SNP Links for Protein (Select 539847752) - SNP

Links from Protein

Items: 1 to 20 of 118

<< First< Prev

Page of 6

Next >Last >>

Select item 14820074981.

rs1482007498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:238239537 (GRCh38)
2:239148178 (GRCh37)
Canonical SPDI:: NC_000002.12:238239536:A:T
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.238239537A>T, NC_000002.11:g.239148178A>T, NM_018645.6:c.200T>A, NM_018645.5:c.200T>A, NM_018645.4:c.200T>A, NM_001142853.3:c.194T>A, NM_001142853.2:c.194T>A, NM_001142853.1:c.194T>A, NM_001282434.2:c.200T>A, NM_001282434.1:c.200T>A, NP_061115.2:p.Leu67Gln, NP_001136325.1:p.Leu65Gln, NP_001269363.1:p.Leu67Gln

Select item 14760618372.

rs1476061837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:238239545 (GRCh38)
2:239148186 (GRCh37)
Canonical SPDI:: NC_000002.12:238239544:G:A
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.238239545G>A, NC_000002.11:g.239148186G>A, NM_018645.6:c.192C>T, NM_018645.5:c.192C>T, NM_018645.4:c.192C>T, NM_001142853.3:c.186C>T, NM_001142853.2:c.186C>T, NM_001142853.1:c.186C>T, NM_001282434.2:c.192C>T, NM_001282434.1:c.192C>T

Select item 14553563933.

rs1455356393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGTGGCGC>- [Show Flanks]
Chromosome:: 2:238239894 (GRCh38)
2:239148535 (GRCh37)
Canonical SPDI:: NC_000002.12:238239890:CGCGGGTGGCGC:CGC
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.238239894_238239902del, NC_000002.11:g.239148535_239148543del, NM_018645.6:c.7_15del, NM_018645.5:c.7_15del, NM_018645.4:c.7_15del, NM_001142853.3:c.7_15del, NM_001142853.2:c.7_15del, NM_001142853.1:c.7_15del, NM_001282434.2:c.7_15del, NM_001282434.1:c.7_15del, NP_061115.2:p.Pro3_Ala5del, NP_001136325.1:p.Pro3_Ala5del, NP_001269363.1:p.Pro3_Ala5del

Select item 14448202884.

rs1444820288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:238239694 (GRCh38)
2:239148335 (GRCh37)
Canonical SPDI:: NC_000002.12:238239693:C:A
Gene:: HES6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.238239694C>A, NC_000002.11:g.239148335C>A, NM_018645.6:c.135G>T, NM_018645.5:c.135G>T, NM_018645.4:c.135G>T, NM_001142853.3:c.135G>T, NM_001142853.2:c.135G>T, NM_001142853.1:c.135G>T, NM_001282434.2:c.135G>T, NM_001282434.1:c.135G>T

Select item 14431025525.

rs1443102552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:238239163 (GRCh38)
2:239147804 (GRCh37)
Canonical SPDI:: NC_000002.12:238239162:C:A,NC_000002.12:238239162:C:G,NC_000002.12:238239162:C:T
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238239163C>A, NC_000002.12:g.238239163C>G, NC_000002.12:g.238239163C>T, NC_000002.11:g.239147804C>A, NC_000002.11:g.239147804C>G, NC_000002.11:g.239147804C>T, NM_018645.6:c.339G>T, NM_018645.6:c.339G>C, NM_018645.6:c.339G>A, NM_018645.5:c.339G>T, NM_018645.5:c.339G>C, NM_018645.5:c.339G>A, NM_018645.4:c.339G>T, NM_018645.4:c.339G>C, NM_018645.4:c.339G>A, NM_001142853.3:c.333G>T, NM_001142853.3:c.333G>C, NM_001142853.3:c.333G>A, NM_001142853.2:c.333G>T, NM_001142853.2:c.333G>C, NM_001142853.2:c.333G>A, NM_001142853.1:c.333G>T, NM_001142853.1:c.333G>C, NM_001142853.1:c.333G>A, NM_001282434.2:c.299G>T, NM_001282434.2:c.299G>C, NM_001282434.2:c.299G>A, NM_001282434.1:c.299G>T, NM_001282434.1:c.299G>C, NM_001282434.1:c.299G>A, NP_001269363.1:p.Arg100Leu, NP_001269363.1:p.Arg100Pro, NP_001269363.1:p.Arg100His

Select item 14378964096.

rs1437896409 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:238239830 (GRCh38)
2:239148471 (GRCh37)
Canonical SPDI:: NC_000002.12:238239829:GG:
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238239830_238239831del, NC_000002.11:g.239148471_239148472del, NM_018645.6:c.75_76del, NM_018645.5:c.75_76del, NM_018645.4:c.75_76del, NM_001142853.3:c.75_76del, NM_001142853.2:c.75_76del, NM_001142853.1:c.75_76del, NM_001282434.2:c.75_76del, NM_001282434.1:c.75_76del, NP_061115.2:p.Asp25fs, NP_001136325.1:p.Asp25fs, NP_001269363.1:p.Asp25fs

Select item 14284305427.

rs1428430542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:238239686 (GRCh38)
2:239148327 (GRCh37)
Canonical SPDI:: NC_000002.12:238239685:A:C
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.238239686A>C, NC_000002.11:g.239148327A>C, NM_018645.6:c.143T>G, NM_018645.5:c.143T>G, NM_018645.4:c.143T>G, NM_001142853.3:c.143T>G, NM_001142853.2:c.143T>G, NM_001142853.1:c.143T>G, NM_001282434.2:c.143T>G, NM_001282434.1:c.143T>G, NP_061115.2:p.Leu48Arg, NP_001136325.1:p.Leu48Arg, NP_001269363.1:p.Leu48Arg

Select item 14195457178.

rs1419545717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:238239889 (GRCh38)
2:239148530 (GRCh37)
Canonical SPDI:: NC_000002.12:238239888:G:A,NC_000002.12:238239888:G:T
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238239889G>A, NC_000002.12:g.238239889G>T, NC_000002.11:g.239148530G>A, NC_000002.11:g.239148530G>T, NM_018645.6:c.17C>T, NM_018645.6:c.17C>A, NM_018645.5:c.17C>T, NM_018645.5:c.17C>A, NM_018645.4:c.17C>T, NM_018645.4:c.17C>A, NM_001142853.3:c.17C>T, NM_001142853.3:c.17C>A, NM_001142853.2:c.17C>T, NM_001142853.2:c.17C>A, NM_001142853.1:c.17C>T, NM_001142853.1:c.17C>A, NM_001282434.2:c.17C>T, NM_001282434.2:c.17C>A, NM_001282434.1:c.17C>T, NM_001282434.1:c.17C>A, NP_061115.2:p.Ala6Val, NP_061115.2:p.Ala6Glu, NP_001136325.1:p.Ala6Val, NP_001136325.1:p.Ala6Glu, NP_001269363.1:p.Ala6Val, NP_001269363.1:p.Ala6Glu

Select item 14139770899.

rs1413977089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:238239671 (GRCh38)
2:239148312 (GRCh37)
Canonical SPDI:: NC_000002.12:238239670:G:A
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.238239671G>A, NC_000002.11:g.239148312G>A, NM_018645.6:c.158C>T, NM_018645.5:c.158C>T, NM_018645.4:c.158C>T, NM_001142853.3:c.158C>T, NM_001142853.2:c.158C>T, NM_001142853.1:c.158C>T, NM_001282434.2:c.158C>T, NM_001282434.1:c.158C>T, NP_061115.2:p.Ala53Val, NP_001136325.1:p.Ala53Val, NP_001269363.1:p.Ala53Val

Select item 141147775010.

rs1411477750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:238239558 (GRCh38)
2:239148199 (GRCh37)
Canonical SPDI:: NC_000002.12:238239557:T:G
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.238239558T>G, NC_000002.11:g.239148199T>G, NM_018645.6:c.179A>C, NM_018645.5:c.179A>C, NM_018645.4:c.179A>C, NM_001142853.3:c.173A>C, NM_001142853.2:c.173A>C, NM_001142853.1:c.173A>C, NM_001282434.2:c.179A>C, NM_001282434.1:c.179A>C, NP_061115.2:p.Lys60Thr, NP_001136325.1:p.Lys58Thr, NP_001269363.1:p.Lys60Thr

Select item 141019074611.

rs1410190746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:238239226 (GRCh38)
2:239147867 (GRCh37)
Canonical SPDI:: NC_000002.12:238239225:C:A
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.238239226C>A, NC_000002.11:g.239147867C>A, NM_018645.6:c.276G>T, NM_018645.5:c.276G>T, NM_018645.4:c.276G>T, NM_001142853.3:c.270G>T, NM_001142853.2:c.270G>T, NM_001142853.1:c.270G>T, NM_001282434.2:c.236G>T, NM_001282434.1:c.236G>T, NP_001269363.1:p.Arg79Leu

Select item 140153959812.

rs1401539598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:238239562 (GRCh38)
2:239148203 (GRCh37)
Canonical SPDI:: NC_000002.12:238239561:C:A
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.238239562C>A, NC_000002.11:g.239148203C>A, NM_018645.6:c.175G>T, NM_018645.5:c.175G>T, NM_018645.4:c.175G>T, NM_001142853.3:c.169G>T, NM_001142853.2:c.169G>T, NM_001142853.1:c.169G>T, NM_001282434.2:c.175G>T, NM_001282434.1:c.175G>T, NP_061115.2:p.Ala59Ser, NP_001136325.1:p.Ala57Ser, NP_001269363.1:p.Ala59Ser

Select item 139909848913.

rs1399098489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:238239235 (GRCh38)
2:239147876 (GRCh37)
Canonical SPDI:: NC_000002.12:238239234:C:T
Gene:: HES6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238239235C>T, NC_000002.11:g.239147876C>T, NM_018645.6:c.267G>A, NM_018645.5:c.267G>A, NM_018645.4:c.267G>A, NM_001142853.3:c.261G>A, NM_001142853.2:c.261G>A, NM_001142853.1:c.261G>A, NM_001282434.2:c.227G>A, NM_001282434.1:c.227G>A, NP_001269363.1:p.Arg76Lys

Select item 139612340214.

rs1396123402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:238239198 (GRCh38)
2:239147839 (GRCh37)
Canonical SPDI:: NC_000002.12:238239197:G:T
Gene:: HES6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.238239198G>T, NC_000002.11:g.239147839G>T, NM_018645.6:c.304C>A, NM_018645.5:c.304C>A, NM_018645.4:c.304C>A, NM_001142853.3:c.298C>A, NM_001142853.2:c.298C>A, NM_001142853.1:c.298C>A, NM_001282434.2:c.264C>A, NM_001282434.1:c.264C>A, NP_061115.2:p.Gln102Lys, NP_001136325.1:p.Gln100Lys

Select item 138340843615.

rs1383408436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:238239139 (GRCh38)
2:239147780 (GRCh37)
Canonical SPDI:: NC_000002.12:238239138:G:A
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.238239139G>A, NC_000002.11:g.239147780G>A, NM_018645.6:c.363C>T, NM_018645.5:c.363C>T, NM_018645.4:c.363C>T, NM_001142853.3:c.357C>T, NM_001142853.2:c.357C>T, NM_001142853.1:c.357C>T, NM_001282434.2:c.323C>T, NM_001282434.1:c.323C>T, NP_001269363.1:p.Ser108Leu

Select item 138240975916.

rs1382409759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:238239210 (GRCh38)
2:239147851 (GRCh37)
Canonical SPDI:: NC_000002.12:238239209:C:T
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.238239210C>T, NC_000002.11:g.239147851C>T, NM_018645.6:c.292G>A, NM_018645.5:c.292G>A, NM_018645.4:c.292G>A, NM_001142853.3:c.286G>A, NM_001142853.2:c.286G>A, NM_001142853.1:c.286G>A, NM_001282434.2:c.252G>A, NM_001282434.1:c.252G>A, NP_061115.2:p.Ala98Thr, NP_001136325.1:p.Ala96Thr

Select item 137777762317.

rs1377777623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:238239685 (GRCh38)
2:239148326 (GRCh37)
Canonical SPDI:: NC_000002.12:238239684:C:A,NC_000002.12:238239684:C:T
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.238239685C>A, NC_000002.12:g.238239685C>T, NC_000002.11:g.239148326C>A, NC_000002.11:g.239148326C>T, NM_018645.6:c.144G>T, NM_018645.6:c.144G>A, NM_018645.5:c.144G>T, NM_018645.5:c.144G>A, NM_018645.4:c.144G>T, NM_018645.4:c.144G>A, NM_001142853.3:c.144G>T, NM_001142853.3:c.144G>A, NM_001142853.2:c.144G>T, NM_001142853.2:c.144G>A, NM_001142853.1:c.144G>T, NM_001142853.1:c.144G>A, NM_001282434.2:c.144G>T, NM_001282434.2:c.144G>A, NM_001282434.1:c.144G>T, NM_001282434.1:c.144G>A

Select item 137672294618.

rs1376722946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:238239248 (GRCh38)
2:239147889 (GRCh37)
Canonical SPDI:: NC_000002.12:238239247:C:T
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.238239248C>T, NC_000002.11:g.239147889C>T, NM_018645.6:c.254G>A, NM_018645.5:c.254G>A, NM_018645.4:c.254G>A, NM_001142853.3:c.248G>A, NM_001142853.2:c.248G>A, NM_001142853.1:c.248G>A, NM_001282434.2:c.214G>A, NM_001282434.1:c.214G>A, NP_061115.2:p.Arg85His, NP_001136325.1:p.Arg83His, NP_001269363.1:p.Ala72Thr

Select item 136400535819.

rs1364005358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:238239186 (GRCh38)
2:239147827 (GRCh37)
Canonical SPDI:: NC_000002.12:238239185:C:G,NC_000002.12:238239185:C:T
Gene:: HES6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238239186C>G, NC_000002.12:g.238239186C>T, NC_000002.11:g.239147827C>G, NC_000002.11:g.239147827C>T, NM_018645.6:c.316G>C, NM_018645.6:c.316G>A, NM_018645.5:c.316G>C, NM_018645.5:c.316G>A, NM_018645.4:c.316G>C, NM_018645.4:c.316G>A, NM_001142853.3:c.310G>C, NM_001142853.3:c.310G>A, NM_001142853.2:c.310G>C, NM_001142853.2:c.310G>A, NM_001142853.1:c.310G>C, NM_001142853.1:c.310G>A, NM_001282434.2:c.276G>C, NM_001282434.2:c.276G>A, NM_001282434.1:c.276G>C, NM_001282434.1:c.276G>A, NP_061115.2:p.Glu106Gln, NP_061115.2:p.Glu106Lys, NP_001136325.1:p.Glu104Gln, NP_001136325.1:p.Glu104Lys

Select item 135757832420.

rs1357578324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:238239675 (GRCh38)
2:239148316 (GRCh37)
Canonical SPDI:: NC_000002.12:238239674:G:C
Gene:: HES6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.238239675G>C, NC_000002.11:g.239148316G>C, NM_018645.6:c.154C>G, NM_018645.5:c.154C>G, NM_018645.4:c.154C>G, NM_001142853.3:c.154C>G, NM_001142853.2:c.154C>G, NM_001142853.1:c.154C>G, NM_001282434.2:c.154C>G, NM_001282434.1:c.154C>G, NP_061115.2:p.Leu52Val, NP_001136325.1:p.Leu52Val, NP_001269363.1:p.Leu52Val

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 118

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity