SNP Links for Protein (Select 269847104) - SNP

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Links from Protein

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Select item 14879510561.

rs1487951056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:124488457 (GRCh38)
10:126177026 (GRCh37)
Canonical SPDI:: NC_000010.11:124488456:A:C,NC_000010.11:124488456:A:G
Gene:: LHPP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_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_000010.11:g.124488457A>C, NC_000010.11:g.124488457A>G, NC_000010.10:g.126177026A>C, NC_000010.10:g.126177026A>G, XM_011540058.4:c.349A>C, XM_011540058.4:c.349A>G, XM_011540058.3:c.349A>C, XM_011540058.3:c.349A>G, XM_011540058.2:c.349A>C, XM_011540058.2:c.349A>G, XM_011540058.1:c.349A>C, XM_011540058.1:c.349A>G, XM_005270026.4:c.349A>C, XM_005270026.4:c.349A>G, XM_005270026.3:c.349A>C, XM_005270026.3:c.349A>G, XM_005270026.2:c.349A>C, XM_005270026.2:c.349A>G, XM_005270026.1:c.349A>C, XM_005270026.1:c.349A>G, NM_022126.4:c.349A>C, NM_022126.4:c.349A>G, NM_022126.3:c.349A>C, NM_022126.3:c.349A>G, XR_001747177.3:n.389A>C, XR_001747177.3:n.389A>G, XR_001747177.2:n.389A>C, XR_001747177.2:n.389A>G, XR_001747177.1:n.389A>C, XR_001747177.1:n.389A>G, XM_017016509.2:c.349A>C, XM_017016509.2:c.349A>G, XM_017016509.1:c.349A>C, XM_017016509.1:c.349A>G, NM_001167880.2:c.349A>C, NM_001167880.2:c.349A>G, NM_001167880.1:c.349A>C, NM_001167880.1:c.349A>G, NM_001318331.2:c.349A>C, NM_001318331.2:c.349A>G, NM_001318331.1:c.349A>C, NM_001318331.1:c.349A>G, NM_001318332.2:c.349A>C, NM_001318332.2:c.349A>G, NM_001318332.1:c.349A>C, NM_001318332.1:c.349A>G, XM_024448122.1:c.349A>C, XM_024448122.1:c.349A>G, XP_011538360.1:p.Asn117His, XP_011538360.1:p.Asn117Asp, XP_005270083.1:p.Asn117His, XP_005270083.1:p.Asn117Asp, NP_071409.3:p.Asn117His, NP_071409.3:p.Asn117Asp, XP_016871998.1:p.Asn117His, XP_016871998.1:p.Asn117Asp, NP_001161352.1:p.Asn117His, NP_001161352.1:p.Asn117Asp, NP_001305260.1:p.Asn117His, NP_001305260.1:p.Asn117Asp, NP_001305261.1:p.Asn117His, NP_001305261.1:p.Asn117Asp, XP_024303890.1:p.Asn117His, XP_024303890.1:p.Asn117Asp

Select item 14875509482.

rs1487550948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:124461930 (GRCh38)
10:126150499 (GRCh37)
Canonical SPDI:: NC_000010.11:124461929:A:G
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.124461930A>G, NC_000010.10:g.126150499A>G, XM_011540058.4:c.68A>G, XM_011540058.3:c.68A>G, XM_011540058.2:c.68A>G, XM_011540058.1:c.68A>G, XM_005270026.4:c.68A>G, XM_005270026.3:c.68A>G, XM_005270026.2:c.68A>G, XM_005270026.1:c.68A>G, NM_022126.4:c.68A>G, NM_022126.3:c.68A>G, XR_001747177.3:n.108A>G, XR_001747177.2:n.108A>G, XR_001747177.1:n.108A>G, XM_017016509.2:c.68A>G, XM_017016509.1:c.68A>G, NM_001167880.2:c.68A>G, NM_001167880.1:c.68A>G, NM_001318331.2:c.68A>G, NM_001318331.1:c.68A>G, NM_001318332.2:c.68A>G, NM_001318332.1:c.68A>G, XM_024448122.1:c.68A>G, XP_011538360.1:p.Tyr23Cys, XP_005270083.1:p.Tyr23Cys, NP_071409.3:p.Tyr23Cys, XP_016871998.1:p.Tyr23Cys, NP_001161352.1:p.Tyr23Cys, NP_001305260.1:p.Tyr23Cys, NP_001305261.1:p.Tyr23Cys, XP_024303890.1:p.Tyr23Cys

Select item 14868396973.

rs1486839697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124484215 (GRCh38)
10:126172784 (GRCh37)
Canonical SPDI:: NC_000010.11:124484214:C:T
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.124484215C>T, NC_000010.10:g.126172784C>T, XM_011540058.4:c.202C>T, XM_011540058.3:c.202C>T, XM_011540058.2:c.202C>T, XM_011540058.1:c.202C>T, XM_005270026.4:c.202C>T, XM_005270026.3:c.202C>T, XM_005270026.2:c.202C>T, XM_005270026.1:c.202C>T, NM_022126.4:c.202C>T, NM_022126.3:c.202C>T, XR_001747177.3:n.242C>T, XR_001747177.2:n.242C>T, XR_001747177.1:n.242C>T, XM_017016509.2:c.202C>T, XM_017016509.1:c.202C>T, NM_001167880.2:c.202C>T, NM_001167880.1:c.202C>T, NM_001318331.2:c.202C>T, NM_001318331.1:c.202C>T, NM_001318332.2:c.202C>T, NM_001318332.1:c.202C>T, XM_024448122.1:c.202C>T, XP_011538360.1:p.Leu68Phe, XP_005270083.1:p.Leu68Phe, NP_071409.3:p.Leu68Phe, XP_016871998.1:p.Leu68Phe, NP_001161352.1:p.Leu68Phe, NP_001305260.1:p.Leu68Phe, NP_001305261.1:p.Leu68Phe, XP_024303890.1:p.Leu68Phe

Select item 14860962904.

rs1486096290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:124484208 (GRCh38)
10:126172777 (GRCh37)
Canonical SPDI:: NC_000010.11:124484207:G:A
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.124484208G>A, NC_000010.10:g.126172777G>A, XM_011540058.4:c.195G>A, XM_011540058.3:c.195G>A, XM_011540058.2:c.195G>A, XM_011540058.1:c.195G>A, XM_005270026.4:c.195G>A, XM_005270026.3:c.195G>A, XM_005270026.2:c.195G>A, XM_005270026.1:c.195G>A, NM_022126.4:c.195G>A, NM_022126.3:c.195G>A, XR_001747177.3:n.235G>A, XR_001747177.2:n.235G>A, XR_001747177.1:n.235G>A, XM_017016509.2:c.195G>A, XM_017016509.1:c.195G>A, NM_001167880.2:c.195G>A, NM_001167880.1:c.195G>A, NM_001318331.2:c.195G>A, NM_001318331.1:c.195G>A, NM_001318332.2:c.195G>A, NM_001318332.1:c.195G>A, XM_024448122.1:c.195G>A

Select item 14775280145.

rs1477528014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124498097 (GRCh38)
10:126186666 (GRCh37)
Canonical SPDI:: NC_000010.11:124498096:C:T
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.124498097C>T, NC_000010.10:g.126186666C>T, XM_011540058.4:c.593C>T, XM_011540058.3:c.593C>T, XM_011540058.2:c.593C>T, XM_011540058.1:c.593C>T, XM_005270026.4:c.593C>T, XM_005270026.3:c.593C>T, XM_005270026.2:c.593C>T, XM_005270026.1:c.593C>T, NM_022126.4:c.593C>T, NM_022126.3:c.593C>T, XR_001747177.3:n.633C>T, XR_001747177.2:n.633C>T, XR_001747177.1:n.633C>T, XM_017016509.2:c.593C>T, XM_017016509.1:c.593C>T, NM_001167880.2:c.593C>T, NM_001167880.1:c.593C>T, NM_001318332.2:c.593C>T, NM_001318332.1:c.593C>T, XM_024448122.1:c.593C>T, XP_011538360.1:p.Ala198Val, XP_005270083.1:p.Ala198Val, NP_071409.3:p.Ala198Val, XP_016871998.1:p.Ala198Val, NP_001161352.1:p.Ala198Val, NP_001305261.1:p.Ala198Val, XP_024303890.1:p.Ala198Val

Select item 14774848936.

rs1477484893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:124484203 (GRCh38)
10:126172772 (GRCh37)
Canonical SPDI:: NC_000010.11:124484202:C:A
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.124484203C>A, NC_000010.10:g.126172772C>A, XM_011540058.4:c.190C>A, XM_011540058.3:c.190C>A, XM_011540058.2:c.190C>A, XM_011540058.1:c.190C>A, XM_005270026.4:c.190C>A, XM_005270026.3:c.190C>A, XM_005270026.2:c.190C>A, XM_005270026.1:c.190C>A, NM_022126.4:c.190C>A, NM_022126.3:c.190C>A, XR_001747177.3:n.230C>A, XR_001747177.2:n.230C>A, XR_001747177.1:n.230C>A, XM_017016509.2:c.190C>A, XM_017016509.1:c.190C>A, NM_001167880.2:c.190C>A, NM_001167880.1:c.190C>A, NM_001318331.2:c.190C>A, NM_001318331.1:c.190C>A, NM_001318332.2:c.190C>A, NM_001318332.1:c.190C>A, XM_024448122.1:c.190C>A, XP_011538360.1:p.Leu64Met, XP_005270083.1:p.Leu64Met, NP_071409.3:p.Leu64Met, XP_016871998.1:p.Leu64Met, NP_001161352.1:p.Leu64Met, NP_001305260.1:p.Leu64Met, NP_001305261.1:p.Leu64Met, XP_024303890.1:p.Leu64Met

Select item 14766732707.

rs1476673270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:124496997 (GRCh38)
10:126185566 (GRCh37)
Canonical SPDI:: NC_000010.11:124496996:C:A,NC_000010.11:124496996:C:T
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.124496997C>A, NC_000010.11:g.124496997C>T, NC_000010.10:g.126185566C>A, NC_000010.10:g.126185566C>T, XM_011540058.4:c.504C>A, XM_011540058.4:c.504C>T, XM_011540058.3:c.504C>A, XM_011540058.3:c.504C>T, XM_011540058.2:c.504C>A, XM_011540058.2:c.504C>T, XM_011540058.1:c.504C>A, XM_011540058.1:c.504C>T, XM_005270026.4:c.504C>A, XM_005270026.4:c.504C>T, XM_005270026.3:c.504C>A, XM_005270026.3:c.504C>T, XM_005270026.2:c.504C>A, XM_005270026.2:c.504C>T, XM_005270026.1:c.504C>A, XM_005270026.1:c.504C>T, NM_022126.4:c.504C>A, NM_022126.4:c.504C>T, NM_022126.3:c.504C>A, NM_022126.3:c.504C>T, XR_001747177.3:n.544C>A, XR_001747177.3:n.544C>T, XR_001747177.2:n.544C>A, XR_001747177.2:n.544C>T, XR_001747177.1:n.544C>A, XR_001747177.1:n.544C>T, XM_017016509.2:c.504C>A, XM_017016509.2:c.504C>T, XM_017016509.1:c.504C>A, XM_017016509.1:c.504C>T, NM_001167880.2:c.504C>A, NM_001167880.2:c.504C>T, NM_001167880.1:c.504C>A, NM_001167880.1:c.504C>T, NM_001318332.2:c.504C>A, NM_001318332.2:c.504C>T, NM_001318332.1:c.504C>A, NM_001318332.1:c.504C>T, XM_024448122.1:c.504C>A, XM_024448122.1:c.504C>T, XP_011538360.1:p.Asp168Glu, XP_005270083.1:p.Asp168Glu, NP_071409.3:p.Asp168Glu, XP_016871998.1:p.Asp168Glu, NP_001161352.1:p.Asp168Glu, NP_001305261.1:p.Asp168Glu, XP_024303890.1:p.Asp168Glu

Select item 14759129278.

rs1475912927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124496979 (GRCh38)
10:126185548 (GRCh37)
Canonical SPDI:: NC_000010.11:124496978:C:T
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.124496979C>T, NC_000010.10:g.126185548C>T, XM_011540058.4:c.486C>T, XM_011540058.3:c.486C>T, XM_011540058.2:c.486C>T, XM_011540058.1:c.486C>T, XM_005270026.4:c.486C>T, XM_005270026.3:c.486C>T, XM_005270026.2:c.486C>T, XM_005270026.1:c.486C>T, NM_022126.4:c.486C>T, NM_022126.3:c.486C>T, XR_001747177.3:n.526C>T, XR_001747177.2:n.526C>T, XR_001747177.1:n.526C>T, XM_017016509.2:c.486C>T, XM_017016509.1:c.486C>T, NM_001167880.2:c.486C>T, NM_001167880.1:c.486C>T, NM_001318332.2:c.486C>T, NM_001318332.1:c.486C>T, XM_024448122.1:c.486C>T

Select item 14756844889.

rs1475684488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124484274 (GRCh38)
10:126172843 (GRCh37)
Canonical SPDI:: NC_000010.11:124484273:C:T
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.124484274C>T, NC_000010.10:g.126172843C>T, XM_011540058.4:c.261C>T, XM_011540058.3:c.261C>T, XM_011540058.2:c.261C>T, XM_011540058.1:c.261C>T, XM_005270026.4:c.261C>T, XM_005270026.3:c.261C>T, XM_005270026.2:c.261C>T, XM_005270026.1:c.261C>T, NM_022126.4:c.261C>T, NM_022126.3:c.261C>T, XR_001747177.3:n.301C>T, XR_001747177.2:n.301C>T, XR_001747177.1:n.301C>T, XM_017016509.2:c.261C>T, XM_017016509.1:c.261C>T, NM_001167880.2:c.261C>T, NM_001167880.1:c.261C>T, NM_001318331.2:c.261C>T, NM_001318331.1:c.261C>T, NM_001318332.2:c.261C>T, NM_001318332.1:c.261C>T, XM_024448122.1:c.261C>T

Select item 147512120110.

rs1475121201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:124488502 (GRCh38)
10:126177071 (GRCh37)
Canonical SPDI:: NC_000010.11:124488501:T:C
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.124488502T>C, NC_000010.10:g.126177071T>C, XM_011540058.4:c.394T>C, XM_011540058.3:c.394T>C, XM_011540058.2:c.394T>C, XM_011540058.1:c.394T>C, XM_005270026.4:c.394T>C, XM_005270026.3:c.394T>C, XM_005270026.2:c.394T>C, XM_005270026.1:c.394T>C, NM_022126.4:c.394T>C, NM_022126.3:c.394T>C, XR_001747177.3:n.434T>C, XR_001747177.2:n.434T>C, XR_001747177.1:n.434T>C, XM_017016509.2:c.394T>C, XM_017016509.1:c.394T>C, NM_001167880.2:c.394T>C, NM_001167880.1:c.394T>C, NM_001318331.2:c.394T>C, NM_001318331.1:c.394T>C, NM_001318332.2:c.394T>C, NM_001318332.1:c.394T>C, XM_024448122.1:c.394T>C, XP_011538360.1:p.Tyr132His, XP_005270083.1:p.Tyr132His, NP_071409.3:p.Tyr132His, XP_016871998.1:p.Tyr132His, NP_001161352.1:p.Tyr132His, NP_001305260.1:p.Tyr132His, NP_001305261.1:p.Tyr132His, XP_024303890.1:p.Tyr132His

Select item 146905573711.

rs1469055737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:124488520 (GRCh38)
10:126177089 (GRCh37)
Canonical SPDI:: NC_000010.11:124488519:G:A
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/5 (GnomAD_exomes)
A=0.000033/4 (ExAC)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.124488520G>A, NC_000010.10:g.126177089G>A, XM_011540058.4:c.412G>A, XM_011540058.3:c.412G>A, XM_011540058.2:c.412G>A, XM_011540058.1:c.412G>A, XM_005270026.4:c.412G>A, XM_005270026.3:c.412G>A, XM_005270026.2:c.412G>A, XM_005270026.1:c.412G>A, NM_022126.4:c.412G>A, NM_022126.3:c.412G>A, XR_001747177.3:n.452G>A, XR_001747177.2:n.452G>A, XR_001747177.1:n.452G>A, XM_017016509.2:c.412G>A, XM_017016509.1:c.412G>A, NM_001167880.2:c.412G>A, NM_001167880.1:c.412G>A, NM_001318331.2:c.412G>A, NM_001318331.1:c.412G>A, NM_001318332.2:c.412G>A, NM_001318332.1:c.412G>A, XM_024448122.1:c.412G>A, XP_011538360.1:p.Ala138Thr, XP_005270083.1:p.Ala138Thr, NP_071409.3:p.Ala138Thr, XP_016871998.1:p.Ala138Thr, NP_001161352.1:p.Ala138Thr, NP_001305260.1:p.Ala138Thr, NP_001305261.1:p.Ala138Thr, XP_024303890.1:p.Ala138Thr

Select item 146643640812.

rs1466436408 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 10:124484176 (GRCh38)
10:126172745 (GRCh37)
Canonical SPDI:: NC_000010.11:124484174:CAAC:C
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.124484176_124484178del, NC_000010.10:g.126172745_126172747del, XM_011540058.4:c.163_165del, XM_011540058.3:c.163_165del, XM_011540058.2:c.163_165del, XM_011540058.1:c.163_165del, XM_005270026.4:c.163_165del, XM_005270026.3:c.163_165del, XM_005270026.2:c.163_165del, XM_005270026.1:c.163_165del, NM_022126.4:c.163_165del, NM_022126.3:c.163_165del, XR_001747177.3:n.203_205del, XR_001747177.2:n.203_205del, XR_001747177.1:n.203_205del, XM_017016509.2:c.163_165del, XM_017016509.1:c.163_165del, NM_001167880.2:c.163_165del, NM_001167880.1:c.163_165del, NM_001318331.2:c.163_165del, NM_001318331.1:c.163_165del, NM_001318332.2:c.163_165del, NM_001318332.1:c.163_165del, XM_024448122.1:c.163_165del, XP_011538360.1:p.Asn55del, XP_005270083.1:p.Asn55del, NP_071409.3:p.Asn55del, XP_016871998.1:p.Asn55del, NP_001161352.1:p.Asn55del, NP_001305260.1:p.Asn55del, NP_001305261.1:p.Asn55del, XP_024303890.1:p.Asn55del

Select item 146122329413.

rs1461223294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:124461937 (GRCh38)
10:126150506 (GRCh37)
Canonical SPDI:: NC_000010.11:124461936:C:G
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.124461937C>G, NC_000010.10:g.126150506C>G, XM_011540058.4:c.75C>G, XM_011540058.3:c.75C>G, XM_011540058.2:c.75C>G, XM_011540058.1:c.75C>G, XM_005270026.4:c.75C>G, XM_005270026.3:c.75C>G, XM_005270026.2:c.75C>G, XM_005270026.1:c.75C>G, NM_022126.4:c.75C>G, NM_022126.3:c.75C>G, XR_001747177.3:n.115C>G, XR_001747177.2:n.115C>G, XR_001747177.1:n.115C>G, XM_017016509.2:c.75C>G, XM_017016509.1:c.75C>G, NM_001167880.2:c.75C>G, NM_001167880.1:c.75C>G, NM_001318331.2:c.75C>G, NM_001318331.1:c.75C>G, NM_001318332.2:c.75C>G, NM_001318332.1:c.75C>G, XM_024448122.1:c.75C>G, XP_011538360.1:p.Ser25Arg, XP_005270083.1:p.Ser25Arg, NP_071409.3:p.Ser25Arg, XP_016871998.1:p.Ser25Arg, NP_001161352.1:p.Ser25Arg, NP_001305260.1:p.Ser25Arg, NP_001305261.1:p.Ser25Arg, XP_024303890.1:p.Ser25Arg

Select item 145752508914.

rs1457525089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124461940 (GRCh38)
10:126150509 (GRCh37)
Canonical SPDI:: NC_000010.11:124461939:C:T
Gene:: LHPP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.124461940C>T, NC_000010.10:g.126150509C>T, XM_011540058.4:c.78C>T, XM_011540058.3:c.78C>T, XM_011540058.2:c.78C>T, XM_011540058.1:c.78C>T, XM_005270026.4:c.78C>T, XM_005270026.3:c.78C>T, XM_005270026.2:c.78C>T, XM_005270026.1:c.78C>T, NM_022126.4:c.78C>T, NM_022126.3:c.78C>T, XR_001747177.3:n.118C>T, XR_001747177.2:n.118C>T, XR_001747177.1:n.118C>T, XM_017016509.2:c.78C>T, XM_017016509.1:c.78C>T, NM_001167880.2:c.78C>T, NM_001167880.1:c.78C>T, NM_001318331.2:c.78C>T, NM_001318331.1:c.78C>T, NM_001318332.2:c.78C>T, NM_001318332.1:c.78C>T, XM_024448122.1:c.78C>T

Select item 145388302415.

rs1453883024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:124488572 (GRCh38)
10:126177141 (GRCh37)
Canonical SPDI:: NC_000010.11:124488571:A:G
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.124488572A>G, NC_000010.10:g.126177141A>G, XM_011540058.4:c.464A>G, XM_011540058.3:c.464A>G, XM_011540058.2:c.464A>G, XM_011540058.1:c.464A>G, XM_005270026.4:c.464A>G, XM_005270026.3:c.464A>G, XM_005270026.2:c.464A>G, XM_005270026.1:c.464A>G, NM_022126.4:c.464A>G, NM_022126.3:c.464A>G, XR_001747177.3:n.504A>G, XR_001747177.2:n.504A>G, XR_001747177.1:n.504A>G, XM_017016509.2:c.464A>G, XM_017016509.1:c.464A>G, NM_001167880.2:c.464A>G, NM_001167880.1:c.464A>G, NM_001318331.2:c.464A>G, NM_001318331.1:c.464A>G, NM_001318332.2:c.464A>G, NM_001318332.1:c.464A>G, XM_024448122.1:c.464A>G, XP_011538360.1:p.Lys155Arg, XP_005270083.1:p.Lys155Arg, NP_071409.3:p.Lys155Arg, XP_016871998.1:p.Lys155Arg, NP_001161352.1:p.Lys155Arg, NP_001305260.1:p.Lys155Arg, NP_001305261.1:p.Lys155Arg, XP_024303890.1:p.Lys155Arg

Select item 145174820216.

rs1451748202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:124461979 (GRCh38)
10:126150548 (GRCh37)
Canonical SPDI:: NC_000010.11:124461978:G:A
Gene:: LHPP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/2 (1000Genomes)
HGVS:: NC_000010.11:g.124461979G>A, NC_000010.10:g.126150548G>A, XM_011540058.4:c.117G>A, XM_011540058.3:c.117G>A, XM_011540058.2:c.117G>A, XM_011540058.1:c.117G>A, XM_005270026.4:c.117G>A, XM_005270026.3:c.117G>A, XM_005270026.2:c.117G>A, XM_005270026.1:c.117G>A, NM_022126.4:c.117G>A, NM_022126.3:c.117G>A, XR_001747177.3:n.157G>A, XR_001747177.2:n.157G>A, XR_001747177.1:n.157G>A, XM_017016509.2:c.117G>A, XM_017016509.1:c.117G>A, NM_001167880.2:c.117G>A, NM_001167880.1:c.117G>A, NM_001318331.2:c.117G>A, NM_001318331.1:c.117G>A, NM_001318332.2:c.117G>A, NM_001318332.1:c.117G>A, XM_024448122.1:c.117G>A

Select item 145054654517.

rs1450546545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124484267 (GRCh38)
10:126172836 (GRCh37)
Canonical SPDI:: NC_000010.11:124484266:C:T
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.124484267C>T, NC_000010.10:g.126172836C>T, XM_011540058.4:c.254C>T, XM_011540058.3:c.254C>T, XM_011540058.2:c.254C>T, XM_011540058.1:c.254C>T, XM_005270026.4:c.254C>T, XM_005270026.3:c.254C>T, XM_005270026.2:c.254C>T, XM_005270026.1:c.254C>T, NM_022126.4:c.254C>T, NM_022126.3:c.254C>T, XR_001747177.3:n.294C>T, XR_001747177.2:n.294C>T, XR_001747177.1:n.294C>T, XM_017016509.2:c.254C>T, XM_017016509.1:c.254C>T, NM_001167880.2:c.254C>T, NM_001167880.1:c.254C>T, NM_001318331.2:c.254C>T, NM_001318331.1:c.254C>T, NM_001318332.2:c.254C>T, NM_001318332.1:c.254C>T, XM_024448122.1:c.254C>T, XP_011538360.1:p.Pro85Leu, XP_005270083.1:p.Pro85Leu, NP_071409.3:p.Pro85Leu, XP_016871998.1:p.Pro85Leu, NP_001161352.1:p.Pro85Leu, NP_001305260.1:p.Pro85Leu, NP_001305261.1:p.Pro85Leu, XP_024303890.1:p.Pro85Leu

Select item 144889722218.

rs1448897222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:124488475 (GRCh38)
10:126177044 (GRCh37)
Canonical SPDI:: NC_000010.11:124488474:A:G
Gene:: LHPP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.124488475A>G, NC_000010.10:g.126177044A>G, XM_011540058.4:c.367A>G, XM_011540058.3:c.367A>G, XM_011540058.2:c.367A>G, XM_011540058.1:c.367A>G, XM_005270026.4:c.367A>G, XM_005270026.3:c.367A>G, XM_005270026.2:c.367A>G, XM_005270026.1:c.367A>G, NM_022126.4:c.367A>G, NM_022126.3:c.367A>G, XR_001747177.3:n.407A>G, XR_001747177.2:n.407A>G, XR_001747177.1:n.407A>G, XM_017016509.2:c.367A>G, XM_017016509.1:c.367A>G, NM_001167880.2:c.367A>G, NM_001167880.1:c.367A>G, NM_001318331.2:c.367A>G, NM_001318331.1:c.367A>G, NM_001318332.2:c.367A>G, NM_001318332.1:c.367A>G, XM_024448122.1:c.367A>G, XP_011538360.1:p.Ile123Val, XP_005270083.1:p.Ile123Val, NP_071409.3:p.Ile123Val, XP_016871998.1:p.Ile123Val, NP_001161352.1:p.Ile123Val, NP_001305260.1:p.Ile123Val, NP_001305261.1:p.Ile123Val, XP_024303890.1:p.Ile123Val

Select item 144593799319.

rs1445937993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:124613269 (GRCh38)
10:126301838 (GRCh37)
Canonical SPDI:: NC_000010.11:124613268:G:A,NC_000010.11:124613268:G:T
Gene:: LHPP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.124613269G>A, NC_000010.11:g.124613269G>T, NC_000010.10:g.126301838G>A, NC_000010.10:g.126301838G>T, XM_005270026.4:c.837G>A, XM_005270026.4:c.837G>T, XM_005270026.3:c.837G>A, XM_005270026.3:c.837G>T, XM_005270026.2:c.837G>A, XM_005270026.2:c.837G>T, XM_005270026.1:c.837G>A, XM_005270026.1:c.837G>T, NM_022126.4:c.722G>A, NM_022126.4:c.722G>T, NM_022126.3:c.722G>A, NM_022126.3:c.722G>T, NM_001167880.2:c.630G>A, NM_001167880.2:c.630G>T, NM_001167880.1:c.630G>A, NM_001167880.1:c.630G>T, NM_001318331.2:c.473G>A, NM_001318331.2:c.473G>T, NM_001318331.1:c.473G>A, NM_001318331.1:c.473G>T, XP_005270083.1:p.Gln279His, NP_071409.3:p.Ser241Asn, NP_071409.3:p.Ser241Ile, NP_001161352.1:p.Gln210His, NP_001305260.1:p.Ser158Asn, NP_001305260.1:p.Ser158Ile

Select item 144083444720.

rs1440834447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:124461949 (GRCh38)
10:126150518 (GRCh37)
Canonical SPDI:: NC_000010.11:124461948:C:T
Gene:: LHPP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.124461949C>T, NC_000010.10:g.126150518C>T, XM_011540058.4:c.87C>T, XM_011540058.3:c.87C>T, XM_011540058.2:c.87C>T, XM_011540058.1:c.87C>T, XM_005270026.4:c.87C>T, XM_005270026.3:c.87C>T, XM_005270026.2:c.87C>T, XM_005270026.1:c.87C>T, NM_022126.4:c.87C>T, NM_022126.3:c.87C>T, XR_001747177.3:n.127C>T, XR_001747177.2:n.127C>T, XR_001747177.1:n.127C>T, XM_017016509.2:c.87C>T, XM_017016509.1:c.87C>T, NM_001167880.2:c.87C>T, NM_001167880.1:c.87C>T, NM_001318331.2:c.87C>T, NM_001318331.1:c.87C>T, NM_001318332.2:c.87C>T, NM_001318332.1:c.87C>T, XM_024448122.1:c.87C>T

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