SNP Links for Protein (Select 1034608183) - SNP

Links from Protein

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Select item 14893177101.

rs1489317710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43648947 (GRCh38)
19:44153099 (GRCh37)
Canonical SPDI:: NC_000019.10:43648946:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_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_000019.10:g.43648947G>A, NC_000019.9:g.44153099G>A, NG_032898.1:g.26400C>T, NM_002659.4:c.951C>T, NM_002659.3:c.951C>T, NM_001005377.3:c.816C>T, NM_001005377.2:c.816C>T, NM_001301037.2:c.804C>T, NM_001301037.1:c.804C>T, XM_017026872.3:c.936C>T, XM_017026872.2:c.936C>T, XM_017026872.1:c.936C>T, XM_047438929.1:c.801C>T, XM_047438930.1:c.789C>T, XM_047438925.1:c.951C>T, XM_047438926.1:c.816C>T, XM_047438927.1:c.807C>T, XM_047438928.1:c.804C>T, XM_047438933.1:c.672C>T, XM_047438934.1:c.669C>T

Select item 14851962202.

rs1485196220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43665454 (GRCh38)
19:44169606 (GRCh37)
Canonical SPDI:: NC_000019.10:43665453:C:G
Gene:: PLAUR (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43665454C>G, NC_000019.9:g.44169606C>G, NG_032898.1:g.9893G>C, NM_002659.4:c.172G>C, NM_002659.3:c.172G>C, NM_001005376.3:c.172G>C, NM_001005376.2:c.172G>C, NM_001005377.3:c.172G>C, NM_001005377.2:c.172G>C, NM_001301037.2:c.172G>C, NM_001301037.1:c.172G>C, XM_017026872.3:c.157G>C, XM_017026872.2:c.157G>C, XM_017026872.1:c.157G>C, XM_047438929.1:c.157G>C, XM_047438930.1:c.157G>C, XM_047438925.1:c.172G>C, XM_047438931.1:c.157G>C, XM_047438926.1:c.172G>C, XM_047438928.1:c.172G>C, XM_047438934.1:c.172G>C, XM_047438935.1:c.172G>C, XM_047438932.1:c.172G>C, NP_002650.1:p.Glu58Gln, NP_001005376.1:p.Glu58Gln, NP_001005377.1:p.Glu58Gln, NP_001287966.1:p.Glu58Gln, XP_016882361.1:p.Glu53Gln, XP_047294885.1:p.Glu53Gln, XP_047294886.1:p.Glu53Gln, XP_047294881.1:p.Glu58Gln, XP_047294887.1:p.Glu53Gln, XP_047294882.1:p.Glu58Gln, XP_047294884.1:p.Glu58Gln, XP_047294890.1:p.Glu58Gln, XP_047294891.1:p.Glu58Gln, XP_047294888.1:p.Glu58Gln

Select item 14843517763.

rs1484351776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:43667786 (GRCh38)
19:44171938 (GRCh37)
Canonical SPDI:: NC_000019.10:43667785:C:G,NC_000019.10:43667785:C:T
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43667786C>G, NC_000019.10:g.43667786C>T, NC_000019.9:g.44171938C>G, NC_000019.9:g.44171938C>T, NG_032898.1:g.7561G>C, NG_032898.1:g.7561G>A, XM_017026872.3:c.31G>C, XM_017026872.3:c.31G>A, XM_017026872.2:c.31G>C, XM_017026872.2:c.31G>A, XM_017026872.1:c.31G>C, XM_017026872.1:c.31G>A, XM_047438929.1:c.31G>C, XM_047438929.1:c.31G>A, XM_047438930.1:c.31G>C, XM_047438930.1:c.31G>A, XM_047438931.1:c.31G>C, XM_047438931.1:c.31G>A, XP_016882361.1:p.Glu11Gln, XP_016882361.1:p.Glu11Lys, XP_047294885.1:p.Glu11Gln, XP_047294885.1:p.Glu11Lys, XP_047294886.1:p.Glu11Gln, XP_047294886.1:p.Glu11Lys, XP_047294887.1:p.Glu11Gln, XP_047294887.1:p.Glu11Lys

Select item 14806877884.

rs1480687788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:43665354 (GRCh38)
19:44169506 (GRCh37)
Canonical SPDI:: NC_000019.10:43665353:A:C,NC_000019.10:43665353:A:G
Gene:: PLAUR (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.00765/14 (Korea1K)
HGVS:: NC_000019.10:g.43665354A>C, NC_000019.10:g.43665354A>G, NC_000019.9:g.44169506A>C, NC_000019.9:g.44169506A>G, NG_032898.1:g.9993T>G, NG_032898.1:g.9993T>C, NM_002659.4:c.272T>G, NM_002659.4:c.272T>C, NM_002659.3:c.272T>G, NM_002659.3:c.272T>C, NM_001005376.3:c.272T>G, NM_001005376.3:c.272T>C, NM_001005376.2:c.272T>G, NM_001005376.2:c.272T>C, NM_001005377.3:c.272T>G, NM_001005377.3:c.272T>C, NM_001005377.2:c.272T>G, NM_001005377.2:c.272T>C, NM_001301037.2:c.272T>G, NM_001301037.2:c.272T>C, NM_001301037.1:c.272T>G, NM_001301037.1:c.272T>C, XM_017026872.3:c.257T>G, XM_017026872.3:c.257T>C, XM_017026872.2:c.257T>G, XM_017026872.2:c.257T>C, XM_017026872.1:c.257T>G, XM_017026872.1:c.257T>C, XM_047438929.1:c.257T>G, XM_047438929.1:c.257T>C, XM_047438930.1:c.257T>G, XM_047438930.1:c.257T>C, XM_047438925.1:c.272T>G, XM_047438925.1:c.272T>C, XM_047438931.1:c.257T>G, XM_047438931.1:c.257T>C, XM_047438926.1:c.272T>G, XM_047438926.1:c.272T>C, XM_047438928.1:c.272T>G, XM_047438928.1:c.272T>C, XM_047438934.1:c.272T>G, XM_047438934.1:c.272T>C, XM_047438935.1:c.272T>G, XM_047438935.1:c.272T>C, XM_047438932.1:c.272T>G, XM_047438932.1:c.272T>C, NP_002650.1:p.Val91Gly, NP_002650.1:p.Val91Ala, NP_001005376.1:p.Val91Gly, NP_001005376.1:p.Val91Ala, NP_001005377.1:p.Val91Gly, NP_001005377.1:p.Val91Ala, NP_001287966.1:p.Val91Gly, NP_001287966.1:p.Val91Ala, XP_016882361.1:p.Val86Gly, XP_016882361.1:p.Val86Ala, XP_047294885.1:p.Val86Gly, XP_047294885.1:p.Val86Ala, XP_047294886.1:p.Val86Gly, XP_047294886.1:p.Val86Ala, XP_047294881.1:p.Val91Gly, XP_047294881.1:p.Val91Ala, XP_047294887.1:p.Val86Gly, XP_047294887.1:p.Val86Ala, XP_047294882.1:p.Val91Gly, XP_047294882.1:p.Val91Ala, XP_047294884.1:p.Val91Gly, XP_047294884.1:p.Val91Ala, XP_047294890.1:p.Val91Gly, XP_047294890.1:p.Val91Ala, XP_047294891.1:p.Val91Gly, XP_047294891.1:p.Val91Ala, XP_047294888.1:p.Val91Gly, XP_047294888.1:p.Val91Ala

Select item 14788185075.

rs1478818507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43649035 (GRCh38)
19:44153187 (GRCh37)
Canonical SPDI:: NC_000019.10:43649034:C:T
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43649035C>T, NC_000019.9:g.44153187C>T, NG_032898.1:g.26312G>A, NM_002659.4:c.863G>A, NM_002659.3:c.863G>A, NM_001005377.3:c.728G>A, NM_001005377.2:c.728G>A, NM_001301037.2:c.716G>A, NM_001301037.1:c.716G>A, XM_017026872.3:c.848G>A, XM_017026872.2:c.848G>A, XM_017026872.1:c.848G>A, XM_047438929.1:c.713G>A, XM_047438930.1:c.701G>A, XM_047438925.1:c.863G>A, XM_047438926.1:c.728G>A, XM_047438927.1:c.719G>A, XM_047438928.1:c.716G>A, XM_047438933.1:c.584G>A, XM_047438934.1:c.581G>A, NP_002650.1:p.Cys288Tyr, NP_001005377.1:p.Cys243Tyr, NP_001287966.1:p.Cys239Tyr, XP_016882361.1:p.Cys283Tyr, XP_047294885.1:p.Cys238Tyr, XP_047294886.1:p.Cys234Tyr, XP_047294881.1:p.Cys288Tyr, XP_047294882.1:p.Cys243Tyr, XP_047294883.1:p.Cys240Tyr, XP_047294884.1:p.Cys239Tyr, XP_047294889.1:p.Cys195Tyr, XP_047294890.1:p.Cys194Tyr

Select item 14746942226.

rs1474694222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43648931 (GRCh38)
19:44153083 (GRCh37)
Canonical SPDI:: NC_000019.10:43648930:T:G
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.43648931T>G, NC_000019.9:g.44153083T>G, NG_032898.1:g.26416A>C, NM_002659.4:c.967A>C, NM_002659.3:c.967A>C, NM_001005377.3:c.832A>C, NM_001005377.2:c.832A>C, NM_001301037.2:c.820A>C, NM_001301037.1:c.820A>C, XM_017026872.3:c.952A>C, XM_017026872.2:c.952A>C, XM_017026872.1:c.952A>C, XM_047438929.1:c.817A>C, XM_047438930.1:c.805A>C, XM_047438925.1:c.967A>C, XM_047438926.1:c.832A>C, XM_047438927.1:c.823A>C, XM_047438928.1:c.820A>C, XM_047438933.1:c.688A>C, XM_047438934.1:c.685A>C, NP_002650.1:p.Met323Leu, NP_001005377.1:p.Met278Leu, NP_001287966.1:p.Met274Leu, XP_016882361.1:p.Met318Leu, XP_047294885.1:p.Met273Leu, XP_047294886.1:p.Met269Leu, XP_047294881.1:p.Met323Leu, XP_047294882.1:p.Met278Leu, XP_047294883.1:p.Met275Leu, XP_047294884.1:p.Met274Leu, XP_047294889.1:p.Met230Leu, XP_047294890.1:p.Met229Leu

Select item 14730224327.

rs1473022432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43648988 (GRCh38)
19:44153140 (GRCh37)
Canonical SPDI:: NC_000019.10:43648987:T:G
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43648988T>G, NC_000019.9:g.44153140T>G, NG_032898.1:g.26359A>C, NM_002659.4:c.910A>C, NM_002659.3:c.910A>C, NM_001005377.3:c.775A>C, NM_001005377.2:c.775A>C, NM_001301037.2:c.763A>C, NM_001301037.1:c.763A>C, XM_017026872.3:c.895A>C, XM_017026872.2:c.895A>C, XM_017026872.1:c.895A>C, XM_047438929.1:c.760A>C, XM_047438930.1:c.748A>C, XM_047438925.1:c.910A>C, XM_047438926.1:c.775A>C, XM_047438927.1:c.766A>C, XM_047438928.1:c.763A>C, XM_047438933.1:c.631A>C, XM_047438934.1:c.628A>C, NP_002650.1:p.Ser304Arg, NP_001005377.1:p.Ser259Arg, NP_001287966.1:p.Ser255Arg, XP_016882361.1:p.Ser299Arg, XP_047294885.1:p.Ser254Arg, XP_047294886.1:p.Ser250Arg, XP_047294881.1:p.Ser304Arg, XP_047294882.1:p.Ser259Arg, XP_047294883.1:p.Ser256Arg, XP_047294884.1:p.Ser255Arg, XP_047294889.1:p.Ser211Arg, XP_047294890.1:p.Ser210Arg

Select item 14686759388.

rs1468675938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43655540 (GRCh38)
19:44159692 (GRCh37)
Canonical SPDI:: NC_000019.10:43655539:C:T
Gene:: PLAUR (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000019.10:g.43655540C>T, NC_000019.9:g.44159692C>T, NG_032898.1:g.19807G>A, NM_002659.4:c.506G>A, NM_002659.3:c.506G>A, NM_001005376.3:c.506G>A, NM_001005376.2:c.506G>A, NM_001301037.2:c.506G>A, NM_001301037.1:c.506G>A, XM_017026872.3:c.491G>A, XM_017026872.2:c.491G>A, XM_017026872.1:c.491G>A, XM_047438930.1:c.491G>A, XM_047438925.1:c.506G>A, XM_047438931.1:c.491G>A, XM_047438927.1:c.362G>A, XM_047438928.1:c.506G>A, XM_047438936.1:c.362G>A, XM_047438932.1:c.506G>A, NP_002650.1:p.Cys169Tyr, NP_001005376.1:p.Cys169Tyr, NP_001287966.1:p.Cys169Tyr, XP_016882361.1:p.Cys164Tyr, XP_047294886.1:p.Cys164Tyr, XP_047294881.1:p.Cys169Tyr, XP_047294887.1:p.Cys164Tyr, XP_047294883.1:p.Cys121Tyr, XP_047294884.1:p.Cys169Tyr, XP_047294892.1:p.Cys121Tyr, XP_047294888.1:p.Cys169Tyr

Select item 14668758989.

rs1466875898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43655559 (GRCh38)
19:44159711 (GRCh37)
Canonical SPDI:: NC_000019.10:43655558:C:T
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43655559C>T, NC_000019.9:g.44159711C>T, NG_032898.1:g.19788G>A, NM_002659.4:c.487G>A, NM_002659.3:c.487G>A, NM_001005376.3:c.487G>A, NM_001005376.2:c.487G>A, NM_001301037.2:c.487G>A, NM_001301037.1:c.487G>A, XM_017026872.3:c.472G>A, XM_017026872.2:c.472G>A, XM_017026872.1:c.472G>A, XM_047438930.1:c.472G>A, XM_047438925.1:c.487G>A, XM_047438931.1:c.472G>A, XM_047438927.1:c.343G>A, XM_047438928.1:c.487G>A, XM_047438936.1:c.343G>A, XM_047438932.1:c.487G>A, NP_002650.1:p.Asp163Asn, NP_001005376.1:p.Asp163Asn, NP_001287966.1:p.Asp163Asn, XP_016882361.1:p.Asp158Asn, XP_047294886.1:p.Asp158Asn, XP_047294881.1:p.Asp163Asn, XP_047294887.1:p.Asp158Asn, XP_047294883.1:p.Asp115Asn, XP_047294884.1:p.Asp163Asn, XP_047294892.1:p.Asp115Asn, XP_047294888.1:p.Asp163Asn

Select item 146121015210.

rs1461210152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43656492 (GRCh38)
19:44160644 (GRCh37)
Canonical SPDI:: NC_000019.10:43656491:C:T
Gene:: PLAUR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43656492C>T, NC_000019.9:g.44160644C>T, NG_032898.1:g.18855G>A, NM_002659.4:c.459G>A, NM_002659.3:c.459G>A, NM_001005376.3:c.459G>A, NM_001005376.2:c.459G>A, NM_001005377.3:c.459G>A, NM_001005377.2:c.459G>A, NM_001301037.2:c.459G>A, NM_001301037.1:c.459G>A, XM_017026872.3:c.444G>A, XM_017026872.2:c.444G>A, XM_017026872.1:c.444G>A, XM_047438929.1:c.444G>A, XM_047438930.1:c.444G>A, XM_047438925.1:c.459G>A, XM_047438931.1:c.444G>A, XM_047438926.1:c.459G>A, XM_047438927.1:c.315G>A, XM_047438928.1:c.459G>A, XM_047438933.1:c.315G>A, XM_047438934.1:c.459G>A, XM_047438935.1:c.459G>A, XM_047438936.1:c.315G>A, XM_047438937.1:c.315G>A, XM_047438932.1:c.459G>A

Select item 145915896311.

rs1459158963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43667650 (GRCh38)
19:44171802 (GRCh37)
Canonical SPDI:: NC_000019.10:43667649:C:T
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43667650C>T, NC_000019.9:g.44171802C>T, NG_032898.1:g.7697G>A, NM_002659.4:c.97G>A, NM_002659.3:c.97G>A, NM_001005376.3:c.97G>A, NM_001005376.2:c.97G>A, NM_001005377.3:c.97G>A, NM_001005377.2:c.97G>A, NM_001301037.2:c.97G>A, NM_001301037.1:c.97G>A, XM_017026872.3:c.82G>A, XM_017026872.2:c.82G>A, XM_017026872.1:c.82G>A, XM_047438929.1:c.82G>A, XM_047438930.1:c.82G>A, XM_047438925.1:c.97G>A, XM_047438931.1:c.82G>A, XM_047438926.1:c.97G>A, XM_047438927.1:c.97G>A, XM_047438928.1:c.97G>A, XM_047438933.1:c.97G>A, XM_047438934.1:c.97G>A, XM_047438935.1:c.97G>A, XM_047438936.1:c.97G>A, XM_047438937.1:c.97G>A, XM_047438932.1:c.97G>A, NP_002650.1:p.Asp33Asn, NP_001005376.1:p.Asp33Asn, NP_001005377.1:p.Asp33Asn, NP_001287966.1:p.Asp33Asn, XP_016882361.1:p.Asp28Asn, XP_047294885.1:p.Asp28Asn, XP_047294886.1:p.Asp28Asn, XP_047294881.1:p.Asp33Asn, XP_047294887.1:p.Asp28Asn, XP_047294882.1:p.Asp33Asn, XP_047294883.1:p.Asp33Asn, XP_047294884.1:p.Asp33Asn, XP_047294889.1:p.Asp33Asn, XP_047294890.1:p.Asp33Asn, XP_047294891.1:p.Asp33Asn, XP_047294892.1:p.Asp33Asn, XP_047294893.1:p.Asp33Asn, XP_047294888.1:p.Asp33Asn

Select item 145906893512.

rs1459068935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43652239 (GRCh38)
19:44156391 (GRCh37)
Canonical SPDI:: NC_000019.10:43652238:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43652239G>A, NC_000019.9:g.44156391G>A, NG_032898.1:g.23108C>T, NM_002659.4:c.740C>T, NM_002659.3:c.740C>T, NM_001005376.3:c.740C>T, NM_001005376.2:c.740C>T, NM_001005377.3:c.605C>T, NM_001005377.2:c.605C>T, XM_017026872.3:c.725C>T, XM_017026872.2:c.725C>T, XM_017026872.1:c.725C>T, XM_047438929.1:c.590C>T, XM_047438925.1:c.740C>T, XM_047438931.1:c.725C>T, XM_047438926.1:c.605C>T, XM_047438927.1:c.596C>T, XM_047438933.1:c.461C>T, XM_047438935.1:c.605C>T, XM_047438936.1:c.596C>T, XM_047438937.1:c.461C>T, XM_047438932.1:c.*16C>T, NP_002650.1:p.Ala247Val, NP_001005376.1:p.Ala247Val, NP_001005377.1:p.Ala202Val, XP_016882361.1:p.Ala242Val, XP_047294885.1:p.Ala197Val, XP_047294881.1:p.Ala247Val, XP_047294887.1:p.Ala242Val, XP_047294882.1:p.Ala202Val, XP_047294883.1:p.Ala199Val, XP_047294889.1:p.Ala154Val, XP_047294891.1:p.Ala202Val, XP_047294892.1:p.Ala199Val, XP_047294893.1:p.Ala154Val

Select item 145090791613.

rs1450907916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:43667669 (GRCh38)
19:44171821 (GRCh37)
Canonical SPDI:: NC_000019.10:43667668:C:A,NC_000019.10:43667668:C:G
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.43667669C>A, NC_000019.10:g.43667669C>G, NC_000019.9:g.44171821C>A, NC_000019.9:g.44171821C>G, NG_032898.1:g.7678G>T, NG_032898.1:g.7678G>C, NM_002659.4:c.78G>T, NM_002659.4:c.78G>C, NM_002659.3:c.78G>T, NM_002659.3:c.78G>C, NM_001005376.3:c.78G>T, NM_001005376.3:c.78G>C, NM_001005376.2:c.78G>T, NM_001005376.2:c.78G>C, NM_001005377.3:c.78G>T, NM_001005377.3:c.78G>C, NM_001005377.2:c.78G>T, NM_001005377.2:c.78G>C, NM_001301037.2:c.78G>T, NM_001301037.2:c.78G>C, NM_001301037.1:c.78G>T, NM_001301037.1:c.78G>C, XM_017026872.3:c.63G>T, XM_017026872.3:c.63G>C, XM_017026872.2:c.63G>T, XM_017026872.2:c.63G>C, XM_017026872.1:c.63G>T, XM_017026872.1:c.63G>C, XM_047438929.1:c.63G>T, XM_047438929.1:c.63G>C, XM_047438930.1:c.63G>T, XM_047438930.1:c.63G>C, XM_047438925.1:c.78G>T, XM_047438925.1:c.78G>C, XM_047438931.1:c.63G>T, XM_047438931.1:c.63G>C, XM_047438926.1:c.78G>T, XM_047438926.1:c.78G>C, XM_047438927.1:c.78G>T, XM_047438927.1:c.78G>C, XM_047438928.1:c.78G>T, XM_047438928.1:c.78G>C, XM_047438933.1:c.78G>T, XM_047438933.1:c.78G>C, XM_047438934.1:c.78G>T, XM_047438934.1:c.78G>C, XM_047438935.1:c.78G>T, XM_047438935.1:c.78G>C, XM_047438936.1:c.78G>T, XM_047438936.1:c.78G>C, XM_047438937.1:c.78G>T, XM_047438937.1:c.78G>C, XM_047438932.1:c.78G>T, XM_047438932.1:c.78G>C, NP_002650.1:p.Met26Ile, NP_002650.1:p.Met26Ile, NP_001005376.1:p.Met26Ile, NP_001005376.1:p.Met26Ile, NP_001005377.1:p.Met26Ile, NP_001005377.1:p.Met26Ile, NP_001287966.1:p.Met26Ile, NP_001287966.1:p.Met26Ile, XP_016882361.1:p.Met21Ile, XP_016882361.1:p.Met21Ile, XP_047294885.1:p.Met21Ile, XP_047294885.1:p.Met21Ile, XP_047294886.1:p.Met21Ile, XP_047294886.1:p.Met21Ile, XP_047294881.1:p.Met26Ile, XP_047294881.1:p.Met26Ile, XP_047294887.1:p.Met21Ile, XP_047294887.1:p.Met21Ile, XP_047294882.1:p.Met26Ile, XP_047294882.1:p.Met26Ile, XP_047294883.1:p.Met26Ile, XP_047294883.1:p.Met26Ile, XP_047294884.1:p.Met26Ile, XP_047294884.1:p.Met26Ile, XP_047294889.1:p.Met26Ile, XP_047294889.1:p.Met26Ile, XP_047294890.1:p.Met26Ile, XP_047294890.1:p.Met26Ile, XP_047294891.1:p.Met26Ile, XP_047294891.1:p.Met26Ile, XP_047294892.1:p.Met26Ile, XP_047294892.1:p.Met26Ile, XP_047294893.1:p.Met26Ile, XP_047294893.1:p.Met26Ile, XP_047294888.1:p.Met26Ile, XP_047294888.1:p.Met26Ile

Select item 144922680714.

rs1449226807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:43649014 (GRCh38)
19:44153166 (GRCh37)
Canonical SPDI:: NC_000019.10:43649013:T:A,NC_000019.10:43649013:T:C
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43649014T>A, NC_000019.10:g.43649014T>C, NC_000019.9:g.44153166T>A, NC_000019.9:g.44153166T>C, NG_032898.1:g.26333A>T, NG_032898.1:g.26333A>G, NM_002659.4:c.884A>T, NM_002659.4:c.884A>G, NM_002659.3:c.884A>T, NM_002659.3:c.884A>G, NM_001005377.3:c.749A>T, NM_001005377.3:c.749A>G, NM_001005377.2:c.749A>T, NM_001005377.2:c.749A>G, NM_001301037.2:c.737A>T, NM_001301037.2:c.737A>G, NM_001301037.1:c.737A>T, NM_001301037.1:c.737A>G, XM_017026872.3:c.869A>T, XM_017026872.3:c.869A>G, XM_017026872.2:c.869A>T, XM_017026872.2:c.869A>G, XM_017026872.1:c.869A>T, XM_017026872.1:c.869A>G, XM_047438929.1:c.734A>T, XM_047438929.1:c.734A>G, XM_047438930.1:c.722A>T, XM_047438930.1:c.722A>G, XM_047438925.1:c.884A>T, XM_047438925.1:c.884A>G, XM_047438926.1:c.749A>T, XM_047438926.1:c.749A>G, XM_047438927.1:c.740A>T, XM_047438927.1:c.740A>G, XM_047438928.1:c.737A>T, XM_047438928.1:c.737A>G, XM_047438933.1:c.605A>T, XM_047438933.1:c.605A>G, XM_047438934.1:c.602A>T, XM_047438934.1:c.602A>G, NP_002650.1:p.His295Leu, NP_002650.1:p.His295Arg, NP_001005377.1:p.His250Leu, NP_001005377.1:p.His250Arg, NP_001287966.1:p.His246Leu, NP_001287966.1:p.His246Arg, XP_016882361.1:p.His290Leu, XP_016882361.1:p.His290Arg, XP_047294885.1:p.His245Leu, XP_047294885.1:p.His245Arg, XP_047294886.1:p.His241Leu, XP_047294886.1:p.His241Arg, XP_047294881.1:p.His295Leu, XP_047294881.1:p.His295Arg, XP_047294882.1:p.His250Leu, XP_047294882.1:p.His250Arg, XP_047294883.1:p.His247Leu, XP_047294883.1:p.His247Arg, XP_047294884.1:p.His246Leu, XP_047294884.1:p.His246Arg, XP_047294889.1:p.His202Leu, XP_047294889.1:p.His202Arg, XP_047294890.1:p.His201Leu, XP_047294890.1:p.His201Arg

Select item 144076960015.

rs1440769600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43667677 (GRCh38)
19:44171829 (GRCh37)
Canonical SPDI:: NC_000019.10:43667676:G:A,NC_000019.10:43667676:G:C
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43667677G>A, NC_000019.10:g.43667677G>C, NC_000019.9:g.44171829G>A, NC_000019.9:g.44171829G>C, NG_032898.1:g.7670C>T, NG_032898.1:g.7670C>G, NM_002659.4:c.70C>T, NM_002659.4:c.70C>G, NM_002659.3:c.70C>T, NM_002659.3:c.70C>G, NM_001005376.3:c.70C>T, NM_001005376.3:c.70C>G, NM_001005376.2:c.70C>T, NM_001005376.2:c.70C>G, NM_001005377.3:c.70C>T, NM_001005377.3:c.70C>G, NM_001005377.2:c.70C>T, NM_001005377.2:c.70C>G, NM_001301037.2:c.70C>T, NM_001301037.2:c.70C>G, NM_001301037.1:c.70C>T, NM_001301037.1:c.70C>G, XM_017026872.3:c.55C>T, XM_017026872.3:c.55C>G, XM_017026872.2:c.55C>T, XM_017026872.2:c.55C>G, XM_017026872.1:c.55C>T, XM_017026872.1:c.55C>G, XM_047438929.1:c.55C>T, XM_047438929.1:c.55C>G, XM_047438930.1:c.55C>T, XM_047438930.1:c.55C>G, XM_047438925.1:c.70C>T, XM_047438925.1:c.70C>G, XM_047438931.1:c.55C>T, XM_047438931.1:c.55C>G, XM_047438926.1:c.70C>T, XM_047438926.1:c.70C>G, XM_047438927.1:c.70C>T, XM_047438927.1:c.70C>G, XM_047438928.1:c.70C>T, XM_047438928.1:c.70C>G, XM_047438933.1:c.70C>T, XM_047438933.1:c.70C>G, XM_047438934.1:c.70C>T, XM_047438934.1:c.70C>G, XM_047438935.1:c.70C>T, XM_047438935.1:c.70C>G, XM_047438936.1:c.70C>T, XM_047438936.1:c.70C>G, XM_047438937.1:c.70C>T, XM_047438937.1:c.70C>G, XM_047438932.1:c.70C>T, XM_047438932.1:c.70C>G, NP_002650.1:p.Arg24Trp, NP_002650.1:p.Arg24Gly, NP_001005376.1:p.Arg24Trp, NP_001005376.1:p.Arg24Gly, NP_001005377.1:p.Arg24Trp, NP_001005377.1:p.Arg24Gly, NP_001287966.1:p.Arg24Trp, NP_001287966.1:p.Arg24Gly, XP_016882361.1:p.Arg19Trp, XP_016882361.1:p.Arg19Gly, XP_047294885.1:p.Arg19Trp, XP_047294885.1:p.Arg19Gly, XP_047294886.1:p.Arg19Trp, XP_047294886.1:p.Arg19Gly, XP_047294881.1:p.Arg24Trp, XP_047294881.1:p.Arg24Gly, XP_047294887.1:p.Arg19Trp, XP_047294887.1:p.Arg19Gly, XP_047294882.1:p.Arg24Trp, XP_047294882.1:p.Arg24Gly, XP_047294883.1:p.Arg24Trp, XP_047294883.1:p.Arg24Gly, XP_047294884.1:p.Arg24Trp, XP_047294884.1:p.Arg24Gly, XP_047294889.1:p.Arg24Trp, XP_047294889.1:p.Arg24Gly, XP_047294890.1:p.Arg24Trp, XP_047294890.1:p.Arg24Gly, XP_047294891.1:p.Arg24Trp, XP_047294891.1:p.Arg24Gly, XP_047294892.1:p.Arg24Trp, XP_047294892.1:p.Arg24Gly, XP_047294893.1:p.Arg24Trp, XP_047294893.1:p.Arg24Gly, XP_047294888.1:p.Arg24Trp, XP_047294888.1:p.Arg24Gly

Select item 143965577216.

rs1439655772 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 19:43656483 (GRCh38)
19:44160635 (GRCh37)
Canonical SPDI:: NC_000019.10:43656478:CTTCTTC:CTTC
Gene:: PLAUR (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43656480TTC[1], NC_000019.9:g.44160632TTC[1], NG_032898.1:g.18863AAG[1], NM_002659.4:c.467AAG[1], NM_002659.3:c.467AAG[1], NM_001005376.3:c.467AAG[1], NM_001005376.2:c.467AAG[1], NM_001005377.3:c.467AAG[1], NM_001005377.2:c.467AAG[1], NM_001301037.2:c.467AAG[1], NM_001301037.1:c.467AAG[1], XM_017026872.3:c.452AAG[1], XM_017026872.2:c.452AAG[1], XM_017026872.1:c.452AAG[1], XM_047438929.1:c.452AAG[1], XM_047438930.1:c.452AAG[1], XM_047438925.1:c.467AAG[1], XM_047438931.1:c.452AAG[1], XM_047438926.1:c.467AAG[1], XM_047438927.1:c.323AAG[1], XM_047438928.1:c.467AAG[1], XM_047438933.1:c.323AAG[1], XM_047438934.1:c.466GAA[2], XM_047438935.1:c.467AAG[1], XM_047438936.1:c.323AAG[1], XM_047438937.1:c.323AAG[1], XM_047438932.1:c.467AAG[1], NP_002650.1:p.Glu157del, NP_001005376.1:p.Glu157del, NP_001005377.1:p.Glu157del, NP_001287966.1:p.Glu157del, XP_016882361.1:p.Glu152del, XP_047294885.1:p.Glu152del, XP_047294886.1:p.Glu152del, XP_047294881.1:p.Glu157del, XP_047294887.1:p.Glu152del, XP_047294882.1:p.Glu157del, XP_047294883.1:p.Glu109del, XP_047294884.1:p.Glu157del, XP_047294889.1:p.Glu109del, XP_047294890.1:p.Glu158del, XP_047294891.1:p.Glu157del, XP_047294892.1:p.Glu109del, XP_047294893.1:p.Glu109del, XP_047294888.1:p.Glu157del

Select item 143067529617.

rs1430675296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43667678 (GRCh38)
19:44171830 (GRCh37)
Canonical SPDI:: NC_000019.10:43667677:C:A
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.43667678C>A, NC_000019.9:g.44171830C>A, NG_032898.1:g.7669G>T, NM_002659.4:c.69G>T, NM_002659.3:c.69G>T, NM_001005376.3:c.69G>T, NM_001005376.2:c.69G>T, NM_001005377.3:c.69G>T, NM_001005377.2:c.69G>T, NM_001301037.2:c.69G>T, NM_001301037.1:c.69G>T, XM_017026872.3:c.54G>T, XM_017026872.2:c.54G>T, XM_017026872.1:c.54G>T, XM_047438929.1:c.54G>T, XM_047438930.1:c.54G>T, XM_047438925.1:c.69G>T, XM_047438931.1:c.54G>T, XM_047438926.1:c.69G>T, XM_047438927.1:c.69G>T, XM_047438928.1:c.69G>T, XM_047438933.1:c.69G>T, XM_047438934.1:c.69G>T, XM_047438935.1:c.69G>T, XM_047438936.1:c.69G>T, XM_047438937.1:c.69G>T, XM_047438932.1:c.69G>T

Select item 143004991018.

rs1430049910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43652339 (GRCh38)
19:44156491 (GRCh37)
Canonical SPDI:: NC_000019.10:43652338:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43652339G>A, NC_000019.9:g.44156491G>A, NG_032898.1:g.23008C>T, NM_002659.4:c.640C>T, NM_002659.3:c.640C>T, NM_001005376.3:c.640C>T, NM_001005376.2:c.640C>T, NM_001005377.3:c.505C>T, NM_001005377.2:c.505C>T, XM_017026872.3:c.625C>T, XM_017026872.2:c.625C>T, XM_017026872.1:c.625C>T, XM_047438929.1:c.490C>T, XM_047438925.1:c.640C>T, XM_047438931.1:c.625C>T, XM_047438926.1:c.505C>T, XM_047438927.1:c.496C>T, XM_047438933.1:c.361C>T, XM_047438935.1:c.505C>T, XM_047438936.1:c.496C>T, XM_047438937.1:c.361C>T, XM_047438932.1:c.660C>T, NP_002650.1:p.Arg214Cys, NP_001005376.1:p.Arg214Cys, NP_001005377.1:p.Arg169Cys, XP_016882361.1:p.Arg209Cys, XP_047294885.1:p.Arg164Cys, XP_047294881.1:p.Arg214Cys, XP_047294887.1:p.Arg209Cys, XP_047294882.1:p.Arg169Cys, XP_047294883.1:p.Arg166Cys, XP_047294889.1:p.Arg121Cys, XP_047294891.1:p.Arg169Cys, XP_047294892.1:p.Arg166Cys, XP_047294893.1:p.Arg121Cys

Select item 142726844819.

rs1427268448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43649037 (GRCh38)
19:44153189 (GRCh37)
Canonical SPDI:: NC_000019.10:43649036:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43649037G>A, NC_000019.9:g.44153189G>A, NG_032898.1:g.26310C>T, NM_002659.4:c.861C>T, NM_002659.3:c.861C>T, NM_001005377.3:c.726C>T, NM_001005377.2:c.726C>T, NM_001301037.2:c.714C>T, NM_001301037.1:c.714C>T, XM_017026872.3:c.846C>T, XM_017026872.2:c.846C>T, XM_017026872.1:c.846C>T, XM_047438929.1:c.711C>T, XM_047438930.1:c.699C>T, XM_047438925.1:c.861C>T, XM_047438926.1:c.726C>T, XM_047438927.1:c.717C>T, XM_047438928.1:c.714C>T, XM_047438933.1:c.582C>T, XM_047438934.1:c.579C>T

Select item 142596048920.

rs1425960489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43656578 (GRCh38)
19:44160730 (GRCh37)
Canonical SPDI:: NC_000019.10:43656577:T:C
Gene:: PLAUR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.43656578T>C, NC_000019.9:g.44160730T>C, NG_032898.1:g.18769A>G, NM_002659.4:c.373A>G, NM_002659.3:c.373A>G, NM_001005376.3:c.373A>G, NM_001005376.2:c.373A>G, NM_001005377.3:c.373A>G, NM_001005377.2:c.373A>G, NM_001301037.2:c.373A>G, NM_001301037.1:c.373A>G, XM_017026872.3:c.358A>G, XM_017026872.2:c.358A>G, XM_017026872.1:c.358A>G, XM_047438929.1:c.358A>G, XM_047438930.1:c.358A>G, XM_047438925.1:c.373A>G, XM_047438931.1:c.358A>G, XM_047438926.1:c.373A>G, XM_047438927.1:c.229A>G, XM_047438928.1:c.373A>G, XM_047438933.1:c.229A>G, XM_047438934.1:c.373A>G, XM_047438935.1:c.373A>G, XM_047438936.1:c.229A>G, XM_047438937.1:c.229A>G, XM_047438932.1:c.373A>G, NP_002650.1:p.Met125Val, NP_001005376.1:p.Met125Val, NP_001005377.1:p.Met125Val, NP_001287966.1:p.Met125Val, XP_016882361.1:p.Met120Val, XP_047294885.1:p.Met120Val, XP_047294886.1:p.Met120Val, XP_047294881.1:p.Met125Val, XP_047294887.1:p.Met120Val, XP_047294882.1:p.Met125Val, XP_047294883.1:p.Met77Val, XP_047294884.1:p.Met125Val, XP_047294889.1:p.Met77Val, XP_047294890.1:p.Met125Val, XP_047294891.1:p.Met125Val, XP_047294892.1:p.Met77Val, XP_047294893.1:p.Met77Val, XP_047294888.1:p.Met125Val

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