SNP Links for Protein (Select 1237938009) - SNP

Links from Protein

Items: 1 to 20 of 637

<< First< Prev

Page of 32

Next >Last >>

Select item 14846104511.

rs1484610451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:7001039 (GRCh38)
11:7022270 (GRCh37)
Canonical SPDI:: NC_000011.10:7001038:T:C
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.7001039T>C, NC_000011.9:g.7022270T>C, XM_006718309.5:c.602A>G, XM_006718309.4:c.602A>G, XM_006718309.3:c.602A>G, XM_006718309.2:c.602A>G, XM_006718309.1:c.602A>G, NM_013249.4:c.644A>G, NM_013249.3:c.644A>G, NM_013249.2:c.644A>G, XM_011520357.4:c.602A>G, XM_011520357.3:c.602A>G, XM_011520357.2:c.602A>G, XM_011520357.1:c.602A>G, XM_017018269.3:c.602A>G, XM_017018269.2:c.602A>G, XM_017018269.1:c.602A>G, NM_001354831.2:c.644A>G, NM_001354831.1:c.644A>G, NM_001354830.2:c.677A>G, NM_001354830.1:c.677A>G, NM_001354833.2:c.602A>G, NM_001354833.1:c.602A>G, NM_001354832.2:c.644A>G, NM_001354832.1:c.644A>G, XM_047427565.1:c.644A>G, XP_006718372.1:p.Glu201Gly, NP_037381.2:p.Glu215Gly, XP_011518659.1:p.Glu201Gly, XP_016873758.1:p.Glu201Gly, NP_001341760.1:p.Glu215Gly, NP_001341759.1:p.Glu226Gly, NP_001341762.1:p.Glu201Gly, NP_001341761.1:p.Glu215Gly, XP_047283521.1:p.Glu215Gly

Select item 14846044312.

rs1484604431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:7000650 (GRCh38)
11:7021881 (GRCh37)
Canonical SPDI:: NC_000011.10:7000649:G:A
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_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_000011.10:g.7000650G>A, NC_000011.9:g.7021881G>A, XM_006718309.5:c.991C>T, XM_006718309.4:c.991C>T, XM_006718309.3:c.991C>T, XM_006718309.2:c.991C>T, XM_006718309.1:c.991C>T, NM_013249.4:c.1033C>T, NM_013249.3:c.1033C>T, NM_013249.2:c.1033C>T, XM_011520357.4:c.991C>T, XM_011520357.3:c.991C>T, XM_011520357.2:c.991C>T, XM_011520357.1:c.991C>T, XM_017018269.3:c.991C>T, XM_017018269.2:c.991C>T, XM_017018269.1:c.991C>T, NM_001354831.2:c.1033C>T, NM_001354831.1:c.1033C>T, NM_001354830.2:c.1066C>T, NM_001354830.1:c.1066C>T, NM_001354833.2:c.991C>T, NM_001354833.1:c.991C>T, NM_001354832.2:c.1033C>T, NM_001354832.1:c.1033C>T, XM_047427565.1:c.1033C>T, XP_006718372.1:p.Leu331Phe, NP_037381.2:p.Leu345Phe, XP_011518659.1:p.Leu331Phe, XP_016873758.1:p.Leu331Phe, NP_001341760.1:p.Leu345Phe, NP_001341759.1:p.Leu356Phe, NP_001341762.1:p.Leu331Phe, NP_001341761.1:p.Leu345Phe, XP_047283521.1:p.Leu345Phe

Select item 14845081963.

rs1484508196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:7000063 (GRCh38)
11:7021294 (GRCh37)
Canonical SPDI:: NC_000011.10:7000062:A:C,NC_000011.10:7000062:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7000063A>C, NC_000011.10:g.7000063A>G, NC_000011.9:g.7021294A>C, NC_000011.9:g.7021294A>G, XM_006718309.5:c.1578T>G, XM_006718309.5:c.1578T>C, XM_006718309.4:c.1578T>G, XM_006718309.4:c.1578T>C, XM_006718309.3:c.1578T>G, XM_006718309.3:c.1578T>C, XM_006718309.2:c.1578T>G, XM_006718309.2:c.1578T>C, XM_006718309.1:c.1578T>G, XM_006718309.1:c.1578T>C, NM_013249.4:c.1620T>G, NM_013249.4:c.1620T>C, NM_013249.3:c.1620T>G, NM_013249.3:c.1620T>C, NM_013249.2:c.1620T>G, NM_013249.2:c.1620T>C, XM_011520357.4:c.1578T>G, XM_011520357.4:c.1578T>C, XM_011520357.3:c.1578T>G, XM_011520357.3:c.1578T>C, XM_011520357.2:c.1578T>G, XM_011520357.2:c.1578T>C, XM_011520357.1:c.1578T>G, XM_011520357.1:c.1578T>C, XM_017018269.3:c.1578T>G, XM_017018269.3:c.1578T>C, XM_017018269.2:c.1578T>G, XM_017018269.2:c.1578T>C, XM_017018269.1:c.1578T>G, XM_017018269.1:c.1578T>C, NM_001354831.2:c.1620T>G, NM_001354831.2:c.1620T>C, NM_001354831.1:c.1620T>G, NM_001354831.1:c.1620T>C, NM_001354830.2:c.1653T>G, NM_001354830.2:c.1653T>C, NM_001354830.1:c.1653T>G, NM_001354830.1:c.1653T>C, NM_001354833.2:c.1578T>G, NM_001354833.2:c.1578T>C, NM_001354833.1:c.1578T>G, NM_001354833.1:c.1578T>C, NM_001354832.2:c.1620T>G, NM_001354832.2:c.1620T>C, NM_001354832.1:c.1620T>G, NM_001354832.1:c.1620T>C, XM_047427565.1:c.1620T>G, XM_047427565.1:c.1620T>C, XP_006718372.1:p.Asn526Lys, NP_037381.2:p.Asn540Lys, XP_011518659.1:p.Asn526Lys, XP_016873758.1:p.Asn526Lys, NP_001341760.1:p.Asn540Lys, NP_001341759.1:p.Asn551Lys, NP_001341762.1:p.Asn526Lys, NP_001341761.1:p.Asn540Lys, XP_047283521.1:p.Asn540Lys

Select item 14826026034.

rs1482602603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7001382 (GRCh38)
11:7022613 (GRCh37)
Canonical SPDI:: NC_000011.10:7001381:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7001382A>G, NC_000011.9:g.7022613A>G, XM_006718309.5:c.259T>C, XM_006718309.4:c.259T>C, XM_006718309.3:c.259T>C, XM_006718309.2:c.259T>C, XM_006718309.1:c.259T>C, NM_013249.4:c.301T>C, NM_013249.3:c.301T>C, NM_013249.2:c.301T>C, XM_011520357.4:c.259T>C, XM_011520357.3:c.259T>C, XM_011520357.2:c.259T>C, XM_011520357.1:c.259T>C, XM_017018269.3:c.259T>C, XM_017018269.2:c.259T>C, XM_017018269.1:c.259T>C, NM_001354831.2:c.301T>C, NM_001354831.1:c.301T>C, NM_001354830.2:c.334T>C, NM_001354830.1:c.334T>C, NM_001354833.2:c.259T>C, NM_001354833.1:c.259T>C, NM_001354832.2:c.301T>C, NM_001354832.1:c.301T>C, XM_047427565.1:c.301T>C, XP_006718372.1:p.Ser87Pro, NP_037381.2:p.Ser101Pro, XP_011518659.1:p.Ser87Pro, XP_016873758.1:p.Ser87Pro, NP_001341760.1:p.Ser101Pro, NP_001341759.1:p.Ser112Pro, NP_001341762.1:p.Ser87Pro, NP_001341761.1:p.Ser101Pro, XP_047283521.1:p.Ser101Pro

Select item 14789128075.

rs1478912807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7000474 (GRCh38)
11:7021705 (GRCh37)
Canonical SPDI:: NC_000011.10:7000473:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.7000474A>G, NC_000011.9:g.7021705A>G, XM_006718309.5:c.1167T>C, XM_006718309.4:c.1167T>C, XM_006718309.3:c.1167T>C, XM_006718309.2:c.1167T>C, XM_006718309.1:c.1167T>C, NM_013249.4:c.1209T>C, NM_013249.3:c.1209T>C, NM_013249.2:c.1209T>C, XM_011520357.4:c.1167T>C, XM_011520357.3:c.1167T>C, XM_011520357.2:c.1167T>C, XM_011520357.1:c.1167T>C, XM_017018269.3:c.1167T>C, XM_017018269.2:c.1167T>C, XM_017018269.1:c.1167T>C, NM_001354831.2:c.1209T>C, NM_001354831.1:c.1209T>C, NM_001354830.2:c.1242T>C, NM_001354830.1:c.1242T>C, NM_001354833.2:c.1167T>C, NM_001354833.1:c.1167T>C, NM_001354832.2:c.1209T>C, NM_001354832.1:c.1209T>C, XM_047427565.1:c.1209T>C

Select item 14778798966.

rs1477879896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7000080 (GRCh38)
11:7021311 (GRCh37)
Canonical SPDI:: NC_000011.10:7000079:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7000080A>G, NC_000011.9:g.7021311A>G, XM_006718309.5:c.1561T>C, XM_006718309.4:c.1561T>C, XM_006718309.3:c.1561T>C, XM_006718309.2:c.1561T>C, XM_006718309.1:c.1561T>C, NM_013249.4:c.1603T>C, NM_013249.3:c.1603T>C, NM_013249.2:c.1603T>C, XM_011520357.4:c.1561T>C, XM_011520357.3:c.1561T>C, XM_011520357.2:c.1561T>C, XM_011520357.1:c.1561T>C, XM_017018269.3:c.1561T>C, XM_017018269.2:c.1561T>C, XM_017018269.1:c.1561T>C, NM_001354831.2:c.1603T>C, NM_001354831.1:c.1603T>C, NM_001354830.2:c.1636T>C, NM_001354830.1:c.1636T>C, NM_001354833.2:c.1561T>C, NM_001354833.1:c.1561T>C, NM_001354832.2:c.1603T>C, NM_001354832.1:c.1603T>C, XM_047427565.1:c.1603T>C, XP_006718372.1:p.Phe521Leu, NP_037381.2:p.Phe535Leu, XP_011518659.1:p.Phe521Leu, XP_016873758.1:p.Phe521Leu, NP_001341760.1:p.Phe535Leu, NP_001341759.1:p.Phe546Leu, NP_001341762.1:p.Phe521Leu, NP_001341761.1:p.Phe535Leu, XP_047283521.1:p.Phe535Leu

Select item 14776618847.

rs1477661884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:7000825 (GRCh38)
11:7022056 (GRCh37)
Canonical SPDI:: NC_000011.10:7000824:C:T
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.7000825C>T, NC_000011.9:g.7022056C>T, XM_006718309.5:c.816G>A, XM_006718309.4:c.816G>A, XM_006718309.3:c.816G>A, XM_006718309.2:c.816G>A, XM_006718309.1:c.816G>A, NM_013249.4:c.858G>A, NM_013249.3:c.858G>A, NM_013249.2:c.858G>A, XM_011520357.4:c.816G>A, XM_011520357.3:c.816G>A, XM_011520357.2:c.816G>A, XM_011520357.1:c.816G>A, XM_017018269.3:c.816G>A, XM_017018269.2:c.816G>A, XM_017018269.1:c.816G>A, NM_001354831.2:c.858G>A, NM_001354831.1:c.858G>A, NM_001354830.2:c.891G>A, NM_001354830.1:c.891G>A, NM_001354833.2:c.816G>A, NM_001354833.1:c.816G>A, NM_001354832.2:c.858G>A, NM_001354832.1:c.858G>A, XM_047427565.1:c.858G>A

Select item 14766019858.

rs1476601985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:7001088 (GRCh38)
11:7022319 (GRCh37)
Canonical SPDI:: NC_000011.10:7001087:G:A
Gene:: ZNF214 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.7001088G>A, NC_000011.9:g.7022319G>A, XM_006718309.5:c.553C>T, XM_006718309.4:c.553C>T, XM_006718309.3:c.553C>T, XM_006718309.2:c.553C>T, XM_006718309.1:c.553C>T, NM_013249.4:c.595C>T, NM_013249.3:c.595C>T, NM_013249.2:c.595C>T, XM_011520357.4:c.553C>T, XM_011520357.3:c.553C>T, XM_011520357.2:c.553C>T, XM_011520357.1:c.553C>T, XM_017018269.3:c.553C>T, XM_017018269.2:c.553C>T, XM_017018269.1:c.553C>T, NM_001354831.2:c.595C>T, NM_001354831.1:c.595C>T, NM_001354830.2:c.628C>T, NM_001354830.1:c.628C>T, NM_001354833.2:c.553C>T, NM_001354833.1:c.553C>T, NM_001354832.2:c.595C>T, NM_001354832.1:c.595C>T, XM_047427565.1:c.595C>T, XP_006718372.1:p.Gln185Ter, NP_037381.2:p.Gln199Ter, XP_011518659.1:p.Gln185Ter, XP_016873758.1:p.Gln185Ter, NP_001341760.1:p.Gln199Ter, NP_001341759.1:p.Gln210Ter, NP_001341762.1:p.Gln185Ter, NP_001341761.1:p.Gln199Ter, XP_047283521.1:p.Gln199Ter

Select item 14741962759.

rs1474196275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:7001156 (GRCh38)
11:7022387 (GRCh37)
Canonical SPDI:: NC_000011.10:7001155:A:C
Gene:: ZNF214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.7001156A>C, NC_000011.9:g.7022387A>C, XM_006718309.5:c.485T>G, XM_006718309.4:c.485T>G, XM_006718309.3:c.485T>G, XM_006718309.2:c.485T>G, XM_006718309.1:c.485T>G, NM_013249.4:c.527T>G, NM_013249.3:c.527T>G, NM_013249.2:c.527T>G, XM_011520357.4:c.485T>G, XM_011520357.3:c.485T>G, XM_011520357.2:c.485T>G, XM_011520357.1:c.485T>G, XM_017018269.3:c.485T>G, XM_017018269.2:c.485T>G, XM_017018269.1:c.485T>G, NM_001354831.2:c.527T>G, NM_001354831.1:c.527T>G, NM_001354830.2:c.560T>G, NM_001354830.1:c.560T>G, NM_001354833.2:c.485T>G, NM_001354833.1:c.485T>G, NM_001354832.2:c.527T>G, NM_001354832.1:c.527T>G, XM_047427565.1:c.527T>G, XP_006718372.1:p.Leu162Arg, NP_037381.2:p.Leu176Arg, XP_011518659.1:p.Leu162Arg, XP_016873758.1:p.Leu162Arg, NP_001341760.1:p.Leu176Arg, NP_001341759.1:p.Leu187Arg, NP_001341762.1:p.Leu162Arg, NP_001341761.1:p.Leu176Arg, XP_047283521.1:p.Leu176Arg

Select item 146918989610.

rs1469189896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7001233 (GRCh38)
11:7022464 (GRCh37)
Canonical SPDI:: NC_000011.10:7001232:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7001233A>G, NC_000011.9:g.7022464A>G, XM_006718309.5:c.408T>C, XM_006718309.4:c.408T>C, XM_006718309.3:c.408T>C, XM_006718309.2:c.408T>C, XM_006718309.1:c.408T>C, NM_013249.4:c.450T>C, NM_013249.3:c.450T>C, NM_013249.2:c.450T>C, XM_011520357.4:c.408T>C, XM_011520357.3:c.408T>C, XM_011520357.2:c.408T>C, XM_011520357.1:c.408T>C, XM_017018269.3:c.408T>C, XM_017018269.2:c.408T>C, XM_017018269.1:c.408T>C, NM_001354831.2:c.450T>C, NM_001354831.1:c.450T>C, NM_001354830.2:c.483T>C, NM_001354830.1:c.483T>C, NM_001354833.2:c.408T>C, NM_001354833.1:c.408T>C, NM_001354832.2:c.450T>C, NM_001354832.1:c.450T>C, XM_047427565.1:c.450T>C

Select item 146687775611.

rs1466877756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7000480 (GRCh38)
11:7021711 (GRCh37)
Canonical SPDI:: NC_000011.10:7000479:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.7000480A>G, NC_000011.9:g.7021711A>G, XM_006718309.5:c.1161T>C, XM_006718309.4:c.1161T>C, XM_006718309.3:c.1161T>C, XM_006718309.2:c.1161T>C, XM_006718309.1:c.1161T>C, NM_013249.4:c.1203T>C, NM_013249.3:c.1203T>C, NM_013249.2:c.1203T>C, XM_011520357.4:c.1161T>C, XM_011520357.3:c.1161T>C, XM_011520357.2:c.1161T>C, XM_011520357.1:c.1161T>C, XM_017018269.3:c.1161T>C, XM_017018269.2:c.1161T>C, XM_017018269.1:c.1161T>C, NM_001354831.2:c.1203T>C, NM_001354831.1:c.1203T>C, NM_001354830.2:c.1236T>C, NM_001354830.1:c.1236T>C, NM_001354833.2:c.1161T>C, NM_001354833.1:c.1161T>C, NM_001354832.2:c.1203T>C, NM_001354832.1:c.1203T>C, XM_047427565.1:c.1203T>C

Select item 146579614512.

rs1465796145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6999990 (GRCh38)
11:7021221 (GRCh37)
Canonical SPDI:: NC_000011.10:6999989:G:A
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6999990G>A, NC_000011.9:g.7021221G>A, XM_006718309.5:c.1651C>T, XM_006718309.4:c.1651C>T, XM_006718309.3:c.1651C>T, XM_006718309.2:c.1651C>T, XM_006718309.1:c.1651C>T, NM_013249.4:c.1693C>T, NM_013249.3:c.1693C>T, NM_013249.2:c.1693C>T, XM_011520357.4:c.1651C>T, XM_011520357.3:c.1651C>T, XM_011520357.2:c.1651C>T, XM_011520357.1:c.1651C>T, XM_017018269.3:c.1651C>T, XM_017018269.2:c.1651C>T, XM_017018269.1:c.1651C>T, NM_001354831.2:c.1693C>T, NM_001354831.1:c.1693C>T, NM_001354830.2:c.1726C>T, NM_001354830.1:c.1726C>T, NM_001354833.2:c.1651C>T, NM_001354833.1:c.1651C>T, NM_001354832.2:c.1693C>T, NM_001354832.1:c.1693C>T, XM_047427565.1:c.1693C>T, XP_006718372.1:p.His551Tyr, NP_037381.2:p.His565Tyr, XP_011518659.1:p.His551Tyr, XP_016873758.1:p.His551Tyr, NP_001341760.1:p.His565Tyr, NP_001341759.1:p.His576Tyr, NP_001341762.1:p.His551Tyr, NP_001341761.1:p.His565Tyr, XP_047283521.1:p.His565Tyr

Select item 146544119013.

rs1465441190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:7000719 (GRCh38)
11:7021950 (GRCh37)
Canonical SPDI:: NC_000011.10:7000718:G:A
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.7000719G>A, NC_000011.9:g.7021950G>A, XM_006718309.5:c.922C>T, XM_006718309.4:c.922C>T, XM_006718309.3:c.922C>T, XM_006718309.2:c.922C>T, XM_006718309.1:c.922C>T, NM_013249.4:c.964C>T, NM_013249.3:c.964C>T, NM_013249.2:c.964C>T, XM_011520357.4:c.922C>T, XM_011520357.3:c.922C>T, XM_011520357.2:c.922C>T, XM_011520357.1:c.922C>T, XM_017018269.3:c.922C>T, XM_017018269.2:c.922C>T, XM_017018269.1:c.922C>T, NM_001354831.2:c.964C>T, NM_001354831.1:c.964C>T, NM_001354830.2:c.997C>T, NM_001354830.1:c.997C>T, NM_001354833.2:c.922C>T, NM_001354833.1:c.922C>T, NM_001354832.2:c.964C>T, NM_001354832.1:c.964C>T, XM_047427565.1:c.964C>T, XP_006718372.1:p.Gln308Ter, NP_037381.2:p.Gln322Ter, XP_011518659.1:p.Gln308Ter, XP_016873758.1:p.Gln308Ter, NP_001341760.1:p.Gln322Ter, NP_001341759.1:p.Gln333Ter, NP_001341762.1:p.Gln308Ter, NP_001341761.1:p.Gln322Ter, XP_047283521.1:p.Gln322Ter

Select item 146488324514.

rs1464883245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:7000248 (GRCh38)
11:7021479 (GRCh37)
Canonical SPDI:: NC_000011.10:7000247:A:G
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.7000248A>G, NC_000011.9:g.7021479A>G, XM_006718309.5:c.1393T>C, XM_006718309.4:c.1393T>C, XM_006718309.3:c.1393T>C, XM_006718309.2:c.1393T>C, XM_006718309.1:c.1393T>C, NM_013249.4:c.1435T>C, NM_013249.3:c.1435T>C, NM_013249.2:c.1435T>C, XM_011520357.4:c.1393T>C, XM_011520357.3:c.1393T>C, XM_011520357.2:c.1393T>C, XM_011520357.1:c.1393T>C, XM_017018269.3:c.1393T>C, XM_017018269.2:c.1393T>C, XM_017018269.1:c.1393T>C, NM_001354831.2:c.1435T>C, NM_001354831.1:c.1435T>C, NM_001354830.2:c.1468T>C, NM_001354830.1:c.1468T>C, NM_001354833.2:c.1393T>C, NM_001354833.1:c.1393T>C, NM_001354832.2:c.1435T>C, NM_001354832.1:c.1435T>C, XM_047427565.1:c.1435T>C, XP_006718372.1:p.Phe465Leu, NP_037381.2:p.Phe479Leu, XP_011518659.1:p.Phe465Leu, XP_016873758.1:p.Phe465Leu, NP_001341760.1:p.Phe479Leu, NP_001341759.1:p.Phe490Leu, NP_001341762.1:p.Phe465Leu, NP_001341761.1:p.Phe479Leu, XP_047283521.1:p.Phe479Leu

Select item 146448331815.

rs1464483318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:7002733 (GRCh38)
11:7023964 (GRCh37)
Canonical SPDI:: NC_000011.10:7002732:T:C
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.7002733T>C, NC_000011.9:g.7023964T>C, XM_006718309.5:c.65A>G, XM_006718309.4:c.65A>G, XM_006718309.3:c.65A>G, XM_006718309.2:c.65A>G, XM_006718309.1:c.65A>G, NM_013249.4:c.103A>G, NM_013249.3:c.103A>G, NM_013249.2:c.103A>G, XM_011520357.4:c.65A>G, XM_011520357.3:c.65A>G, XM_011520357.2:c.65A>G, XM_011520357.1:c.65A>G, XM_017018269.3:c.65A>G, XM_017018269.2:c.65A>G, XM_017018269.1:c.65A>G, NM_001354831.2:c.103A>G, NM_001354831.1:c.103A>G, NM_001354830.2:c.136A>G, NM_001354830.1:c.136A>G, NM_001354833.2:c.65A>G, NM_001354833.1:c.65A>G, NM_001354832.2:c.103A>G, NM_001354832.1:c.103A>G, XM_047427565.1:c.103A>G, XP_006718372.1:p.Glu22Gly, NP_037381.2:p.Asn35Asp, XP_011518659.1:p.Glu22Gly, XP_016873758.1:p.Glu22Gly, NP_001341760.1:p.Asn35Asp, NP_001341759.1:p.Asn46Asp, NP_001341762.1:p.Glu22Gly, NP_001341761.1:p.Asn35Asp, XP_047283521.1:p.Asn35Asp

Select item 146240112716.

rs1462401127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:7001343 (GRCh38)
11:7022574 (GRCh37)
Canonical SPDI:: NC_000011.10:7001342:G:C
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7001343G>C, NC_000011.9:g.7022574G>C, XM_006718309.5:c.298C>G, XM_006718309.4:c.298C>G, XM_006718309.3:c.298C>G, XM_006718309.2:c.298C>G, XM_006718309.1:c.298C>G, NM_013249.4:c.340C>G, NM_013249.3:c.340C>G, NM_013249.2:c.340C>G, XM_011520357.4:c.298C>G, XM_011520357.3:c.298C>G, XM_011520357.2:c.298C>G, XM_011520357.1:c.298C>G, XM_017018269.3:c.298C>G, XM_017018269.2:c.298C>G, XM_017018269.1:c.298C>G, NM_001354831.2:c.340C>G, NM_001354831.1:c.340C>G, NM_001354830.2:c.373C>G, NM_001354830.1:c.373C>G, NM_001354833.2:c.298C>G, NM_001354833.1:c.298C>G, NM_001354832.2:c.340C>G, NM_001354832.1:c.340C>G, XM_047427565.1:c.340C>G, XP_006718372.1:p.Pro100Ala, NP_037381.2:p.Pro114Ala, XP_011518659.1:p.Pro100Ala, XP_016873758.1:p.Pro100Ala, NP_001341760.1:p.Pro114Ala, NP_001341759.1:p.Pro125Ala, NP_001341762.1:p.Pro100Ala, NP_001341761.1:p.Pro114Ala, XP_047283521.1:p.Pro114Ala

Select item 145894841117.

rs1458948411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:7000288 (GRCh38)
11:7021519 (GRCh37)
Canonical SPDI:: NC_000011.10:7000287:T:C
Gene:: ZNF214 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.7000288T>C, NC_000011.9:g.7021519T>C, XM_006718309.5:c.1353A>G, XM_006718309.4:c.1353A>G, XM_006718309.3:c.1353A>G, XM_006718309.2:c.1353A>G, XM_006718309.1:c.1353A>G, NM_013249.4:c.1395A>G, NM_013249.3:c.1395A>G, NM_013249.2:c.1395A>G, XM_011520357.4:c.1353A>G, XM_011520357.3:c.1353A>G, XM_011520357.2:c.1353A>G, XM_011520357.1:c.1353A>G, XM_017018269.3:c.1353A>G, XM_017018269.2:c.1353A>G, XM_017018269.1:c.1353A>G, NM_001354831.2:c.1395A>G, NM_001354831.1:c.1395A>G, NM_001354830.2:c.1428A>G, NM_001354830.1:c.1428A>G, NM_001354833.2:c.1353A>G, NM_001354833.1:c.1353A>G, NM_001354832.2:c.1395A>G, NM_001354832.1:c.1395A>G, XM_047427565.1:c.1395A>G

Select item 145762401918.

rs1457624019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:7000586 (GRCh38)
11:7021817 (GRCh37)
Canonical SPDI:: NC_000011.10:7000585:C:G,NC_000011.10:7000585:C:T
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.7000586C>G, NC_000011.10:g.7000586C>T, NC_000011.9:g.7021817C>G, NC_000011.9:g.7021817C>T, XM_006718309.5:c.1055G>C, XM_006718309.5:c.1055G>A, XM_006718309.4:c.1055G>C, XM_006718309.4:c.1055G>A, XM_006718309.3:c.1055G>C, XM_006718309.3:c.1055G>A, XM_006718309.2:c.1055G>C, XM_006718309.2:c.1055G>A, XM_006718309.1:c.1055G>C, XM_006718309.1:c.1055G>A, NM_013249.4:c.1097G>C, NM_013249.4:c.1097G>A, NM_013249.3:c.1097G>C, NM_013249.3:c.1097G>A, NM_013249.2:c.1097G>C, NM_013249.2:c.1097G>A, XM_011520357.4:c.1055G>C, XM_011520357.4:c.1055G>A, XM_011520357.3:c.1055G>C, XM_011520357.3:c.1055G>A, XM_011520357.2:c.1055G>C, XM_011520357.2:c.1055G>A, XM_011520357.1:c.1055G>C, XM_011520357.1:c.1055G>A, XM_017018269.3:c.1055G>C, XM_017018269.3:c.1055G>A, XM_017018269.2:c.1055G>C, XM_017018269.2:c.1055G>A, XM_017018269.1:c.1055G>C, XM_017018269.1:c.1055G>A, NM_001354831.2:c.1097G>C, NM_001354831.2:c.1097G>A, NM_001354831.1:c.1097G>C, NM_001354831.1:c.1097G>A, NM_001354830.2:c.1130G>C, NM_001354830.2:c.1130G>A, NM_001354830.1:c.1130G>C, NM_001354830.1:c.1130G>A, NM_001354833.2:c.1055G>C, NM_001354833.2:c.1055G>A, NM_001354833.1:c.1055G>C, NM_001354833.1:c.1055G>A, NM_001354832.2:c.1097G>C, NM_001354832.2:c.1097G>A, NM_001354832.1:c.1097G>C, NM_001354832.1:c.1097G>A, XM_047427565.1:c.1097G>C, XM_047427565.1:c.1097G>A, XP_006718372.1:p.Ser352Thr, XP_006718372.1:p.Ser352Asn, NP_037381.2:p.Ser366Thr, NP_037381.2:p.Ser366Asn, XP_011518659.1:p.Ser352Thr, XP_011518659.1:p.Ser352Asn, XP_016873758.1:p.Ser352Thr, XP_016873758.1:p.Ser352Asn, NP_001341760.1:p.Ser366Thr, NP_001341760.1:p.Ser366Asn, NP_001341759.1:p.Ser377Thr, NP_001341759.1:p.Ser377Asn, NP_001341762.1:p.Ser352Thr, NP_001341762.1:p.Ser352Asn, NP_001341761.1:p.Ser366Thr, NP_001341761.1:p.Ser366Asn, XP_047283521.1:p.Ser366Thr, XP_047283521.1:p.Ser366Asn

Select item 145624864319.

rs1456248643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:7000112 (GRCh38)
11:7021343 (GRCh37)
Canonical SPDI:: NC_000011.10:7000111:T:G
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.7000112T>G, NC_000011.9:g.7021343T>G, XM_006718309.5:c.1529A>C, XM_006718309.4:c.1529A>C, XM_006718309.3:c.1529A>C, XM_006718309.2:c.1529A>C, XM_006718309.1:c.1529A>C, NM_013249.4:c.1571A>C, NM_013249.3:c.1571A>C, NM_013249.2:c.1571A>C, XM_011520357.4:c.1529A>C, XM_011520357.3:c.1529A>C, XM_011520357.2:c.1529A>C, XM_011520357.1:c.1529A>C, XM_017018269.3:c.1529A>C, XM_017018269.2:c.1529A>C, XM_017018269.1:c.1529A>C, NM_001354831.2:c.1571A>C, NM_001354831.1:c.1571A>C, NM_001354830.2:c.1604A>C, NM_001354830.1:c.1604A>C, NM_001354833.2:c.1529A>C, NM_001354833.1:c.1529A>C, NM_001354832.2:c.1571A>C, NM_001354832.1:c.1571A>C, XM_047427565.1:c.1571A>C, XP_006718372.1:p.Lys510Thr, NP_037381.2:p.Lys524Thr, XP_011518659.1:p.Lys510Thr, XP_016873758.1:p.Lys510Thr, NP_001341760.1:p.Lys524Thr, NP_001341759.1:p.Lys535Thr, NP_001341762.1:p.Lys510Thr, NP_001341761.1:p.Lys524Thr, XP_047283521.1:p.Lys524Thr

Select item 145593676520.

rs1455936765 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:7000552 (GRCh38)
11:7021783 (GRCh37)
Canonical SPDI:: NC_000011.10:7000547:CTCTCT:CTCT
Gene:: ZNF214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.7000548CT[2], NC_000011.9:g.7021779CT[2], XM_006718309.5:c.1092_1093del, XM_006718309.4:c.1092_1093del, XM_006718309.3:c.1092_1093del, XM_006718309.2:c.1092_1093del, XM_006718309.1:c.1092_1093del, NM_013249.4:c.1134_1135del, NM_013249.3:c.1134_1135del, NM_013249.2:c.1134_1135del, XM_011520357.4:c.1092_1093del, XM_011520357.3:c.1092_1093del, XM_011520357.2:c.1092_1093del, XM_011520357.1:c.1092_1093del, XM_017018269.3:c.1092_1093del, XM_017018269.2:c.1092_1093del, XM_017018269.1:c.1092_1093del, NM_001354831.2:c.1134_1135del, NM_001354831.1:c.1134_1135del, NM_001354830.2:c.1167_1168del, NM_001354830.1:c.1167_1168del, NM_001354833.2:c.1092_1093del, NM_001354833.1:c.1092_1093del, NM_001354832.2:c.1134_1135del, NM_001354832.1:c.1134_1135del, XM_047427565.1:c.1134_1135del, XP_006718372.1:p.Arg364fs, NP_037381.2:p.Arg378fs, XP_011518659.1:p.Arg364fs, XP_016873758.1:p.Arg364fs, NP_001341760.1:p.Arg378fs, NP_001341759.1:p.Arg389fs, NP_001341762.1:p.Arg364fs, NP_001341761.1:p.Arg378fs, XP_047283521.1:p.Arg378fs

<< First< Prev

Page of 32

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 637

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity