SNP Links for Protein (Select 1196925420) - SNP

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Links from Protein

Items: 1 to 20 of 1810

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Select item 14908211521.

rs1490821152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:182282 (GRCh38)
5:182397 (GRCh37)
Canonical SPDI:: NC_000005.10:182281:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.182282G>A, NC_000005.9:g.182397G>A, NG_054915.1:g.133268G>A, NM_052909.5:c.4843G>A, NM_052909.4:c.4843G>A, NM_052909.3:c.3775G>A, NP_443141.4:p.Gly1615Arg

Select item 14906727472.

rs1490672747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172918 (GRCh38)
5:173033 (GRCh37)
Canonical SPDI:: NC_000005.10:172917:C:T
Gene:: PLEKHG4B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000005.10:g.172918C>T, NC_000005.9:g.173033C>T, NG_054915.1:g.123904C>T, NM_052909.5:c.4072C>T, NM_052909.4:c.4072C>T, NM_052909.3:c.3004C>T, NP_443141.4:p.Gln1358Ter

Select item 14898868793.

rs1489886879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139552 (GRCh38)
5:139667 (GRCh37)
Canonical SPDI:: NC_000005.10:139551:C:T
Gene:: PLEKHG4B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139552C>T, NC_000005.9:g.139667C>T, NG_054915.1:g.90538C>T, NM_052909.5:c.313C>T, NM_052909.4:c.313C>T, NP_443141.4:p.Gln105Ter

Select item 14870675634.

rs1487067563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:139907 (GRCh38)
5:140022 (GRCh37)
Canonical SPDI:: NC_000005.10:139906:G:A,NC_000005.10:139906:G:T
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139907G>A, NC_000005.10:g.139907G>T, NC_000005.9:g.140022G>A, NC_000005.9:g.140022G>T, NG_054915.1:g.90893G>A, NG_054915.1:g.90893G>T, NM_052909.5:c.668G>A, NM_052909.5:c.668G>T, NM_052909.4:c.668G>A, NM_052909.4:c.668G>T, NP_443141.4:p.Ser223Asn, NP_443141.4:p.Ser223Ile

Select item 14852863015.

rs1485286301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:113304 (GRCh38)
5:113419 (GRCh37)
Canonical SPDI:: NC_000005.10:113303:A:C
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.004367/8 (Korea1K)
HGVS:: NC_000005.10:g.113304A>C, NC_000005.9:g.113419A>C, NG_054915.1:g.64290A>C, NM_052909.5:c.99A>C, NM_052909.4:c.99A>C

Select item 14845484886.

rs1484548488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140263 (GRCh38)
5:140378 (GRCh37)
Canonical SPDI:: NC_000005.10:140262:G:A
Gene:: PLEKHG4B (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_000005.10:g.140263G>A, NC_000005.9:g.140378G>A, NG_054915.1:g.91249G>A, NM_052909.5:c.1024G>A, NM_052909.4:c.1024G>A, NM_052909.3:c.-45G>A, NP_443141.4:p.Asp342Asn

Select item 14838377267.

rs1483837726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:163085 (GRCh38)
5:163200 (GRCh37)
Canonical SPDI:: NC_000005.10:163084:C:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.163085C>A, NC_000005.9:g.163200C>A, NG_054915.1:g.114071C>A, NM_052909.5:c.3013C>A, NM_052909.4:c.3013C>A, NM_052909.3:c.1945C>A, NP_443141.4:p.Pro1005Thr

Select item 14837111568.

rs1483711156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:143154 (GRCh38)
5:143269 (GRCh37)
Canonical SPDI:: NC_000005.10:143153:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.143154G>A, NC_000005.9:g.143269G>A, NG_054915.1:g.94140G>A, NM_052909.5:c.1585G>A, NM_052909.4:c.1585G>A, NM_052909.3:c.517G>A, NP_443141.4:p.Glu529Lys

Select item 14833512039.

rs1483351203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:163038 (GRCh38)
5:163153 (GRCh37)
Canonical SPDI:: NC_000005.10:163037:A:C
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.163038A>C, NC_000005.9:g.163153A>C, NG_054915.1:g.114024A>C, NM_052909.5:c.2966A>C, NM_052909.4:c.2966A>C, NM_052909.3:c.1898A>C, NP_443141.4:p.Lys989Thr

Select item 148316147810.

rs1483161478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:162988 (GRCh38)
5:163103 (GRCh37)
Canonical SPDI:: NC_000005.10:162987:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.162988G>A, NC_000005.9:g.163103G>A, NG_054915.1:g.113974G>A, NM_052909.5:c.2916G>A, NM_052909.4:c.2916G>A, NM_052909.3:c.1848G>A

Select item 148270751711.

rs1482707517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:163458 (GRCh38)
5:163573 (GRCh37)
Canonical SPDI:: NC_000005.10:163457:C:T
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163458C>T, NC_000005.9:g.163573C>T, NG_054915.1:g.114444C>T, NM_052909.5:c.3386C>T, NM_052909.4:c.3386C>T, NM_052909.3:c.2318C>T, NP_443141.4:p.Ala1129Val

Select item 148248015312.

rs1482480153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:182053 (GRCh38)
5:182168 (GRCh37)
Canonical SPDI:: NC_000005.10:182052:C:G,NC_000005.10:182052:C:T
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.182053C>G, NC_000005.10:g.182053C>T, NC_000005.9:g.182168C>G, NC_000005.9:g.182168C>T, NG_054915.1:g.133039C>G, NG_054915.1:g.133039C>T, NM_052909.5:c.4614C>G, NM_052909.5:c.4614C>T, NM_052909.4:c.4614C>G, NM_052909.4:c.4614C>T, NM_052909.3:c.3546C>G, NM_052909.3:c.3546C>T

Select item 148185120513.

rs1481851205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:156136 (GRCh38)
5:156251 (GRCh37)
Canonical SPDI:: NC_000005.10:156135:T:C,NC_000005.10:156135:T:G
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.156136T>C, NC_000005.10:g.156136T>G, NC_000005.9:g.156251T>C, NC_000005.9:g.156251T>G, NG_054915.1:g.107122T>C, NG_054915.1:g.107122T>G, NM_052909.5:c.2274T>C, NM_052909.5:c.2274T>G, NM_052909.4:c.2274T>C, NM_052909.4:c.2274T>G, NM_052909.3:c.1206T>C, NM_052909.3:c.1206T>G

Select item 148131457814.

rs1481314578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139706 (GRCh38)
5:139821 (GRCh37)
Canonical SPDI:: NC_000005.10:139705:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.139706G>A, NC_000005.9:g.139821G>A, NG_054915.1:g.90692G>A, NM_052909.5:c.467G>A, NM_052909.4:c.467G>A, NP_443141.4:p.Gly156Asp

Select item 147959883815.

rs1479598838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162877 (GRCh38)
5:162992 (GRCh37)
Canonical SPDI:: NC_000005.10:162876:A:G
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.162877A>G, NC_000005.9:g.162992A>G, NG_054915.1:g.113863A>G, NM_052909.5:c.2805A>G, NM_052909.4:c.2805A>G, NM_052909.3:c.1737A>G

Select item 147949032016.

rs1479490320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:172939 (GRCh38)
5:173054 (GRCh37)
Canonical SPDI:: NC_000005.10:172938:T:C
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.172939T>C, NC_000005.9:g.173054T>C, NG_054915.1:g.123925T>C, NM_052909.5:c.4093T>C, NM_052909.4:c.4093T>C, NM_052909.3:c.3025T>C, NP_443141.4:p.Phe1365Leu

Select item 147940825917.

rs1479408259 [Homo sapiens]

Variant type:: DEL
Alleles:: AGACC>- [Show Flanks]
Chromosome:: 5:156124 (GRCh38)
5:156239 (GRCh37)
Canonical SPDI:: NC_000005.10:156123:AGACC:
Gene:: PLEKHG4B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.156124_156128del, NC_000005.9:g.156239_156243del, NG_054915.1:g.107110_107114del, NM_052909.5:c.2262_2266del, NM_052909.4:c.2262_2266del, NM_052909.3:c.1194_1198del, NP_443141.4:p.Glu754fs

Select item 147925217518.

rs1479252175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:156140 (GRCh38)
5:156255 (GRCh37)
Canonical SPDI:: NC_000005.10:156139:T:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.156140T>A, NC_000005.9:g.156255T>A, NG_054915.1:g.107126T>A, NM_052909.5:c.2278T>A, NM_052909.4:c.2278T>A, NM_052909.3:c.1210T>A, NP_443141.4:p.Ser760Thr

Select item 147897593419.

rs1478975934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139570 (GRCh38)
5:139685 (GRCh37)
Canonical SPDI:: NC_000005.10:139569:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000064/9 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.139570G>A, NC_000005.9:g.139685G>A, NG_054915.1:g.90556G>A, NM_052909.5:c.331G>A, NM_052909.4:c.331G>A, NP_443141.4:p.Gly111Arg

Select item 147879027320.

rs1478790273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140169 (GRCh38)
5:140284 (GRCh37)
Canonical SPDI:: NC_000005.10:140168:G:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.140169G>A, NC_000005.9:g.140284G>A, NG_054915.1:g.91155G>A, NM_052909.5:c.930G>A, NM_052909.4:c.930G>A

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