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.69401438G>A, NC_000010.10:g.71161194G>A, NG_012077.1:g.136439G>A, NM_033498.3:c.*303G>A, NM_033498.2:c.*303G>A, NM_033497.3:c.*303G>A, NM_033497.2:c.*303G>A, NM_033496.3:c.*303G>A, NM_033496.2:c.*303G>A, NM_000188.3:c.*303G>A, NM_000188.2:c.*303G>A, NM_001322365.2:c.*303G>A, NM_001322365.1:c.*303G>A, NM_033500.2:c.*303G>A, NM_001322364.2:c.*303G>A, NM_001322364.1:c.*303G>A, NM_001358263.1:c.*303G>A, NM_001322367.1:c.*303G>A, NM_001322366.1:c.*303G>A, XM_024447969.2:c.*303G>A, XM_024447969.1:c.*303G>A, XM_047425137.1:c.*303G>A, XM_047425136.1:c.*303G>A, XM_047425139.1:c.*303G>A

Select item 14904871772.

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 14896367183.

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 14888021794.

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 14886538045.

rs1488653804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69401620 (GRCh38)
10:71161376 (GRCh37)
Canonical SPDI:: NC_000010.11:69401619:C:T
Gene:: HK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69401620C>T, NC_000010.10:g.71161376C>T, NG_012077.1:g.136621C>T, NM_033498.3:c.*485C>T, NM_033498.2:c.*485C>T, NM_033497.3:c.*485C>T, NM_033497.2:c.*485C>T, NM_033496.3:c.*485C>T, NM_033496.2:c.*485C>T, NM_000188.3:c.*485C>T, NM_000188.2:c.*485C>T, NM_001322365.2:c.*485C>T, NM_001322365.1:c.*485C>T, NM_033500.2:c.*485C>T, NM_001322364.2:c.*485C>T, NM_001322364.1:c.*485C>T, NM_001358263.1:c.*485C>T, NM_001322367.1:c.*485C>T, NM_001322366.1:c.*485C>T, XM_024447969.2:c.*485C>T, XM_024447969.1:c.*485C>T, XM_047425137.1:c.*485C>T, XM_047425136.1:c.*485C>T, XM_047425139.1:c.*485C>T

Select item 14881780916.

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 14877633017.

rs1487763301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:69282661 (GRCh38)
10:71042417 (GRCh37)
Canonical SPDI:: NC_000010.11:69282660:C:A
Gene:: HK1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69282661C>A, NC_000010.10:g.71042417C>A, NG_012077.1:g.17662C>A, NM_033498.3:c.-117C>A, NM_033498.2:c.-117C>A, NM_033500.2:c.-258C>A, XM_024447969.2:c.-298C>A, XM_024447969.1:c.-298C>A, XM_047425137.1:c.-117C>A

Select item 14874040378.

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 14849294519.

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 148487478810.

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 148455689211.

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 148448354912.

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 148399603013.

rs1483996030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69282542 (GRCh38)
10:71042298 (GRCh37)
Canonical SPDI:: NC_000010.11:69282541:C:T
Gene:: HK1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69282542C>T, NC_000010.10:g.71042298C>T, NG_012077.1:g.17543C>T, NM_033498.3:c.-236C>T, NM_033498.2:c.-236C>T, NM_033497.3:c.-182C>T, NM_033497.2:c.-182C>T, NM_001322365.2:c.-182C>T, NM_001322365.1:c.-182C>T, NM_033500.2:c.-377C>T, NM_001358263.1:c.-182C>T, XM_024447969.2:c.-417C>T, XM_024447969.1:c.-417C>T, XM_047425137.1:c.-236C>T, XM_047425136.1:c.-182C>T

Select item 148214056614.

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 148149327915.

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 148045768316.

rs1480457683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69401226 (GRCh38)
10:71160982 (GRCh37)
Canonical SPDI:: NC_000010.11:69401225:C:T
Gene:: HK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69401226C>T, NC_000010.10:g.71160982C>T, NG_012077.1:g.136227C>T, NM_033498.3:c.*91C>T, NM_033498.2:c.*91C>T, NM_033497.3:c.*91C>T, NM_033497.2:c.*91C>T, NM_033496.3:c.*91C>T, NM_033496.2:c.*91C>T, NM_000188.3:c.*91C>T, NM_000188.2:c.*91C>T, NM_001322365.2:c.*91C>T, NM_001322365.1:c.*91C>T, NM_033500.2:c.*91C>T, NM_001322364.2:c.*91C>T, NM_001322364.1:c.*91C>T, NM_001358263.1:c.*91C>T, NM_001322367.1:c.*91C>T, NM_001322366.1:c.*91C>T, XM_024447969.2:c.*91C>T, XM_024447969.1:c.*91C>T, XM_047425137.1:c.*91C>T, XM_047425136.1:c.*91C>T, XM_047425139.1:c.*91C>T

Select item 147902176517.

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 147840544918.

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 147787305519.

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 147786214920.

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

<< First< Prev

Page of 50

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Nucleotide (Select 188497749) (1000)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: