SNP Links for Protein (Select 1034577557) - SNP

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Links from Protein

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Select item 14827379061.

rs1482737906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8995211 (GRCh38)
12:9147807 (GRCh37)
Canonical SPDI:: NC_000012.12:8995210:A:G
Gene:: KLRG1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8995211A>G, NC_000012.11:g.9147807A>G, NM_005810.4:c.280A>G, NM_005810.3:c.280A>G, XM_017018684.2:c.280A>G, XM_017018684.1:c.280A>G, NM_001329102.2:c.43A>G, NM_001329102.1:c.43A>G, NM_001329101.2:c.43A>G, NM_001329101.1:c.43A>G, NM_001329103.2:c.43A>G, NM_001329103.1:c.43A>G, NM_001329099.2:c.280A>G, NM_001329099.1:c.280A>G, XM_017018685.2:c.280A>G, XM_017018685.1:c.280A>G, XM_017018682.2:c.280A>G, XM_017018682.1:c.280A>G, XM_047428075.1:c.229A>G, XM_047428074.1:c.280A>G, NP_005801.3:p.Lys94Glu, XP_016874173.1:p.Lys94Glu, NP_001316031.1:p.Lys15Glu, NP_001316030.1:p.Lys15Glu, NP_001316032.1:p.Lys15Glu, NP_001316028.1:p.Lys94Glu, XP_016874174.1:p.Lys94Glu, XP_016874171.1:p.Lys94Glu, XP_047284031.1:p.Lys77Glu, XP_047284030.1:p.Lys94Glu

Select item 14780334952.

rs1478033495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:9009070 (GRCh38)
12:9161666 (GRCh37)
Canonical SPDI:: NC_000012.12:9009069:C:G
Gene:: KLRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.9009070C>G, NC_000012.11:g.9161666C>G, NM_005810.4:c.453C>G, NM_005810.3:c.453C>G, XM_017018684.2:c.453C>G, XM_017018684.1:c.453C>G, NM_001329102.2:c.216C>G, NM_001329102.1:c.216C>G, NM_001329101.2:c.216C>G, NM_001329101.1:c.216C>G, NM_001329103.2:c.216C>G, NM_001329103.1:c.216C>G, NR_137426.2:n.394C>G, NR_137426.1:n.394C>G, NR_137428.2:n.373C>G, NR_137428.1:n.294C>G, NR_137427.2:n.289C>G, NR_137427.1:n.289C>G, NM_001329099.2:c.453C>G, NM_001329099.1:c.453C>G, XM_017018685.2:c.453C>G, XM_017018685.1:c.453C>G, XM_017018682.2:c.453C>G, XM_017018682.1:c.453C>G, XM_047428075.1:c.402C>G, XM_047428074.1:c.453C>G, NP_005801.3:p.Phe151Leu, XP_016874173.1:p.Phe151Leu, NP_001316031.1:p.Phe72Leu, NP_001316030.1:p.Phe72Leu, NP_001316032.1:p.Phe72Leu, NP_001316028.1:p.Phe151Leu, XP_016874174.1:p.Phe151Leu, XP_016874171.1:p.Phe151Leu, XP_047284031.1:p.Phe134Leu, XP_047284030.1:p.Phe151Leu

Select item 14730940673.

rs1473094067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8995120 (GRCh38)
12:9147716 (GRCh37)
Canonical SPDI:: NC_000012.12:8995119:C:G
Gene:: KLRG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8995120C>G, NC_000012.11:g.9147716C>G, NM_005810.4:c.189C>G, NM_005810.3:c.189C>G, XM_017018684.2:c.189C>G, XM_017018684.1:c.189C>G, NM_001329102.2:c.-49C>G, NM_001329102.1:c.-49C>G, NM_001329101.2:c.-49C>G, NM_001329101.1:c.-49C>G, NM_001329103.2:c.-49C>G, NM_001329103.1:c.-49C>G, NM_001329099.2:c.189C>G, NM_001329099.1:c.189C>G, XM_017018685.2:c.189C>G, XM_017018685.1:c.189C>G, XM_017018682.2:c.189C>G, XM_017018682.1:c.189C>G, XM_047428075.1:c.138C>G, XM_047428074.1:c.189C>G

Select item 14723456054.

rs1472345605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:8995136 (GRCh38)
12:9147732 (GRCh37)
Canonical SPDI:: NC_000012.12:8995135:T:C
Gene:: KLRG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8995136T>C, NC_000012.11:g.9147732T>C, NM_005810.4:c.205T>C, NM_005810.3:c.205T>C, XM_017018684.2:c.205T>C, XM_017018684.1:c.205T>C, NM_001329102.2:c.-33T>C, NM_001329102.1:c.-33T>C, NM_001329101.2:c.-33T>C, NM_001329101.1:c.-33T>C, NM_001329103.2:c.-33T>C, NM_001329103.1:c.-33T>C, NM_001329099.2:c.205T>C, NM_001329099.1:c.205T>C, XM_017018685.2:c.205T>C, XM_017018685.1:c.205T>C, XM_017018682.2:c.205T>C, XM_017018682.1:c.205T>C, XM_047428075.1:c.154T>C, XM_047428074.1:c.205T>C, NP_005801.3:p.Cys69Arg, XP_016874173.1:p.Cys69Arg, NP_001316028.1:p.Cys69Arg, XP_016874174.1:p.Cys69Arg, XP_016874171.1:p.Cys69Arg, XP_047284031.1:p.Cys52Arg, XP_047284030.1:p.Cys69Arg

Select item 14718636365.

rs1471863636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9009483 (GRCh38)
12:9162079 (GRCh37)
Canonical SPDI:: NC_000012.12:9009482:A:G
Gene:: KLRG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.9009483A>G, NC_000012.11:g.9162079A>G, NM_005810.4:c.516A>G, NM_005810.3:c.516A>G, XM_017018684.2:c.516A>G, XM_017018684.1:c.516A>G, NM_001329102.2:c.279A>G, NM_001329102.1:c.279A>G, NM_001329101.2:c.279A>G, NM_001329101.1:c.279A>G, NM_001329103.2:c.279A>G, NM_001329103.1:c.279A>G, NR_137426.2:n.457A>G, NR_137426.1:n.457A>G, NR_137428.2:n.436A>G, NR_137428.1:n.357A>G, NR_137427.2:n.352A>G, NR_137427.1:n.352A>G, NM_001329099.2:c.516A>G, NM_001329099.1:c.516A>G, XM_017018685.2:c.516A>G, XM_017018685.1:c.516A>G, XM_017018682.2:c.516A>G, XM_017018682.1:c.516A>G, XM_047428075.1:c.465A>G, XM_047428074.1:c.516A>G

Select item 14680259856.

rs1468025985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:9058100 (GRCh38)
12:9210696 (GRCh37)
Canonical SPDI:: NC_000012.12:9058099:C:A,NC_000012.12:9058099:C:T
Gene:: KLRG1 (Varview), LINC00612 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.9058100C>A, NC_000012.12:g.9058100C>T, NC_000012.11:g.9210696C>A, NC_000012.11:g.9210696C>T, XM_017018684.2:c.567C>A, XM_017018684.2:c.567C>T, XM_017018684.1:c.567C>A, XM_017018684.1:c.567C>T, XM_017018685.2:c.567C>A, XM_017018685.2:c.567C>T, XM_017018685.1:c.567C>A, XM_017018685.1:c.567C>T, XM_017018682.2:c.567C>A, XM_017018682.2:c.567C>T, XM_017018682.1:c.567C>A, XM_017018682.1:c.567C>T, NR_034140.1:n.1580G>T, NR_034140.1:n.1580G>A, NM_182550.1:c.*832G>T, NM_182550.1:c.*832G>A, NM_001039381.1:c.*832G>T, NM_001039381.1:c.*832G>A, XM_047428074.1:c.567C>A, XM_047428074.1:c.567C>T

Select item 14646613417.

rs1464661341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8992265 (GRCh38)
12:9144861 (GRCh37)
Canonical SPDI:: NC_000012.12:8992264:G:A
Gene:: KLRG1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.8992265G>A, NC_000012.11:g.9144861G>A, NM_005810.4:c.142G>A, NM_005810.3:c.142G>A, XM_017018684.2:c.142G>A, XM_017018684.1:c.142G>A, NM_001329102.2:c.-96G>A, NM_001329102.1:c.-96G>A, NM_001329101.2:c.-96G>A, NM_001329101.1:c.-96G>A, NM_001329103.2:c.-96G>A, NM_001329103.1:c.-96G>A, NR_137426.2:n.253G>A, NR_137426.1:n.253G>A, NR_137428.2:n.232G>A, NR_137428.1:n.153G>A, NM_001329099.2:c.142G>A, NM_001329099.1:c.142G>A, XM_017018685.2:c.142G>A, XM_017018685.1:c.142G>A, XM_017018682.2:c.142G>A, XM_017018682.1:c.142G>A, XM_047428075.1:c.91G>A, XM_047428074.1:c.142G>A, NP_005801.3:p.Ala48Thr, XP_016874173.1:p.Ala48Thr, NP_001316028.1:p.Ala48Thr, XP_016874174.1:p.Ala48Thr, XP_016874171.1:p.Ala48Thr, XP_047284031.1:p.Ala31Thr, XP_047284030.1:p.Ala48Thr

Select item 14630658988.

rs1463065898 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:8995218 (GRCh38)
12:9147814 (GRCh37)
Canonical SPDI:: NC_000012.12:8995217:GG:G
Gene:: KLRG1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000012.12:g.8995219del, NC_000012.11:g.9147815del, NM_005810.4:c.288del, NM_005810.3:c.288del, XM_017018684.2:c.288del, XM_017018684.1:c.288del, NM_001329102.2:c.51del, NM_001329102.1:c.51del, NM_001329101.2:c.51del, NM_001329101.1:c.51del, NM_001329103.2:c.51del, NM_001329103.1:c.51del, NM_001329099.2:c.288del, NM_001329099.1:c.288del, XM_017018685.2:c.288del, XM_017018685.1:c.288del, XM_017018682.2:c.288del, XM_017018682.1:c.288del, XM_047428075.1:c.237del, XM_047428074.1:c.288del, NP_005801.3:p.Asp95_Trp96insTer, XP_016874173.1:p.Asp95_Trp96insTer, NP_001316031.1:p.Asp16_Trp17insTer, NP_001316030.1:p.Asp16_Trp17insTer, NP_001316032.1:p.Asp16_Trp17insTer, NP_001316028.1:p.Asp95_Trp96insTer, XP_016874174.1:p.Asp95_Trp96insTer, XP_016874171.1:p.Asp95_Trp96insTer, XP_047284031.1:p.Asp78_Trp79insTer, XP_047284030.1:p.Asp95_Trp96insTer

Select item 14606696679.

rs1460669667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8989682 (GRCh38)
12:9142278 (GRCh37)
Canonical SPDI:: NC_000012.12:8989681:C:T
Gene:: KLRG1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.8989682C>T, NC_000012.11:g.9142278C>T, NM_005810.4:c.47C>T, NM_005810.3:c.47C>T, XM_017018684.2:c.47C>T, XM_017018684.1:c.47C>T, NR_137428.2:n.137C>T, NR_137428.1:n.58C>T, NM_001329099.2:c.47C>T, NM_001329099.1:c.47C>T, XM_017018685.2:c.47C>T, XM_017018685.1:c.47C>T, XM_017018682.2:c.47C>T, XM_017018682.1:c.47C>T, XM_047428074.1:c.47C>T, NP_005801.3:p.Thr16Ile, XP_016874173.1:p.Thr16Ile, NP_001316028.1:p.Thr16Ile, XP_016874174.1:p.Thr16Ile, XP_016874171.1:p.Thr16Ile, XP_047284030.1:p.Thr16Ile

Select item 144897673310.

rs1448976733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:9009028 (GRCh38)
12:9161624 (GRCh37)
Canonical SPDI:: NC_000012.12:9009027:C:A,NC_000012.12:9009027:C:T
Gene:: KLRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9009028C>A, NC_000012.12:g.9009028C>T, NC_000012.11:g.9161624C>A, NC_000012.11:g.9161624C>T, NM_005810.4:c.411C>A, NM_005810.4:c.411C>T, NM_005810.3:c.411C>A, NM_005810.3:c.411C>T, XM_017018684.2:c.411C>A, XM_017018684.2:c.411C>T, XM_017018684.1:c.411C>A, XM_017018684.1:c.411C>T, NM_001329102.2:c.174C>A, NM_001329102.2:c.174C>T, NM_001329102.1:c.174C>A, NM_001329102.1:c.174C>T, NM_001329101.2:c.174C>A, NM_001329101.2:c.174C>T, NM_001329101.1:c.174C>A, NM_001329101.1:c.174C>T, NM_001329103.2:c.174C>A, NM_001329103.2:c.174C>T, NM_001329103.1:c.174C>A, NM_001329103.1:c.174C>T, NR_137426.2:n.352C>A, NR_137426.2:n.352C>T, NR_137426.1:n.352C>A, NR_137426.1:n.352C>T, NR_137428.2:n.331C>A, NR_137428.2:n.331C>T, NR_137428.1:n.252C>A, NR_137428.1:n.252C>T, NR_137427.2:n.247C>A, NR_137427.2:n.247C>T, NR_137427.1:n.247C>A, NR_137427.1:n.247C>T, NM_001329099.2:c.411C>A, NM_001329099.2:c.411C>T, NM_001329099.1:c.411C>A, NM_001329099.1:c.411C>T, XM_017018685.2:c.411C>A, XM_017018685.2:c.411C>T, XM_017018685.1:c.411C>A, XM_017018685.1:c.411C>T, XM_017018682.2:c.411C>A, XM_017018682.2:c.411C>T, XM_017018682.1:c.411C>A, XM_017018682.1:c.411C>T, XM_047428075.1:c.360C>A, XM_047428075.1:c.360C>T, XM_047428074.1:c.411C>A, XM_047428074.1:c.411C>T, NP_005801.3:p.Asn137Lys, XP_016874173.1:p.Asn137Lys, NP_001316031.1:p.Asn58Lys, NP_001316030.1:p.Asn58Lys, NP_001316032.1:p.Asn58Lys, NP_001316028.1:p.Asn137Lys, XP_016874174.1:p.Asn137Lys, XP_016874171.1:p.Asn137Lys, XP_047284031.1:p.Asn120Lys, XP_047284030.1:p.Asn137Lys

Select item 144804907811.

rs1448049078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:9058106 (GRCh38)
12:9210702 (GRCh37)
Canonical SPDI:: NC_000012.12:9058105:T:A
Gene:: KLRG1 (Varview), LINC00612 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.9058106T>A, NC_000012.11:g.9210702T>A, XM_017018684.2:c.573T>A, XM_017018684.1:c.573T>A, XM_017018685.2:c.573T>A, XM_017018685.1:c.573T>A, XM_017018682.2:c.573T>A, XM_017018682.1:c.573T>A, NR_034140.1:n.1574A>T, NM_182550.1:c.*826A>T, NM_001039381.1:c.*826A>T, XM_047428074.1:c.573T>A, XP_016874173.1:p.His191Gln, XP_016874174.1:p.His191Gln, XP_016874171.1:p.His191Gln, XP_047284030.1:p.His191Gln

Select item 144495228712.

rs1444952287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:8995155 (GRCh38)
12:9147751 (GRCh37)
Canonical SPDI:: NC_000012.12:8995154:G:A,NC_000012.12:8995154:G:T
Gene:: KLRG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8995155G>A, NC_000012.12:g.8995155G>T, NC_000012.11:g.9147751G>A, NC_000012.11:g.9147751G>T, NM_005810.4:c.224G>A, NM_005810.4:c.224G>T, NM_005810.3:c.224G>A, NM_005810.3:c.224G>T, XM_017018684.2:c.224G>A, XM_017018684.2:c.224G>T, XM_017018684.1:c.224G>A, XM_017018684.1:c.224G>T, NM_001329102.2:c.-14G>A, NM_001329102.2:c.-14G>T, NM_001329102.1:c.-14G>A, NM_001329102.1:c.-14G>T, NM_001329101.2:c.-14G>A, NM_001329101.2:c.-14G>T, NM_001329101.1:c.-14G>A, NM_001329101.1:c.-14G>T, NM_001329103.2:c.-14G>A, NM_001329103.2:c.-14G>T, NM_001329103.1:c.-14G>A, NM_001329103.1:c.-14G>T, NM_001329099.2:c.224G>A, NM_001329099.2:c.224G>T, NM_001329099.1:c.224G>A, NM_001329099.1:c.224G>T, XM_017018685.2:c.224G>A, XM_017018685.2:c.224G>T, XM_017018685.1:c.224G>A, XM_017018685.1:c.224G>T, XM_017018682.2:c.224G>A, XM_017018682.2:c.224G>T, XM_017018682.1:c.224G>A, XM_017018682.1:c.224G>T, XM_047428075.1:c.173G>A, XM_047428075.1:c.173G>T, XM_047428074.1:c.224G>A, XM_047428074.1:c.224G>T, NP_005801.3:p.Cys75Tyr, NP_005801.3:p.Cys75Phe, XP_016874173.1:p.Cys75Tyr, XP_016874173.1:p.Cys75Phe, NP_001316028.1:p.Cys75Tyr, NP_001316028.1:p.Cys75Phe, XP_016874174.1:p.Cys75Tyr, XP_016874174.1:p.Cys75Phe, XP_016874171.1:p.Cys75Tyr, XP_016874171.1:p.Cys75Phe, XP_047284031.1:p.Cys58Tyr, XP_047284031.1:p.Cys58Phe, XP_047284030.1:p.Cys75Tyr, XP_047284030.1:p.Cys75Phe

Select item 144124645813.

rs1441246458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9008983 (GRCh38)
12:9161579 (GRCh37)
Canonical SPDI:: NC_000012.12:9008982:C:T
Gene:: KLRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9008983C>T, NC_000012.11:g.9161579C>T, NM_005810.4:c.366C>T, NM_005810.3:c.366C>T, XM_017018684.2:c.366C>T, XM_017018684.1:c.366C>T, NM_001329102.2:c.129C>T, NM_001329102.1:c.129C>T, NM_001329101.2:c.129C>T, NM_001329101.1:c.129C>T, NM_001329103.2:c.129C>T, NM_001329103.1:c.129C>T, NR_137426.2:n.307C>T, NR_137426.1:n.307C>T, NR_137428.2:n.286C>T, NR_137428.1:n.207C>T, NR_137427.2:n.202C>T, NR_137427.1:n.202C>T, NM_001329099.2:c.366C>T, NM_001329099.1:c.366C>T, XM_017018685.2:c.366C>T, XM_017018685.1:c.366C>T, XM_017018682.2:c.366C>T, XM_017018682.1:c.366C>T, XM_047428075.1:c.315C>T, XM_047428074.1:c.366C>T

Select item 142665265014.

rs1426652650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8995122 (GRCh38)
12:9147718 (GRCh37)
Canonical SPDI:: NC_000012.12:8995121:C:T
Gene:: KLRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8995122C>T, NC_000012.11:g.9147718C>T, NM_005810.4:c.191C>T, NM_005810.3:c.191C>T, XM_017018684.2:c.191C>T, XM_017018684.1:c.191C>T, NM_001329102.2:c.-47C>T, NM_001329102.1:c.-47C>T, NM_001329101.2:c.-47C>T, NM_001329101.1:c.-47C>T, NM_001329103.2:c.-47C>T, NM_001329103.1:c.-47C>T, NM_001329099.2:c.191C>T, NM_001329099.1:c.191C>T, XM_017018685.2:c.191C>T, XM_017018685.1:c.191C>T, XM_017018682.2:c.191C>T, XM_017018682.1:c.191C>T, XM_047428075.1:c.140C>T, XM_047428074.1:c.191C>T, NP_005801.3:p.Ser64Phe, XP_016874173.1:p.Ser64Phe, NP_001316028.1:p.Ser64Phe, XP_016874174.1:p.Ser64Phe, XP_016874171.1:p.Ser64Phe, XP_047284031.1:p.Ser47Phe, XP_047284030.1:p.Ser64Phe

Select item 141460369515.

rs1414603695 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:9008992 (GRCh38)
12:9161588 (GRCh37)
Canonical SPDI:: NC_000012.12:9008991:CC:C
Gene:: KLRG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.9008993del, NC_000012.11:g.9161589del, NM_005810.4:c.376del, NM_005810.3:c.376del, XM_017018684.2:c.376del, XM_017018684.1:c.376del, NM_001329102.2:c.139del, NM_001329102.1:c.139del, NM_001329101.2:c.139del, NM_001329101.1:c.139del, NM_001329103.2:c.139del, NM_001329103.1:c.139del, NR_137426.2:n.317del, NR_137426.1:n.317del, NR_137428.2:n.296del, NR_137428.1:n.217del, NR_137427.2:n.212del, NR_137427.1:n.212del, NM_001329099.2:c.376del, NM_001329099.1:c.376del, XM_017018685.2:c.376del, XM_017018685.1:c.376del, XM_017018682.2:c.376del, XM_017018682.1:c.376del, XM_047428075.1:c.325del, XM_047428074.1:c.376del, NP_005801.3:p.Leu126fs, XP_016874173.1:p.Leu126fs, NP_001316031.1:p.Leu47fs, NP_001316030.1:p.Leu47fs, NP_001316032.1:p.Leu47fs, NP_001316028.1:p.Leu126fs, XP_016874174.1:p.Leu126fs, XP_016874171.1:p.Leu126fs, XP_047284031.1:p.Leu109fs, XP_047284030.1:p.Leu126fs

Select item 140675419716.

rs1406754197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8995184 (GRCh38)
12:9147780 (GRCh37)
Canonical SPDI:: NC_000012.12:8995183:C:G
Gene:: KLRG1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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.8995184C>G, NC_000012.11:g.9147780C>G, NM_005810.4:c.253C>G, NM_005810.3:c.253C>G, XM_017018684.2:c.253C>G, XM_017018684.1:c.253C>G, NM_001329102.2:c.16C>G, NM_001329102.1:c.16C>G, NM_001329101.2:c.16C>G, NM_001329101.1:c.16C>G, NM_001329103.2:c.16C>G, NM_001329103.1:c.16C>G, NM_001329099.2:c.253C>G, NM_001329099.1:c.253C>G, XM_017018685.2:c.253C>G, XM_017018685.1:c.253C>G, XM_017018682.2:c.253C>G, XM_017018682.1:c.253C>G, XM_047428075.1:c.202C>G, XM_047428074.1:c.253C>G, NP_005801.3:p.His85Asp, XP_016874173.1:p.His85Asp, NP_001316031.1:p.His6Asp, NP_001316030.1:p.His6Asp, NP_001316032.1:p.His6Asp, NP_001316028.1:p.His85Asp, XP_016874174.1:p.His85Asp, XP_016874171.1:p.His85Asp, XP_047284031.1:p.His68Asp, XP_047284030.1:p.His85Asp

Select item 139622963717.

rs1396229637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9009068 (GRCh38)
12:9161664 (GRCh37)
Canonical SPDI:: NC_000012.12:9009067:T:C
Gene:: KLRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.9009068T>C, NC_000012.11:g.9161664T>C, NM_005810.4:c.451T>C, NM_005810.3:c.451T>C, XM_017018684.2:c.451T>C, XM_017018684.1:c.451T>C, NM_001329102.2:c.214T>C, NM_001329102.1:c.214T>C, NM_001329101.2:c.214T>C, NM_001329101.1:c.214T>C, NM_001329103.2:c.214T>C, NM_001329103.1:c.214T>C, NR_137426.2:n.392T>C, NR_137426.1:n.392T>C, NR_137428.2:n.371T>C, NR_137428.1:n.292T>C, NR_137427.2:n.287T>C, NR_137427.1:n.287T>C, NM_001329099.2:c.451T>C, NM_001329099.1:c.451T>C, XM_017018685.2:c.451T>C, XM_017018685.1:c.451T>C, XM_017018682.2:c.451T>C, XM_017018682.1:c.451T>C, XM_047428075.1:c.400T>C, XM_047428074.1:c.451T>C, NP_005801.3:p.Phe151Leu, XP_016874173.1:p.Phe151Leu, NP_001316031.1:p.Phe72Leu, NP_001316030.1:p.Phe72Leu, NP_001316032.1:p.Phe72Leu, NP_001316028.1:p.Phe151Leu, XP_016874174.1:p.Phe151Leu, XP_016874171.1:p.Phe151Leu, XP_047284031.1:p.Phe134Leu, XP_047284030.1:p.Phe151Leu

Select item 138820209518.

rs1388202095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8992234 (GRCh38)
12:9144830 (GRCh37)
Canonical SPDI:: NC_000012.12:8992233:C:T
Gene:: KLRG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8992234C>T, NC_000012.11:g.9144830C>T, NM_005810.4:c.111C>T, NM_005810.3:c.111C>T, XM_017018684.2:c.111C>T, XM_017018684.1:c.111C>T, NM_001329102.2:c.-127C>T, NM_001329102.1:c.-127C>T, NM_001329101.2:c.-127C>T, NM_001329101.1:c.-127C>T, NM_001329103.2:c.-127C>T, NM_001329103.1:c.-127C>T, NR_137426.2:n.222C>T, NR_137426.1:n.222C>T, NR_137428.2:n.201C>T, NR_137428.1:n.122C>T, NM_001329099.2:c.111C>T, NM_001329099.1:c.111C>T, XM_017018685.2:c.111C>T, XM_017018685.1:c.111C>T, XM_017018682.2:c.111C>T, XM_017018682.1:c.111C>T, XM_047428075.1:c.60C>T, XM_047428074.1:c.111C>T

Select item 138595464219.

rs1385954642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:8992274 (GRCh38)
12:9144870 (GRCh37)
Canonical SPDI:: NC_000012.12:8992273:C:A
Gene:: KLRG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8992274C>A, NC_000012.11:g.9144870C>A, NM_005810.4:c.151C>A, NM_005810.3:c.151C>A, XM_017018684.2:c.151C>A, XM_017018684.1:c.151C>A, NM_001329102.2:c.-87C>A, NM_001329102.1:c.-87C>A, NM_001329101.2:c.-87C>A, NM_001329101.1:c.-87C>A, NM_001329103.2:c.-87C>A, NM_001329103.1:c.-87C>A, NR_137426.2:n.262C>A, NR_137426.1:n.262C>A, NR_137428.2:n.241C>A, NR_137428.1:n.162C>A, NM_001329099.2:c.151C>A, NM_001329099.1:c.151C>A, XM_017018685.2:c.151C>A, XM_017018685.1:c.151C>A, XM_017018682.2:c.151C>A, XM_017018682.1:c.151C>A, XM_047428075.1:c.100C>A, XM_047428074.1:c.151C>A, NP_005801.3:p.Leu51Met, XP_016874173.1:p.Leu51Met, NP_001316028.1:p.Leu51Met, XP_016874174.1:p.Leu51Met, XP_016874171.1:p.Leu51Met, XP_047284031.1:p.Leu34Met, XP_047284030.1:p.Leu51Met

Select item 138310256820.

rs1383102568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8995239 (GRCh38)
12:9147835 (GRCh37)
Canonical SPDI:: NC_000012.12:8995238:G:A,NC_000012.12:8995238:G:C
Gene:: KLRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.8995239G>A, NC_000012.12:g.8995239G>C, NC_000012.11:g.9147835G>A, NC_000012.11:g.9147835G>C, NM_005810.4:c.308G>A, NM_005810.4:c.308G>C, NM_005810.3:c.308G>A, NM_005810.3:c.308G>C, XM_017018684.2:c.308G>A, XM_017018684.2:c.308G>C, XM_017018684.1:c.308G>A, XM_017018684.1:c.308G>C, NM_001329102.2:c.71G>A, NM_001329102.2:c.71G>C, NM_001329102.1:c.71G>A, NM_001329102.1:c.71G>C, NM_001329101.2:c.71G>A, NM_001329101.2:c.71G>C, NM_001329101.1:c.71G>A, NM_001329101.1:c.71G>C, NM_001329103.2:c.71G>A, NM_001329103.2:c.71G>C, NM_001329103.1:c.71G>A, NM_001329103.1:c.71G>C, NM_001329099.2:c.308G>A, NM_001329099.2:c.308G>C, NM_001329099.1:c.308G>A, NM_001329099.1:c.308G>C, XM_017018685.2:c.308G>A, XM_017018685.2:c.308G>C, XM_017018685.1:c.308G>A, XM_017018685.1:c.308G>C, XM_017018682.2:c.308G>A, XM_017018682.2:c.308G>C, XM_017018682.1:c.308G>A, XM_017018682.1:c.308G>C, XM_047428075.1:c.257G>A, XM_047428075.1:c.257G>C, XM_047428074.1:c.308G>A, XM_047428074.1:c.308G>C, NP_005801.3:p.Cys103Tyr, NP_005801.3:p.Cys103Ser, XP_016874173.1:p.Cys103Tyr, XP_016874173.1:p.Cys103Ser, NP_001316031.1:p.Cys24Tyr, NP_001316031.1:p.Cys24Ser, NP_001316030.1:p.Cys24Tyr, NP_001316030.1:p.Cys24Ser, NP_001316032.1:p.Cys24Tyr, NP_001316032.1:p.Cys24Ser, NP_001316028.1:p.Cys103Tyr, NP_001316028.1:p.Cys103Ser, XP_016874174.1:p.Cys103Tyr, XP_016874174.1:p.Cys103Ser, XP_016874171.1:p.Cys103Tyr, XP_016874171.1:p.Cys103Ser, XP_047284031.1:p.Cys86Tyr, XP_047284031.1:p.Cys86Ser, XP_047284030.1:p.Cys103Tyr, XP_047284030.1:p.Cys103Ser

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