SNP Links for Protein (Select 332634996) - SNP - NCBI

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Links from Protein

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Select item 14893845361.

rs1489384536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:12044098 (GRCh38)
19:12154913 (GRCh37)
Canonical SPDI:: NC_000019.10:12044097:C:A
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12044098C>A, NC_000019.9:g.12154913C>A, NM_001080404.3:c.1303G>T, NM_001080404.2:c.1303G>T, XM_017027196.2:c.1408G>T, XM_017027196.1:c.1408G>T, XM_017027195.2:c.1411G>T, XM_017027195.1:c.1411G>T, XM_047439308.1:c.1300G>T, NP_001073873.2:p.Ala435Ser, XP_016882685.1:p.Ala470Ser, XP_016882684.1:p.Ala471Ser, XP_047295264.1:p.Ala434Ser

Select item 14892737402.

rs1489273740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12044412 (GRCh38)
19:12155227 (GRCh37)
Canonical SPDI:: NC_000019.10:12044411:T:C
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.12044412T>C, NC_000019.9:g.12155227T>C, NM_001080404.3:c.989A>G, NM_001080404.2:c.989A>G, XM_017027196.2:c.1094A>G, XM_017027196.1:c.1094A>G, XM_017027195.2:c.1097A>G, XM_017027195.1:c.1097A>G, XM_047439308.1:c.986A>G, NP_001073873.2:p.Glu330Gly, XP_016882685.1:p.Glu365Gly, XP_016882684.1:p.Glu366Gly, XP_047295264.1:p.Glu329Gly

Select item 14885885933.

rs1488588593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:12046412 (GRCh38)
19:12157227 (GRCh37)
Canonical SPDI:: NC_000019.10:12046411:G:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.12046412G>T, NC_000019.9:g.12157227G>T, NM_001080404.3:c.147C>A, NM_001080404.2:c.147C>A, XM_017027196.2:c.255C>A, XM_017027196.1:c.255C>A, XM_017027195.2:c.255C>A, XM_017027195.1:c.255C>A, XM_047439308.1:c.147C>A, NP_001073873.2:p.Asn49Lys, XP_016882685.1:p.Asn85Lys, XP_016882684.1:p.Asn85Lys, XP_047295264.1:p.Asn49Lys

Select item 14878691914.

rs1487869191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12044561 (GRCh38)
19:12155376 (GRCh37)
Canonical SPDI:: NC_000019.10:12044560:C:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044561C>T, NC_000019.9:g.12155376C>T, NM_001080404.3:c.840G>A, NM_001080404.2:c.840G>A, XM_017027196.2:c.945G>A, XM_017027196.1:c.945G>A, XM_017027195.2:c.948G>A, XM_017027195.1:c.948G>A, XM_047439308.1:c.837G>A

Select item 14847408325.

rs1484740832 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:12044403 (GRCh38)
19:12155218 (GRCh37)
Canonical SPDI:: NC_000019.10:12044399:GTGTG:GTG
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000161/2 (GoESP)
HGVS:: NC_000019.10:g.12044401TG[1], NC_000019.9:g.12155216TG[1], NM_001080404.3:c.1000_1001del, NM_001080404.2:c.1000_1001del, XM_017027196.2:c.1105_1106del, XM_017027196.1:c.1105_1106del, XM_017027195.2:c.1108_1109del, XM_017027195.1:c.1108_1109del, XM_047439308.1:c.997_998del, NP_001073873.2:p.Thr334fs, XP_016882685.1:p.Thr369fs, XP_016882684.1:p.Thr370fs, XP_047295264.1:p.Thr333fs

Select item 14838339786.

rs1483833978 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:12044860 (GRCh38)
19:12155675 (GRCh37)
Canonical SPDI:: NC_000019.10:12044859:TG:
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.12044860_12044861del, NC_000019.9:g.12155675_12155676del, NM_001080404.3:c.540_541del, NM_001080404.2:c.540_541del, XM_017027196.2:c.645_646del, XM_017027196.1:c.645_646del, XM_017027195.2:c.648_649del, XM_017027195.1:c.648_649del, XM_047439308.1:c.537_538del, NP_001073873.2:p.Phe180fs, XP_016882685.1:p.Phe215fs, XP_016882684.1:p.Phe216fs, XP_047295264.1:p.Phe179fs

Select item 14821414147.

rs1482141414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12044130 (GRCh38)
19:12154945 (GRCh37)
Canonical SPDI:: NC_000019.10:12044129:C:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12044130C>T, NC_000019.9:g.12154945C>T, NM_001080404.3:c.1271G>A, NM_001080404.2:c.1271G>A, XM_017027196.2:c.1376G>A, XM_017027196.1:c.1376G>A, XM_017027195.2:c.1379G>A, XM_017027195.1:c.1379G>A, XM_047439308.1:c.1268G>A, NP_001073873.2:p.Gly424Glu, XP_016882685.1:p.Gly459Glu, XP_016882684.1:p.Gly460Glu, XP_047295264.1:p.Gly423Glu

Select item 14790495608.

rs1479049560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12044840 (GRCh38)
19:12155655 (GRCh37)
Canonical SPDI:: NC_000019.10:12044839:A:G
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044840A>G, NC_000019.9:g.12155655A>G, NM_001080404.3:c.561T>C, NM_001080404.2:c.561T>C, XM_017027196.2:c.666T>C, XM_017027196.1:c.666T>C, XM_017027195.2:c.669T>C, XM_017027195.1:c.669T>C, XM_047439308.1:c.558T>C

Select item 14790292529.

rs1479029252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12044032 (GRCh38)
19:12154847 (GRCh37)
Canonical SPDI:: NC_000019.10:12044031:C:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044032C>T, NC_000019.9:g.12154847C>T, NM_001080404.3:c.1369G>A, NM_001080404.2:c.1369G>A, XM_017027196.2:c.1474G>A, XM_017027196.1:c.1474G>A, XM_017027195.2:c.1477G>A, XM_017027195.1:c.1477G>A, XM_047439308.1:c.1366G>A, NP_001073873.2:p.Gly457Arg, XP_016882685.1:p.Gly492Arg, XP_016882684.1:p.Gly493Arg, XP_047295264.1:p.Gly456Arg

Select item 147742380210.

rs1477423802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12044430 (GRCh38)
19:12155245 (GRCh37)
Canonical SPDI:: NC_000019.10:12044429:G:A
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044430G>A, NC_000019.9:g.12155245G>A, NM_001080404.3:c.971C>T, NM_001080404.2:c.971C>T, XM_017027196.2:c.1076C>T, XM_017027196.1:c.1076C>T, XM_017027195.2:c.1079C>T, XM_017027195.1:c.1079C>T, XM_047439308.1:c.968C>T, NP_001073873.2:p.Thr324Ile, XP_016882685.1:p.Thr359Ile, XP_016882684.1:p.Thr360Ile, XP_047295264.1:p.Thr323Ile

Select item 147186050411.

rs1471860504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12044213 (GRCh38)
19:12155028 (GRCh37)
Canonical SPDI:: NC_000019.10:12044212:C:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000019.10:g.12044213C>T, NC_000019.9:g.12155028C>T, NM_001080404.3:c.1188G>A, NM_001080404.2:c.1188G>A, XM_017027196.2:c.1293G>A, XM_017027196.1:c.1293G>A, XM_017027195.2:c.1296G>A, XM_017027195.1:c.1296G>A, XM_047439308.1:c.1185G>A

Select item 146976883712.

rs1469768837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12044668 (GRCh38)
19:12155483 (GRCh37)
Canonical SPDI:: NC_000019.10:12044667:G:A
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044668G>A, NC_000019.9:g.12155483G>A, NM_001080404.3:c.733C>T, NM_001080404.2:c.733C>T, XM_017027196.2:c.838C>T, XM_017027196.1:c.838C>T, XM_017027195.2:c.841C>T, XM_017027195.1:c.841C>T, XM_047439308.1:c.730C>T, NP_001073873.2:p.His245Tyr, XP_016882685.1:p.His280Tyr, XP_016882684.1:p.His281Tyr, XP_047295264.1:p.His244Tyr

Select item 146745259413.

rs1467452594 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:12044230 (GRCh38)
19:12155045 (GRCh37)
Canonical SPDI:: NC_000019.10:12044229:CA:
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044230_12044231del, NC_000019.9:g.12155045_12155046del, NM_001080404.3:c.1170_1171del, NM_001080404.2:c.1170_1171del, XM_017027196.2:c.1275_1276del, XM_017027196.1:c.1275_1276del, XM_017027195.2:c.1278_1279del, XM_017027195.1:c.1278_1279del, XM_047439308.1:c.1167_1168del, NP_001073873.2:p.Gly391fs, XP_016882685.1:p.Gly426fs, XP_016882684.1:p.Gly427fs, XP_047295264.1:p.Gly390fs

Select item 146736825314.

rs1467368253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:12045154 (GRCh38)
19:12155969 (GRCh37)
Canonical SPDI:: NC_000019.10:12045153:C:A
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12045154C>A, NC_000019.9:g.12155969C>A, NM_001080404.3:c.247G>T, NM_001080404.2:c.247G>T, XM_017027196.2:c.352G>T, XM_017027196.1:c.352G>T, XM_017027195.2:c.355G>T, XM_017027195.1:c.355G>T, XM_047439308.1:c.244G>T, NP_001073873.2:p.Val83Phe, XP_016882685.1:p.Val118Phe, XP_016882684.1:p.Val119Phe, XP_047295264.1:p.Val82Phe

Select item 146679399715.

rs1466793997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12044703 (GRCh38)
19:12155518 (GRCh37)
Canonical SPDI:: NC_000019.10:12044702:C:T
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12044703C>T, NC_000019.9:g.12155518C>T, NM_001080404.3:c.698G>A, NM_001080404.2:c.698G>A, XM_017027196.2:c.803G>A, XM_017027196.1:c.803G>A, XM_017027195.2:c.806G>A, XM_017027195.1:c.806G>A, XM_047439308.1:c.695G>A, NP_001073873.2:p.Gly233Glu, XP_016882685.1:p.Gly268Glu, XP_016882684.1:p.Gly269Glu, XP_047295264.1:p.Gly232Glu

Select item 146445049416.

rs1464450494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12043923 (GRCh38)
19:12154738 (GRCh37)
Canonical SPDI:: NC_000019.10:12043922:G:A
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12043923G>A, NC_000019.9:g.12154738G>A, NM_001080404.3:c.1478C>T, NM_001080404.2:c.1478C>T, XM_017027196.2:c.1583C>T, XM_017027196.1:c.1583C>T, XM_017027195.2:c.1586C>T, XM_017027195.1:c.1586C>T, XM_047439308.1:c.1475C>T, NP_001073873.2:p.Ser493Phe, XP_016882685.1:p.Ser528Phe, XP_016882684.1:p.Ser529Phe, XP_047295264.1:p.Ser492Phe

Select item 146236828117.

rs1462368281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12044038 (GRCh38)
19:12154853 (GRCh37)
Canonical SPDI:: NC_000019.10:12044037:G:C
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_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=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.12044038G>C, NC_000019.9:g.12154853G>C, NM_001080404.3:c.1363C>G, NM_001080404.2:c.1363C>G, XM_017027196.2:c.1468C>G, XM_017027196.1:c.1468C>G, XM_017027195.2:c.1471C>G, XM_017027195.1:c.1471C>G, XM_047439308.1:c.1360C>G, NP_001073873.2:p.Gln455Glu, XP_016882685.1:p.Gln490Glu, XP_016882684.1:p.Gln491Glu, XP_047295264.1:p.Gln454Glu

Select item 145914364318.

rs1459143643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:12045208 (GRCh38)
19:12156023 (GRCh37)
Canonical SPDI:: NC_000019.10:12045207:T:G
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12045208T>G, NC_000019.9:g.12156023T>G, NM_001080404.3:c.193A>C, NM_001080404.2:c.193A>C, XM_017027195.2:c.301A>C, XM_017027195.1:c.301A>C

Select item 145877797619.

rs1458777976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:12045022 (GRCh38)
19:12155837 (GRCh37)
Canonical SPDI:: NC_000019.10:12045021:A:C
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12045022A>C, NC_000019.9:g.12155837A>C, NM_001080404.3:c.379T>G, NM_001080404.2:c.379T>G, XM_017027196.2:c.484T>G, XM_017027196.1:c.484T>G, XM_017027195.2:c.487T>G, XM_017027195.1:c.487T>G, XM_047439308.1:c.376T>G, NP_001073873.2:p.Ser127Ala, XP_016882685.1:p.Ser162Ala, XP_016882684.1:p.Ser163Ala, XP_047295264.1:p.Ser126Ala

Select item 145596639120.

rs1455966391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12044297 (GRCh38)
19:12155112 (GRCh37)
Canonical SPDI:: NC_000019.10:12044296:T:C
Gene:: ZNF878 (Varview), ZNF433-AS1 (Varview)
Functional Consequence:: intron_variant,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_000019.10:g.12044297T>C, NC_000019.9:g.12155112T>C, NM_001080404.3:c.1104A>G, NM_001080404.2:c.1104A>G, XM_017027196.2:c.1209A>G, XM_017027196.1:c.1209A>G, XM_017027195.2:c.1212A>G, XM_017027195.1:c.1212A>G, XM_047439308.1:c.1101A>G

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