SNP Links for Protein (Select 1048561693) - SNP

Links from Protein

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Select item 14907337621.

rs1490733762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:150733936 (GRCh38)
6:151055072 (GRCh37)
Canonical SPDI:: NC_000006.12:150733935:G:A,NC_000006.12:150733935:G:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.150733936G>A, NC_000006.12:g.150733936G>T, NC_000006.11:g.151055072G>A, NC_000006.11:g.151055072G>T, NG_051299.1:g.139074G>A, NG_051299.1:g.139074G>T, NM_001029884.3:c.255G>A, NM_001029884.3:c.255G>T, NM_001029884.2:c.255G>A, NM_001029884.2:c.255G>T, NM_001029884.1:c.255G>A, NM_001029884.1:c.255G>T, NM_001329800.2:c.255G>A, NM_001329800.2:c.255G>T, NM_001329800.1:c.255G>A, NM_001329800.1:c.255G>T, NM_001329798.2:c.432G>A, NM_001329798.2:c.432G>T, NM_001329798.1:c.432G>A, NM_001329798.1:c.432G>T, NM_001329799.2:c.375G>A, NM_001329799.2:c.375G>T, NM_001329799.1:c.375G>A, NM_001329799.1:c.375G>T, NM_001329801.2:c.255G>A, NM_001329801.2:c.255G>T, NM_001329801.1:c.255G>A, NM_001329801.1:c.255G>T, NM_001329802.2:c.255G>A, NM_001329802.2:c.255G>T, NM_001329802.1:c.255G>A, NM_001329802.1:c.255G>T, NM_001329803.2:c.255G>A, NM_001329803.2:c.255G>T, NM_001329803.1:c.255G>A, NM_001329803.1:c.255G>T, NM_001329804.2:c.255G>A, NM_001329804.2:c.255G>T, NM_001329804.1:c.255G>A, NM_001329804.1:c.255G>T, NM_001329805.2:c.255G>A, NM_001329805.2:c.255G>T, NM_001329805.1:c.255G>A, NM_001329805.1:c.255G>T, NM_001329806.2:c.255G>A, NM_001329806.2:c.255G>T, NM_001329806.1:c.255G>A, NM_001329806.1:c.255G>T, NP_001025055.1:p.Arg85Ser, NP_001316729.1:p.Arg85Ser, NP_001316727.1:p.Arg144Ser, NP_001316728.1:p.Arg125Ser, NP_001316730.1:p.Arg85Ser, NP_001316731.1:p.Arg85Ser, NP_001316732.1:p.Arg85Ser, NP_001316733.1:p.Arg85Ser, NP_001316734.1:p.Arg85Ser, NP_001316735.1:p.Arg85Ser

Select item 14905709002.

rs1490570900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:150768705 (GRCh38)
6:151089841 (GRCh37)
Canonical SPDI:: NC_000006.12:150768704:T:C
Gene:: PLEKHG1 (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 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.150768705T>C, NC_000006.11:g.151089841T>C, NG_051299.1:g.173843T>C, NM_001029884.3:c.479T>C, NM_001029884.2:c.479T>C, NM_001029884.1:c.479T>C, NM_001329800.2:c.479T>C, NM_001329800.1:c.479T>C, NM_001329798.2:c.656T>C, NM_001329798.1:c.656T>C, NM_001329799.2:c.599T>C, NM_001329799.1:c.599T>C, NM_001329801.2:c.479T>C, NM_001329801.1:c.479T>C, NM_001329802.2:c.479T>C, NM_001329802.1:c.479T>C, NM_001329803.2:c.479T>C, NM_001329803.1:c.479T>C, NM_001329804.2:c.479T>C, NM_001329804.1:c.479T>C, NM_001329805.2:c.479T>C, NM_001329805.1:c.479T>C, NM_001329806.2:c.479T>C, NM_001329806.1:c.479T>C, NP_001025055.1:p.Phe160Ser, NP_001316729.1:p.Phe160Ser, NP_001316727.1:p.Phe219Ser, NP_001316728.1:p.Phe200Ser, NP_001316730.1:p.Phe160Ser, NP_001316731.1:p.Phe160Ser, NP_001316732.1:p.Phe160Ser, NP_001316733.1:p.Phe160Ser, NP_001316734.1:p.Phe160Ser, NP_001316735.1:p.Phe160Ser

Select item 14901045753.

rs1490104575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:150804680 (GRCh38)
6:151125816 (GRCh37)
Canonical SPDI:: NC_000006.12:150804679:A:G
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.150804680A>G, NC_000006.11:g.151125816A>G, NG_051299.1:g.209818A>G, NM_001029884.3:c.851A>G, NM_001029884.2:c.851A>G, NM_001029884.1:c.851A>G, NM_001329800.2:c.851A>G, NM_001329800.1:c.851A>G, NM_001329798.2:c.1028A>G, NM_001329798.1:c.1028A>G, NM_001329799.2:c.971A>G, NM_001329799.1:c.971A>G, NM_001329801.2:c.851A>G, NM_001329801.1:c.851A>G, NM_001329802.2:c.851A>G, NM_001329802.1:c.851A>G, NM_001329803.2:c.734A>G, NM_001329803.1:c.734A>G, NM_001329804.2:c.851A>G, NM_001329804.1:c.851A>G, NM_001329805.2:c.851A>G, NM_001329805.1:c.851A>G, NM_001329806.2:c.851A>G, NM_001329806.1:c.851A>G, NP_001025055.1:p.Gln284Arg, NP_001316729.1:p.Gln284Arg, NP_001316727.1:p.Gln343Arg, NP_001316728.1:p.Gln324Arg, NP_001316730.1:p.Gln284Arg, NP_001316731.1:p.Gln284Arg, NP_001316732.1:p.Gln245Arg, NP_001316733.1:p.Gln284Arg, NP_001316734.1:p.Gln284Arg, NP_001316735.1:p.Gln284Arg

Select item 14900183304.

rs1490018330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:150840316 (GRCh38)
6:151161452 (GRCh37)
Canonical SPDI:: NC_000006.12:150840315:T:C
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150840316T>C, NC_000006.11:g.151161452T>C, NG_051299.1:g.245454T>C, NM_001029884.3:c.3578T>C, NM_001029884.2:c.3578T>C, NM_001029884.1:c.3578T>C, NM_001329800.2:c.3578T>C, NM_001329800.1:c.3578T>C, NM_001329798.2:c.3755T>C, NM_001329798.1:c.3755T>C, NM_001329799.2:c.3698T>C, NM_001329799.1:c.3698T>C, NM_001329801.2:c.3578T>C, NM_001329801.1:c.3578T>C, NM_001329802.2:c.3539T>C, NM_001329802.1:c.3539T>C, NM_001329803.2:c.3461T>C, NM_001329803.1:c.3461T>C, NP_001025055.1:p.Met1193Thr, NP_001316729.1:p.Met1193Thr, NP_001316727.1:p.Met1252Thr, NP_001316728.1:p.Met1233Thr, NP_001316730.1:p.Met1193Thr, NP_001316731.1:p.Met1180Thr, NP_001316732.1:p.Met1154Thr

Select item 14894783875.

rs1489478387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:150839982 (GRCh38)
6:151161118 (GRCh37)
Canonical SPDI:: NC_000006.12:150839981:G:A,NC_000006.12:150839981:G:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150839982G>A, NC_000006.12:g.150839982G>T, NC_000006.11:g.151161118G>A, NC_000006.11:g.151161118G>T, NG_051299.1:g.245120G>A, NG_051299.1:g.245120G>T, NM_001029884.3:c.3244G>A, NM_001029884.3:c.3244G>T, NM_001029884.2:c.3244G>A, NM_001029884.2:c.3244G>T, NM_001029884.1:c.3244G>A, NM_001029884.1:c.3244G>T, NM_001329800.2:c.3244G>A, NM_001329800.2:c.3244G>T, NM_001329800.1:c.3244G>A, NM_001329800.1:c.3244G>T, NM_001329798.2:c.3421G>A, NM_001329798.2:c.3421G>T, NM_001329798.1:c.3421G>A, NM_001329798.1:c.3421G>T, NM_001329799.2:c.3364G>A, NM_001329799.2:c.3364G>T, NM_001329799.1:c.3364G>A, NM_001329799.1:c.3364G>T, NM_001329801.2:c.3244G>A, NM_001329801.2:c.3244G>T, NM_001329801.1:c.3244G>A, NM_001329801.1:c.3244G>T, NM_001329802.2:c.3205G>A, NM_001329802.2:c.3205G>T, NM_001329802.1:c.3205G>A, NM_001329802.1:c.3205G>T, NM_001329803.2:c.3127G>A, NM_001329803.2:c.3127G>T, NM_001329803.1:c.3127G>A, NM_001329803.1:c.3127G>T, NP_001025055.1:p.Asp1082Asn, NP_001025055.1:p.Asp1082Tyr, NP_001316729.1:p.Asp1082Asn, NP_001316729.1:p.Asp1082Tyr, NP_001316727.1:p.Asp1141Asn, NP_001316727.1:p.Asp1141Tyr, NP_001316728.1:p.Asp1122Asn, NP_001316728.1:p.Asp1122Tyr, NP_001316730.1:p.Asp1082Asn, NP_001316730.1:p.Asp1082Tyr, NP_001316731.1:p.Asp1069Asn, NP_001316731.1:p.Asp1069Tyr, NP_001316732.1:p.Asp1043Asn, NP_001316732.1:p.Asp1043Tyr

Select item 14884287736.

rs1488428773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:150831493 (GRCh38)
6:151152629 (GRCh37)
Canonical SPDI:: NC_000006.12:150831492:G:C
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.150831493G>C, NC_000006.11:g.151152629G>C, NG_051299.1:g.236631G>C, NM_001029884.3:c.2382G>C, NM_001029884.2:c.2382G>C, NM_001029884.1:c.2382G>C, NM_001329800.2:c.2382G>C, NM_001329800.1:c.2382G>C, NM_001329798.2:c.2559G>C, NM_001329798.1:c.2559G>C, NM_001329799.2:c.2502G>C, NM_001329799.1:c.2502G>C, NM_001329801.2:c.2382G>C, NM_001329801.1:c.2382G>C, NM_001329802.2:c.2343G>C, NM_001329802.1:c.2343G>C, NM_001329803.2:c.2265G>C, NM_001329803.1:c.2265G>C, NP_001025055.1:p.Glu794Asp, NP_001316729.1:p.Glu794Asp, NP_001316727.1:p.Glu853Asp, NP_001316728.1:p.Glu834Asp, NP_001316730.1:p.Glu794Asp, NP_001316731.1:p.Glu781Asp, NP_001316732.1:p.Glu755Asp

Select item 14880092987.

rs1488009298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:150831869 (GRCh38)
6:151153005 (GRCh37)
Canonical SPDI:: NC_000006.12:150831868:G:C
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150831869G>C, NC_000006.11:g.151153005G>C, NG_051299.1:g.237007G>C, NM_001029884.3:c.2758G>C, NM_001029884.2:c.2758G>C, NM_001029884.1:c.2758G>C, NM_001329800.2:c.2758G>C, NM_001329800.1:c.2758G>C, NM_001329798.2:c.2935G>C, NM_001329798.1:c.2935G>C, NM_001329799.2:c.2878G>C, NM_001329799.1:c.2878G>C, NM_001329801.2:c.2758G>C, NM_001329801.1:c.2758G>C, NM_001329802.2:c.2719G>C, NM_001329802.1:c.2719G>C, NM_001329803.2:c.2641G>C, NM_001329803.1:c.2641G>C, NP_001025055.1:p.Asp920His, NP_001316729.1:p.Asp920His, NP_001316727.1:p.Asp979His, NP_001316728.1:p.Asp960His, NP_001316730.1:p.Asp920His, NP_001316731.1:p.Asp907His, NP_001316732.1:p.Asp881His

Select item 14873077228.

rs1487307722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:150831813 (GRCh38)
6:151152949 (GRCh37)
Canonical SPDI:: NC_000006.12:150831812:C:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.150831813C>T, NC_000006.11:g.151152949C>T, NG_051299.1:g.236951C>T, NM_001029884.3:c.2702C>T, NM_001029884.2:c.2702C>T, NM_001029884.1:c.2702C>T, NM_001329800.2:c.2702C>T, NM_001329800.1:c.2702C>T, NM_001329798.2:c.2879C>T, NM_001329798.1:c.2879C>T, NM_001329799.2:c.2822C>T, NM_001329799.1:c.2822C>T, NM_001329801.2:c.2702C>T, NM_001329801.1:c.2702C>T, NM_001329802.2:c.2663C>T, NM_001329802.1:c.2663C>T, NM_001329803.2:c.2585C>T, NM_001329803.1:c.2585C>T, NP_001025055.1:p.Thr901Met, NP_001316729.1:p.Thr901Met, NP_001316727.1:p.Thr960Met, NP_001316728.1:p.Thr941Met, NP_001316730.1:p.Thr901Met, NP_001316731.1:p.Thr888Met, NP_001316732.1:p.Thr862Met

Select item 14870266189.

rs1487026618 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:150800825 (GRCh38)
6:151121961 (GRCh37)
Canonical SPDI:: NC_000006.12:150800824:TT:
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.150800825_150800826del, NC_000006.11:g.151121961_151121962del, NG_051299.1:g.205963_205964del, NM_001029884.3:c.736_737del, NM_001029884.2:c.736_737del, NM_001029884.1:c.736_737del, NM_001329800.2:c.736_737del, NM_001329800.1:c.736_737del, NM_001329798.2:c.913_914del, NM_001329798.1:c.913_914del, NM_001329799.2:c.856_857del, NM_001329799.1:c.856_857del, NM_001329801.2:c.736_737del, NM_001329801.1:c.736_737del, NM_001329802.2:c.736_737del, NM_001329802.1:c.736_737del, NM_001329803.2:c.619_620del, NM_001329803.1:c.619_620del, NM_001329804.2:c.736_737del, NM_001329804.1:c.736_737del, NM_001329805.2:c.736_737del, NM_001329805.1:c.736_737del, NM_001329806.2:c.736_737del, NM_001329806.1:c.736_737del, NP_001025055.1:p.Leu246fs, NP_001316729.1:p.Leu246fs, NP_001316727.1:p.Leu305fs, NP_001316728.1:p.Leu286fs, NP_001316730.1:p.Leu246fs, NP_001316731.1:p.Leu246fs, NP_001316732.1:p.Leu207fs, NP_001316733.1:p.Leu246fs, NP_001316734.1:p.Leu246fs, NP_001316735.1:p.Leu246fs

Select item 148620793510.

rs1486207935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:150831800 (GRCh38)
6:151152936 (GRCh37)
Canonical SPDI:: NC_000006.12:150831799:C:G
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.150831800C>G, NC_000006.11:g.151152936C>G, NG_051299.1:g.236938C>G, NM_001029884.3:c.2689C>G, NM_001029884.2:c.2689C>G, NM_001029884.1:c.2689C>G, NM_001329800.2:c.2689C>G, NM_001329800.1:c.2689C>G, NM_001329798.2:c.2866C>G, NM_001329798.1:c.2866C>G, NM_001329799.2:c.2809C>G, NM_001329799.1:c.2809C>G, NM_001329801.2:c.2689C>G, NM_001329801.1:c.2689C>G, NM_001329802.2:c.2650C>G, NM_001329802.1:c.2650C>G, NM_001329803.2:c.2572C>G, NM_001329803.1:c.2572C>G, NP_001025055.1:p.Gln897Glu, NP_001316729.1:p.Gln897Glu, NP_001316727.1:p.Gln956Glu, NP_001316728.1:p.Gln937Glu, NP_001316730.1:p.Gln897Glu, NP_001316731.1:p.Gln884Glu, NP_001316732.1:p.Gln858Glu

Select item 148515367711.

rs1485153677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:150809131 (GRCh38)
6:151130267 (GRCh37)
Canonical SPDI:: NC_000006.12:150809130:G:C
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150809131G>C, NC_000006.11:g.151130267G>C, NG_051299.1:g.214269G>C, NM_001029884.3:c.939G>C, NM_001029884.2:c.939G>C, NM_001029884.1:c.939G>C, NM_001329800.2:c.939G>C, NM_001329800.1:c.939G>C, NM_001329798.2:c.1116G>C, NM_001329798.1:c.1116G>C, NM_001329799.2:c.1059G>C, NM_001329799.1:c.1059G>C, NM_001329801.2:c.939G>C, NM_001329801.1:c.939G>C, NM_001329802.2:c.939G>C, NM_001329802.1:c.939G>C, NM_001329803.2:c.822G>C, NM_001329803.1:c.822G>C, NM_001329804.2:c.939G>C, NM_001329804.1:c.939G>C, NM_001329805.2:c.939G>C, NM_001329805.1:c.939G>C, NM_001329806.2:c.939G>C, NM_001329806.1:c.939G>C, NP_001025055.1:p.Trp313Cys, NP_001316729.1:p.Trp313Cys, NP_001316727.1:p.Trp372Cys, NP_001316728.1:p.Trp353Cys, NP_001316730.1:p.Trp313Cys, NP_001316731.1:p.Trp313Cys, NP_001316732.1:p.Trp274Cys, NP_001316733.1:p.Trp313Cys, NP_001316734.1:p.Trp313Cys, NP_001316735.1:p.Trp313Cys

Select item 148506893412.

rs1485068934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:150831192 (GRCh38)
6:151152328 (GRCh37)
Canonical SPDI:: NC_000006.12:150831191:A:G
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.150831192A>G, NC_000006.11:g.151152328A>G, NG_051299.1:g.236330A>G, NM_001029884.3:c.2081A>G, NM_001029884.2:c.2081A>G, NM_001029884.1:c.2081A>G, NM_001329800.2:c.2081A>G, NM_001329800.1:c.2081A>G, NM_001329798.2:c.2258A>G, NM_001329798.1:c.2258A>G, NM_001329799.2:c.2201A>G, NM_001329799.1:c.2201A>G, NM_001329801.2:c.2081A>G, NM_001329801.1:c.2081A>G, NM_001329802.2:c.2042A>G, NM_001329802.1:c.2042A>G, NM_001329803.2:c.1964A>G, NM_001329803.1:c.1964A>G, NP_001025055.1:p.Lys694Arg, NP_001316729.1:p.Lys694Arg, NP_001316727.1:p.Lys753Arg, NP_001316728.1:p.Lys734Arg, NP_001316730.1:p.Lys694Arg, NP_001316731.1:p.Lys681Arg, NP_001316732.1:p.Lys655Arg

Select item 148478662913.

rs1484786629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:150840823 (GRCh38)
6:151161959 (GRCh37)
Canonical SPDI:: NC_000006.12:150840822:C:A
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150840823C>A, NC_000006.11:g.151161959C>A, NG_051299.1:g.245961C>A, NM_001029884.3:c.4085C>A, NM_001029884.2:c.4085C>A, NM_001029884.1:c.4085C>A, NM_001329800.2:c.4085C>A, NM_001329800.1:c.4085C>A, NM_001329798.2:c.4262C>A, NM_001329798.1:c.4262C>A, NM_001329799.2:c.4205C>A, NM_001329799.1:c.4205C>A, NM_001329801.2:c.4085C>A, NM_001329801.1:c.4085C>A, NM_001329802.2:c.4046C>A, NM_001329802.1:c.4046C>A, NM_001329803.2:c.3968C>A, NM_001329803.1:c.3968C>A, NP_001025055.1:p.Ser1362Tyr, NP_001316729.1:p.Ser1362Tyr, NP_001316727.1:p.Ser1421Tyr, NP_001316728.1:p.Ser1402Tyr, NP_001316730.1:p.Ser1362Tyr, NP_001316731.1:p.Ser1349Tyr, NP_001316732.1:p.Ser1323Tyr

Select item 147899654714.

rs1478996547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:150832080 (GRCh38)
6:151153216 (GRCh37)
Canonical SPDI:: NC_000006.12:150832079:C:A,NC_000006.12:150832079:C:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.150832080C>A, NC_000006.12:g.150832080C>T, NC_000006.11:g.151153216C>A, NC_000006.11:g.151153216C>T, NG_051299.1:g.237218C>A, NG_051299.1:g.237218C>T, NM_001029884.3:c.2969C>A, NM_001029884.3:c.2969C>T, NM_001029884.2:c.2969C>A, NM_001029884.2:c.2969C>T, NM_001029884.1:c.2969C>A, NM_001029884.1:c.2969C>T, NM_001329800.2:c.2969C>A, NM_001329800.2:c.2969C>T, NM_001329800.1:c.2969C>A, NM_001329800.1:c.2969C>T, NM_001329798.2:c.3146C>A, NM_001329798.2:c.3146C>T, NM_001329798.1:c.3146C>A, NM_001329798.1:c.3146C>T, NM_001329799.2:c.3089C>A, NM_001329799.2:c.3089C>T, NM_001329799.1:c.3089C>A, NM_001329799.1:c.3089C>T, NM_001329801.2:c.2969C>A, NM_001329801.2:c.2969C>T, NM_001329801.1:c.2969C>A, NM_001329801.1:c.2969C>T, NM_001329802.2:c.2930C>A, NM_001329802.2:c.2930C>T, NM_001329802.1:c.2930C>A, NM_001329802.1:c.2930C>T, NM_001329803.2:c.2852C>A, NM_001329803.2:c.2852C>T, NM_001329803.1:c.2852C>A, NM_001329803.1:c.2852C>T, NP_001025055.1:p.Ala990Glu, NP_001025055.1:p.Ala990Val, NP_001316729.1:p.Ala990Glu, NP_001316729.1:p.Ala990Val, NP_001316727.1:p.Ala1049Glu, NP_001316727.1:p.Ala1049Val, NP_001316728.1:p.Ala1030Glu, NP_001316728.1:p.Ala1030Val, NP_001316730.1:p.Ala990Glu, NP_001316730.1:p.Ala990Val, NP_001316731.1:p.Ala977Glu, NP_001316731.1:p.Ala977Val, NP_001316732.1:p.Ala951Glu, NP_001316732.1:p.Ala951Val

Select item 147821765715.

rs1478217657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:150840616 (GRCh38)
6:151161752 (GRCh37)
Canonical SPDI:: NC_000006.12:150840615:A:G
Gene:: PLEKHG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.150840616A>G, NC_000006.11:g.151161752A>G, NG_051299.1:g.245754A>G, NM_001029884.3:c.3878A>G, NM_001029884.2:c.3878A>G, NM_001029884.1:c.3878A>G, NM_001329800.2:c.3878A>G, NM_001329800.1:c.3878A>G, NM_001329798.2:c.4055A>G, NM_001329798.1:c.4055A>G, NM_001329799.2:c.3998A>G, NM_001329799.1:c.3998A>G, NM_001329801.2:c.3878A>G, NM_001329801.1:c.3878A>G, NM_001329802.2:c.3839A>G, NM_001329802.1:c.3839A>G, NM_001329803.2:c.3761A>G, NM_001329803.1:c.3761A>G, NP_001025055.1:p.Glu1293Gly, NP_001316729.1:p.Glu1293Gly, NP_001316727.1:p.Glu1352Gly, NP_001316728.1:p.Glu1333Gly, NP_001316730.1:p.Glu1293Gly, NP_001316731.1:p.Glu1280Gly, NP_001316732.1:p.Glu1254Gly

Select item 147805144916.

rs1478051449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:150831588 (GRCh38)
6:151152724 (GRCh37)
Canonical SPDI:: NC_000006.12:150831587:C:G
Gene:: PLEKHG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.150831588C>G, NC_000006.11:g.151152724C>G, NG_051299.1:g.236726C>G, NM_001029884.3:c.2477C>G, NM_001029884.2:c.2477C>G, NM_001029884.1:c.2477C>G, NM_001329800.2:c.2477C>G, NM_001329800.1:c.2477C>G, NM_001329798.2:c.2654C>G, NM_001329798.1:c.2654C>G, NM_001329799.2:c.2597C>G, NM_001329799.1:c.2597C>G, NM_001329801.2:c.2477C>G, NM_001329801.1:c.2477C>G, NM_001329802.2:c.2438C>G, NM_001329802.1:c.2438C>G, NM_001329803.2:c.2360C>G, NM_001329803.1:c.2360C>G, NP_001025055.1:p.Pro826Arg, NP_001316729.1:p.Pro826Arg, NP_001316727.1:p.Pro885Arg, NP_001316728.1:p.Pro866Arg, NP_001316730.1:p.Pro826Arg, NP_001316731.1:p.Pro813Arg, NP_001316732.1:p.Pro787Arg

Select item 147675658617.

rs1476756586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:150832060 (GRCh38)
6:151153196 (GRCh37)
Canonical SPDI:: NC_000006.12:150832059:C:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150832060C>T, NC_000006.11:g.151153196C>T, NG_051299.1:g.237198C>T, NM_001029884.3:c.2949C>T, NM_001029884.2:c.2949C>T, NM_001029884.1:c.2949C>T, NM_001329800.2:c.2949C>T, NM_001329800.1:c.2949C>T, NM_001329798.2:c.3126C>T, NM_001329798.1:c.3126C>T, NM_001329799.2:c.3069C>T, NM_001329799.1:c.3069C>T, NM_001329801.2:c.2949C>T, NM_001329801.1:c.2949C>T, NM_001329802.2:c.2910C>T, NM_001329802.1:c.2910C>T, NM_001329803.2:c.2832C>T, NM_001329803.1:c.2832C>T

Select item 147672991718.

rs1476729917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:150831363 (GRCh38)
6:151152499 (GRCh37)
Canonical SPDI:: NC_000006.12:150831362:C:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.150831363C>T, NC_000006.11:g.151152499C>T, NG_051299.1:g.236501C>T, NM_001029884.3:c.2252C>T, NM_001029884.2:c.2252C>T, NM_001029884.1:c.2252C>T, NM_001329800.2:c.2252C>T, NM_001329800.1:c.2252C>T, NM_001329798.2:c.2429C>T, NM_001329798.1:c.2429C>T, NM_001329799.2:c.2372C>T, NM_001329799.1:c.2372C>T, NM_001329801.2:c.2252C>T, NM_001329801.1:c.2252C>T, NM_001329802.2:c.2213C>T, NM_001329802.1:c.2213C>T, NM_001329803.2:c.2135C>T, NM_001329803.1:c.2135C>T, NP_001025055.1:p.Pro751Leu, NP_001316729.1:p.Pro751Leu, NP_001316727.1:p.Pro810Leu, NP_001316728.1:p.Pro791Leu, NP_001316730.1:p.Pro751Leu, NP_001316731.1:p.Pro738Leu, NP_001316732.1:p.Pro712Leu

Select item 147635580319.

rs1476355803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:150768730 (GRCh38)
6:151089866 (GRCh37)
Canonical SPDI:: NC_000006.12:150768729:C:T
Gene:: PLEKHG1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150768730C>T, NC_000006.11:g.151089866C>T, NG_051299.1:g.173868C>T, NM_001029884.3:c.504C>T, NM_001029884.2:c.504C>T, NM_001029884.1:c.504C>T, NM_001329800.2:c.504C>T, NM_001329800.1:c.504C>T, NM_001329798.2:c.681C>T, NM_001329798.1:c.681C>T, NM_001329799.2:c.624C>T, NM_001329799.1:c.624C>T, NM_001329801.2:c.504C>T, NM_001329801.1:c.504C>T, NM_001329802.2:c.504C>T, NM_001329802.1:c.504C>T, NM_001329803.2:c.504C>T, NM_001329803.1:c.504C>T, NM_001329804.2:c.504C>T, NM_001329804.1:c.504C>T, NM_001329805.2:c.504C>T, NM_001329805.1:c.504C>T, NM_001329806.2:c.504C>T, NM_001329806.1:c.504C>T

Select item 147584284020.

rs1475842840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:150831491 (GRCh38)
6:151152627 (GRCh37)
Canonical SPDI:: NC_000006.12:150831490:G:A
Gene:: PLEKHG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.150831491G>A, NC_000006.11:g.151152627G>A, NG_051299.1:g.236629G>A, NM_001029884.3:c.2380G>A, NM_001029884.2:c.2380G>A, NM_001029884.1:c.2380G>A, NM_001329800.2:c.2380G>A, NM_001329800.1:c.2380G>A, NM_001329798.2:c.2557G>A, NM_001329798.1:c.2557G>A, NM_001329799.2:c.2500G>A, NM_001329799.1:c.2500G>A, NM_001329801.2:c.2380G>A, NM_001329801.1:c.2380G>A, NM_001329802.2:c.2341G>A, NM_001329802.1:c.2341G>A, NM_001329803.2:c.2263G>A, NM_001329803.1:c.2263G>A, NP_001025055.1:p.Glu794Lys, NP_001316729.1:p.Glu794Lys, NP_001316727.1:p.Glu853Lys, NP_001316728.1:p.Glu834Lys, NP_001316730.1:p.Glu794Lys, NP_001316731.1:p.Glu781Lys, NP_001316732.1:p.Glu755Lys

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