SNP Links for Protein (Select 530400116) - SNP

Links from Protein

Items: 1 to 20 of 532

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Select item 14869520291.

rs1486952029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64488570 (GRCh38)
12:64882350 (GRCh37)
Canonical SPDI:: NC_000012.12:64488569:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.64488570T>C, NC_000012.11:g.64882350T>C, NG_046906.1:g.41511T>C, NM_013254.4:c.1424T>C, NM_013254.3:c.1424T>C, XM_005268810.2:c.1424T>C, XM_005268810.1:c.1424T>C, XM_005268809.2:c.1424T>C, XM_005268809.1:c.1424T>C, XR_007063071.1:n.1523T>C, NP_037386.1:p.Ile475Thr, XP_005268867.1:p.Ile475Thr, XP_005268866.1:p.Ile475Thr

Select item 14848205562.

rs1484820556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64484413 (GRCh38)
12:64878193 (GRCh37)
Canonical SPDI:: NC_000012.12:64484412:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.64484413A>G, NC_000012.11:g.64878193A>G, NG_046906.1:g.37354A>G, NM_013254.4:c.1103A>G, NM_013254.3:c.1103A>G, XM_005268810.2:c.1103A>G, XM_005268810.1:c.1103A>G, XM_005268809.2:c.1103A>G, XM_005268809.1:c.1103A>G, XR_007063071.1:n.1202A>G, NP_037386.1:p.Gln368Arg, XP_005268867.1:p.Gln368Arg, XP_005268866.1:p.Gln368Arg

Select item 14813815833.

rs1481381583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64464376 (GRCh38)
12:64858156 (GRCh37)
Canonical SPDI:: NC_000012.12:64464375:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64464376T>C, NC_000012.11:g.64858156T>C, NG_046906.1:g.17317T>C, NM_013254.4:c.271T>C, NM_013254.3:c.271T>C, XM_005268810.2:c.271T>C, XM_005268810.1:c.271T>C, XM_005268809.2:c.271T>C, XM_005268809.1:c.271T>C, XR_007063071.1:n.370T>C, NP_037386.1:p.Cys91Arg, XP_005268867.1:p.Cys91Arg, XP_005268866.1:p.Cys91Arg

Select item 14771738794.

rs1477173879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:64484339 (GRCh38)
12:64878119 (GRCh37)
Canonical SPDI:: NC_000012.12:64484338:C:T
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64484339C>T, NC_000012.11:g.64878119C>T, NG_046906.1:g.37280C>T, NM_013254.4:c.1029C>T, NM_013254.3:c.1029C>T, XM_005268810.2:c.1029C>T, XM_005268810.1:c.1029C>T, XM_005268809.2:c.1029C>T, XM_005268809.1:c.1029C>T, XR_007063071.1:n.1128C>T

Select item 14769193905.

rs1476919390 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGA>- [Show Flanks]
Chromosome:: 12:64488531 (GRCh38)
12:64882311 (GRCh37)
Canonical SPDI:: NC_000012.12:64488527:AGACAGA:AGA
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.64488531_64488534del, NC_000012.11:g.64882311_64882314del, NG_046906.1:g.41472_41475del, NM_013254.4:c.1385_1388del, NM_013254.3:c.1385_1388del, XM_005268810.2:c.1385_1388del, XM_005268810.1:c.1385_1388del, XM_005268809.2:c.1385_1388del, XM_005268809.1:c.1385_1388del, XR_007063071.1:n.1484_1487del, NP_037386.1:p.Thr462fs, XP_005268867.1:p.Thr462fs, XP_005268866.1:p.Thr462fs

Select item 14746653016.

rs1474665301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:64495593 (GRCh38)
12:64889373 (GRCh37)
Canonical SPDI:: NC_000012.12:64495592:G:A
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64495593G>A, NC_000012.11:g.64889373G>A, NG_046906.1:g.48534G>A, NM_013254.4:c.1632G>A, NM_013254.3:c.1632G>A, XM_005268810.2:c.1632G>A, XM_005268810.1:c.1632G>A, XM_005268809.2:c.1632G>A, XM_005268809.1:c.1632G>A, XR_007063071.1:n.1731G>A

Select item 14744279107.

rs1474427910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64482009 (GRCh38)
12:64875789 (GRCh37)
Canonical SPDI:: NC_000012.12:64482008:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.64482009A>G, NC_000012.11:g.64875789A>G, NG_046906.1:g.34950A>G, NM_013254.4:c.980A>G, NM_013254.3:c.980A>G, XM_005268810.2:c.980A>G, XM_005268810.1:c.980A>G, XM_005268809.2:c.980A>G, XM_005268809.1:c.980A>G, XR_007063071.1:n.1079A>G, NP_037386.1:p.His327Arg, XP_005268867.1:p.His327Arg, XP_005268866.1:p.His327Arg

Select item 14702724778.

rs1470272477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:64495561 (GRCh38)
12:64889341 (GRCh37)
Canonical SPDI:: NC_000012.12:64495560:G:C
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.64495561G>C, NC_000012.11:g.64889341G>C, NG_046906.1:g.48502G>C, NM_013254.4:c.1600G>C, NM_013254.3:c.1600G>C, XM_005268810.2:c.1600G>C, XM_005268810.1:c.1600G>C, XM_005268809.2:c.1600G>C, XM_005268809.1:c.1600G>C, XR_007063071.1:n.1699G>C, NP_037386.1:p.Asp534His, XP_005268867.1:p.Asp534His, XP_005268866.1:p.Asp534His

Select item 14693171169.

rs1469317116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:64501357 (GRCh38)
12:64895137 (GRCh37)
Canonical SPDI:: NC_000012.12:64501356:C:A,NC_000012.12:64501356:C:T
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64501357C>A, NC_000012.12:g.64501357C>T, NC_000012.11:g.64895137C>A, NC_000012.11:g.64895137C>T, NG_046906.1:g.54298C>A, NG_046906.1:g.54298C>T, NM_013254.4:c.2166C>A, NM_013254.4:c.2166C>T, NM_013254.3:c.2166C>A, NM_013254.3:c.2166C>T, XM_005268810.2:c.2166C>A, XM_005268810.2:c.2166C>T, XM_005268810.1:c.2166C>A, XM_005268810.1:c.2166C>T, XM_005268809.2:c.2166C>A, XM_005268809.2:c.2166C>T, XM_005268809.1:c.2166C>A, XM_005268809.1:c.2166C>T

Select item 146636466710.

rs1466364667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64488494 (GRCh38)
12:64882274 (GRCh37)
Canonical SPDI:: NC_000012.12:64488493:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64488494A>G, NC_000012.11:g.64882274A>G, NG_046906.1:g.41435A>G, NM_013254.4:c.1348A>G, NM_013254.3:c.1348A>G, XM_005268810.2:c.1348A>G, XM_005268810.1:c.1348A>G, XM_005268809.2:c.1348A>G, XM_005268809.1:c.1348A>G, XR_007063071.1:n.1447A>G, NP_037386.1:p.Ile450Val, XP_005268867.1:p.Ile450Val, XP_005268866.1:p.Ile450Val

Select item 146398592711.

rs1463985927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64497976 (GRCh38)
12:64891756 (GRCh37)
Canonical SPDI:: NC_000012.12:64497975:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.64497976A>G, NC_000012.11:g.64891756A>G, NG_046906.1:g.50917A>G, NM_013254.4:c.2075A>G, NM_013254.3:c.2075A>G, XM_005268810.2:c.2075A>G, XM_005268810.1:c.2075A>G, XM_005268809.2:c.2075A>G, XM_005268809.1:c.2075A>G, NP_037386.1:p.Lys692Arg, XP_005268867.1:p.Lys692Arg, XP_005268866.1:p.Lys692Arg

Select item 146275893412.

rs1462758934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64497255 (GRCh38)
12:64891035 (GRCh37)
Canonical SPDI:: NC_000012.12:64497254:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000012.12:g.64497255A>G, NC_000012.11:g.64891035A>G, NG_046906.1:g.50196A>G, NM_013254.4:c.1955A>G, NM_013254.3:c.1955A>G, XM_005268810.2:c.1955A>G, XM_005268810.1:c.1955A>G, XM_005268809.2:c.1955A>G, XM_005268809.1:c.1955A>G, NP_037386.1:p.Asn652Ser, XP_005268867.1:p.Asn652Ser, XP_005268866.1:p.Asn652Ser

Select item 146239299713.

rs1462392997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:64501372 (GRCh38)
12:64895152 (GRCh37)
Canonical SPDI:: NC_000012.12:64501371:C:T
Gene:: TBK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.64501372C>T, NC_000012.11:g.64895152C>T, NG_046906.1:g.54313C>T, NM_013254.4:c.2181C>T, NM_013254.3:c.2181C>T, XM_005268810.2:c.2181C>T, XM_005268810.1:c.2181C>T, XM_005268809.2:c.2181C>T, XM_005268809.1:c.2181C>T

Select item 146062739014.

rs1460627390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:64495512 (GRCh38)
12:64889292 (GRCh37)
Canonical SPDI:: NC_000012.12:64495511:C:T
Gene:: TBK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.64495512C>T, NC_000012.11:g.64889292C>T, NG_046906.1:g.48453C>T, NM_013254.4:c.1551C>T, NM_013254.3:c.1551C>T, XM_005268810.2:c.1551C>T, XM_005268810.1:c.1551C>T, XM_005268809.2:c.1551C>T, XM_005268809.1:c.1551C>T, XR_007063071.1:n.1650C>T

Select item 146041703315.

rs1460417033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64460301 (GRCh38)
12:64854081 (GRCh37)
Canonical SPDI:: NC_000012.12:64460300:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000013/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.64460301T>C, NC_000012.11:g.64854081T>C, NG_046906.1:g.13242T>C, NM_013254.4:c.200T>C, NM_013254.3:c.200T>C, XM_005268810.2:c.200T>C, XM_005268810.1:c.200T>C, XM_005268809.2:c.200T>C, XM_005268809.1:c.200T>C, XR_007063071.1:n.299T>C, NP_037386.1:p.Ile67Thr, XP_005268867.1:p.Ile67Thr, XP_005268866.1:p.Ile67Thr

Select item 145790486916.

rs1457904869 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:64481900 (GRCh38)
12:64875680 (GRCh37)
Canonical SPDI:: NC_000012.12:64481897:AAAA:AA
Gene:: TBK1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64481900_64481901del, NC_000012.11:g.64875680_64875681del, NG_046906.1:g.34841_34842del, NM_013254.4:c.871_872del, NM_013254.3:c.871_872del, XM_005268810.2:c.871_872del, XM_005268810.1:c.871_872del, XM_005268809.2:c.871_872del, XM_005268809.1:c.871_872del, XR_007063071.1:n.970_971del, NP_037386.1:p.Lys291fs, XP_005268867.1:p.Lys291fs, XP_005268866.1:p.Lys291fs

Select item 145735880117.

rs1457358801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:64474331 (GRCh38)
12:64868111 (GRCh37)
Canonical SPDI:: NC_000012.12:64474330:A:T
Gene:: TBK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64474331A>T, NC_000012.11:g.64868111A>T, NG_046906.1:g.27272A>T, NM_013254.4:c.642A>T, NM_013254.3:c.642A>T, XM_005268810.2:c.642A>T, XM_005268810.1:c.642A>T, XM_005268809.2:c.642A>T, XM_005268809.1:c.642A>T, XR_007063071.1:n.741A>T

Select item 145676331518.

rs1456763315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64497715 (GRCh38)
12:64891495 (GRCh37)
Canonical SPDI:: NC_000012.12:64497714:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.64497715T>C, NC_000012.11:g.64891495T>C, NG_046906.1:g.50656T>C, NM_013254.4:c.2027T>C, NM_013254.3:c.2027T>C, XM_005268810.2:c.2027T>C, XM_005268810.1:c.2027T>C, XM_005268809.2:c.2027T>C, XM_005268809.1:c.2027T>C, NP_037386.1:p.Ile676Thr, XP_005268867.1:p.Ile676Thr, XP_005268866.1:p.Ile676Thr

Select item 145559429019.

rs1455594290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:64501350 (GRCh38)
12:64895130 (GRCh37)
Canonical SPDI:: NC_000012.12:64501349:A:G
Gene:: TBK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.64501350A>G, NC_000012.11:g.64895130A>G, NG_046906.1:g.54291A>G, NM_013254.4:c.2159A>G, NM_013254.3:c.2159A>G, XM_005268810.2:c.2159A>G, XM_005268810.1:c.2159A>G, XM_005268809.2:c.2159A>G, XM_005268809.1:c.2159A>G, NP_037386.1:p.Asp720Gly, XP_005268867.1:p.Asp720Gly, XP_005268866.1:p.Asp720Gly

Select item 144782219320.

rs1447822193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64497191 (GRCh38)
12:64890971 (GRCh37)
Canonical SPDI:: NC_000012.12:64497190:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.64497191T>C, NC_000012.11:g.64890971T>C, NG_046906.1:g.50132T>C, NM_013254.4:c.1891T>C, NM_013254.3:c.1891T>C, XM_005268810.2:c.1891T>C, XM_005268810.1:c.1891T>C, XM_005268809.2:c.1891T>C, XM_005268809.1:c.1891T>C

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