SNP Links for Protein (Select 510785742) - SNP

Links from Protein

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Select item 14774979231.

rs1477497923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6610558 (GRCh38)
11:6631789 (GRCh37)
Canonical SPDI:: NC_000011.10:6610557:C:A,NC_000011.10:6610557:C:T
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.6610558C>A, NC_000011.10:g.6610558C>T, NC_000011.9:g.6631789C>A, NC_000011.9:g.6631789C>T, NG_029702.1:g.11826C>A, NG_029702.1:g.11826C>T, NM_004517.4:c.1306C>A, NM_004517.4:c.1306C>T, NM_004517.3:c.1306C>A, NM_004517.3:c.1306C>T, NM_001014795.3:c.1306C>A, NM_001014795.3:c.1306C>T, NM_001014795.2:c.1306C>A, NM_001014795.2:c.1306C>T, NM_001014794.3:c.1306C>A, NM_001014794.3:c.1306C>T, NM_001014794.2:c.1306C>A, NM_001014794.2:c.1306C>T, NM_001278441.2:c.1123C>A, NM_001278441.2:c.1123C>T, NM_001278441.1:c.1123C>A, NM_001278441.1:c.1123C>T, NM_001278442.2:c.904C>A, NM_001278442.2:c.904C>T, NM_001278442.1:c.904C>A, NM_001278442.1:c.904C>T, XM_005252904.6:c.1306C>A, XM_005252904.6:c.1306C>T, XM_005252904.5:c.1306C>A, XM_005252904.5:c.1306C>T, XM_005252904.4:c.1306C>A, XM_005252904.4:c.1306C>T, XM_005252904.3:c.1306C>A, XM_005252904.3:c.1306C>T, XM_005252904.2:c.1306C>A, XM_005252904.2:c.1306C>T, XM_005252904.1:c.1306C>A, XM_005252904.1:c.1306C>T, NM_006284.4:c.*364G>T, NM_006284.4:c.*364G>A, XM_024448499.2:c.1153C>A, XM_024448499.2:c.1153C>T, XM_024448499.1:c.1153C>A, XM_024448499.1:c.1153C>T, XM_011520065.2:c.1306C>A, XM_011520065.2:c.1306C>T, XM_011520065.1:c.1306C>A, XM_011520065.1:c.1306C>T, XM_024448498.2:c.1153C>A, XM_024448498.2:c.1153C>T, XM_024448498.1:c.1153C>A, XM_024448498.1:c.1153C>T, XM_047426885.1:c.904C>A, XM_047426885.1:c.904C>T, NP_004508.1:p.Arg436Ter, NP_001014795.1:p.Arg436Ter, NP_001014794.1:p.Arg436Ter, NP_001265370.1:p.Arg375Ter, NP_001265371.1:p.Arg302Ter, XP_005252961.1:p.Arg436Ter, XP_024304267.1:p.Arg385Ter, XP_011518367.1:p.Arg436Ter, XP_024304266.1:p.Arg385Ter, XP_047282841.1:p.Arg302Ter

Select item 14750100972.

rs1475010097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6610549 (GRCh38)
11:6631780 (GRCh37)
Canonical SPDI:: NC_000011.10:6610548:C:T
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6610549C>T, NC_000011.9:g.6631780C>T, NG_029702.1:g.11817C>T, NM_004517.4:c.1297C>T, NM_004517.3:c.1297C>T, NM_001014795.3:c.1297C>T, NM_001014795.2:c.1297C>T, NM_001014794.3:c.1297C>T, NM_001014794.2:c.1297C>T, NM_001278441.2:c.1114C>T, NM_001278441.1:c.1114C>T, NM_001278442.2:c.895C>T, NM_001278442.1:c.895C>T, XM_005252904.6:c.1297C>T, XM_005252904.5:c.1297C>T, XM_005252904.4:c.1297C>T, XM_005252904.3:c.1297C>T, XM_005252904.2:c.1297C>T, XM_005252904.1:c.1297C>T, NM_006284.4:c.*373G>A, XM_024448499.2:c.1144C>T, XM_024448499.1:c.1144C>T, XM_011520065.2:c.1297C>T, XM_011520065.1:c.1297C>T, XM_024448498.2:c.1144C>T, XM_024448498.1:c.1144C>T, XM_047426885.1:c.895C>T, NP_004508.1:p.Pro433Ser, NP_001014795.1:p.Pro433Ser, NP_001014794.1:p.Pro433Ser, NP_001265370.1:p.Pro372Ser, NP_001265371.1:p.Pro299Ser, XP_005252961.1:p.Pro433Ser, XP_024304267.1:p.Pro382Ser, XP_011518367.1:p.Pro433Ser, XP_024304266.1:p.Pro382Ser, XP_047282841.1:p.Pro299Ser

Select item 14746324833.

rs1474632483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6610014 (GRCh38)
11:6631245 (GRCh37)
Canonical SPDI:: NC_000011.10:6610013:C:A,NC_000011.10:6610013:C:T
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6610014C>A, NC_000011.10:g.6610014C>T, NC_000011.9:g.6631245C>A, NC_000011.9:g.6631245C>T, NG_029702.1:g.11282C>A, NG_029702.1:g.11282C>T, NM_004517.4:c.1057C>A, NM_004517.4:c.1057C>T, NM_004517.3:c.1057C>A, NM_004517.3:c.1057C>T, NM_001014795.3:c.1057C>A, NM_001014795.3:c.1057C>T, NM_001014795.2:c.1057C>A, NM_001014795.2:c.1057C>T, NM_001014794.3:c.1057C>A, NM_001014794.3:c.1057C>T, NM_001014794.2:c.1057C>A, NM_001014794.2:c.1057C>T, NM_001278441.2:c.874C>A, NM_001278441.2:c.874C>T, NM_001278441.1:c.874C>A, NM_001278441.1:c.874C>T, NM_001278442.2:c.655C>A, NM_001278442.2:c.655C>T, NM_001278442.1:c.655C>A, NM_001278442.1:c.655C>T, XM_005252904.6:c.1057C>A, XM_005252904.6:c.1057C>T, XM_005252904.5:c.1057C>A, XM_005252904.5:c.1057C>T, XM_005252904.4:c.1057C>A, XM_005252904.4:c.1057C>T, XM_005252904.3:c.1057C>A, XM_005252904.3:c.1057C>T, XM_005252904.2:c.1057C>A, XM_005252904.2:c.1057C>T, XM_005252904.1:c.1057C>A, XM_005252904.1:c.1057C>T, NM_006284.4:c.*908G>T, NM_006284.4:c.*908G>A, XM_024448499.2:c.904C>A, XM_024448499.2:c.904C>T, XM_024448499.1:c.904C>A, XM_024448499.1:c.904C>T, XM_011520065.2:c.1057C>A, XM_011520065.2:c.1057C>T, XM_011520065.1:c.1057C>A, XM_011520065.1:c.1057C>T, XM_024448498.2:c.904C>A, XM_024448498.2:c.904C>T, XM_024448498.1:c.904C>A, XM_024448498.1:c.904C>T, XM_047426885.1:c.655C>A, XM_047426885.1:c.655C>T, NP_004508.1:p.Pro353Thr, NP_004508.1:p.Pro353Ser, NP_001014795.1:p.Pro353Thr, NP_001014795.1:p.Pro353Ser, NP_001014794.1:p.Pro353Thr, NP_001014794.1:p.Pro353Ser, NP_001265370.1:p.Pro292Thr, NP_001265370.1:p.Pro292Ser, NP_001265371.1:p.Pro219Thr, NP_001265371.1:p.Pro219Ser, XP_005252961.1:p.Pro353Thr, XP_005252961.1:p.Pro353Ser, XP_024304267.1:p.Pro302Thr, XP_024304267.1:p.Pro302Ser, XP_011518367.1:p.Pro353Thr, XP_011518367.1:p.Pro353Ser, XP_024304266.1:p.Pro302Thr, XP_024304266.1:p.Pro302Ser, XP_047282841.1:p.Pro219Thr, XP_047282841.1:p.Pro219Ser

Select item 14738033014.

rs1473803301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6610464 (GRCh38)
11:6631695 (GRCh37)
Canonical SPDI:: NC_000011.10:6610463:G:A
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6610464G>A, NC_000011.9:g.6631695G>A, NG_029702.1:g.11732G>A, NM_004517.4:c.1212G>A, NM_004517.3:c.1212G>A, NM_001014795.3:c.1212G>A, NM_001014795.2:c.1212G>A, NM_001014794.3:c.1212G>A, NM_001014794.2:c.1212G>A, NM_001278441.2:c.1029G>A, NM_001278441.1:c.1029G>A, NM_001278442.2:c.810G>A, NM_001278442.1:c.810G>A, XM_005252904.6:c.1212G>A, XM_005252904.5:c.1212G>A, XM_005252904.4:c.1212G>A, XM_005252904.3:c.1212G>A, XM_005252904.2:c.1212G>A, XM_005252904.1:c.1212G>A, NM_006284.4:c.*458C>T, XM_024448499.2:c.1059G>A, XM_024448499.1:c.1059G>A, XM_011520065.2:c.1212G>A, XM_011520065.1:c.1212G>A, XM_024448498.2:c.1059G>A, XM_024448498.1:c.1059G>A, XM_047426885.1:c.810G>A

Select item 14639312965.

rs1463931296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6609339 (GRCh38)
11:6630570 (GRCh37)
Canonical SPDI:: NC_000011.10:6609338:A:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6609339A>G, NC_000011.9:g.6630570A>G, NG_029702.1:g.10607A>G, NM_004517.4:c.659A>G, NM_004517.3:c.659A>G, NM_001014795.3:c.659A>G, NM_001014795.2:c.659A>G, NM_001014794.3:c.659A>G, NM_001014794.2:c.659A>G, NM_001278441.2:c.476A>G, NM_001278441.1:c.476A>G, NM_001278442.2:c.257A>G, NM_001278442.1:c.257A>G, XM_005252904.6:c.659A>G, XM_005252904.5:c.659A>G, XM_005252904.4:c.659A>G, XM_005252904.3:c.659A>G, XM_005252904.2:c.659A>G, XM_005252904.1:c.659A>G, NM_006284.4:c.*1583T>C, XM_024448499.2:c.506A>G, XM_024448499.1:c.506A>G, XM_011520065.2:c.659A>G, XM_011520065.1:c.659A>G, XM_024448498.2:c.506A>G, XM_024448498.1:c.506A>G, XM_047426885.1:c.257A>G, NP_004508.1:p.Lys220Arg, NP_001014795.1:p.Lys220Arg, NP_001014794.1:p.Lys220Arg, NP_001265370.1:p.Lys159Arg, NP_001265371.1:p.Lys86Arg, XP_005252961.1:p.Lys220Arg, XP_024304267.1:p.Lys169Arg, XP_011518367.1:p.Lys220Arg, XP_024304266.1:p.Lys169Arg, XP_047282841.1:p.Lys86Arg

Select item 14584702246.

rs1458470224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6610487 (GRCh38)
11:6631718 (GRCh37)
Canonical SPDI:: NC_000011.10:6610486:C:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.6610487C>G, NC_000011.9:g.6631718C>G, NG_029702.1:g.11755C>G, NM_004517.4:c.1235C>G, NM_004517.3:c.1235C>G, NM_001014795.3:c.1235C>G, NM_001014795.2:c.1235C>G, NM_001014794.3:c.1235C>G, NM_001014794.2:c.1235C>G, NM_001278441.2:c.1052C>G, NM_001278441.1:c.1052C>G, NM_001278442.2:c.833C>G, NM_001278442.1:c.833C>G, XM_005252904.6:c.1235C>G, XM_005252904.5:c.1235C>G, XM_005252904.4:c.1235C>G, XM_005252904.3:c.1235C>G, XM_005252904.2:c.1235C>G, XM_005252904.1:c.1235C>G, NM_006284.4:c.*435G>C, XM_024448499.2:c.1082C>G, XM_024448499.1:c.1082C>G, XM_011520065.2:c.1235C>G, XM_011520065.1:c.1235C>G, XM_024448498.2:c.1082C>G, XM_024448498.1:c.1082C>G, XM_047426885.1:c.833C>G, NP_004508.1:p.Thr412Ser, NP_001014795.1:p.Thr412Ser, NP_001014794.1:p.Thr412Ser, NP_001265370.1:p.Thr351Ser, NP_001265371.1:p.Thr278Ser, XP_005252961.1:p.Thr412Ser, XP_024304267.1:p.Thr361Ser, XP_011518367.1:p.Thr412Ser, XP_024304266.1:p.Thr361Ser, XP_047282841.1:p.Thr278Ser

Select item 14553278847.

rs1455327884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6609834 (GRCh38)
11:6631065 (GRCh37)
Canonical SPDI:: NC_000011.10:6609833:C:T
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6609834C>T, NC_000011.9:g.6631065C>T, NG_029702.1:g.11102C>T, NM_004517.4:c.967C>T, NM_004517.3:c.967C>T, NM_001014795.3:c.967C>T, NM_001014795.2:c.967C>T, NM_001014794.3:c.967C>T, NM_001014794.2:c.967C>T, NM_001278441.2:c.784C>T, NM_001278441.1:c.784C>T, NM_001278442.2:c.565C>T, NM_001278442.1:c.565C>T, XM_005252904.6:c.967C>T, XM_005252904.5:c.967C>T, XM_005252904.4:c.967C>T, XM_005252904.3:c.967C>T, XM_005252904.2:c.967C>T, XM_005252904.1:c.967C>T, NM_006284.4:c.*1088G>A, XM_024448499.2:c.814C>T, XM_024448499.1:c.814C>T, XM_011520065.2:c.967C>T, XM_011520065.1:c.967C>T, XM_024448498.2:c.814C>T, XM_024448498.1:c.814C>T, XM_047426885.1:c.565C>T, NP_004508.1:p.Arg323Cys, NP_001014795.1:p.Arg323Cys, NP_001014794.1:p.Arg323Cys, NP_001265370.1:p.Arg262Cys, NP_001265371.1:p.Arg189Cys, XP_005252961.1:p.Arg323Cys, XP_024304267.1:p.Arg272Cys, XP_011518367.1:p.Arg323Cys, XP_024304266.1:p.Arg272Cys, XP_047282841.1:p.Arg189Cys

Select item 14551020748.

rs1455102074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:6609961 (GRCh38)
11:6631192 (GRCh37)
Canonical SPDI:: NC_000011.10:6609960:T:A
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6609961T>A, NC_000011.9:g.6631192T>A, NG_029702.1:g.11229T>A, NM_004517.4:c.1004T>A, NM_004517.3:c.1004T>A, NM_001014795.3:c.1004T>A, NM_001014795.2:c.1004T>A, NM_001014794.3:c.1004T>A, NM_001014794.2:c.1004T>A, NM_001278441.2:c.821T>A, NM_001278441.1:c.821T>A, NM_001278442.2:c.602T>A, NM_001278442.1:c.602T>A, XM_005252904.6:c.1004T>A, XM_005252904.5:c.1004T>A, XM_005252904.4:c.1004T>A, XM_005252904.3:c.1004T>A, XM_005252904.2:c.1004T>A, XM_005252904.1:c.1004T>A, NM_006284.4:c.*961A>T, XM_024448499.2:c.851T>A, XM_024448499.1:c.851T>A, XM_011520065.2:c.1004T>A, XM_011520065.1:c.1004T>A, XM_024448498.2:c.851T>A, XM_024448498.1:c.851T>A, XM_047426885.1:c.602T>A, NP_004508.1:p.Ile335Asn, NP_001014795.1:p.Ile335Asn, NP_001014794.1:p.Ile335Asn, NP_001265370.1:p.Ile274Asn, NP_001265371.1:p.Ile201Asn, XP_005252961.1:p.Ile335Asn, XP_024304267.1:p.Ile284Asn, XP_011518367.1:p.Ile335Asn, XP_024304266.1:p.Ile284Asn, XP_047282841.1:p.Ile201Asn

Select item 14549629949.

rs1454962994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:6610194 (GRCh38)
11:6631425 (GRCh37)
Canonical SPDI:: NC_000011.10:6610193:G:A,NC_000011.10:6610193:G:C
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.6610194G>A, NC_000011.10:g.6610194G>C, NC_000011.9:g.6631425G>A, NC_000011.9:g.6631425G>C, NG_029702.1:g.11462G>A, NG_029702.1:g.11462G>C, NM_004517.4:c.1125G>A, NM_004517.4:c.1125G>C, NM_004517.3:c.1125G>A, NM_004517.3:c.1125G>C, NM_001014795.3:c.1125G>A, NM_001014795.3:c.1125G>C, NM_001014795.2:c.1125G>A, NM_001014795.2:c.1125G>C, NM_001014794.3:c.1125G>A, NM_001014794.3:c.1125G>C, NM_001014794.2:c.1125G>A, NM_001014794.2:c.1125G>C, NM_001278441.2:c.942G>A, NM_001278441.2:c.942G>C, NM_001278441.1:c.942G>A, NM_001278441.1:c.942G>C, NM_001278442.2:c.723G>A, NM_001278442.2:c.723G>C, NM_001278442.1:c.723G>A, NM_001278442.1:c.723G>C, XM_005252904.6:c.1125G>A, XM_005252904.6:c.1125G>C, XM_005252904.5:c.1125G>A, XM_005252904.5:c.1125G>C, XM_005252904.4:c.1125G>A, XM_005252904.4:c.1125G>C, XM_005252904.3:c.1125G>A, XM_005252904.3:c.1125G>C, XM_005252904.2:c.1125G>A, XM_005252904.2:c.1125G>C, XM_005252904.1:c.1125G>A, XM_005252904.1:c.1125G>C, NM_006284.4:c.*728C>T, NM_006284.4:c.*728C>G, XM_024448499.2:c.972G>A, XM_024448499.2:c.972G>C, XM_024448499.1:c.972G>A, XM_024448499.1:c.972G>C, XM_011520065.2:c.1125G>A, XM_011520065.2:c.1125G>C, XM_011520065.1:c.1125G>A, XM_011520065.1:c.1125G>C, XM_024448498.2:c.972G>A, XM_024448498.2:c.972G>C, XM_024448498.1:c.972G>A, XM_024448498.1:c.972G>C, XM_047426885.1:c.723G>A, XM_047426885.1:c.723G>C, NP_004508.1:p.Met375Ile, NP_004508.1:p.Met375Ile, NP_001014795.1:p.Met375Ile, NP_001014795.1:p.Met375Ile, NP_001014794.1:p.Met375Ile, NP_001014794.1:p.Met375Ile, NP_001265370.1:p.Met314Ile, NP_001265370.1:p.Met314Ile, NP_001265371.1:p.Met241Ile, NP_001265371.1:p.Met241Ile, XP_005252961.1:p.Met375Ile, XP_005252961.1:p.Met375Ile, XP_024304267.1:p.Met324Ile, XP_024304267.1:p.Met324Ile, XP_011518367.1:p.Met375Ile, XP_011518367.1:p.Met375Ile, XP_024304266.1:p.Met324Ile, XP_024304266.1:p.Met324Ile, XP_047282841.1:p.Met241Ile, XP_047282841.1:p.Met241Ile

Select item 145230643810.

rs1452306438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:6610574 (GRCh38)
11:6631805 (GRCh37)
Canonical SPDI:: NC_000011.10:6610573:T:A,NC_000011.10:6610573:T:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6610574T>A, NC_000011.10:g.6610574T>G, NC_000011.9:g.6631805T>A, NC_000011.9:g.6631805T>G, NG_029702.1:g.11842T>A, NG_029702.1:g.11842T>G, NM_004517.4:c.1322T>A, NM_004517.4:c.1322T>G, NM_004517.3:c.1322T>A, NM_004517.3:c.1322T>G, NM_001014795.3:c.1322T>A, NM_001014795.3:c.1322T>G, NM_001014795.2:c.1322T>A, NM_001014795.2:c.1322T>G, NM_001014794.3:c.1322T>A, NM_001014794.3:c.1322T>G, NM_001014794.2:c.1322T>A, NM_001014794.2:c.1322T>G, NM_001278441.2:c.1139T>A, NM_001278441.2:c.1139T>G, NM_001278441.1:c.1139T>A, NM_001278441.1:c.1139T>G, NM_001278442.2:c.920T>A, NM_001278442.2:c.920T>G, NM_001278442.1:c.920T>A, NM_001278442.1:c.920T>G, XM_005252904.6:c.1322T>A, XM_005252904.6:c.1322T>G, XM_005252904.5:c.1322T>A, XM_005252904.5:c.1322T>G, XM_005252904.4:c.1322T>A, XM_005252904.4:c.1322T>G, XM_005252904.3:c.1322T>A, XM_005252904.3:c.1322T>G, XM_005252904.2:c.1322T>A, XM_005252904.2:c.1322T>G, XM_005252904.1:c.1322T>A, XM_005252904.1:c.1322T>G, NM_006284.4:c.*348A>T, NM_006284.4:c.*348A>C, XM_024448499.2:c.1169T>A, XM_024448499.2:c.1169T>G, XM_024448499.1:c.1169T>A, XM_024448499.1:c.1169T>G, XM_011520065.2:c.1322T>A, XM_011520065.2:c.1322T>G, XM_011520065.1:c.1322T>A, XM_011520065.1:c.1322T>G, XM_024448498.2:c.1169T>A, XM_024448498.2:c.1169T>G, XM_024448498.1:c.1169T>A, XM_024448498.1:c.1169T>G, XM_047426885.1:c.920T>A, XM_047426885.1:c.920T>G, NP_004508.1:p.Met441Lys, NP_004508.1:p.Met441Arg, NP_001014795.1:p.Met441Lys, NP_001014795.1:p.Met441Arg, NP_001014794.1:p.Met441Lys, NP_001014794.1:p.Met441Arg, NP_001265370.1:p.Met380Lys, NP_001265370.1:p.Met380Arg, NP_001265371.1:p.Met307Lys, NP_001265371.1:p.Met307Arg, XP_005252961.1:p.Met441Lys, XP_005252961.1:p.Met441Arg, XP_024304267.1:p.Met390Lys, XP_024304267.1:p.Met390Arg, XP_011518367.1:p.Met441Lys, XP_011518367.1:p.Met441Arg, XP_024304266.1:p.Met390Lys, XP_024304266.1:p.Met390Arg, XP_047282841.1:p.Met307Lys, XP_047282841.1:p.Met307Arg

Select item 145040257811.

rs1450402578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6608963 (GRCh38)
11:6630194 (GRCh37)
Canonical SPDI:: NC_000011.10:6608962:G:A
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,3_prime_UTR_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_000011.10:g.6608963G>A, NC_000011.9:g.6630194G>A, NG_029702.1:g.10231G>A, NM_004517.4:c.528G>A, NM_004517.3:c.528G>A, NM_001014795.3:c.528G>A, NM_001014795.2:c.528G>A, NM_001014794.3:c.528G>A, NM_001014794.2:c.528G>A, NM_001278441.2:c.431G>A, NM_001278441.1:c.431G>A, NM_001278442.2:c.126G>A, NM_001278442.1:c.126G>A, XM_005252904.6:c.528G>A, XM_005252904.5:c.528G>A, XM_005252904.4:c.528G>A, XM_005252904.3:c.528G>A, XM_005252904.2:c.528G>A, XM_005252904.1:c.528G>A, NM_006284.4:c.*1959C>T, XM_024448499.2:c.375G>A, XM_024448499.1:c.375G>A, XM_011520065.2:c.528G>A, XM_011520065.1:c.528G>A, XM_024448498.2:c.375G>A, XM_024448498.1:c.375G>A, XM_047426885.1:c.126G>A, NP_001265370.1:p.Gly144Asp

Select item 144675839912.

rs1446758399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6608936 (GRCh38)
11:6630167 (GRCh37)
Canonical SPDI:: NC_000011.10:6608935:A:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.6608936A>G, NC_000011.9:g.6630167A>G, NG_029702.1:g.10204A>G, NM_004517.4:c.501A>G, NM_004517.3:c.501A>G, NM_001014795.3:c.501A>G, NM_001014795.2:c.501A>G, NM_001014794.3:c.501A>G, NM_001014794.2:c.501A>G, NM_001278441.2:c.404A>G, NM_001278441.1:c.404A>G, NM_001278442.2:c.99A>G, NM_001278442.1:c.99A>G, XM_005252904.6:c.501A>G, XM_005252904.5:c.501A>G, XM_005252904.4:c.501A>G, XM_005252904.3:c.501A>G, XM_005252904.2:c.501A>G, XM_005252904.1:c.501A>G, NM_006284.4:c.*1986T>C, XM_024448499.2:c.348A>G, XM_024448499.1:c.348A>G, XM_011520065.2:c.501A>G, XM_011520065.1:c.501A>G, XM_024448498.2:c.348A>G, XM_024448498.1:c.348A>G, XM_047426885.1:c.99A>G, NP_001265370.1:p.His135Arg

Select item 144587173113.

rs1445871731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:6608783 (GRCh38)
11:6630013 (GRCh37)
Canonical SPDI:: NC_000011.10:6608782:T:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.6608783T>G, NC_000011.9:g.6630013T>G, NG_029702.1:g.10050T>G, NM_004517.4:c.441T>G, NM_004517.3:c.441T>G, NM_001014795.3:c.441T>G, NM_001014795.2:c.441T>G, NM_001014794.3:c.441T>G, NM_001014794.2:c.441T>G, NM_001278442.2:c.39T>G, NM_001278442.1:c.39T>G, XM_005252904.6:c.441T>G, XM_005252904.5:c.441T>G, XM_005252904.4:c.441T>G, XM_005252904.3:c.441T>G, XM_005252904.2:c.441T>G, XM_005252904.1:c.441T>G, NM_006284.4:c.*2139A>C, XM_024448499.2:c.288T>G, XM_024448499.1:c.288T>G, XM_011520065.2:c.441T>G, XM_011520065.1:c.441T>G, XM_024448498.2:c.288T>G, XM_024448498.1:c.288T>G, XM_047426885.1:c.39T>G

Select item 144425872214.

rs1444258722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6610530 (GRCh38)
11:6631761 (GRCh37)
Canonical SPDI:: NC_000011.10:6610529:G:A
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6610530G>A, NC_000011.9:g.6631761G>A, NG_029702.1:g.11798G>A, NM_004517.4:c.1278G>A, NM_004517.3:c.1278G>A, NM_001014795.3:c.1278G>A, NM_001014795.2:c.1278G>A, NM_001014794.3:c.1278G>A, NM_001014794.2:c.1278G>A, NM_001278441.2:c.1095G>A, NM_001278441.1:c.1095G>A, NM_001278442.2:c.876G>A, NM_001278442.1:c.876G>A, XM_005252904.6:c.1278G>A, XM_005252904.5:c.1278G>A, XM_005252904.4:c.1278G>A, XM_005252904.3:c.1278G>A, XM_005252904.2:c.1278G>A, XM_005252904.1:c.1278G>A, NM_006284.4:c.*392C>T, XM_024448499.2:c.1125G>A, XM_024448499.1:c.1125G>A, XM_011520065.2:c.1278G>A, XM_011520065.1:c.1278G>A, XM_024448498.2:c.1125G>A, XM_024448498.1:c.1125G>A, XM_047426885.1:c.876G>A

Select item 144127927215.

rs1441279272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6609620 (GRCh38)
11:6630851 (GRCh37)
Canonical SPDI:: NC_000011.10:6609619:T:C
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6609620T>C, NC_000011.9:g.6630851T>C, NG_029702.1:g.10888T>C, NM_004517.4:c.837T>C, NM_004517.3:c.837T>C, NM_001014795.3:c.837T>C, NM_001014795.2:c.837T>C, NM_001014794.3:c.837T>C, NM_001014794.2:c.837T>C, NM_001278441.2:c.654T>C, NM_001278441.1:c.654T>C, NM_001278442.2:c.435T>C, NM_001278442.1:c.435T>C, XM_005252904.6:c.837T>C, XM_005252904.5:c.837T>C, XM_005252904.4:c.837T>C, XM_005252904.3:c.837T>C, XM_005252904.2:c.837T>C, XM_005252904.1:c.837T>C, NM_006284.4:c.*1302A>G, XM_024448499.2:c.684T>C, XM_024448499.1:c.684T>C, XM_011520065.2:c.837T>C, XM_011520065.1:c.837T>C, XM_024448498.2:c.684T>C, XM_024448498.1:c.684T>C, XM_047426885.1:c.435T>C

Select item 144117497616.

rs1441174976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:6608921 (GRCh38)
11:6630152 (GRCh37)
Canonical SPDI:: NC_000011.10:6608920:T:G
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6608921T>G, NC_000011.9:g.6630152T>G, NG_029702.1:g.10189T>G, NM_004517.4:c.486T>G, NM_004517.3:c.486T>G, NM_001014795.3:c.486T>G, NM_001014795.2:c.486T>G, NM_001014794.3:c.486T>G, NM_001014794.2:c.486T>G, NM_001278441.2:c.389T>G, NM_001278441.1:c.389T>G, NM_001278442.2:c.84T>G, NM_001278442.1:c.84T>G, XM_005252904.6:c.486T>G, XM_005252904.5:c.486T>G, XM_005252904.4:c.486T>G, XM_005252904.3:c.486T>G, XM_005252904.2:c.486T>G, XM_005252904.1:c.486T>G, NM_006284.4:c.*2001A>C, XM_024448499.2:c.333T>G, XM_024448499.1:c.333T>G, XM_011520065.2:c.486T>G, XM_011520065.1:c.486T>G, XM_024448498.2:c.333T>G, XM_024448498.1:c.333T>G, XM_047426885.1:c.84T>G, NP_004508.1:p.Ile162Met, NP_001014795.1:p.Ile162Met, NP_001014794.1:p.Ile162Met, NP_001265370.1:p.Phe130Cys, NP_001265371.1:p.Ile28Met, XP_005252961.1:p.Ile162Met, XP_024304267.1:p.Ile111Met, XP_011518367.1:p.Ile162Met, XP_024304266.1:p.Ile111Met, XP_047282841.1:p.Ile28Met

Select item 143714216317.

rs1437142163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6610221 (GRCh38)
11:6631452 (GRCh37)
Canonical SPDI:: NC_000011.10:6610220:A:C
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6610221A>C, NC_000011.9:g.6631452A>C, NG_029702.1:g.11489A>C, NM_004517.4:c.1152A>C, NM_004517.3:c.1152A>C, NM_001014795.3:c.1152A>C, NM_001014795.2:c.1152A>C, NM_001014794.3:c.1152A>C, NM_001014794.2:c.1152A>C, NM_001278441.2:c.969A>C, NM_001278441.1:c.969A>C, NM_001278442.2:c.750A>C, NM_001278442.1:c.750A>C, XM_005252904.6:c.1152A>C, XM_005252904.5:c.1152A>C, XM_005252904.4:c.1152A>C, XM_005252904.3:c.1152A>C, XM_005252904.2:c.1152A>C, XM_005252904.1:c.1152A>C, NM_006284.4:c.*701T>G, XM_024448499.2:c.999A>C, XM_024448499.1:c.999A>C, XM_011520065.2:c.1152A>C, XM_011520065.1:c.1152A>C, XM_024448498.2:c.999A>C, XM_024448498.1:c.999A>C, XM_047426885.1:c.750A>C, NP_004508.1:p.Glu384Asp, NP_001014795.1:p.Glu384Asp, NP_001014794.1:p.Glu384Asp, NP_001265370.1:p.Glu323Asp, NP_001265371.1:p.Glu250Asp, XP_005252961.1:p.Glu384Asp, XP_024304267.1:p.Glu333Asp, XP_011518367.1:p.Glu384Asp, XP_024304266.1:p.Glu333Asp, XP_047282841.1:p.Glu250Asp

Select item 143612709118.

rs1436127091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6609790 (GRCh38)
11:6631021 (GRCh37)
Canonical SPDI:: NC_000011.10:6609789:T:C
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6609790T>C, NC_000011.9:g.6631021T>C, NG_029702.1:g.11058T>C, NM_004517.4:c.923T>C, NM_004517.3:c.923T>C, NM_001014795.3:c.923T>C, NM_001014795.2:c.923T>C, NM_001014794.3:c.923T>C, NM_001014794.2:c.923T>C, NM_001278441.2:c.740T>C, NM_001278441.1:c.740T>C, NM_001278442.2:c.521T>C, NM_001278442.1:c.521T>C, XM_005252904.6:c.923T>C, XM_005252904.5:c.923T>C, XM_005252904.4:c.923T>C, XM_005252904.3:c.923T>C, XM_005252904.2:c.923T>C, XM_005252904.1:c.923T>C, NM_006284.4:c.*1132A>G, XM_024448499.2:c.770T>C, XM_024448499.1:c.770T>C, XM_011520065.2:c.923T>C, XM_011520065.1:c.923T>C, XM_024448498.2:c.770T>C, XM_024448498.1:c.770T>C, XM_047426885.1:c.521T>C, NP_004508.1:p.Leu308Pro, NP_001014795.1:p.Leu308Pro, NP_001014794.1:p.Leu308Pro, NP_001265370.1:p.Leu247Pro, NP_001265371.1:p.Leu174Pro, XP_005252961.1:p.Leu308Pro, XP_024304267.1:p.Leu257Pro, XP_011518367.1:p.Leu308Pro, XP_024304266.1:p.Leu257Pro, XP_047282841.1:p.Leu174Pro

Select item 143509862219.

rs1435098622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6609075 (GRCh38)
11:6630306 (GRCh37)
Canonical SPDI:: NC_000011.10:6609074:T:C
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6609075T>C, NC_000011.9:g.6630306T>C, NG_029702.1:g.10343T>C, NM_004517.4:c.537T>C, NM_004517.3:c.537T>C, NM_001014795.3:c.537T>C, NM_001014795.2:c.537T>C, NM_001014794.3:c.537T>C, NM_001014794.2:c.537T>C, NM_001278442.2:c.135T>C, NM_001278442.1:c.135T>C, XM_005252904.6:c.537T>C, XM_005252904.5:c.537T>C, XM_005252904.4:c.537T>C, XM_005252904.3:c.537T>C, XM_005252904.2:c.537T>C, XM_005252904.1:c.537T>C, NM_006284.4:c.*1847A>G, XM_024448499.2:c.384T>C, XM_024448499.1:c.384T>C, XM_011520065.2:c.537T>C, XM_011520065.1:c.537T>C, XM_024448498.2:c.384T>C, XM_024448498.1:c.384T>C, XM_047426885.1:c.135T>C

Select item 143383028220.

rs1433830282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAG [Show Flanks]
Chromosome:: 11:6609388 (GRCh38)
11:6630620 (GRCh37)
Canonical SPDI:: NC_000011.10:6609388:GAAGAG:GAAGAGAAGAG
Gene:: ILK (Varview), TAF10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: GAAGA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6609390_6609394dup, NC_000011.9:g.6630621_6630625dup, NG_029702.1:g.10658_10662dup, NM_004517.4:c.710_714dup, NM_004517.3:c.710_714dup, NM_001014795.3:c.710_714dup, NM_001014795.2:c.710_714dup, NM_001014794.3:c.710_714dup, NM_001014794.2:c.710_714dup, NM_001278441.2:c.527_531dup, NM_001278441.1:c.527_531dup, NM_001278442.2:c.308_312dup, NM_001278442.1:c.308_312dup, XM_005252904.6:c.710_714dup, XM_005252904.5:c.710_714dup, XM_005252904.4:c.710_714dup, XM_005252904.3:c.710_714dup, XM_005252904.2:c.710_714dup, XM_005252904.1:c.710_714dup, NM_006284.4:c.*1529_*1533dup, XM_024448499.2:c.557_561dup, XM_024448499.1:c.557_561dup, XM_011520065.2:c.710_714dup, XM_011520065.1:c.710_714dup, XM_024448498.2:c.557_561dup, XM_024448498.1:c.557_561dup, XM_047426885.1:c.308_312dup, NP_004508.1:p.Cys239fs, NP_001014795.1:p.Cys239fs, NP_001014794.1:p.Cys239fs, NP_001265370.1:p.Cys178fs, NP_001265371.1:p.Cys105fs, XP_005252961.1:p.Cys239fs, XP_024304267.1:p.Cys188fs, XP_011518367.1:p.Cys239fs, XP_024304266.1:p.Cys188fs, XP_047282841.1:p.Cys105fs

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