SNP Links for Protein (Select 578819365) - SNP

Links from Protein

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Select item 14898273501.

rs1489827350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80163571 (GRCh38)
10:81923327 (GRCh37)
Canonical SPDI:: NC_000010.11:80163570:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.80163571G>A, NC_000010.10:g.81923327G>A, XM_005269741.5:c.1292C>T, XM_005269741.4:c.1292C>T, XM_005269741.3:c.1292C>T, XM_005269741.2:c.1292C>T, XM_005269741.1:c.1292C>T, NM_001157.3:c.992C>T, NM_001157.2:c.992C>T, XM_006717813.3:c.992C>T, XM_006717813.2:c.992C>T, XM_006717813.1:c.992C>T, NM_001278408.2:c.992C>T, NM_001278408.1:c.992C>T, NM_001278409.2:c.893C>T, NM_001278409.1:c.893C>T, NM_145869.2:c.992C>T, NM_145869.1:c.992C>T, NM_001278407.2:c.992C>T, NM_001278407.1:c.992C>T, NM_145868.2:c.992C>T, NM_145868.1:c.992C>T, XM_005269742.2:c.992C>T, XM_005269742.1:c.992C>T, XM_047425141.1:c.992C>T, XM_047425140.1:c.992C>T, XP_005269798.1:p.Ser431Leu, NP_001148.1:p.Ser331Leu, XP_006717876.1:p.Ser331Leu, NP_001265337.1:p.Ser331Leu, NP_001265338.1:p.Ser298Leu, NP_665876.1:p.Ser331Leu, NP_001265336.1:p.Ser331Leu, NP_665875.1:p.Ser331Leu, XP_005269799.1:p.Ser331Leu, XP_047281097.1:p.Ser331Leu, XP_047281096.1:p.Ser331Leu

Select item 14879226502.

rs1487922650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80169238 (GRCh38)
10:81928994 (GRCh37)
Canonical SPDI:: NC_000010.11:80169237:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80169238G>A, NC_000010.10:g.81928994G>A, XM_005269741.5:c.592C>T, XM_005269741.4:c.592C>T, XM_005269741.3:c.592C>T, XM_005269741.2:c.592C>T, XM_005269741.1:c.592C>T, NM_001157.3:c.292C>T, NM_001157.2:c.292C>T, XM_006717813.3:c.292C>T, XM_006717813.2:c.292C>T, XM_006717813.1:c.292C>T, NM_001278408.2:c.292C>T, NM_001278408.1:c.292C>T, NM_001278409.2:c.193C>T, NM_001278409.1:c.193C>T, NM_145869.2:c.292C>T, NM_145869.1:c.292C>T, NM_001278407.2:c.292C>T, NM_001278407.1:c.292C>T, NM_145868.2:c.292C>T, NM_145868.1:c.292C>T, XM_005269742.2:c.292C>T, XM_005269742.1:c.292C>T, XM_047425141.1:c.292C>T, XM_047425140.1:c.292C>T, XP_005269798.1:p.Gln198Ter, NP_001148.1:p.Gln98Ter, XP_006717876.1:p.Gln98Ter, NP_001265337.1:p.Gln98Ter, NP_001265338.1:p.Gln65Ter, NP_665876.1:p.Gln98Ter, NP_001265336.1:p.Gln98Ter, NP_665875.1:p.Gln98Ter, XP_005269799.1:p.Gln98Ter, XP_047281097.1:p.Gln98Ter, XP_047281096.1:p.Gln98Ter

Select item 14869783673.

rs1486978367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80166929 (GRCh38)
10:81926685 (GRCh37)
Canonical SPDI:: NC_000010.11:80166928:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.80166929C>T, NC_000010.10:g.81926685C>T, XM_005269741.5:c.1005G>A, XM_005269741.4:c.1005G>A, XM_005269741.3:c.1005G>A, XM_005269741.2:c.1005G>A, XM_005269741.1:c.1005G>A, NM_001157.3:c.705G>A, NM_001157.2:c.705G>A, XM_006717813.3:c.705G>A, XM_006717813.2:c.705G>A, XM_006717813.1:c.705G>A, NM_001278408.2:c.705G>A, NM_001278408.1:c.705G>A, NM_001278409.2:c.606G>A, NM_001278409.1:c.606G>A, NM_145869.2:c.705G>A, NM_145869.1:c.705G>A, NM_001278407.2:c.705G>A, NM_001278407.1:c.705G>A, NM_145868.2:c.705G>A, NM_145868.1:c.705G>A, XM_005269742.2:c.705G>A, XM_005269742.1:c.705G>A, XM_047425141.1:c.705G>A, XM_047425140.1:c.705G>A

Select item 14865662294.

rs1486566229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80169109 (GRCh38)
10:81928865 (GRCh37)
Canonical SPDI:: NC_000010.11:80169108:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.80169109G>A, NC_000010.10:g.81928865G>A, XM_005269741.5:c.721C>T, XM_005269741.4:c.721C>T, XM_005269741.3:c.721C>T, XM_005269741.2:c.721C>T, XM_005269741.1:c.721C>T, NM_001157.3:c.421C>T, NM_001157.2:c.421C>T, XM_006717813.3:c.421C>T, XM_006717813.2:c.421C>T, XM_006717813.1:c.421C>T, NM_001278408.2:c.421C>T, NM_001278408.1:c.421C>T, NM_001278409.2:c.322C>T, NM_001278409.1:c.322C>T, NM_145869.2:c.421C>T, NM_145869.1:c.421C>T, NM_001278407.2:c.421C>T, NM_001278407.1:c.421C>T, NM_145868.2:c.421C>T, NM_145868.1:c.421C>T, XM_005269742.2:c.421C>T, XM_005269742.1:c.421C>T, XM_047425141.1:c.421C>T, XM_047425140.1:c.421C>T, XP_005269798.1:p.Pro241Ser, NP_001148.1:p.Pro141Ser, XP_006717876.1:p.Pro141Ser, NP_001265337.1:p.Pro141Ser, NP_001265338.1:p.Pro108Ser, NP_665876.1:p.Pro141Ser, NP_001265336.1:p.Pro141Ser, NP_665875.1:p.Pro141Ser, XP_005269799.1:p.Pro141Ser, XP_047281097.1:p.Pro141Ser, XP_047281096.1:p.Pro141Ser

Select item 14854120825.

rs1485412082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:80163566 (GRCh38)
10:81923322 (GRCh37)
Canonical SPDI:: NC_000010.11:80163565:G:A,NC_000010.11:80163565:G:C
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.80163566G>A, NC_000010.11:g.80163566G>C, NC_000010.10:g.81923322G>A, NC_000010.10:g.81923322G>C, XM_005269741.5:c.1297C>T, XM_005269741.5:c.1297C>G, XM_005269741.4:c.1297C>T, XM_005269741.4:c.1297C>G, XM_005269741.3:c.1297C>T, XM_005269741.3:c.1297C>G, XM_005269741.2:c.1297C>T, XM_005269741.2:c.1297C>G, XM_005269741.1:c.1297C>T, XM_005269741.1:c.1297C>G, NM_001157.3:c.997C>T, NM_001157.3:c.997C>G, NM_001157.2:c.997C>T, NM_001157.2:c.997C>G, XM_006717813.3:c.997C>T, XM_006717813.3:c.997C>G, XM_006717813.2:c.997C>T, XM_006717813.2:c.997C>G, XM_006717813.1:c.997C>T, XM_006717813.1:c.997C>G, NM_001278408.2:c.997C>T, NM_001278408.2:c.997C>G, NM_001278408.1:c.997C>T, NM_001278408.1:c.997C>G, NM_001278409.2:c.898C>T, NM_001278409.2:c.898C>G, NM_001278409.1:c.898C>T, NM_001278409.1:c.898C>G, NM_145869.2:c.997C>T, NM_145869.2:c.997C>G, NM_145869.1:c.997C>T, NM_145869.1:c.997C>G, NM_001278407.2:c.997C>T, NM_001278407.2:c.997C>G, NM_001278407.1:c.997C>T, NM_001278407.1:c.997C>G, NM_145868.2:c.997C>T, NM_145868.2:c.997C>G, NM_145868.1:c.997C>T, NM_145868.1:c.997C>G, XM_005269742.2:c.997C>T, XM_005269742.2:c.997C>G, XM_005269742.1:c.997C>T, XM_005269742.1:c.997C>G, XM_047425141.1:c.997C>T, XM_047425141.1:c.997C>G, XM_047425140.1:c.997C>T, XM_047425140.1:c.997C>G, XP_005269798.1:p.His433Tyr, XP_005269798.1:p.His433Asp, NP_001148.1:p.His333Tyr, NP_001148.1:p.His333Asp, XP_006717876.1:p.His333Tyr, XP_006717876.1:p.His333Asp, NP_001265337.1:p.His333Tyr, NP_001265337.1:p.His333Asp, NP_001265338.1:p.His300Tyr, NP_001265338.1:p.His300Asp, NP_665876.1:p.His333Tyr, NP_665876.1:p.His333Asp, NP_001265336.1:p.His333Tyr, NP_001265336.1:p.His333Asp, NP_665875.1:p.His333Tyr, NP_665875.1:p.His333Asp, XP_005269799.1:p.His333Tyr, XP_005269799.1:p.His333Asp, XP_047281097.1:p.His333Tyr, XP_047281097.1:p.His333Asp, XP_047281096.1:p.His333Tyr, XP_047281096.1:p.His333Asp

Select item 14821182686.

rs1482118268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80163569 (GRCh38)
10:81923325 (GRCh37)
Canonical SPDI:: NC_000010.11:80163568:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.80163569C>T, NC_000010.10:g.81923325C>T, XM_005269741.5:c.1294G>A, XM_005269741.4:c.1294G>A, XM_005269741.3:c.1294G>A, XM_005269741.2:c.1294G>A, XM_005269741.1:c.1294G>A, NM_001157.3:c.994G>A, NM_001157.2:c.994G>A, XM_006717813.3:c.994G>A, XM_006717813.2:c.994G>A, XM_006717813.1:c.994G>A, NM_001278408.2:c.994G>A, NM_001278408.1:c.994G>A, NM_001278409.2:c.895G>A, NM_001278409.1:c.895G>A, NM_145869.2:c.994G>A, NM_145869.1:c.994G>A, NM_001278407.2:c.994G>A, NM_001278407.1:c.994G>A, NM_145868.2:c.994G>A, NM_145868.1:c.994G>A, XM_005269742.2:c.994G>A, XM_005269742.1:c.994G>A, XM_047425141.1:c.994G>A, XM_047425140.1:c.994G>A, XP_005269798.1:p.Gly432Arg, NP_001148.1:p.Gly332Arg, XP_006717876.1:p.Gly332Arg, NP_001265337.1:p.Gly332Arg, NP_001265338.1:p.Gly299Arg, NP_665876.1:p.Gly332Arg, NP_001265336.1:p.Gly332Arg, NP_665875.1:p.Gly332Arg, XP_005269799.1:p.Gly332Arg, XP_047281097.1:p.Gly332Arg, XP_047281096.1:p.Gly332Arg

Select item 14800595287.

rs1480059528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80157990 (GRCh38)
10:81917746 (GRCh37)
Canonical SPDI:: NC_000010.11:80157989:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.80157990C>T, NC_000010.10:g.81917746C>T, XM_005269741.5:c.1612G>A, XM_005269741.4:c.1612G>A, XM_005269741.3:c.1612G>A, XM_005269741.2:c.1612G>A, XM_005269741.1:c.1612G>A, NM_001157.3:c.1312G>A, NM_001157.2:c.1312G>A, XM_006717813.3:c.1312G>A, XM_006717813.2:c.1312G>A, XM_006717813.1:c.1312G>A, NM_001278408.2:c.1312G>A, NM_001278408.1:c.1312G>A, NM_001278409.2:c.1213G>A, NM_001278409.1:c.1213G>A, NM_145869.2:c.1312G>A, NM_145869.1:c.1312G>A, NM_001278407.2:c.1312G>A, NM_001278407.1:c.1312G>A, NM_145868.2:c.1312G>A, NM_145868.1:c.1312G>A, XM_005269742.2:c.1312G>A, XM_005269742.1:c.1312G>A, XM_047425141.1:c.1312G>A, XM_047425140.1:c.1312G>A, XP_005269798.1:p.Glu538Lys, NP_001148.1:p.Glu438Lys, XP_006717876.1:p.Glu438Lys, NP_001265337.1:p.Glu438Lys, NP_001265338.1:p.Glu405Lys, NP_665876.1:p.Glu438Lys, NP_001265336.1:p.Glu438Lys, NP_665875.1:p.Glu438Lys, XP_005269799.1:p.Glu438Lys, XP_047281097.1:p.Glu438Lys, XP_047281096.1:p.Glu438Lys

Select item 14792025858.

rs1479202585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80157659 (GRCh38)
10:81917415 (GRCh37)
Canonical SPDI:: NC_000010.11:80157658:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.80157659C>T, NC_000010.10:g.81917415C>T, XM_005269741.5:c.1740G>A, XM_005269741.4:c.1740G>A, XM_005269741.3:c.1740G>A, XM_005269741.2:c.1740G>A, XM_005269741.1:c.1740G>A, NM_001157.3:c.1440G>A, NM_001157.2:c.1440G>A, XM_006717813.3:c.1440G>A, XM_006717813.2:c.1440G>A, XM_006717813.1:c.1440G>A, NM_001278408.2:c.1440G>A, NM_001278408.1:c.1440G>A, NM_001278409.2:c.1341G>A, NM_001278409.1:c.1341G>A, NM_145869.2:c.1440G>A, NM_145869.1:c.1440G>A, NM_001278407.2:c.1440G>A, NM_001278407.1:c.1440G>A, NM_145868.2:c.1440G>A, NM_145868.1:c.1440G>A, XM_005269742.2:c.1440G>A, XM_005269742.1:c.1440G>A, XM_047425141.1:c.1440G>A, XM_047425140.1:c.1440G>A

Select item 14781239279.

rs1478123927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80169125 (GRCh38)
10:81928881 (GRCh37)
Canonical SPDI:: NC_000010.11:80169124:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.80169125G>A, NC_000010.10:g.81928881G>A, XM_005269741.5:c.705C>T, XM_005269741.4:c.705C>T, XM_005269741.3:c.705C>T, XM_005269741.2:c.705C>T, XM_005269741.1:c.705C>T, NM_001157.3:c.405C>T, NM_001157.2:c.405C>T, XM_006717813.3:c.405C>T, XM_006717813.2:c.405C>T, XM_006717813.1:c.405C>T, NM_001278408.2:c.405C>T, NM_001278408.1:c.405C>T, NM_001278409.2:c.306C>T, NM_001278409.1:c.306C>T, NM_145869.2:c.405C>T, NM_145869.1:c.405C>T, NM_001278407.2:c.405C>T, NM_001278407.1:c.405C>T, NM_145868.2:c.405C>T, NM_145868.1:c.405C>T, XM_005269742.2:c.405C>T, XM_005269742.1:c.405C>T, XM_047425141.1:c.405C>T, XM_047425140.1:c.405C>T

Select item 147721230610.

rs1477212306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80163572 (GRCh38)
10:81923328 (GRCh37)
Canonical SPDI:: NC_000010.11:80163571:A:G
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_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_000010.11:g.80163572A>G, NC_000010.10:g.81923328A>G, XM_005269741.5:c.1291T>C, XM_005269741.4:c.1291T>C, XM_005269741.3:c.1291T>C, XM_005269741.2:c.1291T>C, XM_005269741.1:c.1291T>C, NM_001157.3:c.991T>C, NM_001157.2:c.991T>C, XM_006717813.3:c.991T>C, XM_006717813.2:c.991T>C, XM_006717813.1:c.991T>C, NM_001278408.2:c.991T>C, NM_001278408.1:c.991T>C, NM_001278409.2:c.892T>C, NM_001278409.1:c.892T>C, NM_145869.2:c.991T>C, NM_145869.1:c.991T>C, NM_001278407.2:c.991T>C, NM_001278407.1:c.991T>C, NM_145868.2:c.991T>C, NM_145868.1:c.991T>C, XM_005269742.2:c.991T>C, XM_005269742.1:c.991T>C, XM_047425141.1:c.991T>C, XM_047425140.1:c.991T>C, XP_005269798.1:p.Ser431Pro, NP_001148.1:p.Ser331Pro, XP_006717876.1:p.Ser331Pro, NP_001265337.1:p.Ser331Pro, NP_001265338.1:p.Ser298Pro, NP_665876.1:p.Ser331Pro, NP_001265336.1:p.Ser331Pro, NP_665875.1:p.Ser331Pro, XP_005269799.1:p.Ser331Pro, XP_047281097.1:p.Ser331Pro, XP_047281096.1:p.Ser331Pro

Select item 147465559611.

rs1474655596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:80164142 (GRCh38)
10:81923898 (GRCh37)
Canonical SPDI:: NC_000010.11:80164141:C:A,NC_000010.11:80164141:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80164142C>A, NC_000010.11:g.80164142C>T, NC_000010.10:g.81923898C>A, NC_000010.10:g.81923898C>T, XM_005269741.5:c.1160G>T, XM_005269741.5:c.1160G>A, XM_005269741.4:c.1160G>T, XM_005269741.4:c.1160G>A, XM_005269741.3:c.1160G>T, XM_005269741.3:c.1160G>A, XM_005269741.2:c.1160G>T, XM_005269741.2:c.1160G>A, XM_005269741.1:c.1160G>T, XM_005269741.1:c.1160G>A, NM_001157.3:c.860G>T, NM_001157.3:c.860G>A, NM_001157.2:c.860G>T, NM_001157.2:c.860G>A, XM_006717813.3:c.860G>T, XM_006717813.3:c.860G>A, XM_006717813.2:c.860G>T, XM_006717813.2:c.860G>A, XM_006717813.1:c.860G>T, XM_006717813.1:c.860G>A, NM_001278408.2:c.860G>T, NM_001278408.2:c.860G>A, NM_001278408.1:c.860G>T, NM_001278408.1:c.860G>A, NM_001278409.2:c.761G>T, NM_001278409.2:c.761G>A, NM_001278409.1:c.761G>T, NM_001278409.1:c.761G>A, NM_145869.2:c.860G>T, NM_145869.2:c.860G>A, NM_145869.1:c.860G>T, NM_145869.1:c.860G>A, NM_001278407.2:c.860G>T, NM_001278407.2:c.860G>A, NM_001278407.1:c.860G>T, NM_001278407.1:c.860G>A, NM_145868.2:c.860G>T, NM_145868.2:c.860G>A, NM_145868.1:c.860G>T, NM_145868.1:c.860G>A, XM_005269742.2:c.860G>T, XM_005269742.2:c.860G>A, XM_005269742.1:c.860G>T, XM_005269742.1:c.860G>A, XM_047425141.1:c.860G>T, XM_047425141.1:c.860G>A, XM_047425140.1:c.860G>T, XM_047425140.1:c.860G>A, XP_005269798.1:p.Gly387Val, XP_005269798.1:p.Gly387Glu, NP_001148.1:p.Gly287Val, NP_001148.1:p.Gly287Glu, XP_006717876.1:p.Gly287Val, XP_006717876.1:p.Gly287Glu, NP_001265337.1:p.Gly287Val, NP_001265337.1:p.Gly287Glu, NP_001265338.1:p.Gly254Val, NP_001265338.1:p.Gly254Glu, NP_665876.1:p.Gly287Val, NP_665876.1:p.Gly287Glu, NP_001265336.1:p.Gly287Val, NP_001265336.1:p.Gly287Glu, NP_665875.1:p.Gly287Val, NP_665875.1:p.Gly287Glu, XP_005269799.1:p.Gly287Val, XP_005269799.1:p.Gly287Glu, XP_047281097.1:p.Gly287Val, XP_047281097.1:p.Gly287Glu, XP_047281096.1:p.Gly287Val, XP_047281096.1:p.Gly287Glu

Select item 147462284912.

rs1474622849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80161942 (GRCh38)
10:81921698 (GRCh37)
Canonical SPDI:: NC_000010.11:80161941:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.80161942C>T, NC_000010.10:g.81921698C>T, XM_005269741.5:c.1473G>A, XM_005269741.4:c.1473G>A, XM_005269741.3:c.1473G>A, XM_005269741.2:c.1473G>A, XM_005269741.1:c.1473G>A, NM_001157.3:c.1173G>A, NM_001157.2:c.1173G>A, XM_006717813.3:c.1173G>A, XM_006717813.2:c.1173G>A, XM_006717813.1:c.1173G>A, NM_001278408.2:c.1173G>A, NM_001278408.1:c.1173G>A, NM_001278409.2:c.1074G>A, NM_001278409.1:c.1074G>A, NM_145869.2:c.1173G>A, NM_145869.1:c.1173G>A, NM_001278407.2:c.1173G>A, NM_001278407.1:c.1173G>A, NM_145868.2:c.1173G>A, NM_145868.1:c.1173G>A, XM_005269742.2:c.1173G>A, XM_005269742.1:c.1173G>A, XM_047425141.1:c.1173G>A, XM_047425140.1:c.1173G>A

Select item 147315313513.

rs1473153135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80157724 (GRCh38)
10:81917480 (GRCh37)
Canonical SPDI:: NC_000010.11:80157723:C:T
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80157724C>T, NC_000010.10:g.81917480C>T, XM_005269741.5:c.1675G>A, XM_005269741.4:c.1675G>A, XM_005269741.3:c.1675G>A, XM_005269741.2:c.1675G>A, XM_005269741.1:c.1675G>A, NM_001157.3:c.1375G>A, NM_001157.2:c.1375G>A, XM_006717813.3:c.1375G>A, XM_006717813.2:c.1375G>A, XM_006717813.1:c.1375G>A, NM_001278408.2:c.1375G>A, NM_001278408.1:c.1375G>A, NM_001278409.2:c.1276G>A, NM_001278409.1:c.1276G>A, NM_145869.2:c.1375G>A, NM_145869.1:c.1375G>A, NM_001278407.2:c.1375G>A, NM_001278407.1:c.1375G>A, NM_145868.2:c.1375G>A, NM_145868.1:c.1375G>A, XM_005269742.2:c.1375G>A, XM_005269742.1:c.1375G>A, XM_047425141.1:c.1375G>A, XM_047425140.1:c.1375G>A, XP_005269798.1:p.Val559Met, NP_001148.1:p.Val459Met, XP_006717876.1:p.Val459Met, NP_001265337.1:p.Val459Met, NP_001265338.1:p.Val426Met, NP_665876.1:p.Val459Met, NP_001265336.1:p.Val459Met, NP_665875.1:p.Val459Met, XP_005269799.1:p.Val459Met, XP_047281097.1:p.Val459Met, XP_047281096.1:p.Val459Met

Select item 147062036514.

rs1470620365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80168988 (GRCh38)
10:81928744 (GRCh37)
Canonical SPDI:: NC_000010.11:80168987:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000010.11:g.80168988G>A, NC_000010.10:g.81928744G>A, XM_005269741.5:c.842C>T, XM_005269741.4:c.842C>T, XM_005269741.3:c.842C>T, XM_005269741.2:c.842C>T, XM_005269741.1:c.842C>T, NM_001157.3:c.542C>T, NM_001157.2:c.542C>T, XM_006717813.3:c.542C>T, XM_006717813.2:c.542C>T, XM_006717813.1:c.542C>T, NM_001278408.2:c.542C>T, NM_001278408.1:c.542C>T, NM_001278409.2:c.443C>T, NM_001278409.1:c.443C>T, NM_145869.2:c.542C>T, NM_145869.1:c.542C>T, NM_001278407.2:c.542C>T, NM_001278407.1:c.542C>T, NM_145868.2:c.542C>T, NM_145868.1:c.542C>T, XM_005269742.2:c.542C>T, XM_005269742.1:c.542C>T, XM_047425141.1:c.542C>T, XM_047425140.1:c.542C>T, XP_005269798.1:p.Pro281Leu, NP_001148.1:p.Pro181Leu, XP_006717876.1:p.Pro181Leu, NP_001265337.1:p.Pro181Leu, NP_001265338.1:p.Pro148Leu, NP_665876.1:p.Pro181Leu, NP_001265336.1:p.Pro181Leu, NP_665875.1:p.Pro181Leu, XP_005269799.1:p.Pro181Leu, XP_047281097.1:p.Pro181Leu, XP_047281096.1:p.Pro181Leu

Select item 146850667815.

rs1468506678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:80170910 (GRCh38)
10:81930666 (GRCh37)
Canonical SPDI:: NC_000010.11:80170909:C:G
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000010.11:g.80170910C>G, NC_000010.10:g.81930666C>G, XM_005269741.5:c.361G>C, XM_005269741.4:c.361G>C, XM_005269741.3:c.361G>C, XM_005269741.2:c.361G>C, XM_005269741.1:c.361G>C, NM_001157.3:c.61G>C, NM_001157.2:c.61G>C, XM_006717813.3:c.61G>C, XM_006717813.2:c.61G>C, XM_006717813.1:c.61G>C, NM_001278408.2:c.61G>C, NM_001278408.1:c.61G>C, NM_001278409.2:c.-39G>C, NM_001278409.1:c.-39G>C, NM_145869.2:c.61G>C, NM_145869.1:c.61G>C, NM_001278407.2:c.61G>C, NM_001278407.1:c.61G>C, NM_145868.2:c.61G>C, NM_145868.1:c.61G>C, XM_005269742.2:c.61G>C, XM_005269742.1:c.61G>C, XM_047425141.1:c.61G>C, XM_047425140.1:c.61G>C, XP_005269798.1:p.Gly121Arg, NP_001148.1:p.Gly21Arg, XP_006717876.1:p.Gly21Arg, NP_001265337.1:p.Gly21Arg, NP_665876.1:p.Gly21Arg, NP_001265336.1:p.Gly21Arg, NP_665875.1:p.Gly21Arg, XP_005269799.1:p.Gly21Arg, XP_047281097.1:p.Gly21Arg, XP_047281096.1:p.Gly21Arg

Select item 146574416316.

rs1465744163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80169052 (GRCh38)
10:81928808 (GRCh37)
Canonical SPDI:: NC_000010.11:80169051:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.80169052G>A, NC_000010.10:g.81928808G>A, XM_005269741.5:c.778C>T, XM_005269741.4:c.778C>T, XM_005269741.3:c.778C>T, XM_005269741.2:c.778C>T, XM_005269741.1:c.778C>T, NM_001157.3:c.478C>T, NM_001157.2:c.478C>T, XM_006717813.3:c.478C>T, XM_006717813.2:c.478C>T, XM_006717813.1:c.478C>T, NM_001278408.2:c.478C>T, NM_001278408.1:c.478C>T, NM_001278409.2:c.379C>T, NM_001278409.1:c.379C>T, NM_145869.2:c.478C>T, NM_145869.1:c.478C>T, NM_001278407.2:c.478C>T, NM_001278407.1:c.478C>T, NM_145868.2:c.478C>T, NM_145868.1:c.478C>T, XM_005269742.2:c.478C>T, XM_005269742.1:c.478C>T, XM_047425141.1:c.478C>T, XM_047425140.1:c.478C>T, XP_005269798.1:p.Leu260Phe, NP_001148.1:p.Leu160Phe, XP_006717876.1:p.Leu160Phe, NP_001265337.1:p.Leu160Phe, NP_001265338.1:p.Leu127Phe, NP_665876.1:p.Leu160Phe, NP_001265336.1:p.Leu160Phe, NP_665875.1:p.Leu160Phe, XP_005269799.1:p.Leu160Phe, XP_047281097.1:p.Leu160Phe, XP_047281096.1:p.Leu160Phe

Select item 146547174717.

rs1465471747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80163369 (GRCh38)
10:81923125 (GRCh37)
Canonical SPDI:: NC_000010.11:80163368:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.80163369G>A, NC_000010.10:g.81923125G>A, XM_005269741.5:c.1366C>T, XM_005269741.4:c.1366C>T, XM_005269741.3:c.1366C>T, XM_005269741.2:c.1366C>T, XM_005269741.1:c.1366C>T, NM_001157.3:c.1066C>T, NM_001157.2:c.1066C>T, XM_006717813.3:c.1066C>T, XM_006717813.2:c.1066C>T, XM_006717813.1:c.1066C>T, NM_001278408.2:c.1066C>T, NM_001278408.1:c.1066C>T, NM_001278409.2:c.967C>T, NM_001278409.1:c.967C>T, NM_145869.2:c.1066C>T, NM_145869.1:c.1066C>T, NM_001278407.2:c.1066C>T, NM_001278407.1:c.1066C>T, NM_145868.2:c.1066C>T, NM_145868.1:c.1066C>T, XM_005269742.2:c.1066C>T, XM_005269742.1:c.1066C>T, XM_047425141.1:c.1066C>T, XM_047425140.1:c.1066C>T, XP_005269798.1:p.Leu456Phe, NP_001148.1:p.Leu356Phe, XP_006717876.1:p.Leu356Phe, NP_001265337.1:p.Leu356Phe, NP_001265338.1:p.Leu323Phe, NP_665876.1:p.Leu356Phe, NP_001265336.1:p.Leu356Phe, NP_665875.1:p.Leu356Phe, XP_005269799.1:p.Leu356Phe, XP_047281097.1:p.Leu356Phe, XP_047281096.1:p.Leu356Phe

Select item 146331727018.

rs1463317270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:80166973 (GRCh38)
10:81926729 (GRCh37)
Canonical SPDI:: NC_000010.11:80166972:G:C
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80166973G>C, NC_000010.10:g.81926729G>C, XM_005269741.5:c.961C>G, XM_005269741.4:c.961C>G, XM_005269741.3:c.961C>G, XM_005269741.2:c.961C>G, XM_005269741.1:c.961C>G, NM_001157.3:c.661C>G, NM_001157.2:c.661C>G, XM_006717813.3:c.661C>G, XM_006717813.2:c.661C>G, XM_006717813.1:c.661C>G, NM_001278408.2:c.661C>G, NM_001278408.1:c.661C>G, NM_001278409.2:c.562C>G, NM_001278409.1:c.562C>G, NM_145869.2:c.661C>G, NM_145869.1:c.661C>G, NM_001278407.2:c.661C>G, NM_001278407.1:c.661C>G, NM_145868.2:c.661C>G, NM_145868.1:c.661C>G, XM_005269742.2:c.661C>G, XM_005269742.1:c.661C>G, XM_047425141.1:c.661C>G, XM_047425140.1:c.661C>G, XP_005269798.1:p.Gln321Glu, NP_001148.1:p.Gln221Glu, XP_006717876.1:p.Gln221Glu, NP_001265337.1:p.Gln221Glu, NP_001265338.1:p.Gln188Glu, NP_665876.1:p.Gln221Glu, NP_001265336.1:p.Gln221Glu, NP_665875.1:p.Gln221Glu, XP_005269799.1:p.Gln221Glu, XP_047281097.1:p.Gln221Glu, XP_047281096.1:p.Gln221Glu

Select item 146317735019.

rs1463177350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:80157644 (GRCh38)
10:81917400 (GRCh37)
Canonical SPDI:: NC_000010.11:80157643:G:C
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80157644G>C, NC_000010.10:g.81917400G>C, XM_005269741.5:c.1755C>G, XM_005269741.4:c.1755C>G, XM_005269741.3:c.1755C>G, XM_005269741.2:c.1755C>G, XM_005269741.1:c.1755C>G, NM_001157.3:c.1455C>G, NM_001157.2:c.1455C>G, XM_006717813.3:c.1455C>G, XM_006717813.2:c.1455C>G, XM_006717813.1:c.1455C>G, NM_001278408.2:c.1455C>G, NM_001278408.1:c.1455C>G, NM_001278409.2:c.1356C>G, NM_001278409.1:c.1356C>G, NM_145869.2:c.1455C>G, NM_145869.1:c.1455C>G, NM_001278407.2:c.1455C>G, NM_001278407.1:c.1455C>G, NM_145868.2:c.1455C>G, NM_145868.1:c.1455C>G, XM_005269742.2:c.1455C>G, XM_005269742.1:c.1455C>G, XM_047425141.1:c.1455C>G, XM_047425140.1:c.1455C>G, XP_005269798.1:p.Ile585Met, NP_001148.1:p.Ile485Met, XP_006717876.1:p.Ile485Met, NP_001265337.1:p.Ile485Met, NP_001265338.1:p.Ile452Met, NP_665876.1:p.Ile485Met, NP_001265336.1:p.Ile485Met, NP_665875.1:p.Ile485Met, XP_005269799.1:p.Ile485Met, XP_047281097.1:p.Ile485Met, XP_047281096.1:p.Ile485Met

Select item 146301097820.

rs1463010978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80172822 (GRCh38)
10:81932578 (GRCh37)
Canonical SPDI:: NC_000010.11:80172821:G:A
Gene:: ANXA11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000010.11:g.80172822G>A, NC_000010.10:g.81932578G>A, XM_005269741.5:c.-1552C>T, NM_001157.3:c.40C>T, NM_001157.2:c.40C>T, XM_006717813.3:c.40C>T, XM_006717813.2:c.40C>T, XM_006717813.1:c.40C>T, NM_001278408.2:c.40C>T, NM_001278408.1:c.40C>T, NM_001278409.2:c.-329C>T, NM_001278409.1:c.-329C>T, NM_145869.2:c.40C>T, NM_145869.1:c.40C>T, NM_001278407.2:c.40C>T, NM_001278407.1:c.40C>T, NM_145868.2:c.40C>T, NM_145868.1:c.40C>T, XM_005269742.2:c.40C>T, XM_005269742.1:c.40C>T, XM_047425141.1:c.40C>T, XM_047425140.1:c.40C>T, NP_001148.1:p.Pro14Ser, XP_006717876.1:p.Pro14Ser, NP_001265337.1:p.Pro14Ser, NP_665876.1:p.Pro14Ser, NP_001265336.1:p.Pro14Ser, NP_665875.1:p.Pro14Ser, XP_005269799.1:p.Pro14Ser, XP_047281097.1:p.Pro14Ser, XP_047281096.1:p.Pro14Ser

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