SNP Links for Protein (Select 256818780) - SNP

Links from Protein

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Select item 14905227631.

rs1490522763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:50223369 (GRCh38)
16:50257280 (GRCh37)
Canonical SPDI:: NC_000016.10:50223368:G:A
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.50223369G>A, NC_000016.9:g.50257280G>A, XM_011523275.4:c.1321G>A, XM_011523275.3:c.1321G>A, XM_011523275.2:c.1321G>A, XM_011523275.1:c.1321G>A, NM_001365324.3:c.1363G>A, NM_001365324.2:c.1363G>A, NM_001365324.1:c.1363G>A, NM_001040284.3:c.1318G>A, NM_001040284.2:c.1318G>A, XM_011523276.3:c.1321G>A, XM_011523276.2:c.1321G>A, XM_011523276.1:c.1321G>A, NM_001040285.3:c.1318G>A, NM_001040285.2:c.1318G>A, XM_011523278.3:c.805G>A, XM_011523278.2:c.805G>A, XM_011523278.1:c.805G>A, NM_001365323.2:c.1303G>A, NM_001365323.1:c.1303G>A, XM_047434475.1:c.1363G>A, XM_047434476.1:c.1303G>A, XM_047434477.1:c.805G>A, NM_022447.1:c.217G>A, XP_011521577.1:p.Glu441Lys, NP_001352253.1:p.Glu455Lys, NP_001035374.2:p.Glu440Lys, XP_011521578.1:p.Glu441Lys, NP_001035375.2:p.Glu440Lys, XP_011521580.1:p.Glu269Lys, NP_001352252.1:p.Glu435Lys, XP_047290431.1:p.Glu455Lys, XP_047290432.1:p.Glu435Lys, XP_047290433.1:p.Glu269Lys

Select item 14890586722.

rs1489058672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:50153957 (GRCh38)
16:50187868 (GRCh37)
Canonical SPDI:: NC_000016.10:50153956:C:A,NC_000016.10:50153956:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50153957C>A, NC_000016.10:g.50153957C>T, NC_000016.9:g.50187868C>A, NC_000016.9:g.50187868C>T, XM_011523275.4:c.294C>A, XM_011523275.4:c.294C>T, XM_011523275.3:c.294C>A, XM_011523275.3:c.294C>T, XM_011523275.2:c.294C>A, XM_011523275.2:c.294C>T, XM_011523275.1:c.294C>A, XM_011523275.1:c.294C>T, NM_001365324.3:c.336C>A, NM_001365324.3:c.336C>T, NM_001365324.2:c.336C>A, NM_001365324.2:c.336C>T, NM_001365324.1:c.336C>A, NM_001365324.1:c.336C>T, NM_001040284.3:c.291C>A, NM_001040284.3:c.291C>T, NM_001040284.2:c.291C>A, NM_001040284.2:c.291C>T, XM_011523276.3:c.294C>A, XM_011523276.3:c.294C>T, XM_011523276.2:c.294C>A, XM_011523276.2:c.294C>T, XM_011523276.1:c.294C>A, XM_011523276.1:c.294C>T, NM_001040285.3:c.291C>A, NM_001040285.3:c.291C>T, NM_001040285.2:c.291C>A, NM_001040285.2:c.291C>T, NM_001365323.2:c.276C>A, NM_001365323.2:c.276C>T, NM_001365323.1:c.276C>A, NM_001365323.1:c.276C>T, XM_047434475.1:c.336C>A, XM_047434475.1:c.336C>T, XM_047434476.1:c.276C>A, XM_047434476.1:c.276C>T, XP_011521577.1:p.Asn98Lys, NP_001352253.1:p.Asn112Lys, NP_001035374.2:p.Asn97Lys, XP_011521578.1:p.Asn98Lys, NP_001035375.2:p.Asn97Lys, NP_001352252.1:p.Asn92Lys, XP_047290431.1:p.Asn112Lys, XP_047290432.1:p.Asn92Lys

Select item 14852486903.

rs1485248690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:50222362 (GRCh38)
16:50256273 (GRCh37)
Canonical SPDI:: NC_000016.10:50222361:G:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50222362G>T, NC_000016.9:g.50256273G>T, XM_011523275.4:c.1053G>T, XM_011523275.3:c.1053G>T, XM_011523275.2:c.1053G>T, XM_011523275.1:c.1053G>T, NM_001365324.3:c.1095G>T, NM_001365324.2:c.1095G>T, NM_001365324.1:c.1095G>T, NM_001040284.3:c.1050G>T, NM_001040284.2:c.1050G>T, XM_011523276.3:c.1053G>T, XM_011523276.2:c.1053G>T, XM_011523276.1:c.1053G>T, NM_001040285.3:c.1050G>T, NM_001040285.2:c.1050G>T, XM_011523278.3:c.537G>T, XM_011523278.2:c.537G>T, XM_011523278.1:c.537G>T, NM_001365323.2:c.1035G>T, NM_001365323.1:c.1035G>T, XM_047434475.1:c.1095G>T, XM_047434476.1:c.1035G>T, XM_047434477.1:c.537G>T, NM_022447.1:c.-52G>T, XP_011521577.1:p.Arg351Ser, NP_001352253.1:p.Arg365Ser, NP_001035374.2:p.Arg350Ser, XP_011521578.1:p.Arg351Ser, NP_001035375.2:p.Arg350Ser, XP_011521580.1:p.Arg179Ser, NP_001352252.1:p.Arg345Ser, XP_047290431.1:p.Arg365Ser, XP_047290432.1:p.Arg345Ser, XP_047290433.1:p.Arg179Ser

Select item 14847813324.

rs1484781332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:50153860 (GRCh38)
16:50187771 (GRCh37)
Canonical SPDI:: NC_000016.10:50153859:C:G,NC_000016.10:50153859:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50153860C>G, NC_000016.10:g.50153860C>T, NC_000016.9:g.50187771C>G, NC_000016.9:g.50187771C>T, XM_011523275.4:c.197C>G, XM_011523275.4:c.197C>T, XM_011523275.3:c.197C>G, XM_011523275.3:c.197C>T, XM_011523275.2:c.197C>G, XM_011523275.2:c.197C>T, XM_011523275.1:c.197C>G, XM_011523275.1:c.197C>T, NM_001365324.3:c.239C>G, NM_001365324.3:c.239C>T, NM_001365324.2:c.239C>G, NM_001365324.2:c.239C>T, NM_001365324.1:c.239C>G, NM_001365324.1:c.239C>T, NM_001040284.3:c.194C>G, NM_001040284.3:c.194C>T, NM_001040284.2:c.194C>G, NM_001040284.2:c.194C>T, XM_011523276.3:c.197C>G, XM_011523276.3:c.197C>T, XM_011523276.2:c.197C>G, XM_011523276.2:c.197C>T, XM_011523276.1:c.197C>G, XM_011523276.1:c.197C>T, NM_001040285.3:c.194C>G, NM_001040285.3:c.194C>T, NM_001040285.2:c.194C>G, NM_001040285.2:c.194C>T, NM_001365323.2:c.179C>G, NM_001365323.2:c.179C>T, NM_001365323.1:c.179C>G, NM_001365323.1:c.179C>T, XM_047434475.1:c.239C>G, XM_047434475.1:c.239C>T, XM_047434476.1:c.179C>G, XM_047434476.1:c.179C>T, XP_011521577.1:p.Pro66Arg, XP_011521577.1:p.Pro66Leu, NP_001352253.1:p.Pro80Arg, NP_001352253.1:p.Pro80Leu, NP_001035374.2:p.Pro65Arg, NP_001035374.2:p.Pro65Leu, XP_011521578.1:p.Pro66Arg, XP_011521578.1:p.Pro66Leu, NP_001035375.2:p.Pro65Arg, NP_001035375.2:p.Pro65Leu, NP_001352252.1:p.Pro60Arg, NP_001352252.1:p.Pro60Leu, XP_047290431.1:p.Pro80Arg, XP_047290431.1:p.Pro80Leu, XP_047290432.1:p.Pro60Arg, XP_047290432.1:p.Pro60Leu

Select item 14832819165.

rs1483281916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:50154200 (GRCh38)
16:50188111 (GRCh37)
Canonical SPDI:: NC_000016.10:50154199:C:G,NC_000016.10:50154199:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.50154200C>G, NC_000016.10:g.50154200C>T, NC_000016.9:g.50188111C>G, NC_000016.9:g.50188111C>T, XM_011523275.4:c.537C>G, XM_011523275.4:c.537C>T, XM_011523275.3:c.537C>G, XM_011523275.3:c.537C>T, XM_011523275.2:c.537C>G, XM_011523275.2:c.537C>T, XM_011523275.1:c.537C>G, XM_011523275.1:c.537C>T, NM_001365324.3:c.579C>G, NM_001365324.3:c.579C>T, NM_001365324.2:c.579C>G, NM_001365324.2:c.579C>T, NM_001365324.1:c.579C>G, NM_001365324.1:c.579C>T, NM_001040284.3:c.534C>G, NM_001040284.3:c.534C>T, NM_001040284.2:c.534C>G, NM_001040284.2:c.534C>T, XM_011523276.3:c.537C>G, XM_011523276.3:c.537C>T, XM_011523276.2:c.537C>G, XM_011523276.2:c.537C>T, XM_011523276.1:c.537C>G, XM_011523276.1:c.537C>T, NM_001040285.3:c.534C>G, NM_001040285.3:c.534C>T, NM_001040285.2:c.534C>G, NM_001040285.2:c.534C>T, NM_001365323.2:c.519C>G, NM_001365323.2:c.519C>T, NM_001365323.1:c.519C>G, NM_001365323.1:c.519C>T, XM_047434475.1:c.579C>G, XM_047434475.1:c.579C>T, XM_047434476.1:c.519C>G, XM_047434476.1:c.519C>T

Select item 14809682476.

rs1480968247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:50153887 (GRCh38)
16:50187798 (GRCh37)
Canonical SPDI:: NC_000016.10:50153886:G:A
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.50153887G>A, NC_000016.9:g.50187798G>A, XM_011523275.4:c.224G>A, XM_011523275.3:c.224G>A, XM_011523275.2:c.224G>A, XM_011523275.1:c.224G>A, NM_001365324.3:c.266G>A, NM_001365324.2:c.266G>A, NM_001365324.1:c.266G>A, NM_001040284.3:c.221G>A, NM_001040284.2:c.221G>A, XM_011523276.3:c.224G>A, XM_011523276.2:c.224G>A, XM_011523276.1:c.224G>A, NM_001040285.3:c.221G>A, NM_001040285.2:c.221G>A, NM_001365323.2:c.206G>A, NM_001365323.1:c.206G>A, XM_047434475.1:c.266G>A, XM_047434476.1:c.206G>A, XP_011521577.1:p.Arg75His, NP_001352253.1:p.Arg89His, NP_001035374.2:p.Arg74His, XP_011521578.1:p.Arg75His, NP_001035375.2:p.Arg74His, NP_001352252.1:p.Arg69His, XP_047290431.1:p.Arg89His, XP_047290432.1:p.Arg69His

Select item 14805335297.

rs1480533529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:50153877 (GRCh38)
16:50187788 (GRCh37)
Canonical SPDI:: NC_000016.10:50153876:T:C
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000016.10:g.50153877T>C, NC_000016.9:g.50187788T>C, XM_011523275.4:c.214T>C, XM_011523275.3:c.214T>C, XM_011523275.2:c.214T>C, XM_011523275.1:c.214T>C, NM_001365324.3:c.256T>C, NM_001365324.2:c.256T>C, NM_001365324.1:c.256T>C, NM_001040284.3:c.211T>C, NM_001040284.2:c.211T>C, XM_011523276.3:c.214T>C, XM_011523276.2:c.214T>C, XM_011523276.1:c.214T>C, NM_001040285.3:c.211T>C, NM_001040285.2:c.211T>C, NM_001365323.2:c.196T>C, NM_001365323.1:c.196T>C, XM_047434475.1:c.256T>C, XM_047434476.1:c.196T>C, XP_011521577.1:p.Ser72Pro, NP_001352253.1:p.Ser86Pro, NP_001035374.2:p.Ser71Pro, XP_011521578.1:p.Ser72Pro, NP_001035375.2:p.Ser71Pro, NP_001352252.1:p.Ser66Pro, XP_047290431.1:p.Ser86Pro, XP_047290432.1:p.Ser66Pro

Select item 14793795508.

rs1479379550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:50223214 (GRCh38)
16:50257125 (GRCh37)
Canonical SPDI:: NC_000016.10:50223213:A:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.50223214A>T, NC_000016.9:g.50257125A>T, XM_011523275.4:c.1166A>T, XM_011523275.3:c.1166A>T, XM_011523275.2:c.1166A>T, XM_011523275.1:c.1166A>T, NM_001365324.3:c.1208A>T, NM_001365324.2:c.1208A>T, NM_001365324.1:c.1208A>T, NM_001040284.3:c.1163A>T, NM_001040284.2:c.1163A>T, XM_011523276.3:c.1166A>T, XM_011523276.2:c.1166A>T, XM_011523276.1:c.1166A>T, NM_001040285.3:c.1163A>T, NM_001040285.2:c.1163A>T, XM_011523278.3:c.650A>T, XM_011523278.2:c.650A>T, XM_011523278.1:c.650A>T, NM_001365323.2:c.1148A>T, NM_001365323.1:c.1148A>T, XM_047434475.1:c.1208A>T, XM_047434476.1:c.1148A>T, XM_047434477.1:c.650A>T, NM_022447.1:c.62A>T, XP_011521577.1:p.Tyr389Phe, NP_001352253.1:p.Tyr403Phe, NP_001035374.2:p.Tyr388Phe, XP_011521578.1:p.Tyr389Phe, NP_001035375.2:p.Tyr388Phe, XP_011521580.1:p.Tyr217Phe, NP_001352252.1:p.Tyr383Phe, XP_047290431.1:p.Tyr403Phe, XP_047290432.1:p.Tyr383Phe, XP_047290433.1:p.Tyr217Phe

Select item 14789729479.

rs1478972947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:50154208 (GRCh38)
16:50188119 (GRCh37)
Canonical SPDI:: NC_000016.10:50154207:T:G
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD_exomes)
G=0.00056/1 (Korea1K)
G=0.00171/5 (KOREAN)
HGVS:: NC_000016.10:g.50154208T>G, NC_000016.9:g.50188119T>G, XM_011523275.4:c.545T>G, XM_011523275.3:c.545T>G, XM_011523275.2:c.545T>G, XM_011523275.1:c.545T>G, NM_001365324.3:c.587T>G, NM_001365324.2:c.587T>G, NM_001365324.1:c.587T>G, NM_001040284.3:c.542T>G, NM_001040284.2:c.542T>G, XM_011523276.3:c.545T>G, XM_011523276.2:c.545T>G, XM_011523276.1:c.545T>G, NM_001040285.3:c.542T>G, NM_001040285.2:c.542T>G, NM_001365323.2:c.527T>G, NM_001365323.1:c.527T>G, XM_047434475.1:c.587T>G, XM_047434476.1:c.527T>G, XP_011521577.1:p.Val182Gly, NP_001352253.1:p.Val196Gly, NP_001035374.2:p.Val181Gly, XP_011521578.1:p.Val182Gly, NP_001035375.2:p.Val181Gly, NP_001352252.1:p.Val176Gly, XP_047290431.1:p.Val196Gly, XP_047290432.1:p.Val176Gly

Select item 147837553110.

rs1478375531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50224764 (GRCh38)
16:50258675 (GRCh37)
Canonical SPDI:: NC_000016.10:50224763:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.50224764C>T, NC_000016.9:g.50258675C>T, XM_011523275.4:c.1447C>T, XM_011523275.3:c.1447C>T, XM_011523275.2:c.1447C>T, XM_011523275.1:c.1447C>T, NM_001365324.3:c.1489C>T, NM_001365324.2:c.1489C>T, NM_001365324.1:c.1489C>T, NM_001040284.3:c.1444C>T, NM_001040284.2:c.1444C>T, XM_011523276.3:c.1447C>T, XM_011523276.2:c.1447C>T, XM_011523276.1:c.1447C>T, NM_001040285.3:c.1444C>T, NM_001040285.2:c.1444C>T, XM_011523278.3:c.931C>T, XM_011523278.2:c.931C>T, XM_011523278.1:c.931C>T, NM_001365323.2:c.1429C>T, NM_001365323.1:c.1429C>T, XM_047434475.1:c.1489C>T, XM_047434476.1:c.1429C>T, XM_047434477.1:c.931C>T, NM_022447.1:c.343C>T, XP_011521577.1:p.Pro483Ser, NP_001352253.1:p.Pro497Ser, NP_001035374.2:p.Pro482Ser, XP_011521578.1:p.Pro483Ser, NP_001035375.2:p.Pro482Ser, XP_011521580.1:p.Pro311Ser, NP_001352252.1:p.Pro477Ser, XP_047290431.1:p.Pro497Ser, XP_047290432.1:p.Pro477Ser, XP_047290433.1:p.Pro311Ser

Select item 147788420711.

rs1477884207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:50227989 (GRCh38)
16:50261900 (GRCh37)
Canonical SPDI:: NC_000016.10:50227988:A:C
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50227989A>C, NC_000016.9:g.50261900A>C, XM_011523275.4:c.1909A>C, XM_011523275.3:c.1909A>C, XM_011523275.2:c.1909A>C, XM_011523275.1:c.1909A>C, NM_001365324.3:c.1951A>C, NM_001365324.2:c.1951A>C, NM_001365324.1:c.1951A>C, NM_001040284.3:c.1906A>C, NM_001040284.2:c.1906A>C, XM_011523276.3:c.1768A>C, XM_011523276.2:c.1768A>C, XM_011523276.1:c.1768A>C, NM_001040285.3:c.1765A>C, NM_001040285.2:c.1765A>C, XM_011523278.3:c.1393A>C, XM_011523278.2:c.1393A>C, XM_011523278.1:c.1393A>C, NM_001365323.2:c.1891A>C, NM_001365323.1:c.1891A>C, XM_047434475.1:c.1810A>C, XM_047434476.1:c.1750A>C, XM_047434477.1:c.1252A>C, NM_022447.1:c.*150A>C, XP_011521577.1:p.Thr637Pro, NP_001352253.1:p.Thr651Pro, NP_001035374.2:p.Thr636Pro, XP_011521578.1:p.Thr590Pro, NP_001035375.2:p.Thr589Pro, XP_011521580.1:p.Thr465Pro, NP_001352252.1:p.Thr631Pro, XP_047290431.1:p.Thr604Pro, XP_047290432.1:p.Thr584Pro, XP_047290433.1:p.Thr418Pro

Select item 147536114812.

rs1475361148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:50154150 (GRCh38)
16:50188061 (GRCh37)
Canonical SPDI:: NC_000016.10:50154149:C:A
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50154150C>A, NC_000016.9:g.50188061C>A, XM_011523275.4:c.487C>A, XM_011523275.3:c.487C>A, XM_011523275.2:c.487C>A, XM_011523275.1:c.487C>A, NM_001365324.3:c.529C>A, NM_001365324.2:c.529C>A, NM_001365324.1:c.529C>A, NM_001040284.3:c.484C>A, NM_001040284.2:c.484C>A, XM_011523276.3:c.487C>A, XM_011523276.2:c.487C>A, XM_011523276.1:c.487C>A, NM_001040285.3:c.484C>A, NM_001040285.2:c.484C>A, NM_001365323.2:c.469C>A, NM_001365323.1:c.469C>A, XM_047434475.1:c.529C>A, XM_047434476.1:c.469C>A, XP_011521577.1:p.Leu163Met, NP_001352253.1:p.Leu177Met, NP_001035374.2:p.Leu162Met, XP_011521578.1:p.Leu163Met, NP_001035375.2:p.Leu162Met, NP_001352252.1:p.Leu157Met, XP_047290431.1:p.Leu177Met, XP_047290432.1:p.Leu157Met

Select item 147471629013.

rs1474716290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50154019 (GRCh38)
16:50187930 (GRCh37)
Canonical SPDI:: NC_000016.10:50154018:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.50154019C>T, NC_000016.9:g.50187930C>T, XM_011523275.4:c.356C>T, XM_011523275.3:c.356C>T, XM_011523275.2:c.356C>T, XM_011523275.1:c.356C>T, NM_001365324.3:c.398C>T, NM_001365324.2:c.398C>T, NM_001365324.1:c.398C>T, NM_001040284.3:c.353C>T, NM_001040284.2:c.353C>T, XM_011523276.3:c.356C>T, XM_011523276.2:c.356C>T, XM_011523276.1:c.356C>T, NM_001040285.3:c.353C>T, NM_001040285.2:c.353C>T, NM_001365323.2:c.338C>T, NM_001365323.1:c.338C>T, XM_047434475.1:c.398C>T, XM_047434476.1:c.338C>T, XP_011521577.1:p.Pro119Leu, NP_001352253.1:p.Pro133Leu, NP_001035374.2:p.Pro118Leu, XP_011521578.1:p.Pro119Leu, NP_001035375.2:p.Pro118Leu, NP_001352252.1:p.Pro113Leu, XP_047290431.1:p.Pro133Leu, XP_047290432.1:p.Pro113Leu

Select item 147469440914.

rs1474694409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:50154097 (GRCh38)
16:50188008 (GRCh37)
Canonical SPDI:: NC_000016.10:50154096:A:G
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50154097A>G, NC_000016.9:g.50188008A>G, XM_011523275.4:c.434A>G, XM_011523275.3:c.434A>G, XM_011523275.2:c.434A>G, XM_011523275.1:c.434A>G, NM_001365324.3:c.476A>G, NM_001365324.2:c.476A>G, NM_001365324.1:c.476A>G, NM_001040284.3:c.431A>G, NM_001040284.2:c.431A>G, XM_011523276.3:c.434A>G, XM_011523276.2:c.434A>G, XM_011523276.1:c.434A>G, NM_001040285.3:c.431A>G, NM_001040285.2:c.431A>G, NM_001365323.2:c.416A>G, NM_001365323.1:c.416A>G, XM_047434475.1:c.476A>G, XM_047434476.1:c.416A>G, XP_011521577.1:p.Asn145Ser, NP_001352253.1:p.Asn159Ser, NP_001035374.2:p.Asn144Ser, XP_011521578.1:p.Asn145Ser, NP_001035375.2:p.Asn144Ser, NP_001352252.1:p.Asn139Ser, XP_047290431.1:p.Asn159Ser, XP_047290432.1:p.Asn139Ser

Select item 147421577415.

rs1474215774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50154036 (GRCh38)
16:50187947 (GRCh37)
Canonical SPDI:: NC_000016.10:50154035:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.50154036C>T, NC_000016.9:g.50187947C>T, XM_011523275.4:c.373C>T, XM_011523275.3:c.373C>T, XM_011523275.2:c.373C>T, XM_011523275.1:c.373C>T, NM_001365324.3:c.415C>T, NM_001365324.2:c.415C>T, NM_001365324.1:c.415C>T, NM_001040284.3:c.370C>T, NM_001040284.2:c.370C>T, XM_011523276.3:c.373C>T, XM_011523276.2:c.373C>T, XM_011523276.1:c.373C>T, NM_001040285.3:c.370C>T, NM_001040285.2:c.370C>T, NM_001365323.2:c.355C>T, NM_001365323.1:c.355C>T, XM_047434475.1:c.415C>T, XM_047434476.1:c.355C>T, XP_011521577.1:p.Pro125Ser, NP_001352253.1:p.Pro139Ser, NP_001035374.2:p.Pro124Ser, XP_011521578.1:p.Pro125Ser, NP_001035375.2:p.Pro124Ser, NP_001352252.1:p.Pro119Ser, XP_047290431.1:p.Pro139Ser, XP_047290432.1:p.Pro119Ser

Select item 147028537716.

rs1470285377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:50217585 (GRCh38)
16:50251496 (GRCh37)
Canonical SPDI:: NC_000016.10:50217584:T:C
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.50217585T>C, NC_000016.9:g.50251496T>C, XM_011523275.4:c.918T>C, XM_011523275.3:c.918T>C, XM_011523275.2:c.918T>C, XM_011523275.1:c.918T>C, NM_001365324.3:c.960T>C, NM_001365324.2:c.960T>C, NM_001365324.1:c.960T>C, NM_001040284.3:c.915T>C, NM_001040284.2:c.915T>C, XM_011523276.3:c.918T>C, XM_011523276.2:c.918T>C, XM_011523276.1:c.918T>C, NM_001040285.3:c.915T>C, NM_001040285.2:c.915T>C, XM_011523278.3:c.402T>C, XM_011523278.2:c.402T>C, XM_011523278.1:c.402T>C, NM_001365323.2:c.900T>C, NM_001365323.1:c.900T>C, XM_047434475.1:c.960T>C, XM_047434476.1:c.900T>C, XM_047434477.1:c.402T>C, NM_022447.1:c.-187T>C

Select item 146710717617.

rs1467107176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:50211417 (GRCh38)
16:50245328 (GRCh37)
Canonical SPDI:: NC_000016.10:50211416:G:A
Gene:: TENT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.50211417G>A, NC_000016.9:g.50245328G>A, XM_011523275.4:c.691G>A, XM_011523275.3:c.691G>A, XM_011523275.2:c.691G>A, XM_011523275.1:c.691G>A, NM_001365324.3:c.733G>A, NM_001365324.2:c.733G>A, NM_001365324.1:c.733G>A, NM_001040284.3:c.688G>A, NM_001040284.2:c.688G>A, XM_011523276.3:c.691G>A, XM_011523276.2:c.691G>A, XM_011523276.1:c.691G>A, NM_001040285.3:c.688G>A, NM_001040285.2:c.688G>A, XM_011523278.3:c.175G>A, XM_011523278.2:c.175G>A, XM_011523278.1:c.175G>A, NM_001365323.2:c.673G>A, NM_001365323.1:c.673G>A, XM_047434475.1:c.733G>A, XM_047434476.1:c.673G>A, XM_047434477.1:c.175G>A, XP_011521577.1:p.Val231Ile, NP_001352253.1:p.Val245Ile, NP_001035374.2:p.Val230Ile, XP_011521578.1:p.Val231Ile, NP_001035375.2:p.Val230Ile, XP_011521580.1:p.Val59Ile, NP_001352252.1:p.Val225Ile, XP_047290431.1:p.Val245Ile, XP_047290432.1:p.Val225Ile, XP_047290433.1:p.Val59Ile

Select item 146703827518.

rs1467038275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:50152962 (GRCh38)
16:50186873 (GRCh37)
Canonical SPDI:: NC_000016.10:50152961:C:A,NC_000016.10:50152961:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000009/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.50152962C>A, NC_000016.10:g.50152962C>T, NC_000016.9:g.50186873C>A, NC_000016.9:g.50186873C>T, XM_011523275.4:c.10C>A, XM_011523275.4:c.10C>T, XM_011523275.3:c.10C>A, XM_011523275.3:c.10C>T, XM_011523275.2:c.10C>A, XM_011523275.2:c.10C>T, XM_011523275.1:c.10C>A, XM_011523275.1:c.10C>T, NM_001040284.3:c.10C>A, NM_001040284.3:c.10C>T, NM_001040284.2:c.10C>A, NM_001040284.2:c.10C>T, XM_011523276.3:c.10C>A, XM_011523276.3:c.10C>T, XM_011523276.2:c.10C>A, XM_011523276.2:c.10C>T, XM_011523276.1:c.10C>A, XM_011523276.1:c.10C>T, NM_001040285.3:c.10C>A, NM_001040285.3:c.10C>T, NM_001040285.2:c.10C>A, NM_001040285.2:c.10C>T, XM_011523278.3:c.10C>A, XM_011523278.3:c.10C>T, XM_011523278.2:c.10C>A, XM_011523278.2:c.10C>T, XM_011523278.1:c.10C>A, XM_011523278.1:c.10C>T, NM_001365323.2:c.-104C>A, NM_001365323.2:c.-104C>T, NM_001365323.1:c.-104C>A, NM_001365323.1:c.-104C>T, XM_047434476.1:c.-104C>A, XM_047434476.1:c.-104C>T, XM_047434477.1:c.10C>A, XM_047434477.1:c.10C>T, XP_011521577.1:p.Arg4Ser, XP_011521577.1:p.Arg4Cys, NP_001035374.2:p.Arg4Ser, NP_001035374.2:p.Arg4Cys, XP_011521578.1:p.Arg4Ser, XP_011521578.1:p.Arg4Cys, NP_001035375.2:p.Arg4Ser, NP_001035375.2:p.Arg4Cys, XP_011521580.1:p.Arg4Ser, XP_011521580.1:p.Arg4Cys, XP_047290433.1:p.Arg4Ser, XP_047290433.1:p.Arg4Cys

Select item 146666705319.

rs1466667053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:50154024 (GRCh38)
16:50187935 (GRCh37)
Canonical SPDI:: NC_000016.10:50154023:G:C
Gene:: TENT4B (Varview)
Functional Consequence:: intron_variant,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)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50154024G>C, NC_000016.9:g.50187935G>C, XM_011523275.4:c.361G>C, XM_011523275.3:c.361G>C, XM_011523275.2:c.361G>C, XM_011523275.1:c.361G>C, NM_001365324.3:c.403G>C, NM_001365324.2:c.403G>C, NM_001365324.1:c.403G>C, NM_001040284.3:c.358G>C, NM_001040284.2:c.358G>C, XM_011523276.3:c.361G>C, XM_011523276.2:c.361G>C, XM_011523276.1:c.361G>C, NM_001040285.3:c.358G>C, NM_001040285.2:c.358G>C, NM_001365323.2:c.343G>C, NM_001365323.1:c.343G>C, XM_047434475.1:c.403G>C, XM_047434476.1:c.343G>C, XP_011521577.1:p.Ala121Pro, NP_001352253.1:p.Ala135Pro, NP_001035374.2:p.Ala120Pro, XP_011521578.1:p.Ala121Pro, NP_001035375.2:p.Ala120Pro, NP_001352252.1:p.Ala115Pro, XP_047290431.1:p.Ala135Pro, XP_047290432.1:p.Ala115Pro

Select item 146614696320.

rs1466146963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50153762 (GRCh38)
16:50187673 (GRCh37)
Canonical SPDI:: NC_000016.10:50153761:C:T
Gene:: TENT4B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000079/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50153762C>T, NC_000016.9:g.50187673C>T, XM_011523275.4:c.99C>T, XM_011523275.3:c.99C>T, XM_011523275.2:c.99C>T, XM_011523275.1:c.99C>T, NM_001365324.3:c.141C>T, NM_001365324.2:c.141C>T, NM_001365324.1:c.141C>T, NM_001040284.3:c.96C>T, NM_001040284.2:c.96C>T, XM_011523276.3:c.99C>T, XM_011523276.2:c.99C>T, XM_011523276.1:c.99C>T, NM_001040285.3:c.96C>T, NM_001040285.2:c.96C>T, NM_001365323.2:c.81C>T, NM_001365323.1:c.81C>T, XM_047434475.1:c.141C>T, XM_047434476.1:c.81C>T

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