SNP Links for Protein (Select 1205913889) - SNP

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Links from Protein

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Select item 14891944821.

rs1489194482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:19880698 (GRCh38)
22:19868221 (GRCh37)
Canonical SPDI:: NC_000022.11:19880697:G:A,NC_000022.11:19880697:G:C,NC_000022.11:19880697:G:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000022.11:g.19880698G>A, NC_000022.11:g.19880698G>C, NC_000022.11:g.19880698G>T, NC_000022.10:g.19868221G>A, NC_000022.10:g.19868221G>C, NC_000022.10:g.19868221G>T, NG_011835.1:g.66139C>T, NG_011835.1:g.66139C>G, NG_011835.1:g.66139C>A, NM_006440.5:c.1106C>T, NM_006440.5:c.1106C>G, NM_006440.5:c.1106C>A, NM_006440.4:c.1106C>T, NM_006440.4:c.1106C>G, NM_006440.4:c.1106C>A, NM_006440.3:c.1106C>T, NM_006440.3:c.1106C>G, NM_006440.3:c.1106C>A, NM_001352300.2:c.1103C>T, NM_001352300.2:c.1103C>G, NM_001352300.2:c.1103C>A, NM_001352300.1:c.1103C>T, NM_001352300.1:c.1103C>G, NM_001352300.1:c.1103C>A, NM_001352302.2:c.818C>T, NM_001352302.2:c.818C>G, NM_001352302.2:c.818C>A, NM_001352302.1:c.818C>T, NM_001352302.1:c.818C>G, NM_001352302.1:c.818C>A, NM_001352301.2:c.1016C>T, NM_001352301.2:c.1016C>G, NM_001352301.2:c.1016C>A, NM_001352301.1:c.1016C>T, NM_001352301.1:c.1016C>G, NM_001352301.1:c.1016C>A, NR_147957.2:n.1064C>T, NR_147957.2:n.1064C>G, NR_147957.2:n.1064C>A, NR_147957.1:n.1238C>T, NR_147957.1:n.1238C>G, NR_147957.1:n.1238C>A, NM_145748.1:c.1016C>T, NM_145748.1:c.1016C>G, NM_145748.1:c.1016C>A, NM_145747.1:c.818C>T, NM_145747.1:c.818C>G, NM_145747.1:c.818C>A, NP_006431.2:p.Pro369Leu, NP_006431.2:p.Pro369Arg, NP_006431.2:p.Pro369His, NP_001339229.1:p.Pro368Leu, NP_001339229.1:p.Pro368Arg, NP_001339229.1:p.Pro368His, NP_001339231.1:p.Pro273Leu, NP_001339231.1:p.Pro273Arg, NP_001339231.1:p.Pro273His, NP_001339230.1:p.Pro339Leu, NP_001339230.1:p.Pro339Arg, NP_001339230.1:p.Pro339His

Select item 14882943532.

rs1488294353 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:19918918 (GRCh38)
22:19906441 (GRCh37)
Canonical SPDI:: NC_000022.11:19918917:GG:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19918919del, NC_000022.10:g.19906442del, NG_011835.1:g.27919del, NM_006440.5:c.316del, NM_006440.4:c.316del, NM_006440.3:c.316del, NM_001282512.3:c.316del, NM_001282512.2:c.316del, NM_001282512.1:c.316del, NM_001352300.2:c.313del, NM_001352300.1:c.313del, NM_001352303.2:c.220del, NM_001352303.1:c.220del, NM_001352302.2:c.28del, NM_001352302.1:c.28del, NM_001352301.2:c.226del, NM_001352301.1:c.226del, NR_147957.2:n.274del, NR_147957.1:n.448del, NM_145748.1:c.226del, NM_145747.1:c.28del, NP_006431.2:p.Gly105_Leu106insTer, NP_001269441.1:p.Gly105_Leu106insTer, NP_001339229.1:p.Gly104_Leu105insTer, NP_001339232.1:p.Gly73_Leu74insTer, NP_001339231.1:p.Gly9_Leu10insTer, NP_001339230.1:p.Gly75_Leu76insTer

Select item 14862474173.

rs1486247417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19898048 (GRCh38)
22:19885571 (GRCh37)
Canonical SPDI:: NC_000022.11:19898047:G:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19898048G>T, NC_000022.10:g.19885571G>T, NG_011835.1:g.48789C>A, NM_006440.5:c.765C>A, NM_006440.4:c.765C>A, NM_006440.3:c.765C>A, NM_001282512.3:c.765C>A, NM_001282512.2:c.765C>A, NM_001282512.1:c.765C>A, NM_001352300.2:c.762C>A, NM_001352300.1:c.762C>A, NM_001352303.2:c.669C>A, NM_001352303.1:c.669C>A, NM_001352302.2:c.477C>A, NM_001352302.1:c.477C>A, NM_001352301.2:c.675C>A, NM_001352301.1:c.675C>A, NR_147957.2:n.723C>A, NR_147957.1:n.897C>A, NM_145748.1:c.675C>A, NM_145747.1:c.477C>A

Select item 14832662054.

rs1483266205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19918883 (GRCh38)
22:19906406 (GRCh37)
Canonical SPDI:: NC_000022.11:19918882:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19918883C>T, NC_000022.10:g.19906406C>T, NG_011835.1:g.27954G>A, NM_006440.5:c.351G>A, NM_006440.4:c.351G>A, NM_006440.3:c.351G>A, NM_001282512.3:c.351G>A, NM_001282512.2:c.351G>A, NM_001282512.1:c.351G>A, NM_001352300.2:c.348G>A, NM_001352300.1:c.348G>A, NM_001352303.2:c.255G>A, NM_001352303.1:c.255G>A, NM_001352302.2:c.63G>A, NM_001352302.1:c.63G>A, NM_001352301.2:c.261G>A, NM_001352301.1:c.261G>A, NR_147957.2:n.309G>A, NR_147957.1:n.483G>A, NM_145748.1:c.261G>A, NM_145747.1:c.63G>A

Select item 14817897765.

rs1481789776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19883384 (GRCh38)
22:19870907 (GRCh37)
Canonical SPDI:: NC_000022.11:19883383:C:G,NC_000022.11:19883383:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19883384C>G, NC_000022.11:g.19883384C>T, NC_000022.10:g.19870907C>G, NC_000022.10:g.19870907C>T, NG_011835.1:g.63453G>C, NG_011835.1:g.63453G>A, NM_006440.5:c.1027G>C, NM_006440.5:c.1027G>A, NM_006440.4:c.1027G>C, NM_006440.4:c.1027G>A, NM_006440.3:c.1027G>C, NM_006440.3:c.1027G>A, NM_001352300.2:c.1024G>C, NM_001352300.2:c.1024G>A, NM_001352300.1:c.1024G>C, NM_001352300.1:c.1024G>A, NM_001352302.2:c.739G>C, NM_001352302.2:c.739G>A, NM_001352302.1:c.739G>C, NM_001352302.1:c.739G>A, NM_001352301.2:c.937G>C, NM_001352301.2:c.937G>A, NM_001352301.1:c.937G>C, NM_001352301.1:c.937G>A, NR_147957.2:n.985G>C, NR_147957.2:n.985G>A, NR_147957.1:n.1159G>C, NR_147957.1:n.1159G>A, NM_145748.1:c.937G>C, NM_145748.1:c.937G>A, NM_145747.1:c.739G>C, NM_145747.1:c.739G>A, NP_006431.2:p.Val343Leu, NP_006431.2:p.Val343Met, NP_001339229.1:p.Val342Leu, NP_001339229.1:p.Val342Met, NP_001339231.1:p.Val247Leu, NP_001339231.1:p.Val247Met, NP_001339230.1:p.Val313Leu, NP_001339230.1:p.Val313Met

Select item 14793452316.

rs1479345231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19898044 (GRCh38)
22:19885567 (GRCh37)
Canonical SPDI:: NC_000022.11:19898043:C:G,NC_000022.11:19898043:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/2 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.19898044C>G, NC_000022.11:g.19898044C>T, NC_000022.10:g.19885567C>G, NC_000022.10:g.19885567C>T, NG_011835.1:g.48793G>C, NG_011835.1:g.48793G>A, NM_006440.5:c.769G>C, NM_006440.5:c.769G>A, NM_006440.4:c.769G>C, NM_006440.4:c.769G>A, NM_006440.3:c.769G>C, NM_006440.3:c.769G>A, NM_001282512.3:c.769G>C, NM_001282512.3:c.769G>A, NM_001282512.2:c.769G>C, NM_001282512.2:c.769G>A, NM_001282512.1:c.769G>C, NM_001282512.1:c.769G>A, NM_001352300.2:c.766G>C, NM_001352300.2:c.766G>A, NM_001352300.1:c.766G>C, NM_001352300.1:c.766G>A, NM_001352303.2:c.673G>C, NM_001352303.2:c.673G>A, NM_001352303.1:c.673G>C, NM_001352303.1:c.673G>A, NM_001352302.2:c.481G>C, NM_001352302.2:c.481G>A, NM_001352302.1:c.481G>C, NM_001352302.1:c.481G>A, NM_001352301.2:c.679G>C, NM_001352301.2:c.679G>A, NM_001352301.1:c.679G>C, NM_001352301.1:c.679G>A, NR_147957.2:n.727G>C, NR_147957.2:n.727G>A, NR_147957.1:n.901G>C, NR_147957.1:n.901G>A, NM_145748.1:c.679G>C, NM_145748.1:c.679G>A, NM_145747.1:c.481G>C, NM_145747.1:c.481G>A, NP_006431.2:p.Asp257His, NP_006431.2:p.Asp257Asn, NP_001269441.1:p.Asp257His, NP_001269441.1:p.Asp257Asn, NP_001339229.1:p.Asp256His, NP_001339229.1:p.Asp256Asn, NP_001339232.1:p.Asp225His, NP_001339232.1:p.Asp225Asn, NP_001339231.1:p.Asp161His, NP_001339231.1:p.Asp161Asn, NP_001339230.1:p.Asp227His, NP_001339230.1:p.Asp227Asn

Select item 14769890497.

rs1476989049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19880688 (GRCh38)
22:19868211 (GRCh37)
Canonical SPDI:: NC_000022.11:19880687:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.19880688G>A, NC_000022.10:g.19868211G>A, NG_011835.1:g.66149C>T, NM_006440.5:c.1116C>T, NM_006440.4:c.1116C>T, NM_006440.3:c.1116C>T, NM_001352300.2:c.1113C>T, NM_001352300.1:c.1113C>T, NM_001352302.2:c.828C>T, NM_001352302.1:c.828C>T, NM_001352301.2:c.1026C>T, NM_001352301.1:c.1026C>T, NR_147957.2:n.1074C>T, NR_147957.1:n.1248C>T, NM_145748.1:c.1026C>T, NM_145747.1:c.828C>T

Select item 14725607558.

rs1472560755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19895574 (GRCh38)
22:19883097 (GRCh37)
Canonical SPDI:: NC_000022.11:19895573:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.19895574G>A, NC_000022.10:g.19883097G>A, NG_011835.1:g.51263C>T, NM_006440.5:c.782C>T, NM_006440.4:c.782C>T, NM_006440.3:c.782C>T, NM_001282512.3:c.782C>T, NM_001282512.2:c.782C>T, NM_001282512.1:c.782C>T, NM_001352300.2:c.779C>T, NM_001352300.1:c.779C>T, NM_001352303.2:c.686C>T, NM_001352303.1:c.686C>T, NM_001352302.2:c.494C>T, NM_001352302.1:c.494C>T, NM_001352301.2:c.692C>T, NM_001352301.1:c.692C>T, NR_147957.2:n.740C>T, NR_147957.1:n.914C>T, NM_145748.1:c.692C>T, NM_145747.1:c.494C>T, NP_006431.2:p.Ser261Phe, NP_001269441.1:p.Ser261Phe, NP_001339229.1:p.Ser260Phe, NP_001339232.1:p.Ser229Phe, NP_001339231.1:p.Ser165Phe, NP_001339230.1:p.Ser231Phe

Select item 14696048019.

rs1469604801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19915817 (GRCh38)
22:19903340 (GRCh37)
Canonical SPDI:: NC_000022.11:19915816:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19915817G>A, NC_000022.10:g.19903340G>A, NG_011835.1:g.31020C>T, NM_006440.5:c.476C>T, NM_006440.4:c.476C>T, NM_006440.3:c.476C>T, NM_001282512.3:c.476C>T, NM_001282512.2:c.476C>T, NM_001282512.1:c.476C>T, NM_001352300.2:c.473C>T, NM_001352300.1:c.473C>T, NM_001352303.2:c.380C>T, NM_001352303.1:c.380C>T, NM_001352302.2:c.188C>T, NM_001352302.1:c.188C>T, NM_001352301.2:c.386C>T, NM_001352301.1:c.386C>T, NR_147957.2:n.434C>T, NR_147957.1:n.608C>T, NM_145748.1:c.386C>T, NM_145747.1:c.188C>T, NP_006431.2:p.Ala159Val, NP_001269441.1:p.Ala159Val, NP_001339229.1:p.Ala158Val, NP_001339232.1:p.Ala127Val, NP_001339231.1:p.Ala63Val, NP_001339230.1:p.Ala129Val

Select item 146830961610.

rs1468309616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:19880710 (GRCh38)
22:19868233 (GRCh37)
Canonical SPDI:: NC_000022.11:19880709:G:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19880710G>C, NC_000022.10:g.19868233G>C, NG_011835.1:g.66127C>G, NM_006440.5:c.1094C>G, NM_006440.4:c.1094C>G, NM_006440.3:c.1094C>G, NM_001352300.2:c.1091C>G, NM_001352300.1:c.1091C>G, NM_001352302.2:c.806C>G, NM_001352302.1:c.806C>G, NM_001352301.2:c.1004C>G, NM_001352301.1:c.1004C>G, NR_147957.2:n.1052C>G, NR_147957.1:n.1226C>G, NM_145748.1:c.1004C>G, NM_145747.1:c.806C>G, NP_006431.2:p.Pro365Arg, NP_001339229.1:p.Pro364Arg, NP_001339231.1:p.Pro269Arg, NP_001339230.1:p.Pro335Arg

Select item 145941319111.

rs1459413191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19915822 (GRCh38)
22:19903345 (GRCh37)
Canonical SPDI:: NC_000022.11:19915821:G:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19915822G>T, NC_000022.10:g.19903345G>T, NG_011835.1:g.31015C>A, NM_006440.5:c.471C>A, NM_006440.4:c.471C>A, NM_006440.3:c.471C>A, NM_001282512.3:c.471C>A, NM_001282512.2:c.471C>A, NM_001282512.1:c.471C>A, NM_001352300.2:c.468C>A, NM_001352300.1:c.468C>A, NM_001352303.2:c.375C>A, NM_001352303.1:c.375C>A, NM_001352302.2:c.183C>A, NM_001352302.1:c.183C>A, NM_001352301.2:c.381C>A, NM_001352301.1:c.381C>A, NR_147957.2:n.429C>A, NR_147957.1:n.603C>A, NM_145748.1:c.381C>A, NM_145747.1:c.183C>A

Select item 145711712512.

rs1457117125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19918933 (GRCh38)
22:19906456 (GRCh37)
Canonical SPDI:: NC_000022.11:19918932:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19918933C>T, NC_000022.10:g.19906456C>T, NG_011835.1:g.27904G>A, NM_006440.5:c.301G>A, NM_006440.4:c.301G>A, NM_006440.3:c.301G>A, NM_001282512.3:c.301G>A, NM_001282512.2:c.301G>A, NM_001282512.1:c.301G>A, NM_001352300.2:c.298G>A, NM_001352300.1:c.298G>A, NM_001352303.2:c.205G>A, NM_001352303.1:c.205G>A, NM_001352302.2:c.13G>A, NM_001352302.1:c.13G>A, NM_001352301.2:c.211G>A, NM_001352301.1:c.211G>A, NR_147957.2:n.259G>A, NR_147957.1:n.433G>A, NM_145748.1:c.211G>A, NM_145747.1:c.13G>A, NP_006431.2:p.Ala101Thr, NP_001269441.1:p.Ala101Thr, NP_001339229.1:p.Ala100Thr, NP_001339232.1:p.Ala69Thr, NP_001339231.1:p.Ala5Thr, NP_001339230.1:p.Ala71Thr

Select item 145593563513.

rs1455935635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19911398 (GRCh38)
22:19898921 (GRCh37)
Canonical SPDI:: NC_000022.11:19911397:A:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19911398A>G, NC_000022.10:g.19898921A>G, NG_011835.1:g.35439T>C, NM_006440.5:c.641T>C, NM_006440.4:c.641T>C, NM_006440.3:c.641T>C, NM_001282512.3:c.641T>C, NM_001282512.2:c.641T>C, NM_001282512.1:c.641T>C, NM_001352300.2:c.638T>C, NM_001352300.1:c.638T>C, NM_001352303.2:c.545T>C, NM_001352303.1:c.545T>C, NM_001352302.2:c.353T>C, NM_001352302.1:c.353T>C, NM_001352301.2:c.551T>C, NM_001352301.1:c.551T>C, NR_147957.2:n.599T>C, NR_147957.1:n.773T>C, NM_145748.1:c.551T>C, NM_145747.1:c.353T>C, NP_006431.2:p.Leu214Pro, NP_001269441.1:p.Leu214Pro, NP_001339229.1:p.Leu213Pro, NP_001339232.1:p.Leu182Pro, NP_001339231.1:p.Leu118Pro, NP_001339230.1:p.Leu184Pro

Select item 145432267614.

rs1454322676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19883424 (GRCh38)
22:19870947 (GRCh37)
Canonical SPDI:: NC_000022.11:19883423:C:A,NC_000022.11:19883423:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19883424C>A, NC_000022.11:g.19883424C>T, NC_000022.10:g.19870947C>A, NC_000022.10:g.19870947C>T, NG_011835.1:g.63413G>T, NG_011835.1:g.63413G>A, NM_006440.5:c.987G>T, NM_006440.5:c.987G>A, NM_006440.4:c.987G>T, NM_006440.4:c.987G>A, NM_006440.3:c.987G>T, NM_006440.3:c.987G>A, NM_001352300.2:c.984G>T, NM_001352300.2:c.984G>A, NM_001352300.1:c.984G>T, NM_001352300.1:c.984G>A, NM_001352302.2:c.699G>T, NM_001352302.2:c.699G>A, NM_001352302.1:c.699G>T, NM_001352302.1:c.699G>A, NM_001352301.2:c.897G>T, NM_001352301.2:c.897G>A, NM_001352301.1:c.897G>T, NM_001352301.1:c.897G>A, NR_147957.2:n.945G>T, NR_147957.2:n.945G>A, NR_147957.1:n.1119G>T, NR_147957.1:n.1119G>A, NM_145748.1:c.897G>T, NM_145748.1:c.897G>A, NM_145747.1:c.699G>T, NM_145747.1:c.699G>A, NP_006431.2:p.Lys329Asn, NP_001339229.1:p.Lys328Asn, NP_001339231.1:p.Lys233Asn, NP_001339230.1:p.Lys299Asn

Select item 144907041815.

rs1449070418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19918197 (GRCh38)
22:19905720 (GRCh37)
Canonical SPDI:: NC_000022.11:19918196:A:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19918197A>G, NC_000022.10:g.19905720A>G, NG_011835.1:g.28640T>C, NM_006440.5:c.395T>C, NM_006440.4:c.395T>C, NM_006440.3:c.395T>C, NM_001282512.3:c.395T>C, NM_001282512.2:c.395T>C, NM_001282512.1:c.395T>C, NM_001352300.2:c.392T>C, NM_001352300.1:c.392T>C, NM_001352303.2:c.299T>C, NM_001352303.1:c.299T>C, NM_001352302.2:c.107T>C, NM_001352302.1:c.107T>C, NM_001352301.2:c.305T>C, NM_001352301.1:c.305T>C, NR_147957.2:n.353T>C, NR_147957.1:n.527T>C, NM_145748.1:c.305T>C, NM_145747.1:c.107T>C, NP_006431.2:p.Val132Ala, NP_001269441.1:p.Val132Ala, NP_001339229.1:p.Val131Ala, NP_001339232.1:p.Val100Ala, NP_001339231.1:p.Val36Ala, NP_001339230.1:p.Val102Ala

Select item 144408378516.

rs1444083785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19895544 (GRCh38)
22:19883067 (GRCh37)
Canonical SPDI:: NC_000022.11:19895543:T:C,NC_000022.11:19895543:T:G
Gene:: TXNRD2 (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.000142/4 (TOMMO)
HGVS:: NC_000022.11:g.19895544T>C, NC_000022.11:g.19895544T>G, NC_000022.10:g.19883067T>C, NC_000022.10:g.19883067T>G, NG_011835.1:g.51293A>G, NG_011835.1:g.51293A>C, NM_006440.5:c.812A>G, NM_006440.5:c.812A>C, NM_006440.4:c.812A>G, NM_006440.4:c.812A>C, NM_006440.3:c.812A>G, NM_006440.3:c.812A>C, NM_001282512.3:c.812A>G, NM_001282512.3:c.812A>C, NM_001282512.2:c.812A>G, NM_001282512.2:c.812A>C, NM_001282512.1:c.812A>G, NM_001282512.1:c.812A>C, NM_001352300.2:c.809A>G, NM_001352300.2:c.809A>C, NM_001352300.1:c.809A>G, NM_001352300.1:c.809A>C, NM_001352303.2:c.716A>G, NM_001352303.2:c.716A>C, NM_001352303.1:c.716A>G, NM_001352303.1:c.716A>C, NM_001352302.2:c.524A>G, NM_001352302.2:c.524A>C, NM_001352302.1:c.524A>G, NM_001352302.1:c.524A>C, NM_001352301.2:c.722A>G, NM_001352301.2:c.722A>C, NM_001352301.1:c.722A>G, NM_001352301.1:c.722A>C, NR_147957.2:n.770A>G, NR_147957.2:n.770A>C, NR_147957.1:n.944A>G, NR_147957.1:n.944A>C, NM_145748.1:c.722A>G, NM_145748.1:c.722A>C, NM_145747.1:c.524A>G, NM_145747.1:c.524A>C, NP_006431.2:p.His271Arg, NP_006431.2:p.His271Pro, NP_001269441.1:p.His271Arg, NP_001269441.1:p.His271Pro, NP_001339229.1:p.His270Arg, NP_001339229.1:p.His270Pro, NP_001339232.1:p.His239Arg, NP_001339232.1:p.His239Pro, NP_001339231.1:p.His175Arg, NP_001339231.1:p.His175Pro, NP_001339230.1:p.His241Arg, NP_001339230.1:p.His241Pro

Select item 143650301217.

rs1436503012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19880669 (GRCh38)
22:19868192 (GRCh37)
Canonical SPDI:: NC_000022.11:19880668:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.19880669C>T, NC_000022.10:g.19868192C>T, NG_011835.1:g.66168G>A, NM_006440.5:c.1135G>A, NM_006440.4:c.1135G>A, NM_006440.3:c.1135G>A, NM_001352300.2:c.1132G>A, NM_001352300.1:c.1132G>A, NM_001352302.2:c.847G>A, NM_001352302.1:c.847G>A, NM_001352301.2:c.1045G>A, NM_001352301.1:c.1045G>A, NR_147957.2:n.1093G>A, NR_147957.1:n.1267G>A, NM_145748.1:c.1045G>A, NM_145747.1:c.847G>A, NP_006431.2:p.Val379Met, NP_001339229.1:p.Val378Met, NP_001339231.1:p.Val283Met, NP_001339230.1:p.Val349Met

Select item 143568674118.

rs1435686741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19880243 (GRCh38)
22:19867766 (GRCh37)
Canonical SPDI:: NC_000022.11:19880242:T:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19880243T>C, NC_000022.10:g.19867766T>C, NG_011835.1:g.66594A>G, NM_006440.5:c.1211A>G, NM_006440.4:c.1211A>G, NM_006440.3:c.1211A>G, NM_001352300.2:c.1208A>G, NM_001352300.1:c.1208A>G, NM_001352302.2:c.923A>G, NM_001352302.1:c.923A>G, NM_001352301.2:c.1121A>G, NM_001352301.1:c.1121A>G, NR_147957.2:n.1169A>G, NR_147957.1:n.1343A>G, NM_145748.1:c.1121A>G, NM_145747.1:c.923A>G, NP_006431.2:p.Glu404Gly, NP_001339229.1:p.Glu403Gly, NP_001339231.1:p.Glu308Gly, NP_001339230.1:p.Glu374Gly

Select item 143272036519.

rs1432720365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19918870 (GRCh38)
22:19906393 (GRCh37)
Canonical SPDI:: NC_000022.11:19918869:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19918870G>A, NC_000022.10:g.19906393G>A, NG_011835.1:g.27967C>T, NM_006440.5:c.364C>T, NM_006440.4:c.364C>T, NM_006440.3:c.364C>T, NM_001282512.3:c.364C>T, NM_001282512.2:c.364C>T, NM_001282512.1:c.364C>T, NM_001352300.2:c.361C>T, NM_001352300.1:c.361C>T, NM_001352303.2:c.268C>T, NM_001352303.1:c.268C>T, NM_001352302.2:c.76C>T, NM_001352302.1:c.76C>T, NM_001352301.2:c.274C>T, NM_001352301.1:c.274C>T, NR_147957.2:n.322C>T, NR_147957.1:n.496C>T, NM_145748.1:c.274C>T, NM_145747.1:c.76C>T, NP_006431.2:p.Pro122Ser, NP_001269441.1:p.Pro122Ser, NP_001339229.1:p.Pro121Ser, NP_001339232.1:p.Pro90Ser, NP_001339231.1:p.Pro26Ser, NP_001339230.1:p.Pro92Ser

Select item 143111180420.

rs1431111804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19898125 (GRCh38)
22:19885648 (GRCh37)
Canonical SPDI:: NC_000022.11:19898124:C:A,NC_000022.11:19898124:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000022.11:g.19898125C>A, NC_000022.11:g.19898125C>T, NC_000022.10:g.19885648C>A, NC_000022.10:g.19885648C>T, NG_011835.1:g.48712G>T, NG_011835.1:g.48712G>A, NM_006440.5:c.688G>T, NM_006440.5:c.688G>A, NM_006440.4:c.688G>T, NM_006440.4:c.688G>A, NM_006440.3:c.688G>T, NM_006440.3:c.688G>A, NM_001282512.3:c.688G>T, NM_001282512.3:c.688G>A, NM_001282512.2:c.688G>T, NM_001282512.2:c.688G>A, NM_001282512.1:c.688G>T, NM_001282512.1:c.688G>A, NM_001352300.2:c.685G>T, NM_001352300.2:c.685G>A, NM_001352300.1:c.685G>T, NM_001352300.1:c.685G>A, NM_001352303.2:c.592G>T, NM_001352303.2:c.592G>A, NM_001352303.1:c.592G>T, NM_001352303.1:c.592G>A, NM_001352302.2:c.400G>T, NM_001352302.2:c.400G>A, NM_001352302.1:c.400G>T, NM_001352302.1:c.400G>A, NM_001352301.2:c.598G>T, NM_001352301.2:c.598G>A, NM_001352301.1:c.598G>T, NM_001352301.1:c.598G>A, NR_147957.2:n.646G>T, NR_147957.2:n.646G>A, NR_147957.1:n.820G>T, NR_147957.1:n.820G>A, NM_145748.1:c.598G>T, NM_145748.1:c.598G>A, NM_145747.1:c.400G>T, NM_145747.1:c.400G>A, NP_006431.2:p.Ala230Ser, NP_006431.2:p.Ala230Thr, NP_001269441.1:p.Ala230Ser, NP_001269441.1:p.Ala230Thr, NP_001339229.1:p.Ala229Ser, NP_001339229.1:p.Ala229Thr, NP_001339232.1:p.Ala198Ser, NP_001339232.1:p.Ala198Thr, NP_001339231.1:p.Ala134Ser, NP_001339231.1:p.Ala134Thr, NP_001339230.1:p.Ala200Ser, NP_001339230.1:p.Ala200Thr

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