SNP Links for Protein (Select 110825988) - SNP

Links from Protein

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Select item 14907610061.

rs1490761006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:234478768 (GRCh38)
1:234614514 (GRCh37)
Canonical SPDI:: NC_000001.11:234478767:C:A
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.234478768C>A, NC_000001.10:g.234614514C>A, NM_005646.4:c.336G>T, NM_005646.3:c.336G>T, XM_005273234.4:c.336G>T, XM_005273234.3:c.336G>T, XM_005273234.2:c.336G>T, XM_005273234.1:c.336G>T, XM_011544263.3:c.336G>T, XM_011544263.2:c.336G>T, XM_011544263.1:c.336G>T, XR_949157.3:n.412G>T, XR_949157.2:n.405G>T, XR_949157.1:n.389G>T, XM_017002194.3:c.336G>T, XM_017002194.2:c.336G>T, XM_017002194.1:c.336G>T, XM_047429067.1:c.336G>T, XM_047429068.1:c.336G>T, XM_047429072.1:c.336G>T, XM_047429060.1:c.336G>T, XR_007063103.1:n.412G>T, XM_047429061.1:c.336G>T, XM_047429073.1:c.336G>T, XM_047429079.1:c.336G>T

Select item 14906002202.

rs1490600220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:234433443 (GRCh38)
1:234569189 (GRCh37)
Canonical SPDI:: NC_000001.11:234433442:G:A
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.234433443G>A, NC_000001.10:g.234569189G>A, NM_005646.4:c.2361C>T, NM_005646.3:c.2361C>T, XM_005273234.4:c.2358C>T, XM_005273234.3:c.2358C>T, XM_005273234.2:c.2358C>T, XM_005273234.1:c.2358C>T, XM_011544263.3:c.2361C>T, XM_011544263.2:c.2361C>T, XM_011544263.1:c.2361C>T, XR_949157.3:n.2437C>T, XR_949157.2:n.2430C>T, XR_949157.1:n.2414C>T, XM_017002194.3:c.2361C>T, XM_017002194.2:c.2361C>T, XM_017002194.1:c.2361C>T, XM_017002196.2:c.132C>T, XM_017002196.1:c.132C>T, XM_047429067.1:c.2361C>T, XM_047429068.1:c.2358C>T, XM_047429072.1:c.2361C>T, XM_047429060.1:c.2358C>T, XR_007063103.1:n.2437C>T, XM_047429091.1:c.993C>T, XM_047429061.1:c.2361C>T, XM_047429073.1:c.2361C>T, XM_047429080.1:c.993C>T, XM_047429079.1:c.2358C>T

Select item 14902699323.

rs1490269932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234478424 (GRCh38)
1:234614170 (GRCh37)
Canonical SPDI:: NC_000001.11:234478423:T:C
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.234478424T>C, NC_000001.10:g.234614170T>C, NM_005646.4:c.680A>G, NM_005646.3:c.680A>G, XM_005273234.4:c.680A>G, XM_005273234.3:c.680A>G, XM_005273234.2:c.680A>G, XM_005273234.1:c.680A>G, XM_011544263.3:c.680A>G, XM_011544263.2:c.680A>G, XM_011544263.1:c.680A>G, XR_949157.3:n.756A>G, XR_949157.2:n.749A>G, XR_949157.1:n.733A>G, XM_017002194.3:c.680A>G, XM_017002194.2:c.680A>G, XM_017002194.1:c.680A>G, XM_047429067.1:c.680A>G, XM_047429068.1:c.680A>G, XM_047429072.1:c.680A>G, XM_047429060.1:c.680A>G, XR_007063103.1:n.756A>G, XM_047429061.1:c.680A>G, XM_047429073.1:c.680A>G, XM_047429079.1:c.680A>G, NP_005637.3:p.Glu227Gly, XP_005273291.1:p.Glu227Gly, XP_011542565.1:p.Glu227Gly, XP_016857683.1:p.Glu227Gly, XP_047285023.1:p.Glu227Gly, XP_047285024.1:p.Glu227Gly, XP_047285028.1:p.Glu227Gly, XP_047285016.1:p.Glu227Gly, XP_047285017.1:p.Glu227Gly, XP_047285029.1:p.Glu227Gly, XP_047285035.1:p.Glu227Gly

Select item 14893936034.

rs1489393603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234478622 (GRCh38)
1:234614368 (GRCh37)
Canonical SPDI:: NC_000001.11:234478621:T:C
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.234478622T>C, NC_000001.10:g.234614368T>C, NM_005646.4:c.482A>G, NM_005646.3:c.482A>G, XM_005273234.4:c.482A>G, XM_005273234.3:c.482A>G, XM_005273234.2:c.482A>G, XM_005273234.1:c.482A>G, XM_011544263.3:c.482A>G, XM_011544263.2:c.482A>G, XM_011544263.1:c.482A>G, XR_949157.3:n.558A>G, XR_949157.2:n.551A>G, XR_949157.1:n.535A>G, XM_017002194.3:c.482A>G, XM_017002194.2:c.482A>G, XM_017002194.1:c.482A>G, XM_047429067.1:c.482A>G, XM_047429068.1:c.482A>G, XM_047429072.1:c.482A>G, XM_047429060.1:c.482A>G, XR_007063103.1:n.558A>G, XM_047429061.1:c.482A>G, XM_047429073.1:c.482A>G, XM_047429079.1:c.482A>G, NP_005637.3:p.Glu161Gly, XP_005273291.1:p.Glu161Gly, XP_011542565.1:p.Glu161Gly, XP_016857683.1:p.Glu161Gly, XP_047285023.1:p.Glu161Gly, XP_047285024.1:p.Glu161Gly, XP_047285028.1:p.Glu161Gly, XP_047285016.1:p.Glu161Gly, XP_047285017.1:p.Glu161Gly, XP_047285029.1:p.Glu161Gly, XP_047285035.1:p.Glu161Gly

Select item 14883924705.

rs1488392470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:234479088 (GRCh38)
1:234614834 (GRCh37)
Canonical SPDI:: NC_000001.11:234479087:C:T
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.234479088C>T, NC_000001.10:g.234614834C>T, NM_005646.4:c.16G>A, NM_005646.3:c.16G>A, XM_005273234.4:c.16G>A, XM_005273234.3:c.16G>A, XM_005273234.2:c.16G>A, XM_005273234.1:c.16G>A, XM_011544263.3:c.16G>A, XM_011544263.2:c.16G>A, XM_011544263.1:c.16G>A, XR_949157.3:n.92G>A, XR_949157.2:n.85G>A, XR_949157.1:n.69G>A, XM_017002194.3:c.16G>A, XM_017002194.2:c.16G>A, XM_017002194.1:c.16G>A, XM_047429067.1:c.16G>A, XM_047429068.1:c.16G>A, XM_047429072.1:c.16G>A, XM_047429060.1:c.16G>A, XR_007063103.1:n.92G>A, XM_047429061.1:c.16G>A, XM_047429073.1:c.16G>A, XM_047429079.1:c.16G>A, NP_005637.3:p.Ala6Thr, XP_005273291.1:p.Ala6Thr, XP_011542565.1:p.Ala6Thr, XP_016857683.1:p.Ala6Thr, XP_047285023.1:p.Ala6Thr, XP_047285024.1:p.Ala6Thr, XP_047285028.1:p.Ala6Thr, XP_047285016.1:p.Ala6Thr, XP_047285017.1:p.Ala6Thr, XP_047285029.1:p.Ala6Thr, XP_047285035.1:p.Ala6Thr

Select item 14876933226.

rs1487693322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234393468 (GRCh38)
1:234529214 (GRCh37)
Canonical SPDI:: NC_000001.11:234393467:T:C
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234393468T>C, NC_000001.10:g.234529214T>C, NM_005646.4:c.4454A>G, NM_005646.3:c.4454A>G, XM_005273234.4:c.4451A>G, XM_005273234.3:c.4451A>G, XM_005273234.2:c.4451A>G, XM_005273234.1:c.4451A>G, XM_011544263.3:c.4382A>G, XM_011544263.2:c.4382A>G, XM_011544263.1:c.4382A>G, XM_017002196.2:c.2225A>G, XM_017002196.1:c.2225A>G, XM_047429060.1:c.4379A>G, XM_047429080.1:c.3086A>G, XM_047429097.1:c.2063A>G, NP_005637.3:p.Glu1485Gly, XP_005273291.1:p.Glu1484Gly, XP_011542565.1:p.Glu1461Gly, XP_016857685.1:p.Glu742Gly, XP_047285016.1:p.Glu1460Gly, XP_047285036.1:p.Glu1029Gly, XP_047285053.1:p.Glu688Gly

Select item 14865428687.

rs1486542868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:234459262 (GRCh38)
1:234595008 (GRCh37)
Canonical SPDI:: NC_000001.11:234459261:G:A,NC_000001.11:234459261:G:C
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234459262G>A, NC_000001.11:g.234459262G>C, NC_000001.10:g.234595008G>A, NC_000001.10:g.234595008G>C, NM_005646.4:c.1600C>T, NM_005646.4:c.1600C>G, NM_005646.3:c.1600C>T, NM_005646.3:c.1600C>G, XM_005273234.4:c.1600C>T, XM_005273234.4:c.1600C>G, XM_005273234.3:c.1600C>T, XM_005273234.3:c.1600C>G, XM_005273234.2:c.1600C>T, XM_005273234.2:c.1600C>G, XM_005273234.1:c.1600C>T, XM_005273234.1:c.1600C>G, XM_011544263.3:c.1600C>T, XM_011544263.3:c.1600C>G, XM_011544263.2:c.1600C>T, XM_011544263.2:c.1600C>G, XM_011544263.1:c.1600C>T, XM_011544263.1:c.1600C>G, XR_949157.3:n.1676C>T, XR_949157.3:n.1676C>G, XR_949157.2:n.1669C>T, XR_949157.2:n.1669C>G, XR_949157.1:n.1653C>T, XR_949157.1:n.1653C>G, XM_017002194.3:c.1600C>T, XM_017002194.3:c.1600C>G, XM_017002194.2:c.1600C>T, XM_017002194.2:c.1600C>G, XM_017002194.1:c.1600C>T, XM_017002194.1:c.1600C>G, XM_047429067.1:c.1600C>T, XM_047429067.1:c.1600C>G, XM_047429068.1:c.1600C>T, XM_047429068.1:c.1600C>G, XM_047429072.1:c.1600C>T, XM_047429072.1:c.1600C>G, XM_047429060.1:c.1600C>T, XM_047429060.1:c.1600C>G, XR_007063103.1:n.1676C>T, XR_007063103.1:n.1676C>G, XM_047429091.1:c.232C>T, XM_047429091.1:c.232C>G, XM_047429061.1:c.1600C>T, XM_047429061.1:c.1600C>G, XM_047429073.1:c.1600C>T, XM_047429073.1:c.1600C>G, XM_047429080.1:c.232C>T, XM_047429080.1:c.232C>G, XM_047429079.1:c.1600C>T, XM_047429079.1:c.1600C>G, NP_005637.3:p.Leu534Phe, NP_005637.3:p.Leu534Val, XP_005273291.1:p.Leu534Phe, XP_005273291.1:p.Leu534Val, XP_011542565.1:p.Leu534Phe, XP_011542565.1:p.Leu534Val, XP_016857683.1:p.Leu534Phe, XP_016857683.1:p.Leu534Val, XP_047285023.1:p.Leu534Phe, XP_047285023.1:p.Leu534Val, XP_047285024.1:p.Leu534Phe, XP_047285024.1:p.Leu534Val, XP_047285028.1:p.Leu534Phe, XP_047285028.1:p.Leu534Val, XP_047285016.1:p.Leu534Phe, XP_047285016.1:p.Leu534Val, XP_047285047.1:p.Leu78Phe, XP_047285047.1:p.Leu78Val, XP_047285017.1:p.Leu534Phe, XP_047285017.1:p.Leu534Val, XP_047285029.1:p.Leu534Phe, XP_047285029.1:p.Leu534Val, XP_047285036.1:p.Leu78Phe, XP_047285036.1:p.Leu78Val, XP_047285035.1:p.Leu534Phe, XP_047285035.1:p.Leu534Val

Select item 14858408838.

rs1485840883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:234478994 (GRCh38)
1:234614740 (GRCh37)
Canonical SPDI:: NC_000001.11:234478993:C:G,NC_000001.11:234478993:C:T
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234478994C>G, NC_000001.11:g.234478994C>T, NC_000001.10:g.234614740C>G, NC_000001.10:g.234614740C>T, NM_005646.4:c.110G>C, NM_005646.4:c.110G>A, NM_005646.3:c.110G>C, NM_005646.3:c.110G>A, XM_005273234.4:c.110G>C, XM_005273234.4:c.110G>A, XM_005273234.3:c.110G>C, XM_005273234.3:c.110G>A, XM_005273234.2:c.110G>C, XM_005273234.2:c.110G>A, XM_005273234.1:c.110G>C, XM_005273234.1:c.110G>A, XM_011544263.3:c.110G>C, XM_011544263.3:c.110G>A, XM_011544263.2:c.110G>C, XM_011544263.2:c.110G>A, XM_011544263.1:c.110G>C, XM_011544263.1:c.110G>A, XR_949157.3:n.186G>C, XR_949157.3:n.186G>A, XR_949157.2:n.179G>C, XR_949157.2:n.179G>A, XR_949157.1:n.163G>C, XR_949157.1:n.163G>A, XM_017002194.3:c.110G>C, XM_017002194.3:c.110G>A, XM_017002194.2:c.110G>C, XM_017002194.2:c.110G>A, XM_017002194.1:c.110G>C, XM_017002194.1:c.110G>A, XM_047429067.1:c.110G>C, XM_047429067.1:c.110G>A, XM_047429068.1:c.110G>C, XM_047429068.1:c.110G>A, XM_047429072.1:c.110G>C, XM_047429072.1:c.110G>A, XM_047429060.1:c.110G>C, XM_047429060.1:c.110G>A, XR_007063103.1:n.186G>C, XR_007063103.1:n.186G>A, XM_047429061.1:c.110G>C, XM_047429061.1:c.110G>A, XM_047429073.1:c.110G>C, XM_047429073.1:c.110G>A, XM_047429079.1:c.110G>C, XM_047429079.1:c.110G>A, NP_005637.3:p.Arg37Pro, NP_005637.3:p.Arg37His, XP_005273291.1:p.Arg37Pro, XP_005273291.1:p.Arg37His, XP_011542565.1:p.Arg37Pro, XP_011542565.1:p.Arg37His, XP_016857683.1:p.Arg37Pro, XP_016857683.1:p.Arg37His, XP_047285023.1:p.Arg37Pro, XP_047285023.1:p.Arg37His, XP_047285024.1:p.Arg37Pro, XP_047285024.1:p.Arg37His, XP_047285028.1:p.Arg37Pro, XP_047285028.1:p.Arg37His, XP_047285016.1:p.Arg37Pro, XP_047285016.1:p.Arg37His, XP_047285017.1:p.Arg37Pro, XP_047285017.1:p.Arg37His, XP_047285029.1:p.Arg37Pro, XP_047285029.1:p.Arg37His, XP_047285035.1:p.Arg37Pro, XP_047285035.1:p.Arg37His

Select item 14851321939.

rs1485132193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:234479003 (GRCh38)
1:234614749 (GRCh37)
Canonical SPDI:: NC_000001.11:234479002:T:G
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234479003T>G, NC_000001.10:g.234614749T>G, NM_005646.4:c.101A>C, NM_005646.3:c.101A>C, XM_005273234.4:c.101A>C, XM_005273234.3:c.101A>C, XM_005273234.2:c.101A>C, XM_005273234.1:c.101A>C, XM_011544263.3:c.101A>C, XM_011544263.2:c.101A>C, XM_011544263.1:c.101A>C, XR_949157.3:n.177A>C, XR_949157.2:n.170A>C, XR_949157.1:n.154A>C, XM_017002194.3:c.101A>C, XM_017002194.2:c.101A>C, XM_017002194.1:c.101A>C, XM_047429067.1:c.101A>C, XM_047429068.1:c.101A>C, XM_047429072.1:c.101A>C, XM_047429060.1:c.101A>C, XR_007063103.1:n.177A>C, XM_047429061.1:c.101A>C, XM_047429073.1:c.101A>C, XM_047429079.1:c.101A>C, NP_005637.3:p.Glu34Ala, XP_005273291.1:p.Glu34Ala, XP_011542565.1:p.Glu34Ala, XP_016857683.1:p.Glu34Ala, XP_047285023.1:p.Glu34Ala, XP_047285024.1:p.Glu34Ala, XP_047285028.1:p.Glu34Ala, XP_047285016.1:p.Glu34Ala, XP_047285017.1:p.Glu34Ala, XP_047285029.1:p.Glu34Ala, XP_047285035.1:p.Glu34Ala

Select item 148501245010.

rs1485012450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:234405966 (GRCh38)
1:234541712 (GRCh37)
Canonical SPDI:: NC_000001.11:234405965:A:C
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234405966A>C, NC_000001.10:g.234541712A>C, NM_005646.4:c.3926T>G, NM_005646.3:c.3926T>G, XM_005273234.4:c.3923T>G, XM_005273234.3:c.3923T>G, XM_005273234.2:c.3923T>G, XM_005273234.1:c.3923T>G, XM_011544263.3:c.3854T>G, XM_011544263.2:c.3854T>G, XM_011544263.1:c.3854T>G, XR_949157.3:n.4002T>G, XR_949157.2:n.3995T>G, XR_949157.1:n.3979T>G, XM_017002196.2:c.1697T>G, XM_017002196.1:c.1697T>G, XM_047429060.1:c.3851T>G, XR_007063103.1:n.4002T>G, XM_047429061.1:c.3926T>G, XM_047429073.1:c.*72T>G, XM_047429080.1:c.2558T>G, XM_047429097.1:c.1535T>G, NP_005637.3:p.Phe1309Cys, XP_005273291.1:p.Phe1308Cys, XP_011542565.1:p.Phe1285Cys, XP_016857685.1:p.Phe566Cys, XP_047285016.1:p.Phe1284Cys, XP_047285017.1:p.Phe1309Cys, XP_047285036.1:p.Phe853Cys, XP_047285053.1:p.Phe512Cys

Select item 148486809211.

rs1484868092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:234478619 (GRCh38)
1:234614365 (GRCh37)
Canonical SPDI:: NC_000001.11:234478618:C:A,NC_000001.11:234478618:C:G
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.234478619C>A, NC_000001.11:g.234478619C>G, NC_000001.10:g.234614365C>A, NC_000001.10:g.234614365C>G, NM_005646.4:c.485G>T, NM_005646.4:c.485G>C, NM_005646.3:c.485G>T, NM_005646.3:c.485G>C, XM_005273234.4:c.485G>T, XM_005273234.4:c.485G>C, XM_005273234.3:c.485G>T, XM_005273234.3:c.485G>C, XM_005273234.2:c.485G>T, XM_005273234.2:c.485G>C, XM_005273234.1:c.485G>T, XM_005273234.1:c.485G>C, XM_011544263.3:c.485G>T, XM_011544263.3:c.485G>C, XM_011544263.2:c.485G>T, XM_011544263.2:c.485G>C, XM_011544263.1:c.485G>T, XM_011544263.1:c.485G>C, XR_949157.3:n.561G>T, XR_949157.3:n.561G>C, XR_949157.2:n.554G>T, XR_949157.2:n.554G>C, XR_949157.1:n.538G>T, XR_949157.1:n.538G>C, XM_017002194.3:c.485G>T, XM_017002194.3:c.485G>C, XM_017002194.2:c.485G>T, XM_017002194.2:c.485G>C, XM_017002194.1:c.485G>T, XM_017002194.1:c.485G>C, XM_047429067.1:c.485G>T, XM_047429067.1:c.485G>C, XM_047429068.1:c.485G>T, XM_047429068.1:c.485G>C, XM_047429072.1:c.485G>T, XM_047429072.1:c.485G>C, XM_047429060.1:c.485G>T, XM_047429060.1:c.485G>C, XR_007063103.1:n.561G>T, XR_007063103.1:n.561G>C, XM_047429061.1:c.485G>T, XM_047429061.1:c.485G>C, XM_047429073.1:c.485G>T, XM_047429073.1:c.485G>C, XM_047429079.1:c.485G>T, XM_047429079.1:c.485G>C, NP_005637.3:p.Arg162Leu, NP_005637.3:p.Arg162Pro, XP_005273291.1:p.Arg162Leu, XP_005273291.1:p.Arg162Pro, XP_011542565.1:p.Arg162Leu, XP_011542565.1:p.Arg162Pro, XP_016857683.1:p.Arg162Leu, XP_016857683.1:p.Arg162Pro, XP_047285023.1:p.Arg162Leu, XP_047285023.1:p.Arg162Pro, XP_047285024.1:p.Arg162Leu, XP_047285024.1:p.Arg162Pro, XP_047285028.1:p.Arg162Leu, XP_047285028.1:p.Arg162Pro, XP_047285016.1:p.Arg162Leu, XP_047285016.1:p.Arg162Pro, XP_047285017.1:p.Arg162Leu, XP_047285017.1:p.Arg162Pro, XP_047285029.1:p.Arg162Leu, XP_047285029.1:p.Arg162Pro, XP_047285035.1:p.Arg162Leu, XP_047285035.1:p.Arg162Pro

Select item 148353291712.

rs1483532917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:234478283 (GRCh38)
1:234614029 (GRCh37)
Canonical SPDI:: NC_000001.11:234478282:C:T
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.234478283C>T, NC_000001.10:g.234614029C>T, NM_005646.4:c.821G>A, NM_005646.3:c.821G>A, XM_005273234.4:c.821G>A, XM_005273234.3:c.821G>A, XM_005273234.2:c.821G>A, XM_005273234.1:c.821G>A, XM_011544263.3:c.821G>A, XM_011544263.2:c.821G>A, XM_011544263.1:c.821G>A, XR_949157.3:n.897G>A, XR_949157.2:n.890G>A, XR_949157.1:n.874G>A, XM_017002194.3:c.821G>A, XM_017002194.2:c.821G>A, XM_017002194.1:c.821G>A, XM_047429067.1:c.821G>A, XM_047429068.1:c.821G>A, XM_047429072.1:c.821G>A, XM_047429060.1:c.821G>A, XR_007063103.1:n.897G>A, XM_047429061.1:c.821G>A, XM_047429073.1:c.821G>A, XM_047429079.1:c.821G>A, NP_005637.3:p.Gly274Asp, XP_005273291.1:p.Gly274Asp, XP_011542565.1:p.Gly274Asp, XP_016857683.1:p.Gly274Asp, XP_047285023.1:p.Gly274Asp, XP_047285024.1:p.Gly274Asp, XP_047285028.1:p.Gly274Asp, XP_047285016.1:p.Gly274Asp, XP_047285017.1:p.Gly274Asp, XP_047285029.1:p.Gly274Asp, XP_047285035.1:p.Gly274Asp

Select item 148244054313.

rs1482440543 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:234427751 (GRCh38)
1:234563497 (GRCh37)
Canonical SPDI:: NC_000001.11:234427750:TT:T
Gene:: TARBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.234427752del, NC_000001.10:g.234563498del, NM_005646.4:c.3076del, NM_005646.3:c.3076del, XM_005273234.4:c.3073del, XM_005273234.3:c.3073del, XM_005273234.2:c.3073del, XM_005273234.1:c.3073del, XM_011544263.3:c.3076del, XM_011544263.2:c.3076del, XM_011544263.1:c.3076del, XR_949157.3:n.3152del, XR_949157.2:n.3145del, XR_949157.1:n.3129del, XM_017002194.3:c.3076del, XM_017002194.2:c.3076del, XM_017002194.1:c.3076del, XM_017002196.2:c.847del, XM_017002196.1:c.847del, XM_047429067.1:c.3076del, XM_047429068.1:c.3073del, XM_047429072.1:c.3076del, XM_047429060.1:c.3073del, XR_007063103.1:n.3152del, XM_047429091.1:c.1708del, XM_047429061.1:c.3076del, XM_047429073.1:c.3076del, XM_047429080.1:c.1708del, XM_047429079.1:c.3073del, XM_047429097.1:c.685del, NP_005637.3:p.Ile1026fs, XP_005273291.1:p.Ile1025fs, XP_011542565.1:p.Ile1026fs, XP_016857683.1:p.Ile1026fs, XP_016857685.1:p.Ile283fs, XP_047285023.1:p.Ile1026fs, XP_047285024.1:p.Ile1025fs, XP_047285028.1:p.Ile1026fs, XP_047285016.1:p.Ile1025fs, XP_047285047.1:p.Ile570fs, XP_047285017.1:p.Ile1026fs, XP_047285029.1:p.Ile1026fs, XP_047285036.1:p.Ile570fs, XP_047285035.1:p.Ile1025fs, XP_047285053.1:p.Ile229fs

Select item 148238124114.

rs1482381241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:234393426 (GRCh38)
1:234529172 (GRCh37)
Canonical SPDI:: NC_000001.11:234393425:C:G
Gene:: TARBP1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.234393426C>G, NC_000001.10:g.234529172C>G, NM_005646.4:c.4496G>C, NM_005646.3:c.4496G>C, XM_005273234.4:c.4493G>C, XM_005273234.3:c.4493G>C, XM_005273234.2:c.4493G>C, XM_005273234.1:c.4493G>C, XM_011544263.3:c.4424G>C, XM_011544263.2:c.4424G>C, XM_011544263.1:c.4424G>C, XM_017002196.2:c.2267G>C, XM_017002196.1:c.2267G>C, XM_047429060.1:c.4421G>C, XM_047429080.1:c.3128G>C, XM_047429097.1:c.2105G>C, NP_005637.3:p.Cys1499Ser, XP_005273291.1:p.Cys1498Ser, XP_011542565.1:p.Cys1475Ser, XP_016857685.1:p.Cys756Ser, XP_047285016.1:p.Cys1474Ser, XP_047285036.1:p.Cys1043Ser, XP_047285053.1:p.Cys702Ser

Select item 148214212015.

rs1482142120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:234478414 (GRCh38)
1:234614160 (GRCh37)
Canonical SPDI:: NC_000001.11:234478413:C:G,NC_000001.11:234478413:C:T
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.234478414C>G, NC_000001.11:g.234478414C>T, NC_000001.10:g.234614160C>G, NC_000001.10:g.234614160C>T, NM_005646.4:c.690G>C, NM_005646.4:c.690G>A, NM_005646.3:c.690G>C, NM_005646.3:c.690G>A, XM_005273234.4:c.690G>C, XM_005273234.4:c.690G>A, XM_005273234.3:c.690G>C, XM_005273234.3:c.690G>A, XM_005273234.2:c.690G>C, XM_005273234.2:c.690G>A, XM_005273234.1:c.690G>C, XM_005273234.1:c.690G>A, XM_011544263.3:c.690G>C, XM_011544263.3:c.690G>A, XM_011544263.2:c.690G>C, XM_011544263.2:c.690G>A, XM_011544263.1:c.690G>C, XM_011544263.1:c.690G>A, XR_949157.3:n.766G>C, XR_949157.3:n.766G>A, XR_949157.2:n.759G>C, XR_949157.2:n.759G>A, XR_949157.1:n.743G>C, XR_949157.1:n.743G>A, XM_017002194.3:c.690G>C, XM_017002194.3:c.690G>A, XM_017002194.2:c.690G>C, XM_017002194.2:c.690G>A, XM_017002194.1:c.690G>C, XM_017002194.1:c.690G>A, XM_047429067.1:c.690G>C, XM_047429067.1:c.690G>A, XM_047429068.1:c.690G>C, XM_047429068.1:c.690G>A, XM_047429072.1:c.690G>C, XM_047429072.1:c.690G>A, XM_047429060.1:c.690G>C, XM_047429060.1:c.690G>A, XR_007063103.1:n.766G>C, XR_007063103.1:n.766G>A, XM_047429061.1:c.690G>C, XM_047429061.1:c.690G>A, XM_047429073.1:c.690G>C, XM_047429073.1:c.690G>A, XM_047429079.1:c.690G>C, XM_047429079.1:c.690G>A

Select item 148157505916.

rs1481575059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234478928 (GRCh38)
1:234614674 (GRCh37)
Canonical SPDI:: NC_000001.11:234478927:T:C
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.234478928T>C, NC_000001.10:g.234614674T>C, NM_005646.4:c.176A>G, NM_005646.3:c.176A>G, XM_005273234.4:c.176A>G, XM_005273234.3:c.176A>G, XM_005273234.2:c.176A>G, XM_005273234.1:c.176A>G, XM_011544263.3:c.176A>G, XM_011544263.2:c.176A>G, XM_011544263.1:c.176A>G, XR_949157.3:n.252A>G, XR_949157.2:n.245A>G, XR_949157.1:n.229A>G, XM_017002194.3:c.176A>G, XM_017002194.2:c.176A>G, XM_017002194.1:c.176A>G, XM_047429067.1:c.176A>G, XM_047429068.1:c.176A>G, XM_047429072.1:c.176A>G, XM_047429060.1:c.176A>G, XR_007063103.1:n.252A>G, XM_047429061.1:c.176A>G, XM_047429073.1:c.176A>G, XM_047429079.1:c.176A>G, NP_005637.3:p.Glu59Gly, XP_005273291.1:p.Glu59Gly, XP_011542565.1:p.Glu59Gly, XP_016857683.1:p.Glu59Gly, XP_047285023.1:p.Glu59Gly, XP_047285024.1:p.Glu59Gly, XP_047285028.1:p.Glu59Gly, XP_047285016.1:p.Glu59Gly, XP_047285017.1:p.Glu59Gly, XP_047285029.1:p.Glu59Gly, XP_047285035.1:p.Glu59Gly

Select item 148139400917.

rs1481394009 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCCGCGGG>- [Show Flanks]
Chromosome:: 1:234478856 (GRCh38)
1:234614602 (GRCh37)
Canonical SPDI:: NC_000001.11:234478851:CGGGCCGCCCGCGGG:CGGG
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.234478856_234478866del, NC_000001.10:g.234614602_234614612del, NM_005646.4:c.242_252del, NM_005646.3:c.242_252del, XM_005273234.4:c.242_252del, XM_005273234.3:c.242_252del, XM_005273234.2:c.242_252del, XM_005273234.1:c.242_252del, XM_011544263.3:c.242_252del, XM_011544263.2:c.242_252del, XM_011544263.1:c.242_252del, XR_949157.3:n.318_328del, XR_949157.2:n.311_321del, XR_949157.1:n.295_305del, XM_017002194.3:c.242_252del, XM_017002194.2:c.242_252del, XM_017002194.1:c.242_252del, XM_047429067.1:c.242_252del, XM_047429068.1:c.242_252del, XM_047429072.1:c.242_252del, XM_047429060.1:c.242_252del, XR_007063103.1:n.318_328del, XM_047429061.1:c.242_252del, XM_047429073.1:c.242_252del, XM_047429079.1:c.242_252del, NP_005637.3:p.Ala81fs, XP_005273291.1:p.Ala81fs, XP_011542565.1:p.Ala81fs, XP_016857683.1:p.Ala81fs, XP_047285023.1:p.Ala81fs, XP_047285024.1:p.Ala81fs, XP_047285028.1:p.Ala81fs, XP_047285016.1:p.Ala81fs, XP_047285017.1:p.Ala81fs, XP_047285029.1:p.Ala81fs, XP_047285035.1:p.Ala81fs

Select item 148127705318.

rs1481277053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:234450504 (GRCh38)
1:234586250 (GRCh37)
Canonical SPDI:: NC_000001.11:234450503:A:G
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234450504A>G, NC_000001.10:g.234586250A>G, NM_005646.4:c.1785T>C, NM_005646.3:c.1785T>C, XM_005273234.4:c.1785T>C, XM_005273234.3:c.1785T>C, XM_005273234.2:c.1785T>C, XM_005273234.1:c.1785T>C, XM_011544263.3:c.1785T>C, XM_011544263.2:c.1785T>C, XM_011544263.1:c.1785T>C, XR_949157.3:n.1861T>C, XR_949157.2:n.1854T>C, XR_949157.1:n.1838T>C, XM_017002194.3:c.1785T>C, XM_017002194.2:c.1785T>C, XM_017002194.1:c.1785T>C, XM_047429067.1:c.1785T>C, XM_047429068.1:c.1785T>C, XM_047429072.1:c.1785T>C, XM_047429060.1:c.1785T>C, XR_007063103.1:n.1861T>C, XM_047429091.1:c.417T>C, XM_047429061.1:c.1785T>C, XM_047429073.1:c.1785T>C, XM_047429080.1:c.417T>C, XM_047429079.1:c.1785T>C

Select item 148112895919.

rs1481128959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:234478230 (GRCh38)
1:234613976 (GRCh37)
Canonical SPDI:: NC_000001.11:234478229:C:A
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.234478230C>A, NC_000001.10:g.234613976C>A, NM_005646.4:c.874G>T, NM_005646.3:c.874G>T, XM_005273234.4:c.874G>T, XM_005273234.3:c.874G>T, XM_005273234.2:c.874G>T, XM_005273234.1:c.874G>T, XM_011544263.3:c.874G>T, XM_011544263.2:c.874G>T, XM_011544263.1:c.874G>T, XR_949157.3:n.950G>T, XR_949157.2:n.943G>T, XR_949157.1:n.927G>T, XM_017002194.3:c.874G>T, XM_017002194.2:c.874G>T, XM_017002194.1:c.874G>T, XM_047429067.1:c.874G>T, XM_047429068.1:c.874G>T, XM_047429072.1:c.874G>T, XM_047429060.1:c.874G>T, XR_007063103.1:n.950G>T, XM_047429061.1:c.874G>T, XM_047429073.1:c.874G>T, XM_047429079.1:c.874G>T, NP_005637.3:p.Val292Leu, XP_005273291.1:p.Val292Leu, XP_011542565.1:p.Val292Leu, XP_016857683.1:p.Val292Leu, XP_047285023.1:p.Val292Leu, XP_047285024.1:p.Val292Leu, XP_047285028.1:p.Val292Leu, XP_047285016.1:p.Val292Leu, XP_047285017.1:p.Val292Leu, XP_047285029.1:p.Val292Leu, XP_047285035.1:p.Val292Leu

Select item 148067220320.

rs1480672203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:234478479 (GRCh38)
1:234614225 (GRCh37)
Canonical SPDI:: NC_000001.11:234478478:C:G
Gene:: TARBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.234478479C>G, NC_000001.10:g.234614225C>G, NM_005646.4:c.625G>C, NM_005646.3:c.625G>C, XM_005273234.4:c.625G>C, XM_005273234.3:c.625G>C, XM_005273234.2:c.625G>C, XM_005273234.1:c.625G>C, XM_011544263.3:c.625G>C, XM_011544263.2:c.625G>C, XM_011544263.1:c.625G>C, XR_949157.3:n.701G>C, XR_949157.2:n.694G>C, XR_949157.1:n.678G>C, XM_017002194.3:c.625G>C, XM_017002194.2:c.625G>C, XM_017002194.1:c.625G>C, XM_047429067.1:c.625G>C, XM_047429068.1:c.625G>C, XM_047429072.1:c.625G>C, XM_047429060.1:c.625G>C, XR_007063103.1:n.701G>C, XM_047429061.1:c.625G>C, XM_047429073.1:c.625G>C, XM_047429079.1:c.625G>C, NP_005637.3:p.Ala209Pro, XP_005273291.1:p.Ala209Pro, XP_011542565.1:p.Ala209Pro, XP_016857683.1:p.Ala209Pro, XP_047285023.1:p.Ala209Pro, XP_047285024.1:p.Ala209Pro, XP_047285028.1:p.Ala209Pro, XP_047285016.1:p.Ala209Pro, XP_047285017.1:p.Ala209Pro, XP_047285029.1:p.Ala209Pro, XP_047285035.1:p.Ala209Pro

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