SNP Links for Protein (Select 571330760) - SNP

Links from Protein

Items: 1 to 20 of 318

<< First< Prev

Page of 16

Next >Last >>

Select item 14900200361.

rs1490020036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143693858 (GRCh38)
8:144776028 (GRCh37)
Canonical SPDI:: NC_000008.11:143693857:C:G
Gene:: ZNF707 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.143693858C>G, NC_000008.10:g.144776028C>G, NT_187571.1:g.170905C>G, NW_003315923.1:g.32503C>G, NM_173831.4:c.444C>G, NM_173831.3:c.444C>G, NM_001288805.2:c.444C>G, NM_001288805.1:c.444C>G, NR_110193.2:n.691C>G, NR_110193.1:n.718C>G, NR_110191.2:n.691C>G, NR_110191.1:n.718C>G, NM_001288809.2:c.336C>G, NM_001288809.1:c.336C>G, NM_001288806.2:c.444C>G, NM_001288806.1:c.444C>G, NM_001100598.2:c.444C>G, NM_001100598.1:c.444C>G, NM_001288807.2:c.225C>G, NM_001288807.1:c.225C>G, NR_110192.2:n.596C>G, NR_110192.1:n.623C>G, NR_110190.2:n.593C>G, NR_110190.1:n.620C>G, NM_001100599.2:c.444C>G, NM_001100599.1:c.444C>G, NM_001288808.2:c.336C>G, NM_001288808.1:c.336C>G, NP_776192.2:p.Phe148Leu, NP_001275734.1:p.Phe148Leu, NP_001275738.1:p.Phe112Leu, NP_001275735.1:p.Phe148Leu, NP_001094068.1:p.Phe148Leu, NP_001275736.1:p.Phe75Leu, NP_001094069.1:p.Phe148Leu, NP_001275737.1:p.Phe112Leu

Select item 14793904972.

rs1479390497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143694314 (GRCh38)
8:144776484 (GRCh37)
Canonical SPDI:: NC_000008.11:143694313:G:C
Gene:: ZNF707 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143694314G>C, NC_000008.10:g.144776484G>C, NT_187571.1:g.171361G>C, NW_003315923.1:g.32959G>C, NM_173831.4:c.900G>C, NM_173831.3:c.900G>C, NM_001288805.2:c.900G>C, NM_001288805.1:c.900G>C, NR_110193.2:n.1147G>C, NR_110193.1:n.1174G>C, NR_110191.2:n.1147G>C, NR_110191.1:n.1174G>C, NM_001288809.2:c.792G>C, NM_001288809.1:c.792G>C, NM_001288806.2:c.900G>C, NM_001288806.1:c.900G>C, NM_001100598.2:c.900G>C, NM_001100598.1:c.900G>C, NM_001288807.2:c.681G>C, NM_001288807.1:c.681G>C, NR_110192.2:n.1052G>C, NR_110192.1:n.1079G>C, NR_110190.2:n.1049G>C, NR_110190.1:n.1076G>C, NM_001100599.2:c.900G>C, NM_001100599.1:c.900G>C, NM_001288808.2:c.792G>C, NM_001288808.1:c.792G>C, NP_776192.2:p.Lys300Asn, NP_001275734.1:p.Lys300Asn, NP_001275738.1:p.Lys264Asn, NP_001275735.1:p.Lys300Asn, NP_001094068.1:p.Lys300Asn, NP_001275736.1:p.Lys227Asn, NP_001094069.1:p.Lys300Asn, NP_001275737.1:p.Lys264Asn

Select item 14756194143.

rs1475619414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143694218 (GRCh38)
8:144776388 (GRCh37)
Canonical SPDI:: NC_000008.11:143694217:C:T
Gene:: ZNF707 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143694218C>T, NC_000008.10:g.144776388C>T, NT_187571.1:g.171265C>T, NW_003315923.1:g.32863C>T, NM_173831.4:c.804C>T, NM_173831.3:c.804C>T, NM_001288805.2:c.804C>T, NM_001288805.1:c.804C>T, NR_110193.2:n.1051C>T, NR_110193.1:n.1078C>T, NR_110191.2:n.1051C>T, NR_110191.1:n.1078C>T, NM_001288809.2:c.696C>T, NM_001288809.1:c.696C>T, NM_001288806.2:c.804C>T, NM_001288806.1:c.804C>T, NM_001100598.2:c.804C>T, NM_001100598.1:c.804C>T, NM_001288807.2:c.585C>T, NM_001288807.1:c.585C>T, NR_110192.2:n.956C>T, NR_110192.1:n.983C>T, NR_110190.2:n.953C>T, NR_110190.1:n.980C>T, NM_001100599.2:c.804C>T, NM_001100599.1:c.804C>T, NM_001288808.2:c.696C>T, NM_001288808.1:c.696C>T

Select item 14749493864.

rs1474949386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143694133 (GRCh38)
8:144776303 (GRCh37)
Canonical SPDI:: NC_000008.11:143694132:C:T
Gene:: ZNF707 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143694133C>T, NC_000008.10:g.144776303C>T, NT_187571.1:g.171180C>T, NW_003315923.1:g.32778C>T, NM_173831.4:c.719C>T, NM_173831.3:c.719C>T, NM_001288805.2:c.719C>T, NM_001288805.1:c.719C>T, NR_110193.2:n.966C>T, NR_110193.1:n.993C>T, NR_110191.2:n.966C>T, NR_110191.1:n.993C>T, NM_001288809.2:c.611C>T, NM_001288809.1:c.611C>T, NM_001288806.2:c.719C>T, NM_001288806.1:c.719C>T, NM_001100598.2:c.719C>T, NM_001100598.1:c.719C>T, NM_001288807.2:c.500C>T, NM_001288807.1:c.500C>T, NR_110192.2:n.871C>T, NR_110192.1:n.898C>T, NR_110190.2:n.868C>T, NR_110190.1:n.895C>T, NM_001100599.2:c.719C>T, NM_001100599.1:c.719C>T, NM_001288808.2:c.611C>T, NM_001288808.1:c.611C>T, NP_776192.2:p.Ala240Val, NP_001275734.1:p.Ala240Val, NP_001275738.1:p.Ala204Val, NP_001275735.1:p.Ala240Val, NP_001094068.1:p.Ala240Val, NP_001275736.1:p.Ala167Val, NP_001094069.1:p.Ala240Val, NP_001275737.1:p.Ala204Val

Select item 14705241995.

rs1470524199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143694048 (GRCh38)
8:144776218 (GRCh37)
Canonical SPDI:: NC_000008.11:143694047:A:T
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143694048A>T, NC_000008.10:g.144776218A>T, NT_187571.1:g.171095A>T, NW_003315923.1:g.32693A>T, NM_173831.4:c.634A>T, NM_173831.3:c.634A>T, NM_001288805.2:c.634A>T, NM_001288805.1:c.634A>T, NR_110193.2:n.881A>T, NR_110193.1:n.908A>T, NR_110191.2:n.881A>T, NR_110191.1:n.908A>T, NM_001288809.2:c.526A>T, NM_001288809.1:c.526A>T, NM_001288806.2:c.634A>T, NM_001288806.1:c.634A>T, NM_001100598.2:c.634A>T, NM_001100598.1:c.634A>T, NM_001288807.2:c.415A>T, NM_001288807.1:c.415A>T, NR_110192.2:n.786A>T, NR_110192.1:n.813A>T, NR_110190.2:n.783A>T, NR_110190.1:n.810A>T, NM_001100599.2:c.634A>T, NM_001100599.1:c.634A>T, NM_001288808.2:c.526A>T, NM_001288808.1:c.526A>T, NP_776192.2:p.Thr212Ser, NP_001275734.1:p.Thr212Ser, NP_001275738.1:p.Thr176Ser, NP_001275735.1:p.Thr212Ser, NP_001094068.1:p.Thr212Ser, NP_001275736.1:p.Thr139Ser, NP_001094069.1:p.Thr212Ser, NP_001275737.1:p.Thr176Ser

Select item 14632630766.

rs1463263076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143693899 (GRCh38)
8:144776069 (GRCh37)
Canonical SPDI:: NC_000008.11:143693898:G:A
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143693899G>A, NC_000008.10:g.144776069G>A, NT_187571.1:g.170946G>A, NW_003315923.1:g.32544G>A, NM_173831.4:c.485G>A, NM_173831.3:c.485G>A, NM_001288805.2:c.485G>A, NM_001288805.1:c.485G>A, NR_110193.2:n.732G>A, NR_110193.1:n.759G>A, NR_110191.2:n.732G>A, NR_110191.1:n.759G>A, NM_001288809.2:c.377G>A, NM_001288809.1:c.377G>A, NM_001288806.2:c.485G>A, NM_001288806.1:c.485G>A, NM_001100598.2:c.485G>A, NM_001100598.1:c.485G>A, NM_001288807.2:c.266G>A, NM_001288807.1:c.266G>A, NR_110192.2:n.637G>A, NR_110192.1:n.664G>A, NR_110190.2:n.634G>A, NR_110190.1:n.661G>A, NM_001100599.2:c.485G>A, NM_001100599.1:c.485G>A, NM_001288808.2:c.377G>A, NM_001288808.1:c.377G>A, NP_776192.2:p.Gly162Asp, NP_001275734.1:p.Gly162Asp, NP_001275738.1:p.Gly126Asp, NP_001275735.1:p.Gly162Asp, NP_001094068.1:p.Gly162Asp, NP_001275736.1:p.Gly89Asp, NP_001094069.1:p.Gly162Asp, NP_001275737.1:p.Gly126Asp

Select item 14628697307.

rs1462869730 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:143694058 (GRCh38)
8:144776228 (GRCh37)
Canonical SPDI:: NC_000008.11:143694057:GGG:GG
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000054/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000017/4 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.143694060del, NC_000008.10:g.144776230del, NT_187571.1:g.171107del, NW_003315923.1:g.32705del, NM_173831.4:c.646del, NM_173831.3:c.646del, NM_001288805.2:c.646del, NM_001288805.1:c.646del, NR_110193.2:n.893del, NR_110193.1:n.920del, NR_110191.2:n.893del, NR_110191.1:n.920del, NM_001288809.2:c.538del, NM_001288809.1:c.538del, NM_001288806.2:c.646del, NM_001288806.1:c.646del, NM_001100598.2:c.646del, NM_001100598.1:c.646del, NM_001288807.2:c.427del, NM_001288807.1:c.427del, NR_110192.2:n.798del, NR_110192.1:n.825del, NR_110190.2:n.795del, NR_110190.1:n.822del, NM_001100599.2:c.646del, NM_001100599.1:c.646del, NM_001288808.2:c.538del, NM_001288808.1:c.538del, NP_776192.2:p.Ala216fs, NP_001275734.1:p.Ala216fs, NP_001275738.1:p.Ala180fs, NP_001275735.1:p.Ala216fs, NP_001094068.1:p.Ala216fs, NP_001275736.1:p.Ala143fs, NP_001094069.1:p.Ala216fs, NP_001275737.1:p.Ala180fs

Select item 14615413938.

rs1461541393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143693707 (GRCh38)
8:144775877 (GRCh37)
Canonical SPDI:: NC_000008.11:143693706:A:T
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143693707A>T, NC_000008.10:g.144775877A>T, NT_187571.1:g.170754A>T, NW_003315923.1:g.32352A>T, NM_173831.4:c.293A>T, NM_173831.3:c.293A>T, NM_001288805.2:c.293A>T, NM_001288805.1:c.293A>T, NR_110193.2:n.540A>T, NR_110193.1:n.567A>T, NR_110191.2:n.540A>T, NR_110191.1:n.567A>T, NM_001288809.2:c.185A>T, NM_001288809.1:c.185A>T, NM_001288806.2:c.293A>T, NM_001288806.1:c.293A>T, NM_001100598.2:c.293A>T, NM_001100598.1:c.293A>T, NM_001288807.2:c.74A>T, NM_001288807.1:c.74A>T, NR_110192.2:n.445A>T, NR_110192.1:n.472A>T, NR_110190.2:n.442A>T, NR_110190.1:n.469A>T, NM_001100599.2:c.293A>T, NM_001100599.1:c.293A>T, NM_001288808.2:c.185A>T, NM_001288808.1:c.185A>T, NP_776192.2:p.Asp98Val, NP_001275734.1:p.Asp98Val, NP_001275738.1:p.Asp62Val, NP_001275735.1:p.Asp98Val, NP_001094068.1:p.Asp98Val, NP_001275736.1:p.Asp25Val, NP_001094069.1:p.Asp98Val, NP_001275737.1:p.Asp62Val

Select item 14475763209.

rs1447576320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:143694150 (GRCh38)
8:144776320 (GRCh37)
Canonical SPDI:: NC_000008.11:143694149:C:A,NC_000008.11:143694149:C:T
Gene:: ZNF707 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143694150C>A, NC_000008.11:g.143694150C>T, NC_000008.10:g.144776320C>A, NC_000008.10:g.144776320C>T, NT_187571.1:g.171197C>A, NT_187571.1:g.171197C>T, NW_003315923.1:g.32795C>A, NW_003315923.1:g.32795C>T, NM_173831.4:c.736C>A, NM_173831.4:c.736C>T, NM_173831.3:c.736C>A, NM_173831.3:c.736C>T, NM_001288805.2:c.736C>A, NM_001288805.2:c.736C>T, NM_001288805.1:c.736C>A, NM_001288805.1:c.736C>T, NR_110193.2:n.983C>A, NR_110193.2:n.983C>T, NR_110193.1:n.1010C>A, NR_110193.1:n.1010C>T, NR_110191.2:n.983C>A, NR_110191.2:n.983C>T, NR_110191.1:n.1010C>A, NR_110191.1:n.1010C>T, NM_001288809.2:c.628C>A, NM_001288809.2:c.628C>T, NM_001288809.1:c.628C>A, NM_001288809.1:c.628C>T, NM_001288806.2:c.736C>A, NM_001288806.2:c.736C>T, NM_001288806.1:c.736C>A, NM_001288806.1:c.736C>T, NM_001100598.2:c.736C>A, NM_001100598.2:c.736C>T, NM_001100598.1:c.736C>A, NM_001100598.1:c.736C>T, NM_001288807.2:c.517C>A, NM_001288807.2:c.517C>T, NM_001288807.1:c.517C>A, NM_001288807.1:c.517C>T, NR_110192.2:n.888C>A, NR_110192.2:n.888C>T, NR_110192.1:n.915C>A, NR_110192.1:n.915C>T, NR_110190.2:n.885C>A, NR_110190.2:n.885C>T, NR_110190.1:n.912C>A, NR_110190.1:n.912C>T, NM_001100599.2:c.736C>A, NM_001100599.2:c.736C>T, NM_001100599.1:c.736C>A, NM_001100599.1:c.736C>T, NM_001288808.2:c.628C>A, NM_001288808.2:c.628C>T, NM_001288808.1:c.628C>A, NM_001288808.1:c.628C>T, NP_776192.2:p.Arg246Ser, NP_776192.2:p.Arg246Cys, NP_001275734.1:p.Arg246Ser, NP_001275734.1:p.Arg246Cys, NP_001275738.1:p.Arg210Ser, NP_001275738.1:p.Arg210Cys, NP_001275735.1:p.Arg246Ser, NP_001275735.1:p.Arg246Cys, NP_001094068.1:p.Arg246Ser, NP_001094068.1:p.Arg246Cys, NP_001275736.1:p.Arg173Ser, NP_001275736.1:p.Arg173Cys, NP_001094069.1:p.Arg246Ser, NP_001094069.1:p.Arg246Cys, NP_001275737.1:p.Arg210Ser, NP_001275737.1:p.Arg210Cys

Select item 144624570710.

rs1446245707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143694081 (GRCh38)
8:144776251 (GRCh37)
Canonical SPDI:: NC_000008.11:143694080:C:T
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143694081C>T, NC_000008.10:g.144776251C>T, NT_187571.1:g.171128C>T, NW_003315923.1:g.32726C>T, NM_173831.4:c.667C>T, NM_173831.3:c.667C>T, NM_001288805.2:c.667C>T, NM_001288805.1:c.667C>T, NR_110193.2:n.914C>T, NR_110193.1:n.941C>T, NR_110191.2:n.914C>T, NR_110191.1:n.941C>T, NM_001288809.2:c.559C>T, NM_001288809.1:c.559C>T, NM_001288806.2:c.667C>T, NM_001288806.1:c.667C>T, NM_001100598.2:c.667C>T, NM_001100598.1:c.667C>T, NM_001288807.2:c.448C>T, NM_001288807.1:c.448C>T, NR_110192.2:n.819C>T, NR_110192.1:n.846C>T, NR_110190.2:n.816C>T, NR_110190.1:n.843C>T, NM_001100599.2:c.667C>T, NM_001100599.1:c.667C>T, NM_001288808.2:c.559C>T, NM_001288808.1:c.559C>T, NP_776192.2:p.Gln223Ter, NP_001275734.1:p.Gln223Ter, NP_001275738.1:p.Gln187Ter, NP_001275735.1:p.Gln223Ter, NP_001094068.1:p.Gln223Ter, NP_001275736.1:p.Gln150Ter, NP_001094069.1:p.Gln223Ter, NP_001275737.1:p.Gln187Ter

Select item 144349050611.

rs1443490506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:143694495 (GRCh38)
8:144776665 (GRCh37)
Canonical SPDI:: NC_000008.11:143694494:C:A,NC_000008.11:143694494:C:T
Gene:: ZNF707 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.143694495C>A, NC_000008.11:g.143694495C>T, NC_000008.10:g.144776665C>A, NC_000008.10:g.144776665C>T, NT_187571.1:g.171542C>A, NT_187571.1:g.171542C>T, NW_003315923.1:g.33140C>A, NW_003315923.1:g.33140C>T, NM_173831.4:c.1081C>A, NM_173831.4:c.1081C>T, NM_173831.3:c.1081C>A, NM_173831.3:c.1081C>T, NM_001288805.2:c.1081C>A, NM_001288805.2:c.1081C>T, NM_001288805.1:c.1081C>A, NM_001288805.1:c.1081C>T, NR_110193.2:n.1328C>A, NR_110193.2:n.1328C>T, NR_110193.1:n.1355C>A, NR_110193.1:n.1355C>T, NR_110191.2:n.1328C>A, NR_110191.2:n.1328C>T, NR_110191.1:n.1355C>A, NR_110191.1:n.1355C>T, NM_001288809.2:c.973C>A, NM_001288809.2:c.973C>T, NM_001288809.1:c.973C>A, NM_001288809.1:c.973C>T, NM_001288806.2:c.1081C>A, NM_001288806.2:c.1081C>T, NM_001288806.1:c.1081C>A, NM_001288806.1:c.1081C>T, NM_001100598.2:c.1081C>A, NM_001100598.2:c.1081C>T, NM_001100598.1:c.1081C>A, NM_001100598.1:c.1081C>T, NM_001288807.2:c.862C>A, NM_001288807.2:c.862C>T, NM_001288807.1:c.862C>A, NM_001288807.1:c.862C>T, NR_110192.2:n.1233C>A, NR_110192.2:n.1233C>T, NR_110192.1:n.1260C>A, NR_110192.1:n.1260C>T, NR_110190.2:n.1230C>A, NR_110190.2:n.1230C>T, NR_110190.1:n.1257C>A, NR_110190.1:n.1257C>T, NM_001100599.2:c.1081C>A, NM_001100599.2:c.1081C>T, NM_001100599.1:c.1081C>A, NM_001100599.1:c.1081C>T, NM_001288808.2:c.973C>A, NM_001288808.2:c.973C>T, NM_001288808.1:c.973C>A, NM_001288808.1:c.973C>T, NP_776192.2:p.Arg361Trp, NP_001275734.1:p.Arg361Trp, NP_001275738.1:p.Arg325Trp, NP_001275735.1:p.Arg361Trp, NP_001094068.1:p.Arg361Trp, NP_001275736.1:p.Arg288Trp, NP_001094069.1:p.Arg361Trp, NP_001275737.1:p.Arg325Trp

Select item 143040654912.

rs1430406549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:143694102 (GRCh38)
8:144776272 (GRCh37)
Canonical SPDI:: NC_000008.11:143694101:A:C
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143694102A>C, NC_000008.10:g.144776272A>C, NT_187571.1:g.171149A>C, NW_003315923.1:g.32747A>C, NM_173831.4:c.688A>C, NM_173831.3:c.688A>C, NM_001288805.2:c.688A>C, NM_001288805.1:c.688A>C, NR_110193.2:n.935A>C, NR_110193.1:n.962A>C, NR_110191.2:n.935A>C, NR_110191.1:n.962A>C, NM_001288809.2:c.580A>C, NM_001288809.1:c.580A>C, NM_001288806.2:c.688A>C, NM_001288806.1:c.688A>C, NM_001100598.2:c.688A>C, NM_001100598.1:c.688A>C, NM_001288807.2:c.469A>C, NM_001288807.1:c.469A>C, NR_110192.2:n.840A>C, NR_110192.1:n.867A>C, NR_110190.2:n.837A>C, NR_110190.1:n.864A>C, NM_001100599.2:c.688A>C, NM_001100599.1:c.688A>C, NM_001288808.2:c.580A>C, NM_001288808.1:c.580A>C, NP_776192.2:p.Lys230Gln, NP_001275734.1:p.Lys230Gln, NP_001275738.1:p.Lys194Gln, NP_001275735.1:p.Lys230Gln, NP_001094068.1:p.Lys230Gln, NP_001275736.1:p.Lys157Gln, NP_001094069.1:p.Lys230Gln, NP_001275737.1:p.Lys194Gln

Select item 142657607213.

rs1426576072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:143694187 (GRCh38)
8:144776357 (GRCh37)
Canonical SPDI:: NC_000008.11:143694186:G:T
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143694187G>T, NC_000008.10:g.144776357G>T, NT_187571.1:g.171234G>T, NW_003315923.1:g.32832G>T, NM_173831.4:c.773G>T, NM_173831.3:c.773G>T, NM_001288805.2:c.773G>T, NM_001288805.1:c.773G>T, NR_110193.2:n.1020G>T, NR_110193.1:n.1047G>T, NR_110191.2:n.1020G>T, NR_110191.1:n.1047G>T, NM_001288809.2:c.665G>T, NM_001288809.1:c.665G>T, NM_001288806.2:c.773G>T, NM_001288806.1:c.773G>T, NM_001100598.2:c.773G>T, NM_001100598.1:c.773G>T, NM_001288807.2:c.554G>T, NM_001288807.1:c.554G>T, NR_110192.2:n.925G>T, NR_110192.1:n.952G>T, NR_110190.2:n.922G>T, NR_110190.1:n.949G>T, NM_001100599.2:c.773G>T, NM_001100599.1:c.773G>T, NM_001288808.2:c.665G>T, NM_001288808.1:c.665G>T, NP_776192.2:p.Arg258Met, NP_001275734.1:p.Arg258Met, NP_001275738.1:p.Arg222Met, NP_001275735.1:p.Arg258Met, NP_001094068.1:p.Arg258Met, NP_001275736.1:p.Arg185Met, NP_001094069.1:p.Arg258Met, NP_001275737.1:p.Arg222Met

Select item 142473548314.

rs1424735483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143694506 (GRCh38)
8:144776676 (GRCh37)
Canonical SPDI:: NC_000008.11:143694505:G:A
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000008.11:g.143694506G>A, NC_000008.10:g.144776676G>A, NT_187571.1:g.171553G>A, NW_003315923.1:g.33151G>A, NM_173831.4:c.1092G>A, NM_173831.3:c.1092G>A, NM_001288805.2:c.1092G>A, NM_001288805.1:c.1092G>A, NR_110193.2:n.1339G>A, NR_110193.1:n.1366G>A, NR_110191.2:n.1339G>A, NR_110191.1:n.1366G>A, NM_001288809.2:c.984G>A, NM_001288809.1:c.984G>A, NM_001288806.2:c.1092G>A, NM_001288806.1:c.1092G>A, NM_001100598.2:c.1092G>A, NM_001100598.1:c.1092G>A, NM_001288807.2:c.873G>A, NM_001288807.1:c.873G>A, NR_110192.2:n.1244G>A, NR_110192.1:n.1271G>A, NR_110190.2:n.1241G>A, NR_110190.1:n.1268G>A, NM_001100599.2:c.1092G>A, NM_001100599.1:c.1092G>A, NM_001288808.2:c.984G>A, NM_001288808.1:c.984G>A

Select item 141677079515.

rs1416770795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:143694411 (GRCh38)
8:144776581 (GRCh37)
Canonical SPDI:: NC_000008.11:143694410:A:C
Gene:: ZNF707 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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)
HGVS:: NC_000008.11:g.143694411A>C, NC_000008.10:g.144776581A>C, NT_187571.1:g.171458A>C, NW_003315923.1:g.33056A>C, NM_173831.4:c.997A>C, NM_173831.3:c.997A>C, NM_001288805.2:c.997A>C, NM_001288805.1:c.997A>C, NR_110193.2:n.1244A>C, NR_110193.1:n.1271A>C, NR_110191.2:n.1244A>C, NR_110191.1:n.1271A>C, NM_001288809.2:c.889A>C, NM_001288809.1:c.889A>C, NM_001288806.2:c.997A>C, NM_001288806.1:c.997A>C, NM_001100598.2:c.997A>C, NM_001100598.1:c.997A>C, NM_001288807.2:c.778A>C, NM_001288807.1:c.778A>C, NR_110192.2:n.1149A>C, NR_110192.1:n.1176A>C, NR_110190.2:n.1146A>C, NR_110190.1:n.1173A>C, NM_001100599.2:c.997A>C, NM_001100599.1:c.997A>C, NM_001288808.2:c.889A>C, NM_001288808.1:c.889A>C, NP_776192.2:p.Ile333Leu, NP_001275734.1:p.Ile333Leu, NP_001275738.1:p.Ile297Leu, NP_001275735.1:p.Ile333Leu, NP_001094068.1:p.Ile333Leu, NP_001275736.1:p.Ile260Leu, NP_001094069.1:p.Ile333Leu, NP_001275737.1:p.Ile297Leu

Select item 140957847516.

rs1409578475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143694413 (GRCh38)
8:144776583 (GRCh37)
Canonical SPDI:: NC_000008.11:143694412:C:G
Gene:: ZNF707 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143694413C>G, NC_000008.10:g.144776583C>G, NT_187571.1:g.171460C>G, NW_003315923.1:g.33058C>G, NM_173831.4:c.999C>G, NM_173831.3:c.999C>G, NM_001288805.2:c.999C>G, NM_001288805.1:c.999C>G, NR_110193.2:n.1246C>G, NR_110193.1:n.1273C>G, NR_110191.2:n.1246C>G, NR_110191.1:n.1273C>G, NM_001288809.2:c.891C>G, NM_001288809.1:c.891C>G, NM_001288806.2:c.999C>G, NM_001288806.1:c.999C>G, NM_001100598.2:c.999C>G, NM_001100598.1:c.999C>G, NM_001288807.2:c.780C>G, NM_001288807.1:c.780C>G, NR_110192.2:n.1151C>G, NR_110192.1:n.1178C>G, NR_110190.2:n.1148C>G, NR_110190.1:n.1175C>G, NM_001100599.2:c.999C>G, NM_001100599.1:c.999C>G, NM_001288808.2:c.891C>G, NM_001288808.1:c.891C>G, NP_776192.2:p.Ile333Met, NP_001275734.1:p.Ile333Met, NP_001275738.1:p.Ile297Met, NP_001275735.1:p.Ile333Met, NP_001094068.1:p.Ile333Met, NP_001275736.1:p.Ile260Met, NP_001094069.1:p.Ile333Met, NP_001275737.1:p.Ile297Met

Select item 140875765517.

rs1408757655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143694038 (GRCh38)
8:144776208 (GRCh37)
Canonical SPDI:: NC_000008.11:143694037:G:A
Gene:: ZNF707 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000008.11:g.143694038G>A, NC_000008.10:g.144776208G>A, NT_187571.1:g.171085G>A, NW_003315923.1:g.32683G>A, NM_173831.4:c.624G>A, NM_173831.3:c.624G>A, NM_001288805.2:c.624G>A, NM_001288805.1:c.624G>A, NR_110193.2:n.871G>A, NR_110193.1:n.898G>A, NR_110191.2:n.871G>A, NR_110191.1:n.898G>A, NM_001288809.2:c.516G>A, NM_001288809.1:c.516G>A, NM_001288806.2:c.624G>A, NM_001288806.1:c.624G>A, NM_001100598.2:c.624G>A, NM_001100598.1:c.624G>A, NM_001288807.2:c.405G>A, NM_001288807.1:c.405G>A, NR_110192.2:n.776G>A, NR_110192.1:n.803G>A, NR_110190.2:n.773G>A, NR_110190.1:n.800G>A, NM_001100599.2:c.624G>A, NM_001100599.1:c.624G>A, NM_001288808.2:c.516G>A, NM_001288808.1:c.516G>A

Select item 140850183918.

rs1408501839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143694198 (GRCh38)
8:144776368 (GRCh37)
Canonical SPDI:: NC_000008.11:143694197:T:G
Gene:: ZNF707 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143694198T>G, NC_000008.10:g.144776368T>G, NT_187571.1:g.171245T>G, NW_003315923.1:g.32843T>G, NM_173831.4:c.784T>G, NM_173831.3:c.784T>G, NM_001288805.2:c.784T>G, NM_001288805.1:c.784T>G, NR_110193.2:n.1031T>G, NR_110193.1:n.1058T>G, NR_110191.2:n.1031T>G, NR_110191.1:n.1058T>G, NM_001288809.2:c.676T>G, NM_001288809.1:c.676T>G, NM_001288806.2:c.784T>G, NM_001288806.1:c.784T>G, NM_001100598.2:c.784T>G, NM_001100598.1:c.784T>G, NM_001288807.2:c.565T>G, NM_001288807.1:c.565T>G, NR_110192.2:n.936T>G, NR_110192.1:n.963T>G, NR_110190.2:n.933T>G, NR_110190.1:n.960T>G, NM_001100599.2:c.784T>G, NM_001100599.1:c.784T>G, NM_001288808.2:c.676T>G, NM_001288808.1:c.676T>G, NP_776192.2:p.Cys262Gly, NP_001275734.1:p.Cys262Gly, NP_001275738.1:p.Cys226Gly, NP_001275735.1:p.Cys262Gly, NP_001094068.1:p.Cys262Gly, NP_001275736.1:p.Cys189Gly, NP_001094069.1:p.Cys262Gly, NP_001275737.1:p.Cys226Gly

Select item 138909950819.

rs1389099508 has merged into rs782168752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTTCCCAGAGC>- [Show Flanks]
Chromosome:: 8:143693809 (GRCh38)
8:144775979 (GRCh37)
Canonical SPDI:: NC_000008.11:143693806:GCAGCTTCCCAGAGC:GC
Gene:: ZNF707 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.143693809_143693821del, NC_000008.10:g.144775979_144775991del, NT_187571.1:g.170856_170868del, NW_003315923.1:g.32454_32466del, NM_173831.4:c.395_407del, NM_173831.3:c.395_407del, NM_001288805.2:c.395_407del, NM_001288805.1:c.395_407del, NR_110193.2:n.642_654del, NR_110193.1:n.669_681del, NR_110191.2:n.642_654del, NR_110191.1:n.669_681del, NM_001288809.2:c.287_299del, NM_001288809.1:c.287_299del, NM_001288806.2:c.395_407del, NM_001288806.1:c.395_407del, NM_001100598.2:c.395_407del, NM_001100598.1:c.395_407del, NM_001288807.2:c.176_188del, NM_001288807.1:c.176_188del, NR_110192.2:n.547_559del, NR_110192.1:n.574_586del, NR_110190.2:n.544_556del, NR_110190.1:n.571_583del, NM_001100599.2:c.395_407del, NM_001100599.1:c.395_407del, NM_001288808.2:c.287_299del, NM_001288808.1:c.287_299del, NP_776192.2:p.Gln132fs, NP_001275734.1:p.Gln132fs, NP_001275738.1:p.Gln96fs, NP_001275735.1:p.Gln132fs, NP_001094068.1:p.Gln132fs, NP_001275736.1:p.Gln59fs, NP_001094069.1:p.Gln132fs, NP_001275737.1:p.Gln96fs

Select item 138690005620.

rs1386900056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143693791 (GRCh38)
8:144775961 (GRCh37)
Canonical SPDI:: NC_000008.11:143693790:T:C
Gene:: ZNF707 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143693791T>C, NC_000008.10:g.144775961T>C, NT_187571.1:g.170838T>C, NW_003315923.1:g.32436T>C, NM_173831.4:c.377T>C, NM_173831.3:c.377T>C, NM_001288805.2:c.377T>C, NM_001288805.1:c.377T>C, NR_110193.2:n.624T>C, NR_110193.1:n.651T>C, NR_110191.2:n.624T>C, NR_110191.1:n.651T>C, NM_001288809.2:c.269T>C, NM_001288809.1:c.269T>C, NM_001288806.2:c.377T>C, NM_001288806.1:c.377T>C, NM_001100598.2:c.377T>C, NM_001100598.1:c.377T>C, NM_001288807.2:c.158T>C, NM_001288807.1:c.158T>C, NR_110192.2:n.529T>C, NR_110192.1:n.556T>C, NR_110190.2:n.526T>C, NR_110190.1:n.553T>C, NM_001100599.2:c.377T>C, NM_001100599.1:c.377T>C, NM_001288808.2:c.269T>C, NM_001288808.1:c.269T>C, NP_776192.2:p.Leu126Pro, NP_001275734.1:p.Leu126Pro, NP_001275738.1:p.Leu90Pro, NP_001275735.1:p.Leu126Pro, NP_001094068.1:p.Leu126Pro, NP_001275736.1:p.Leu53Pro, NP_001094069.1:p.Leu126Pro, NP_001275737.1:p.Leu90Pro

<< First< Prev

Page of 16

Next >Last >>

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 318

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity