SNP Links for Protein (Select 767920791) - SNP

Links from Protein

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Select item 14909698951.

rs1490969895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:171053848 (GRCh38)
2:171910358 (GRCh37)
Canonical SPDI:: NC_000002.12:171053847:A:T
Gene:: TLK1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.171053848A>T, NC_000002.11:g.171910358A>T, NM_012290.5:c.645T>A, NM_012290.4:c.645T>A, XM_011512238.4:c.645T>A, XM_011512238.3:c.645T>A, XM_011512238.2:c.645T>A, XM_011512238.1:c.645T>A, XM_017005422.3:c.-7T>A, XM_017005422.2:c.-7T>A, XM_017005422.1:c.-7T>A, NM_001136554.2:c.501T>A, NM_001136554.1:c.501T>A, NM_001136555.2:c.357T>A, NM_001136555.1:c.357T>A, XM_047446530.1:c.645T>A, NP_036422.3:p.Asp215Glu, XP_011510540.1:p.Asp215Glu, NP_001130026.1:p.Asp167Glu, NP_001130027.1:p.Asp119Glu, XP_047302486.1:p.Asp215Glu

Select item 14894732832.

rs1489473283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:171160337 (GRCh38)
2:172016847 (GRCh37)
Canonical SPDI:: NC_000002.12:171160336:G:A
Gene:: TLK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.171160337G>A, NC_000002.11:g.172016847G>A, NM_012290.5:c.92C>T, NM_012290.4:c.92C>T, XM_011512238.4:c.92C>T, XM_011512238.3:c.92C>T, XM_011512238.2:c.92C>T, XM_011512238.1:c.92C>T, XM_017005422.3:c.-441C>T, XM_017005422.2:c.-441C>T, XM_017005422.1:c.-441C>T, XM_047446530.1:c.92C>T, NP_036422.3:p.Ala31Val, XP_011510540.1:p.Ala31Val, XP_047302486.1:p.Ala31Val

Select item 14869093963.

rs1486909396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:171053764 (GRCh38)
2:171910274 (GRCh37)
Canonical SPDI:: NC_000002.12:171053763:G:C
Gene:: TLK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.171053764G>C, NC_000002.11:g.171910274G>C, NM_012290.5:c.729C>G, NM_012290.4:c.729C>G, XM_011512238.4:c.729C>G, XM_011512238.3:c.729C>G, XM_011512238.2:c.729C>G, XM_011512238.1:c.729C>G, XM_017005422.3:c.78C>G, XM_017005422.2:c.78C>G, XM_017005422.1:c.78C>G, NM_001136554.2:c.585C>G, NM_001136554.1:c.585C>G, NM_001136555.2:c.441C>G, NM_001136555.1:c.441C>G, XM_047446530.1:c.729C>G

Select item 14829865704.

rs1482986570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:171160381 (GRCh38)
2:172016891 (GRCh37)
Canonical SPDI:: NC_000002.12:171160380:C:A,NC_000002.12:171160380:C:T
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.171160381C>A, NC_000002.12:g.171160381C>T, NC_000002.11:g.172016891C>A, NC_000002.11:g.172016891C>T, NM_012290.5:c.48G>T, NM_012290.5:c.48G>A, NM_012290.4:c.48G>T, NM_012290.4:c.48G>A, XM_011512238.4:c.48G>T, XM_011512238.4:c.48G>A, XM_011512238.3:c.48G>T, XM_011512238.3:c.48G>A, XM_011512238.2:c.48G>T, XM_011512238.2:c.48G>A, XM_011512238.1:c.48G>T, XM_011512238.1:c.48G>A, XM_017005422.3:c.-485G>T, XM_017005422.3:c.-485G>A, XM_017005422.2:c.-485G>T, XM_017005422.2:c.-485G>A, XM_017005422.1:c.-485G>T, XM_017005422.1:c.-485G>A, XM_047446530.1:c.48G>T, XM_047446530.1:c.48G>A, NP_036422.3:p.Trp16Cys, NP_036422.3:p.Trp16Ter, XP_011510540.1:p.Trp16Cys, XP_011510540.1:p.Trp16Ter, XP_047302486.1:p.Trp16Cys, XP_047302486.1:p.Trp16Ter

Select item 14827149195.

rs1482714919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:171056561 (GRCh38)
2:171913071 (GRCh37)
Canonical SPDI:: NC_000002.12:171056560:C:G,NC_000002.12:171056560:C:T
Gene:: TLK1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.171056561C>G, NC_000002.12:g.171056561C>T, NC_000002.11:g.171913071C>G, NC_000002.11:g.171913071C>T, NM_012290.5:c.459G>C, NM_012290.5:c.459G>A, NM_012290.4:c.459G>C, NM_012290.4:c.459G>A, XM_011512238.4:c.459G>C, XM_011512238.4:c.459G>A, XM_011512238.3:c.459G>C, XM_011512238.3:c.459G>A, XM_011512238.2:c.459G>C, XM_011512238.2:c.459G>A, XM_011512238.1:c.459G>C, XM_011512238.1:c.459G>A, XM_017005422.3:c.-193G>C, XM_017005422.3:c.-193G>A, XM_017005422.2:c.-193G>C, XM_017005422.2:c.-193G>A, XM_017005422.1:c.-193G>C, XM_017005422.1:c.-193G>A, NM_001136554.2:c.315G>C, NM_001136554.2:c.315G>A, NM_001136554.1:c.315G>C, NM_001136554.1:c.315G>A, NM_001136555.2:c.171G>C, NM_001136555.2:c.171G>A, NM_001136555.1:c.171G>C, NM_001136555.1:c.171G>A, XM_047446530.1:c.459G>C, XM_047446530.1:c.459G>A, NP_036422.3:p.Gln153His, XP_011510540.1:p.Gln153His, NP_001130026.1:p.Gln105His, NP_001130027.1:p.Gln57His, XP_047302486.1:p.Gln153His

Select item 14817070356.

rs1481707035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:171053761 (GRCh38)
2:171910271 (GRCh37)
Canonical SPDI:: NC_000002.12:171053760:C:A,NC_000002.12:171053760:C:T
Gene:: TLK1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.171053761C>A, NC_000002.12:g.171053761C>T, NC_000002.11:g.171910271C>A, NC_000002.11:g.171910271C>T, NM_012290.5:c.732G>T, NM_012290.5:c.732G>A, NM_012290.4:c.732G>T, NM_012290.4:c.732G>A, XM_011512238.4:c.732G>T, XM_011512238.4:c.732G>A, XM_011512238.3:c.732G>T, XM_011512238.3:c.732G>A, XM_011512238.2:c.732G>T, XM_011512238.2:c.732G>A, XM_011512238.1:c.732G>T, XM_011512238.1:c.732G>A, XM_017005422.3:c.81G>T, XM_017005422.3:c.81G>A, XM_017005422.2:c.81G>T, XM_017005422.2:c.81G>A, XM_017005422.1:c.81G>T, XM_017005422.1:c.81G>A, NM_001136554.2:c.588G>T, NM_001136554.2:c.588G>A, NM_001136554.1:c.588G>T, NM_001136554.1:c.588G>A, NM_001136555.2:c.444G>T, NM_001136555.2:c.444G>A, NM_001136555.1:c.444G>T, NM_001136555.1:c.444G>A, XM_047446530.1:c.732G>T, XM_047446530.1:c.732G>A, NP_036422.3:p.Arg244Ser, XP_011510540.1:p.Arg244Ser, XP_016860911.1:p.Arg27Ser, NP_001130026.1:p.Arg196Ser, NP_001130027.1:p.Arg148Ser, XP_047302486.1:p.Arg244Ser

Select item 14802120837.

rs1480212083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:171049939 (GRCh38)
2:171906449 (GRCh37)
Canonical SPDI:: NC_000002.12:171049938:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.004673/1 (Vietnamese)
HGVS:: NC_000002.12:g.171049939T>C, NC_000002.11:g.171906449T>C, NM_012290.5:c.855A>G, NM_012290.4:c.855A>G, XM_011512238.4:c.855A>G, XM_011512238.3:c.855A>G, XM_011512238.2:c.855A>G, XM_011512238.1:c.855A>G, XM_017005422.3:c.204A>G, XM_017005422.2:c.204A>G, XM_017005422.1:c.204A>G, NM_001136554.2:c.711A>G, NM_001136554.1:c.711A>G, NM_001136555.2:c.567A>G, NM_001136555.1:c.567A>G, XM_047446530.1:c.855A>G

Select item 14727477398.

rs1472747739 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:171117823 (GRCh38)
2:171974333 (GRCh37)
Canonical SPDI:: NC_000002.12:171117822:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.171117823T>C, NC_000002.11:g.171974333T>C, NM_012290.5:c.174A>G, NM_012290.4:c.174A>G, XM_011512238.4:c.174A>G, XM_011512238.3:c.174A>G, XM_011512238.2:c.174A>G, XM_011512238.1:c.174A>G, NM_001136554.2:c.30A>G, NM_001136554.1:c.30A>G, XM_047446530.1:c.174A>G

Select item 14722205929.

rs1472220592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:171056478 (GRCh38)
2:171912988 (GRCh37)
Canonical SPDI:: NC_000002.12:171056477:G:T
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.171056478G>T, NC_000002.11:g.171912988G>T, NM_012290.5:c.542C>A, NM_012290.4:c.542C>A, XM_011512238.4:c.542C>A, XM_011512238.3:c.542C>A, XM_011512238.2:c.542C>A, XM_011512238.1:c.542C>A, XM_017005422.3:c.-110C>A, XM_017005422.2:c.-110C>A, XM_017005422.1:c.-110C>A, NM_001136554.2:c.398C>A, NM_001136554.1:c.398C>A, NM_001136555.2:c.254C>A, NM_001136555.1:c.254C>A, XM_047446530.1:c.542C>A, NP_036422.3:p.Ser181Tyr, XP_011510540.1:p.Ser181Tyr, NP_001130026.1:p.Ser133Tyr, NP_001130027.1:p.Ser85Tyr, XP_047302486.1:p.Ser181Tyr

Select item 147129298310.

rs1471292983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:171117854 (GRCh38)
2:171974364 (GRCh37)
Canonical SPDI:: NC_000002.12:171117853:G:A
Gene:: TLK1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.171117854G>A, NC_000002.11:g.171974364G>A, NM_012290.5:c.143C>T, NM_012290.4:c.143C>T, XM_011512238.4:c.143C>T, XM_011512238.3:c.143C>T, XM_011512238.2:c.143C>T, XM_011512238.1:c.143C>T, NM_001136554.2:c.-2C>T, NM_001136554.1:c.-2C>T, XM_047446530.1:c.143C>T, NP_036422.3:p.Ala48Val, XP_011510540.1:p.Ala48Val, XP_047302486.1:p.Ala48Val

Select item 147038822611.

rs1470388226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:171049845 (GRCh38)
2:171906355 (GRCh37)
Canonical SPDI:: NC_000002.12:171049844:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.171049845T>C, NC_000002.11:g.171906355T>C, NM_012290.5:c.949A>G, NM_012290.4:c.949A>G, XM_011512238.4:c.949A>G, XM_011512238.3:c.949A>G, XM_011512238.2:c.949A>G, XM_011512238.1:c.949A>G, XM_017005422.3:c.298A>G, XM_017005422.2:c.298A>G, XM_017005422.1:c.298A>G, NM_001136554.2:c.805A>G, NM_001136554.1:c.805A>G, NM_001136555.2:c.661A>G, NM_001136555.1:c.661A>G, XM_047446530.1:c.949A>G, NP_036422.3:p.Thr317Ala, XP_011510540.1:p.Thr317Ala, XP_016860911.1:p.Thr100Ala, NP_001130026.1:p.Thr269Ala, NP_001130027.1:p.Thr221Ala, XP_047302486.1:p.Thr317Ala

Select item 146863066212.

rs1468630662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:170993791 (GRCh38)
2:171850301 (GRCh37)
Canonical SPDI:: NC_000002.12:170993790:T:G
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.170993791T>G, NC_000002.11:g.171850301T>G, NM_012290.5:c.2290A>C, NM_012290.4:c.2290A>C, XM_011512238.4:c.2101A>C, XM_011512238.3:c.2101A>C, XM_011512238.2:c.2101A>C, XM_011512238.1:c.2101A>C, XM_017005422.3:c.1639A>C, XM_017005422.2:c.1639A>C, XM_017005422.1:c.1639A>C, NM_001136554.2:c.2146A>C, NM_001136554.1:c.2146A>C, NM_001136555.2:c.2002A>C, NM_001136555.1:c.2002A>C, NP_036422.3:p.Ile764Leu, XP_011510540.1:p.Ile701Leu, XP_016860911.1:p.Ile547Leu, NP_001130026.1:p.Ile716Leu, NP_001130027.1:p.Ile668Leu

Select item 146793575813.

rs1467935758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:171006498 (GRCh38)
2:171863008 (GRCh37)
Canonical SPDI:: NC_000002.12:171006497:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.171006498T>C, NC_000002.11:g.171863008T>C, NM_012290.5:c.1744A>G, NM_012290.4:c.1744A>G, XM_011512238.4:c.1555A>G, XM_011512238.3:c.1555A>G, XM_011512238.2:c.1555A>G, XM_011512238.1:c.1555A>G, XM_017005422.3:c.1093A>G, XM_017005422.2:c.1093A>G, XM_017005422.1:c.1093A>G, NM_001136554.2:c.1600A>G, NM_001136554.1:c.1600A>G, NM_001136555.2:c.1456A>G, NM_001136555.1:c.1456A>G, NP_036422.3:p.Ile582Val, XP_011510540.1:p.Ile519Val, XP_016860911.1:p.Ile365Val, NP_001130026.1:p.Ile534Val, NP_001130027.1:p.Ile486Val

Select item 146782371314.

rs1467823713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:171049875 (GRCh38)
2:171906385 (GRCh37)
Canonical SPDI:: NC_000002.12:171049874:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.171049875T>C, NC_000002.11:g.171906385T>C, NM_012290.5:c.919A>G, NM_012290.4:c.919A>G, XM_011512238.4:c.919A>G, XM_011512238.3:c.919A>G, XM_011512238.2:c.919A>G, XM_011512238.1:c.919A>G, XM_017005422.3:c.268A>G, XM_017005422.2:c.268A>G, XM_017005422.1:c.268A>G, NM_001136554.2:c.775A>G, NM_001136554.1:c.775A>G, NM_001136555.2:c.631A>G, NM_001136555.1:c.631A>G, XM_047446530.1:c.919A>G, NP_036422.3:p.Arg307Gly, XP_011510540.1:p.Arg307Gly, XP_016860911.1:p.Arg90Gly, NP_001130026.1:p.Arg259Gly, NP_001130027.1:p.Arg211Gly, XP_047302486.1:p.Arg307Gly

Select item 146585091815.

rs1465850918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:171011398 (GRCh38)
2:171867908 (GRCh37)
Canonical SPDI:: NC_000002.12:171011397:C:G
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.171011398C>G, NC_000002.11:g.171867908C>G, NM_012290.5:c.1391G>C, NM_012290.4:c.1391G>C, XM_011512238.4:c.1202G>C, XM_011512238.3:c.1202G>C, XM_011512238.2:c.1202G>C, XM_011512238.1:c.1202G>C, XM_017005422.3:c.740G>C, XM_017005422.2:c.740G>C, XM_017005422.1:c.740G>C, NM_001136554.2:c.1247G>C, NM_001136554.1:c.1247G>C, NM_001136555.2:c.1103G>C, NM_001136555.1:c.1103G>C, NP_036422.3:p.Arg464Thr, XP_011510540.1:p.Arg401Thr, XP_016860911.1:p.Arg247Thr, NP_001130026.1:p.Arg416Thr, NP_001130027.1:p.Arg368Thr

Select item 146415387316.

rs1464153873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:171055169 (GRCh38)
2:171911679 (GRCh37)
Canonical SPDI:: NC_000002.12:171055168:G:A,NC_000002.12:171055168:G:T
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00067/8 (ALFA)
T=0.00021/6 (TOMMO)
A=0.01953/57 (KOREAN)
HGVS:: NC_000002.12:g.171055169G>A, NC_000002.12:g.171055169G>T, NC_000002.11:g.171911679G>A, NC_000002.11:g.171911679G>T, NM_012290.5:c.553C>T, NM_012290.5:c.553C>A, NM_012290.4:c.553C>T, NM_012290.4:c.553C>A, XM_011512238.4:c.553C>T, XM_011512238.4:c.553C>A, XM_011512238.3:c.553C>T, XM_011512238.3:c.553C>A, XM_011512238.2:c.553C>T, XM_011512238.2:c.553C>A, XM_011512238.1:c.553C>T, XM_011512238.1:c.553C>A, XM_017005422.3:c.-99C>T, XM_017005422.3:c.-99C>A, XM_017005422.2:c.-99C>T, XM_017005422.2:c.-99C>A, XM_017005422.1:c.-99C>T, XM_017005422.1:c.-99C>A, NM_001136554.2:c.409C>T, NM_001136554.2:c.409C>A, NM_001136554.1:c.409C>T, NM_001136554.1:c.409C>A, NM_001136555.2:c.265C>T, NM_001136555.2:c.265C>A, NM_001136555.1:c.265C>T, NM_001136555.1:c.265C>A, XM_047446530.1:c.553C>T, XM_047446530.1:c.553C>A, NP_036422.3:p.Arg185Ter, XP_011510540.1:p.Arg185Ter, NP_001130026.1:p.Arg137Ter, NP_001130027.1:p.Arg89Ter, XP_047302486.1:p.Arg185Ter

Select item 145905537217.

rs1459055372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:171160362 (GRCh38)
2:172016872 (GRCh37)
Canonical SPDI:: NC_000002.12:171160361:G:A
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.171160362G>A, NC_000002.11:g.172016872G>A, NM_012290.5:c.67C>T, NM_012290.4:c.67C>T, XM_011512238.4:c.67C>T, XM_011512238.3:c.67C>T, XM_011512238.2:c.67C>T, XM_011512238.1:c.67C>T, XM_017005422.3:c.-466C>T, XM_017005422.2:c.-466C>T, XM_017005422.1:c.-466C>T, XM_047446530.1:c.67C>T, NP_036422.3:p.Pro23Ser, XP_011510540.1:p.Pro23Ser, XP_047302486.1:p.Pro23Ser

Select item 145886316518.

rs1458863165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:171055099 (GRCh38)
2:171911609 (GRCh37)
Canonical SPDI:: NC_000002.12:171055098:G:A
Gene:: TLK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.171055099G>A, NC_000002.11:g.171911609G>A, NM_012290.5:c.623C>T, NM_012290.4:c.623C>T, XM_011512238.4:c.623C>T, XM_011512238.3:c.623C>T, XM_011512238.2:c.623C>T, XM_011512238.1:c.623C>T, XM_017005422.3:c.-29C>T, XM_017005422.2:c.-29C>T, XM_017005422.1:c.-29C>T, NM_001136554.2:c.479C>T, NM_001136554.1:c.479C>T, NM_001136555.2:c.335C>T, NM_001136555.1:c.335C>T, XM_047446530.1:c.623C>T, NP_036422.3:p.Ser208Phe, XP_011510540.1:p.Ser208Phe, NP_001130026.1:p.Ser160Phe, NP_001130027.1:p.Ser112Phe, XP_047302486.1:p.Ser208Phe

Select item 145851908619.

rs1458519086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:170996743 (GRCh38)
2:171853253 (GRCh37)
Canonical SPDI:: NC_000002.12:170996742:T:C
Gene:: TLK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.170996743T>C, NC_000002.11:g.171853253T>C, NM_012290.5:c.2034A>G, NM_012290.4:c.2034A>G, XM_011512238.4:c.1845A>G, XM_011512238.3:c.1845A>G, XM_011512238.2:c.1845A>G, XM_011512238.1:c.1845A>G, XM_017005422.3:c.1383A>G, XM_017005422.2:c.1383A>G, XM_017005422.1:c.1383A>G, NM_001136554.2:c.1890A>G, NM_001136554.1:c.1890A>G, NM_001136555.2:c.1746A>G, NM_001136555.1:c.1746A>G

Select item 145662189520.

rs1456621895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:171049936 (GRCh38)
2:171906446 (GRCh37)
Canonical SPDI:: NC_000002.12:171049935:C:T
Gene:: TLK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.171049936C>T, NC_000002.11:g.171906446C>T, NM_012290.5:c.858G>A, NM_012290.4:c.858G>A, XM_011512238.4:c.858G>A, XM_011512238.3:c.858G>A, XM_011512238.2:c.858G>A, XM_011512238.1:c.858G>A, XM_017005422.3:c.207G>A, XM_017005422.2:c.207G>A, XM_017005422.1:c.207G>A, NM_001136554.2:c.714G>A, NM_001136554.1:c.714G>A, NM_001136555.2:c.570G>A, NM_001136555.1:c.570G>A, XM_047446530.1:c.858G>A

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