SNP Links for Protein (Select 164698438) - SNP

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Links from Protein

Items: 1 to 20 of 237

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Select item 14887054851.

rs1488705485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:78185061 (GRCh38)
17:76181142 (GRCh37)
Canonical SPDI:: NC_000017.11:78185060:T:A
Gene:: TK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78185061T>A, NC_000017.10:g.76181142T>A, NG_051962.1:g.7144A>T, NM_003258.5:c.203A>T, NM_003258.4:c.203A>T, NM_001346663.2:c.203A>T, NM_001346663.1:c.203A>T, NM_001363848.1:c.203A>T, NP_003249.3:p.His68Leu, NP_001333592.1:p.His68Leu, NP_001350777.1:p.His68Leu

Select item 14823735352.

rs1482373535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78186961 (GRCh38)
17:76183042 (GRCh37)
Canonical SPDI:: NC_000017.11:78186960:C:T
Gene:: TK1 (Varview), AFMID (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78186961C>T, NC_000017.10:g.76183042C>T, NG_051962.1:g.5244G>A, NM_003258.5:c.34G>A, NM_003258.4:c.34G>A, NM_001346663.2:c.34G>A, NM_001346663.1:c.34G>A, NM_001363848.1:c.34G>A, NP_003249.3:p.Gly12Ser, NP_001333592.1:p.Gly12Ser, NP_001350777.1:p.Gly12Ser

Select item 14792070803.

rs1479207080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78174907 (GRCh38)
17:76170988 (GRCh37)
Canonical SPDI:: NC_000017.11:78174906:C:T
Gene:: TK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.78174907C>T, NC_000017.10:g.76170988C>T, NG_051962.1:g.17298G>A, NM_003258.5:c.557G>A, NM_003258.4:c.557G>A, NM_001363848.1:c.656G>A, NP_003249.3:p.Arg186Gln, NP_001350777.1:p.Arg219Gln

Select item 14765698774.

rs1476569877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:78185116 (GRCh38)
17:76181197 (GRCh37)
Canonical SPDI:: NC_000017.11:78185115:A:G
Gene:: TK1 (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_000017.11:g.78185116A>G, NC_000017.10:g.76181197A>G, NG_051962.1:g.7089T>C, NM_003258.5:c.148T>C, NM_003258.4:c.148T>C, NM_001346663.2:c.148T>C, NM_001346663.1:c.148T>C, NM_001363848.1:c.148T>C, NP_003249.3:p.Cys50Arg, NP_001333592.1:p.Cys50Arg, NP_001350777.1:p.Cys50Arg

Select item 14732082855.

rs1473208285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78186974 (GRCh38)
17:76183055 (GRCh37)
Canonical SPDI:: NC_000017.11:78186973:G:A
Gene:: TK1 (Varview), AFMID (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.78186974G>A, NC_000017.10:g.76183055G>A, NG_051962.1:g.5231C>T, NM_003258.5:c.21C>T, NM_003258.4:c.21C>T, NM_001346663.2:c.21C>T, NM_001346663.1:c.21C>T, NM_001363848.1:c.21C>T

Select item 14671573346.

rs1467157334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:78174933 (GRCh38)
17:76171014 (GRCh37)
Canonical SPDI:: NC_000017.11:78174932:T:A
Gene:: TK1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78174933T>A, NC_000017.10:g.76171014T>A, NG_051962.1:g.17272A>T, NM_003258.5:c.531A>T, NM_003258.4:c.531A>T, NM_001363848.1:c.630A>T

Select item 14665199137.

rs1466519913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:78174786 (GRCh38)
17:76170867 (GRCh37)
Canonical SPDI:: NC_000017.11:78174785:C:A
Gene:: TK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.78174786C>A, NC_000017.10:g.76170867C>A, NG_051962.1:g.17419G>T, NM_003258.5:c.678G>T, NM_003258.4:c.678G>T, NM_001346663.2:c.516G>T, NM_001346663.1:c.516G>T, NM_001363848.1:c.777G>T, NP_003249.3:p.Gln226His, NP_001333592.1:p.Gln172His, NP_001350777.1:p.Gln259His

Select item 14660723398.

rs1466072339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78175128 (GRCh38)
17:76171209 (GRCh37)
Canonical SPDI:: NC_000017.11:78175127:G:A
Gene:: TK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.78175128G>A, NC_000017.10:g.76171209G>A, NG_051962.1:g.17077C>T, NM_003258.5:c.435C>T, NM_003258.4:c.435C>T, NM_001346663.2:c.435C>T, NM_001346663.1:c.435C>T, NM_001363848.1:c.435C>T

Select item 14650199179.

rs1465019917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78186794 (GRCh38)
17:76182875 (GRCh37)
Canonical SPDI:: NC_000017.11:78186793:C:T
Gene:: TK1 (Varview), AFMID (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.78186794C>T, NC_000017.10:g.76182875C>T, NG_051962.1:g.5411G>A, NM_003258.5:c.91G>A, NM_003258.4:c.91G>A, NM_001346663.2:c.91G>A, NM_001346663.1:c.91G>A, NM_001363848.1:c.91G>A, NP_003249.3:p.Gly31Arg, NP_001333592.1:p.Gly31Arg, NP_001350777.1:p.Gly31Arg

Select item 145576414610.

rs1455764146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78186812 (GRCh38)
17:76182893 (GRCh37)
Canonical SPDI:: NC_000017.11:78186811:G:A
Gene:: TK1 (Varview), AFMID (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78186812G>A, NC_000017.10:g.76182893G>A, NG_051962.1:g.5393C>T, NM_003258.5:c.73C>T, NM_003258.4:c.73C>T, NM_001346663.2:c.73C>T, NM_001346663.1:c.73C>T, NM_001363848.1:c.73C>T, NP_003249.3:p.Leu25Phe, NP_001333592.1:p.Leu25Phe, NP_001350777.1:p.Leu25Phe

Select item 145281488411.

rs1452814884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78174845 (GRCh38)
17:76170926 (GRCh37)
Canonical SPDI:: NC_000017.11:78174844:G:A
Gene:: TK1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78174845G>A, NC_000017.10:g.76170926G>A, NG_051962.1:g.17360C>T, NM_003258.5:c.619C>T, NM_003258.4:c.619C>T, NM_001363848.1:c.718C>T, NP_003249.3:p.Pro207Ser, NP_001350777.1:p.Pro240Ser

Select item 145158764712.

rs1451587647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78182654 (GRCh38)
17:76178735 (GRCh37)
Canonical SPDI:: NC_000017.11:78182653:G:A
Gene:: TK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.78182654G>A, NC_000017.10:g.76178735G>A, NG_051962.1:g.9551C>T, NM_003258.5:c.238C>T, NM_003258.4:c.238C>T, NM_001346663.2:c.238C>T, NM_001346663.1:c.238C>T, NM_001363848.1:c.238C>T

Select item 144635593813.

rs1446355938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:78175160 (GRCh38)
17:76171241 (GRCh37)
Canonical SPDI:: NC_000017.11:78175159:C:G
Gene:: TK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78175160C>G, NC_000017.10:g.76171241C>G, NG_051962.1:g.17045G>C, NM_003258.5:c.403G>C, NM_003258.4:c.403G>C, NM_001346663.2:c.403G>C, NM_001346663.1:c.403G>C, NM_001363848.1:c.403G>C, NP_003249.3:p.Ala135Pro, NP_001333592.1:p.Ala135Pro, NP_001350777.1:p.Ala135Pro

Select item 144461509514.

rs1444615095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:78186970 (GRCh38)
17:76183051 (GRCh37)
Canonical SPDI:: NC_000017.11:78186969:C:G
Gene:: TK1 (Varview), AFMID (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78186970C>G, NC_000017.10:g.76183051C>G, NG_051962.1:g.5235G>C, NM_003258.5:c.25G>C, NM_003258.4:c.25G>C, NM_001346663.2:c.25G>C, NM_001346663.1:c.25G>C, NM_001363848.1:c.25G>C, NP_003249.3:p.Val9Leu, NP_001333592.1:p.Val9Leu, NP_001350777.1:p.Val9Leu

Select item 143828441215.

rs1438284412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78174893 (GRCh38)
17:76170974 (GRCh37)
Canonical SPDI:: NC_000017.11:78174892:T:C
Gene:: TK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78174893T>C, NC_000017.10:g.76170974T>C, NG_051962.1:g.17312A>G, NM_003258.5:c.571A>G, NM_003258.4:c.571A>G, NM_001363848.1:c.670A>G, NP_003249.3:p.Lys191Glu, NP_001350777.1:p.Lys224Glu

Select item 143601238416.

rs1436012384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:78175613 (GRCh38)
17:76171694 (GRCh37)
Canonical SPDI:: NC_000017.11:78175612:A:T
Gene:: TK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78175613A>T, NC_000017.10:g.76171694A>T, NG_051962.1:g.16592T>A, NM_003258.5:c.309T>A, NM_003258.4:c.309T>A, NM_001346663.2:c.309T>A, NM_001346663.1:c.309T>A, NM_001363848.1:c.309T>A

Select item 143461154717.

rs1434611547 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:78174807 (GRCh38)
17:76170888 (GRCh37)
Canonical SPDI:: NC_000017.11:78174806:CC:C
Gene:: TK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.78174808del, NC_000017.10:g.76170889del, NG_051962.1:g.17398del, NM_003258.5:c.657del, NM_003258.4:c.657del, NM_001363848.1:c.756del, NP_003249.3:p.Lys220fs, NP_001350777.1:p.Lys253fs

Select item 142961114318.

rs1429611143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:78174873 (GRCh38)
17:76170954 (GRCh37)
Canonical SPDI:: NC_000017.11:78174872:A:G
Gene:: TK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.78174873A>G, NC_000017.10:g.76170954A>G, NG_051962.1:g.17332T>C, NM_003258.5:c.591T>C, NM_003258.4:c.591T>C, NM_001363848.1:c.690T>C

Select item 142602046219.

rs1426020462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:78175549 (GRCh38)
17:76171630 (GRCh37)
Canonical SPDI:: NC_000017.11:78175548:C:G
Gene:: TK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78175549C>G, NC_000017.10:g.76171630C>G, NG_051962.1:g.16656G>C, NM_003258.5:c.373G>C, NM_003258.4:c.373G>C, NM_001346663.2:c.373G>C, NM_001346663.1:c.373G>C, NM_001363848.1:c.373G>C, NP_003249.3:p.Asp125His, NP_001333592.1:p.Asp125His, NP_001350777.1:p.Asp125His

Select item 142452539820.

rs1424525398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78182592 (GRCh38)
17:76178673 (GRCh37)
Canonical SPDI:: NC_000017.11:78182591:C:T
Gene:: TK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.78182592C>T, NC_000017.10:g.76178673C>T, NG_051962.1:g.9613G>A, NM_003258.5:c.300G>A, NM_003258.4:c.300G>A, NM_001346663.2:c.300G>A, NM_001346663.1:c.300G>A, NM_001363848.1:c.300G>A

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