SNP Links for Protein (Select 1018191521) - SNP

Links from Protein

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Select item 14893627551.

rs1489362755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:36638725 (GRCh38)
19:37129627 (GRCh37)
Canonical SPDI:: NC_000019.10:36638724:A:C
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36638725A>C, NC_000019.9:g.37129627A>C, NM_153257.5:c.1620T>G, NM_153257.4:c.1620T>G, NM_153257.3:c.1620T>G, NM_153257.2:c.1620T>G, NM_001297623.3:c.1551T>G, NM_001297623.2:c.1551T>G, NM_001297623.1:c.1551T>G, XM_011527486.3:c.1239T>G, XM_011527486.2:c.1239T>G, XM_011527486.1:c.1239T>G, NM_001322828.2:c.1356T>G, NM_001322828.1:c.1356T>G, NM_001322821.2:c.1602T>G, NM_001322821.1:c.1602T>G, NM_001322825.2:c.1527T>G, NM_001322825.1:c.1527T>G, NM_001322823.2:c.1527T>G, NM_001322823.1:c.1527T>G, NM_001322827.2:c.1458T>G, NM_001322827.1:c.1458T>G, NM_001322826.2:c.1458T>G, NM_001322826.1:c.1458T>G, XM_047439680.1:c.1239T>G, NP_694989.2:p.His540Gln, NP_001284552.1:p.His517Gln, XP_011525788.1:p.His413Gln, NP_001309757.1:p.His452Gln, NP_001309750.1:p.His534Gln, NP_001309754.1:p.His509Gln, NP_001309752.1:p.His509Gln, NP_001309756.1:p.His486Gln, NP_001309755.1:p.His486Gln, XP_047295636.1:p.His413Gln

Select item 14893116572.

rs1489311657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36639475 (GRCh38)
19:37130377 (GRCh37)
Canonical SPDI:: NC_000019.10:36639474:T:C
Gene:: ZNF461 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36639475T>C, NC_000019.9:g.37130377T>C, NM_153257.5:c.870A>G, NM_153257.4:c.870A>G, NM_153257.3:c.870A>G, NM_153257.2:c.870A>G, NM_001297623.3:c.801A>G, NM_001297623.2:c.801A>G, NM_001297623.1:c.801A>G, XM_011527486.3:c.489A>G, XM_011527486.2:c.489A>G, XM_011527486.1:c.489A>G, NM_001322828.2:c.606A>G, NM_001322828.1:c.606A>G, NM_001322821.2:c.852A>G, NM_001322821.1:c.852A>G, NM_001322825.2:c.777A>G, NM_001322825.1:c.777A>G, NM_001322823.2:c.777A>G, NM_001322823.1:c.777A>G, NM_001322827.2:c.708A>G, NM_001322827.1:c.708A>G, NM_001322826.2:c.708A>G, NM_001322826.1:c.708A>G, XM_047439680.1:c.489A>G

Select item 14892731223.

rs1489273122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36638988 (GRCh38)
19:37129890 (GRCh37)
Canonical SPDI:: NC_000019.10:36638987:A:G
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36638988A>G, NC_000019.9:g.37129890A>G, NM_153257.5:c.1357T>C, NM_153257.4:c.1357T>C, NM_153257.3:c.1357T>C, NM_153257.2:c.1357T>C, NM_001297623.3:c.1288T>C, NM_001297623.2:c.1288T>C, NM_001297623.1:c.1288T>C, XM_011527486.3:c.976T>C, XM_011527486.2:c.976T>C, XM_011527486.1:c.976T>C, NM_001322828.2:c.1093T>C, NM_001322828.1:c.1093T>C, NM_001322821.2:c.1339T>C, NM_001322821.1:c.1339T>C, NM_001322825.2:c.1264T>C, NM_001322825.1:c.1264T>C, NM_001322823.2:c.1264T>C, NM_001322823.1:c.1264T>C, NM_001322827.2:c.1195T>C, NM_001322827.1:c.1195T>C, NM_001322826.2:c.1195T>C, NM_001322826.1:c.1195T>C, XM_047439680.1:c.976T>C, NP_694989.2:p.Cys453Arg, NP_001284552.1:p.Cys430Arg, XP_011525788.1:p.Cys326Arg, NP_001309757.1:p.Cys365Arg, NP_001309750.1:p.Cys447Arg, NP_001309754.1:p.Cys422Arg, NP_001309752.1:p.Cys422Arg, NP_001309756.1:p.Cys399Arg, NP_001309755.1:p.Cys399Arg, XP_047295636.1:p.Cys326Arg

Select item 14866858144.

rs1486685814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:36643811 (GRCh38)
19:37134713 (GRCh37)
Canonical SPDI:: NC_000019.10:36643810:G:C
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.00046/8 (TOMMO)
HGVS:: NC_000019.10:g.36643811G>C, NC_000019.9:g.37134713G>C, NM_153257.5:c.284C>G, NM_153257.4:c.284C>G, NM_153257.3:c.284C>G, NM_153257.2:c.284C>G, NM_001322821.2:c.266C>G, NM_001322821.1:c.266C>G, NM_001322825.2:c.191C>G, NM_001322825.1:c.191C>G, NM_001322823.2:c.191C>G, NM_001322823.1:c.191C>G, NP_694989.2:p.Ala95Gly, NP_001309750.1:p.Ala89Gly, NP_001309754.1:p.Ala64Gly, NP_001309752.1:p.Ala64Gly

Select item 14866260155.

rs1486626015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36639735 (GRCh38)
19:37130637 (GRCh37)
Canonical SPDI:: NC_000019.10:36639734:G:A
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_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_000019.10:g.36639735G>A, NC_000019.9:g.37130637G>A, NM_153257.5:c.610C>T, NM_153257.4:c.610C>T, NM_153257.3:c.610C>T, NM_153257.2:c.610C>T, NM_001297623.3:c.541C>T, NM_001297623.2:c.541C>T, NM_001297623.1:c.541C>T, XM_011527486.3:c.229C>T, XM_011527486.2:c.229C>T, XM_011527486.1:c.229C>T, NM_001322828.2:c.346C>T, NM_001322828.1:c.346C>T, NM_001322821.2:c.592C>T, NM_001322821.1:c.592C>T, NM_001322825.2:c.517C>T, NM_001322825.1:c.517C>T, NM_001322823.2:c.517C>T, NM_001322823.1:c.517C>T, NM_001322827.2:c.448C>T, NM_001322827.1:c.448C>T, NM_001322826.2:c.448C>T, NM_001322826.1:c.448C>T, XM_047439680.1:c.229C>T, NP_694989.2:p.His204Tyr, NP_001284552.1:p.His181Tyr, XP_011525788.1:p.His77Tyr, NP_001309757.1:p.His116Tyr, NP_001309750.1:p.His198Tyr, NP_001309754.1:p.His173Tyr, NP_001309752.1:p.His173Tyr, NP_001309756.1:p.His150Tyr, NP_001309755.1:p.His150Tyr, XP_047295636.1:p.His77Tyr

Select item 14846480506.

rs1484648050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:36639899 (GRCh38)
19:37130801 (GRCh37)
Canonical SPDI:: NC_000019.10:36639898:C:A
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36639899C>A, NC_000019.9:g.37130801C>A, NM_153257.5:c.446G>T, NM_153257.4:c.446G>T, NM_153257.3:c.446G>T, NM_153257.2:c.446G>T, NM_001297623.3:c.377G>T, NM_001297623.2:c.377G>T, NM_001297623.1:c.377G>T, XM_011527486.3:c.65G>T, XM_011527486.2:c.65G>T, XM_011527486.1:c.65G>T, NM_001322828.2:c.182G>T, NM_001322828.1:c.182G>T, NM_001322821.2:c.428G>T, NM_001322821.1:c.428G>T, NM_001322825.2:c.353G>T, NM_001322825.1:c.353G>T, NM_001322823.2:c.353G>T, NM_001322823.1:c.353G>T, NM_001322827.2:c.284G>T, NM_001322827.1:c.284G>T, NM_001322826.2:c.284G>T, NM_001322826.1:c.284G>T, XM_047439680.1:c.65G>T, NP_694989.2:p.Cys149Phe, NP_001284552.1:p.Cys126Phe, XP_011525788.1:p.Cys22Phe, NP_001309757.1:p.Cys61Phe, NP_001309750.1:p.Cys143Phe, NP_001309754.1:p.Cys118Phe, NP_001309752.1:p.Cys118Phe, NP_001309756.1:p.Cys95Phe, NP_001309755.1:p.Cys95Phe, XP_047295636.1:p.Cys22Phe

Select item 14845020237.

rs1484502023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:36656472 (GRCh38)
19:37147374 (GRCh37)
Canonical SPDI:: NC_000019.10:36656471:C:A,NC_000019.10:36656471:C:T
Gene:: ZNF461 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.36656472C>A, NC_000019.10:g.36656472C>T, NC_000019.9:g.37147374C>A, NC_000019.9:g.37147374C>T, NM_153257.5:c.208G>T, NM_153257.5:c.208G>A, NM_153257.4:c.208G>T, NM_153257.4:c.208G>A, NM_153257.3:c.208G>T, NM_153257.3:c.208G>A, NM_153257.2:c.208G>T, NM_153257.2:c.208G>A, NM_001297623.3:c.208G>T, NM_001297623.3:c.208G>A, NM_001297623.2:c.208G>T, NM_001297623.2:c.208G>A, NM_001297623.1:c.208G>T, NM_001297623.1:c.208G>A, NM_001322828.2:c.13G>T, NM_001322828.2:c.13G>A, NM_001322828.1:c.13G>T, NM_001322828.1:c.13G>A, NM_001322821.2:c.190G>T, NM_001322821.2:c.190G>A, NM_001322821.1:c.190G>T, NM_001322821.1:c.190G>A, NM_001322825.2:c.115G>T, NM_001322825.2:c.115G>A, NM_001322825.1:c.115G>T, NM_001322825.1:c.115G>A, NM_001322823.2:c.115G>T, NM_001322823.2:c.115G>A, NM_001322823.1:c.115G>T, NM_001322823.1:c.115G>A, NM_001322827.2:c.115G>T, NM_001322827.2:c.115G>A, NM_001322827.1:c.115G>T, NM_001322827.1:c.115G>A, NM_001322826.2:c.115G>T, NM_001322826.2:c.115G>A, NM_001322826.1:c.115G>T, NM_001322826.1:c.115G>A, NP_694989.2:p.Glu70Ter, NP_694989.2:p.Glu70Lys, NP_001284552.1:p.Glu70Ter, NP_001284552.1:p.Glu70Lys, NP_001309757.1:p.Glu5Ter, NP_001309757.1:p.Glu5Lys, NP_001309750.1:p.Glu64Ter, NP_001309750.1:p.Glu64Lys, NP_001309754.1:p.Glu39Ter, NP_001309754.1:p.Glu39Lys, NP_001309752.1:p.Glu39Ter, NP_001309752.1:p.Glu39Lys, NP_001309756.1:p.Glu39Ter, NP_001309756.1:p.Glu39Lys, NP_001309755.1:p.Glu39Ter, NP_001309755.1:p.Glu39Lys

Select item 14843731058.

rs1484373105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:36639765 (GRCh38)
19:37130667 (GRCh37)
Canonical SPDI:: NC_000019.10:36639764:A:C,NC_000019.10:36639764:A:G
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000019.10:g.36639765A>C, NC_000019.10:g.36639765A>G, NC_000019.9:g.37130667A>C, NC_000019.9:g.37130667A>G, NM_153257.5:c.580T>G, NM_153257.5:c.580T>C, NM_153257.4:c.580T>G, NM_153257.4:c.580T>C, NM_153257.3:c.580T>G, NM_153257.3:c.580T>C, NM_153257.2:c.580T>G, NM_153257.2:c.580T>C, NM_001297623.3:c.511T>G, NM_001297623.3:c.511T>C, NM_001297623.2:c.511T>G, NM_001297623.2:c.511T>C, NM_001297623.1:c.511T>G, NM_001297623.1:c.511T>C, XM_011527486.3:c.199T>G, XM_011527486.3:c.199T>C, XM_011527486.2:c.199T>G, XM_011527486.2:c.199T>C, XM_011527486.1:c.199T>G, XM_011527486.1:c.199T>C, NM_001322828.2:c.316T>G, NM_001322828.2:c.316T>C, NM_001322828.1:c.316T>G, NM_001322828.1:c.316T>C, NM_001322821.2:c.562T>G, NM_001322821.2:c.562T>C, NM_001322821.1:c.562T>G, NM_001322821.1:c.562T>C, NM_001322825.2:c.487T>G, NM_001322825.2:c.487T>C, NM_001322825.1:c.487T>G, NM_001322825.1:c.487T>C, NM_001322823.2:c.487T>G, NM_001322823.2:c.487T>C, NM_001322823.1:c.487T>G, NM_001322823.1:c.487T>C, NM_001322827.2:c.418T>G, NM_001322827.2:c.418T>C, NM_001322827.1:c.418T>G, NM_001322827.1:c.418T>C, NM_001322826.2:c.418T>G, NM_001322826.2:c.418T>C, NM_001322826.1:c.418T>G, NM_001322826.1:c.418T>C, XM_047439680.1:c.199T>G, XM_047439680.1:c.199T>C, NP_694989.2:p.Cys194Gly, NP_694989.2:p.Cys194Arg, NP_001284552.1:p.Cys171Gly, NP_001284552.1:p.Cys171Arg, XP_011525788.1:p.Cys67Gly, XP_011525788.1:p.Cys67Arg, NP_001309757.1:p.Cys106Gly, NP_001309757.1:p.Cys106Arg, NP_001309750.1:p.Cys188Gly, NP_001309750.1:p.Cys188Arg, NP_001309754.1:p.Cys163Gly, NP_001309754.1:p.Cys163Arg, NP_001309752.1:p.Cys163Gly, NP_001309752.1:p.Cys163Arg, NP_001309756.1:p.Cys140Gly, NP_001309756.1:p.Cys140Arg, NP_001309755.1:p.Cys140Gly, NP_001309755.1:p.Cys140Arg, XP_047295636.1:p.Cys67Gly, XP_047295636.1:p.Cys67Arg

Select item 14841850139.

rs1484185013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:36656449 (GRCh38)
19:37147351 (GRCh37)
Canonical SPDI:: NC_000019.10:36656448:T:G
Gene:: ZNF461 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36656449T>G, NC_000019.9:g.37147351T>G, NM_153257.5:c.231A>C, NM_153257.4:c.231A>C, NM_153257.3:c.231A>C, NM_153257.2:c.231A>C, NM_001297623.3:c.231A>C, NM_001297623.2:c.231A>C, NM_001297623.1:c.231A>C, NM_001322828.2:c.36A>C, NM_001322828.1:c.36A>C, NM_001322821.2:c.213A>C, NM_001322821.1:c.213A>C, NM_001322825.2:c.138A>C, NM_001322825.1:c.138A>C, NM_001322823.2:c.138A>C, NM_001322823.1:c.138A>C, NM_001322827.2:c.138A>C, NM_001322827.1:c.138A>C, NM_001322826.2:c.138A>C, NM_001322826.1:c.138A>C

Select item 148344858910.

rs1483448589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36639810 (GRCh38)
19:37130712 (GRCh37)
Canonical SPDI:: NC_000019.10:36639809:T:C
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.36639810T>C, NC_000019.9:g.37130712T>C, NM_153257.5:c.535A>G, NM_153257.4:c.535A>G, NM_153257.3:c.535A>G, NM_153257.2:c.535A>G, NM_001297623.3:c.466A>G, NM_001297623.2:c.466A>G, NM_001297623.1:c.466A>G, XM_011527486.3:c.154A>G, XM_011527486.2:c.154A>G, XM_011527486.1:c.154A>G, NM_001322828.2:c.271A>G, NM_001322828.1:c.271A>G, NM_001322821.2:c.517A>G, NM_001322821.1:c.517A>G, NM_001322825.2:c.442A>G, NM_001322825.1:c.442A>G, NM_001322823.2:c.442A>G, NM_001322823.1:c.442A>G, NM_001322827.2:c.373A>G, NM_001322827.1:c.373A>G, NM_001322826.2:c.373A>G, NM_001322826.1:c.373A>G, XM_047439680.1:c.154A>G, NP_694989.2:p.Thr179Ala, NP_001284552.1:p.Thr156Ala, XP_011525788.1:p.Thr52Ala, NP_001309757.1:p.Thr91Ala, NP_001309750.1:p.Thr173Ala, NP_001309754.1:p.Thr148Ala, NP_001309752.1:p.Thr148Ala, NP_001309756.1:p.Thr125Ala, NP_001309755.1:p.Thr125Ala, XP_047295636.1:p.Thr52Ala

Select item 148230016211.

rs1482300162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:36638795 (GRCh38)
19:37129697 (GRCh37)
Canonical SPDI:: NC_000019.10:36638794:C:A,NC_000019.10:36638794:C:G,NC_000019.10:36638794:C:T
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36638795C>A, NC_000019.10:g.36638795C>G, NC_000019.10:g.36638795C>T, NC_000019.9:g.37129697C>A, NC_000019.9:g.37129697C>G, NC_000019.9:g.37129697C>T, NM_153257.5:c.1550G>T, NM_153257.5:c.1550G>C, NM_153257.5:c.1550G>A, NM_153257.4:c.1550G>T, NM_153257.4:c.1550G>C, NM_153257.4:c.1550G>A, NM_153257.3:c.1550G>T, NM_153257.3:c.1550G>C, NM_153257.3:c.1550G>A, NM_153257.2:c.1550G>T, NM_153257.2:c.1550G>C, NM_153257.2:c.1550G>A, NM_001297623.3:c.1481G>T, NM_001297623.3:c.1481G>C, NM_001297623.3:c.1481G>A, NM_001297623.2:c.1481G>T, NM_001297623.2:c.1481G>C, NM_001297623.2:c.1481G>A, NM_001297623.1:c.1481G>T, NM_001297623.1:c.1481G>C, NM_001297623.1:c.1481G>A, XM_011527486.3:c.1169G>T, XM_011527486.3:c.1169G>C, XM_011527486.3:c.1169G>A, XM_011527486.2:c.1169G>T, XM_011527486.2:c.1169G>C, XM_011527486.2:c.1169G>A, XM_011527486.1:c.1169G>T, XM_011527486.1:c.1169G>C, XM_011527486.1:c.1169G>A, NM_001322828.2:c.1286G>T, NM_001322828.2:c.1286G>C, NM_001322828.2:c.1286G>A, NM_001322828.1:c.1286G>T, NM_001322828.1:c.1286G>C, NM_001322828.1:c.1286G>A, NM_001322821.2:c.1532G>T, NM_001322821.2:c.1532G>C, NM_001322821.2:c.1532G>A, NM_001322821.1:c.1532G>T, NM_001322821.1:c.1532G>C, NM_001322821.1:c.1532G>A, NM_001322825.2:c.1457G>T, NM_001322825.2:c.1457G>C, NM_001322825.2:c.1457G>A, NM_001322825.1:c.1457G>T, NM_001322825.1:c.1457G>C, NM_001322825.1:c.1457G>A, NM_001322823.2:c.1457G>T, NM_001322823.2:c.1457G>C, NM_001322823.2:c.1457G>A, NM_001322823.1:c.1457G>T, NM_001322823.1:c.1457G>C, NM_001322823.1:c.1457G>A, NM_001322827.2:c.1388G>T, NM_001322827.2:c.1388G>C, NM_001322827.2:c.1388G>A, NM_001322827.1:c.1388G>T, NM_001322827.1:c.1388G>C, NM_001322827.1:c.1388G>A, NM_001322826.2:c.1388G>T, NM_001322826.2:c.1388G>C, NM_001322826.2:c.1388G>A, NM_001322826.1:c.1388G>T, NM_001322826.1:c.1388G>C, NM_001322826.1:c.1388G>A, XM_047439680.1:c.1169G>T, XM_047439680.1:c.1169G>C, XM_047439680.1:c.1169G>A, NP_694989.2:p.Arg517Ile, NP_694989.2:p.Arg517Thr, NP_694989.2:p.Arg517Lys, NP_001284552.1:p.Arg494Ile, NP_001284552.1:p.Arg494Thr, NP_001284552.1:p.Arg494Lys, XP_011525788.1:p.Arg390Ile, XP_011525788.1:p.Arg390Thr, XP_011525788.1:p.Arg390Lys, NP_001309757.1:p.Arg429Ile, NP_001309757.1:p.Arg429Thr, NP_001309757.1:p.Arg429Lys, NP_001309750.1:p.Arg511Ile, NP_001309750.1:p.Arg511Thr, NP_001309750.1:p.Arg511Lys, NP_001309754.1:p.Arg486Ile, NP_001309754.1:p.Arg486Thr, NP_001309754.1:p.Arg486Lys, NP_001309752.1:p.Arg486Ile, NP_001309752.1:p.Arg486Thr, NP_001309752.1:p.Arg486Lys, NP_001309756.1:p.Arg463Ile, NP_001309756.1:p.Arg463Thr, NP_001309756.1:p.Arg463Lys, NP_001309755.1:p.Arg463Ile, NP_001309755.1:p.Arg463Thr, NP_001309755.1:p.Arg463Lys, XP_047295636.1:p.Arg390Ile, XP_047295636.1:p.Arg390Thr, XP_047295636.1:p.Arg390Lys

Select item 148076725812.

rs1480767258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36639692 (GRCh38)
19:37130594 (GRCh37)
Canonical SPDI:: NC_000019.10:36639691:A:G
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36639692A>G, NC_000019.9:g.37130594A>G, NM_153257.5:c.653T>C, NM_153257.4:c.653T>C, NM_153257.3:c.653T>C, NM_153257.2:c.653T>C, NM_001297623.3:c.584T>C, NM_001297623.2:c.584T>C, NM_001297623.1:c.584T>C, XM_011527486.3:c.272T>C, XM_011527486.2:c.272T>C, XM_011527486.1:c.272T>C, NM_001322828.2:c.389T>C, NM_001322828.1:c.389T>C, NM_001322821.2:c.635T>C, NM_001322821.1:c.635T>C, NM_001322825.2:c.560T>C, NM_001322825.1:c.560T>C, NM_001322823.2:c.560T>C, NM_001322823.1:c.560T>C, NM_001322827.2:c.491T>C, NM_001322827.1:c.491T>C, NM_001322826.2:c.491T>C, NM_001322826.1:c.491T>C, XM_047439680.1:c.272T>C, NP_694989.2:p.Leu218Pro, NP_001284552.1:p.Leu195Pro, XP_011525788.1:p.Leu91Pro, NP_001309757.1:p.Leu130Pro, NP_001309750.1:p.Leu212Pro, NP_001309754.1:p.Leu187Pro, NP_001309752.1:p.Leu187Pro, NP_001309756.1:p.Leu164Pro, NP_001309755.1:p.Leu164Pro, XP_047295636.1:p.Leu91Pro

Select item 147971954713.

rs1479719547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36658346 (GRCh38)
19:37149248 (GRCh37)
Canonical SPDI:: NC_000019.10:36658345:A:G
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
HGVS:: NC_000019.10:g.36658346A>G, NC_000019.9:g.37149248A>G, NM_153257.5:c.89T>C, NM_153257.4:c.89T>C, NM_153257.3:c.89T>C, NM_153257.2:c.89T>C, NM_001297623.3:c.89T>C, NM_001297623.2:c.89T>C, NM_001297623.1:c.89T>C, NM_001322828.2:c.-205T>C, NM_001322828.1:c.-205T>C, NM_001322821.2:c.71T>C, NM_001322821.1:c.71T>C, NM_001322825.2:c.33T>C, NM_001322825.1:c.33T>C, NM_001322823.2:c.33T>C, NM_001322823.1:c.33T>C, NM_001322827.2:c.33T>C, NM_001322827.1:c.33T>C, NM_001322826.2:c.33T>C, NM_001322826.1:c.33T>C, NP_694989.2:p.Leu30Ser, NP_001284552.1:p.Leu30Ser, NP_001309750.1:p.Leu24Ser

Select item 147872267914.

rs1478722679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:36639352 (GRCh38)
19:37130254 (GRCh37)
Canonical SPDI:: NC_000019.10:36639351:A:G,NC_000019.10:36639351:A:T
Gene:: ZNF461 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.36639352A>G, NC_000019.10:g.36639352A>T, NC_000019.9:g.37130254A>G, NC_000019.9:g.37130254A>T, NM_153257.5:c.993T>C, NM_153257.5:c.993T>A, NM_153257.4:c.993T>C, NM_153257.4:c.993T>A, NM_153257.3:c.993T>C, NM_153257.3:c.993T>A, NM_153257.2:c.993T>C, NM_153257.2:c.993T>A, NM_001297623.3:c.924T>C, NM_001297623.3:c.924T>A, NM_001297623.2:c.924T>C, NM_001297623.2:c.924T>A, NM_001297623.1:c.924T>C, NM_001297623.1:c.924T>A, XM_011527486.3:c.612T>C, XM_011527486.3:c.612T>A, XM_011527486.2:c.612T>C, XM_011527486.2:c.612T>A, XM_011527486.1:c.612T>C, XM_011527486.1:c.612T>A, NM_001322828.2:c.729T>C, NM_001322828.2:c.729T>A, NM_001322828.1:c.729T>C, NM_001322828.1:c.729T>A, NM_001322821.2:c.975T>C, NM_001322821.2:c.975T>A, NM_001322821.1:c.975T>C, NM_001322821.1:c.975T>A, NM_001322825.2:c.900T>C, NM_001322825.2:c.900T>A, NM_001322825.1:c.900T>C, NM_001322825.1:c.900T>A, NM_001322823.2:c.900T>C, NM_001322823.2:c.900T>A, NM_001322823.1:c.900T>C, NM_001322823.1:c.900T>A, NM_001322827.2:c.831T>C, NM_001322827.2:c.831T>A, NM_001322827.1:c.831T>C, NM_001322827.1:c.831T>A, NM_001322826.2:c.831T>C, NM_001322826.2:c.831T>A, NM_001322826.1:c.831T>C, NM_001322826.1:c.831T>A, XM_047439680.1:c.612T>C, XM_047439680.1:c.612T>A, NP_694989.2:p.Cys331Ter, NP_001284552.1:p.Cys308Ter, XP_011525788.1:p.Cys204Ter, NP_001309757.1:p.Cys243Ter, NP_001309750.1:p.Cys325Ter, NP_001309754.1:p.Cys300Ter, NP_001309752.1:p.Cys300Ter, NP_001309756.1:p.Cys277Ter, NP_001309755.1:p.Cys277Ter, XP_047295636.1:p.Cys204Ter

Select item 147778461515.

rs1477784615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36639259 (GRCh38)
19:37130161 (GRCh37)
Canonical SPDI:: NC_000019.10:36639258:A:G
Gene:: ZNF461 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36639259A>G, NC_000019.9:g.37130161A>G, NM_153257.5:c.1086T>C, NM_153257.4:c.1086T>C, NM_153257.3:c.1086T>C, NM_153257.2:c.1086T>C, NM_001297623.3:c.1017T>C, NM_001297623.2:c.1017T>C, NM_001297623.1:c.1017T>C, XM_011527486.3:c.705T>C, XM_011527486.2:c.705T>C, XM_011527486.1:c.705T>C, NM_001322828.2:c.822T>C, NM_001322828.1:c.822T>C, NM_001322821.2:c.1068T>C, NM_001322821.1:c.1068T>C, NM_001322825.2:c.993T>C, NM_001322825.1:c.993T>C, NM_001322823.2:c.993T>C, NM_001322823.1:c.993T>C, NM_001322827.2:c.924T>C, NM_001322827.1:c.924T>C, NM_001322826.2:c.924T>C, NM_001322826.1:c.924T>C, XM_047439680.1:c.705T>C

Select item 147775799916.

rs1477757999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36639707 (GRCh38)
19:37130609 (GRCh37)
Canonical SPDI:: NC_000019.10:36639706:G:A
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36639707G>A, NC_000019.9:g.37130609G>A, NM_153257.5:c.638C>T, NM_153257.4:c.638C>T, NM_153257.3:c.638C>T, NM_153257.2:c.638C>T, NM_001297623.3:c.569C>T, NM_001297623.2:c.569C>T, NM_001297623.1:c.569C>T, XM_011527486.3:c.257C>T, XM_011527486.2:c.257C>T, XM_011527486.1:c.257C>T, NM_001322828.2:c.374C>T, NM_001322828.1:c.374C>T, NM_001322821.2:c.620C>T, NM_001322821.1:c.620C>T, NM_001322825.2:c.545C>T, NM_001322825.1:c.545C>T, NM_001322823.2:c.545C>T, NM_001322823.1:c.545C>T, NM_001322827.2:c.476C>T, NM_001322827.1:c.476C>T, NM_001322826.2:c.476C>T, NM_001322826.1:c.476C>T, XM_047439680.1:c.257C>T, NP_694989.2:p.Thr213Ile, NP_001284552.1:p.Thr190Ile, XP_011525788.1:p.Thr86Ile, NP_001309757.1:p.Thr125Ile, NP_001309750.1:p.Thr207Ile, NP_001309754.1:p.Thr182Ile, NP_001309752.1:p.Thr182Ile, NP_001309756.1:p.Thr159Ile, NP_001309755.1:p.Thr159Ile, XP_047295636.1:p.Thr86Ile

Select item 147204264617.

rs1472042646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:36643849 (GRCh38)
19:37134751 (GRCh37)
Canonical SPDI:: NC_000019.10:36643848:A:C
Gene:: ZNF461 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.36643849A>C, NC_000019.9:g.37134751A>C, NM_153257.5:c.246T>G, NM_153257.4:c.246T>G, NM_153257.3:c.246T>G, NM_153257.2:c.246T>G, NM_001322821.2:c.228T>G, NM_001322821.1:c.228T>G, NM_001322825.2:c.153T>G, NM_001322825.1:c.153T>G, NM_001322823.2:c.153T>G, NM_001322823.1:c.153T>G

Select item 147168263618.

rs1471682636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36639426 (GRCh38)
19:37130328 (GRCh37)
Canonical SPDI:: NC_000019.10:36639425:C:T
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36639426C>T, NC_000019.9:g.37130328C>T, NM_153257.5:c.919G>A, NM_153257.4:c.919G>A, NM_153257.3:c.919G>A, NM_153257.2:c.919G>A, NM_001297623.3:c.850G>A, NM_001297623.2:c.850G>A, NM_001297623.1:c.850G>A, XM_011527486.3:c.538G>A, XM_011527486.2:c.538G>A, XM_011527486.1:c.538G>A, NM_001322828.2:c.655G>A, NM_001322828.1:c.655G>A, NM_001322821.2:c.901G>A, NM_001322821.1:c.901G>A, NM_001322825.2:c.826G>A, NM_001322825.1:c.826G>A, NM_001322823.2:c.826G>A, NM_001322823.1:c.826G>A, NM_001322827.2:c.757G>A, NM_001322827.1:c.757G>A, NM_001322826.2:c.757G>A, NM_001322826.1:c.757G>A, XM_047439680.1:c.538G>A, NP_694989.2:p.Gly307Arg, NP_001284552.1:p.Gly284Arg, XP_011525788.1:p.Gly180Arg, NP_001309757.1:p.Gly219Arg, NP_001309750.1:p.Gly301Arg, NP_001309754.1:p.Gly276Arg, NP_001309752.1:p.Gly276Arg, NP_001309756.1:p.Gly253Arg, NP_001309755.1:p.Gly253Arg, XP_047295636.1:p.Gly180Arg

Select item 146959881619.

rs1469598816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36638804 (GRCh38)
19:37129706 (GRCh37)
Canonical SPDI:: NC_000019.10:36638803:T:C
Gene:: ZNF461 (Varview)
Functional Consequence:: missense_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_000019.10:g.36638804T>C, NC_000019.9:g.37129706T>C, NM_153257.5:c.1541A>G, NM_153257.4:c.1541A>G, NM_153257.3:c.1541A>G, NM_153257.2:c.1541A>G, NM_001297623.3:c.1472A>G, NM_001297623.2:c.1472A>G, NM_001297623.1:c.1472A>G, XM_011527486.3:c.1160A>G, XM_011527486.2:c.1160A>G, XM_011527486.1:c.1160A>G, NM_001322828.2:c.1277A>G, NM_001322828.1:c.1277A>G, NM_001322821.2:c.1523A>G, NM_001322821.1:c.1523A>G, NM_001322825.2:c.1448A>G, NM_001322825.1:c.1448A>G, NM_001322823.2:c.1448A>G, NM_001322823.1:c.1448A>G, NM_001322827.2:c.1379A>G, NM_001322827.1:c.1379A>G, NM_001322826.2:c.1379A>G, NM_001322826.1:c.1379A>G, XM_047439680.1:c.1160A>G, NP_694989.2:p.His514Arg, NP_001284552.1:p.His491Arg, XP_011525788.1:p.His387Arg, NP_001309757.1:p.His426Arg, NP_001309750.1:p.His508Arg, NP_001309754.1:p.His483Arg, NP_001309752.1:p.His483Arg, NP_001309756.1:p.His460Arg, NP_001309755.1:p.His460Arg, XP_047295636.1:p.His387Arg

Select item 146730848520.

rs1467308485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36639439 (GRCh38)
19:37130341 (GRCh37)
Canonical SPDI:: NC_000019.10:36639438:T:C
Gene:: ZNF461 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36639439T>C, NC_000019.9:g.37130341T>C, NM_153257.5:c.906A>G, NM_153257.4:c.906A>G, NM_153257.3:c.906A>G, NM_153257.2:c.906A>G, NM_001297623.3:c.837A>G, NM_001297623.2:c.837A>G, NM_001297623.1:c.837A>G, XM_011527486.3:c.525A>G, XM_011527486.2:c.525A>G, XM_011527486.1:c.525A>G, NM_001322828.2:c.642A>G, NM_001322828.1:c.642A>G, NM_001322821.2:c.888A>G, NM_001322821.1:c.888A>G, NM_001322825.2:c.813A>G, NM_001322825.1:c.813A>G, NM_001322823.2:c.813A>G, NM_001322823.1:c.813A>G, NM_001322827.2:c.744A>G, NM_001322827.1:c.744A>G, NM_001322826.2:c.744A>G, NM_001322826.1:c.744A>G, XM_047439680.1:c.525A>G

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