SNP Links for Protein (Select 768038764) - SNP

Links from Protein

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Select item 14823097421.

rs1482309742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130669990 (GRCh38)
X:129803964 (GRCh37)
Canonical SPDI:: NC_000023.11:130669989:G:A
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130669990G>A, NC_000023.10:g.129803964G>A, NG_012562.2:g.238245C>T, NM_006375.4:c.669C>T, NM_006375.3:c.669C>T, NM_006375.2:c.669C>T, NM_182314.3:c.756C>T, NM_182314.2:c.756C>T, NM_182314.1:c.756C>T, NM_001281736.2:c.669C>T, NM_001281736.1:c.669C>T, NM_001382516.1:c.756C>T, NM_001382518.1:c.945C>T, NM_001382519.1:c.756C>T, NM_001382522.1:c.669C>T, NM_001382517.1:c.756C>T, NM_001382520.1:c.756C>T, NM_001382521.1:c.669C>T, XM_011531245.3:c.945C>T, XM_011531245.2:c.945C>T, XM_011531245.1:c.945C>T, XM_011531249.3:c.756C>T, XM_011531249.2:c.756C>T, XM_011531249.1:c.756C>T, XM_047441771.1:c.669C>T, XM_047441770.1:c.669C>T, XM_047441767.1:c.756C>T, XM_047441768.1:c.756C>T, XM_047441769.1:c.669C>T, XM_047441766.1:c.873C>T, XM_047441773.1:c.669C>T, XM_047441772.1:c.669C>T

Select item 14786892222.

rs1478689222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:130625445 (GRCh38)
X:129759419 (GRCh37)
Canonical SPDI:: NC_000023.11:130625444:T:A
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130625445T>A, NC_000023.10:g.129759419T>A, NG_012562.2:g.282790A>T, NM_006375.4:c.1615A>T, NM_006375.3:c.1615A>T, NM_006375.2:c.1615A>T, NM_182314.3:c.1702A>T, NM_182314.2:c.1702A>T, NM_182314.1:c.1702A>T, NM_001281736.2:c.1615A>T, NM_001281736.1:c.1615A>T, NM_001382516.1:c.1702A>T, NM_001382518.1:c.1891A>T, NM_001382519.1:c.1696A>T, NM_001382522.1:c.1609A>T, NM_001382517.1:c.1702A>T, NM_001382520.1:c.1696A>T, NM_001382521.1:c.1609A>T, XM_011531245.3:c.1885A>T, XM_011531245.2:c.1885A>T, XM_011531245.1:c.1885A>T, XM_011531249.3:c.1702A>T, XM_011531249.2:c.1702A>T, XM_011531249.1:c.1702A>T, XM_047441771.1:c.1615A>T, XM_047441770.1:c.1615A>T, XM_047441767.1:c.1702A>T, XM_047441768.1:c.1696A>T, XM_047441769.1:c.1615A>T, XM_047441766.1:c.1819A>T, XM_047441773.1:c.1615A>T, XM_047441772.1:c.1615A>T, NP_006366.2:p.Ile539Phe, NP_872114.1:p.Ile568Phe, NP_001268665.1:p.Ile539Phe, NP_001369445.1:p.Ile568Phe, NP_001369447.1:p.Ile631Phe, NP_001369448.1:p.Ile566Phe, NP_001369451.1:p.Ile537Phe, NP_001369446.1:p.Ile568Phe, NP_001369449.1:p.Ile566Phe, NP_001369450.1:p.Ile537Phe, XP_011529547.1:p.Ile629Phe, XP_011529551.1:p.Ile568Phe, XP_047297727.1:p.Ile539Phe, XP_047297726.1:p.Ile539Phe, XP_047297723.1:p.Ile568Phe, XP_047297724.1:p.Ile566Phe, XP_047297725.1:p.Ile539Phe, XP_047297722.1:p.Ile607Phe, XP_047297729.1:p.Ile539Phe, XP_047297728.1:p.Ile539Phe

Select item 14763514353.

rs1476351435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:130709277 (GRCh38)
X:129843251 (GRCh37)
Canonical SPDI:: NC_000023.11:130709276:A:C,NC_000023.11:130709276:A:G
Gene:: ENOX2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130709277A>C, NC_000023.11:g.130709277A>G, NC_000023.10:g.129843251A>C, NC_000023.10:g.129843251A>G, NG_012562.2:g.198958T>G, NG_012562.2:g.198958T>C, NM_182314.3:c.15T>G, NM_182314.3:c.15T>C, NM_182314.2:c.15T>G, NM_182314.2:c.15T>C, NM_182314.1:c.15T>G, NM_182314.1:c.15T>C, NM_001382516.1:c.15T>G, NM_001382516.1:c.15T>C, NM_001382519.1:c.15T>G, NM_001382519.1:c.15T>C, NM_001382517.1:c.15T>G, NM_001382517.1:c.15T>C, NM_001382520.1:c.15T>G, NM_001382520.1:c.15T>C, XM_011531249.3:c.15T>G, XM_011531249.3:c.15T>C, XM_011531249.2:c.15T>G, XM_011531249.2:c.15T>C, XM_011531249.1:c.15T>G, XM_011531249.1:c.15T>C, XM_047441767.1:c.15T>G, XM_047441767.1:c.15T>C, XM_047441768.1:c.15T>G, XM_047441768.1:c.15T>C, NP_872114.1:p.Phe5Leu, NP_001369445.1:p.Phe5Leu, NP_001369448.1:p.Phe5Leu, NP_001369446.1:p.Phe5Leu, NP_001369449.1:p.Phe5Leu, XP_011529551.1:p.Phe5Leu, XP_047297723.1:p.Phe5Leu, XP_047297724.1:p.Phe5Leu

Select item 14746280614.

rs1474628061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130625443 (GRCh38)
X:129759417 (GRCh37)
Canonical SPDI:: NC_000023.11:130625442:G:A
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130625443G>A, NC_000023.10:g.129759417G>A, NG_012562.2:g.282792C>T, NM_006375.4:c.1617C>T, NM_006375.3:c.1617C>T, NM_006375.2:c.1617C>T, NM_182314.3:c.1704C>T, NM_182314.2:c.1704C>T, NM_182314.1:c.1704C>T, NM_001281736.2:c.1617C>T, NM_001281736.1:c.1617C>T, NM_001382516.1:c.1704C>T, NM_001382518.1:c.1893C>T, NM_001382519.1:c.1698C>T, NM_001382522.1:c.1611C>T, NM_001382517.1:c.1704C>T, NM_001382520.1:c.1698C>T, NM_001382521.1:c.1611C>T, XM_011531245.3:c.1887C>T, XM_011531245.2:c.1887C>T, XM_011531245.1:c.1887C>T, XM_011531249.3:c.1704C>T, XM_011531249.2:c.1704C>T, XM_011531249.1:c.1704C>T, XM_047441771.1:c.1617C>T, XM_047441770.1:c.1617C>T, XM_047441767.1:c.1704C>T, XM_047441768.1:c.1698C>T, XM_047441769.1:c.1617C>T, XM_047441766.1:c.1821C>T, XM_047441773.1:c.1617C>T, XM_047441772.1:c.1617C>T

Select item 14741577775.

rs1474157777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:130688958 (GRCh38)
X:129822932 (GRCh37)
Canonical SPDI:: NC_000023.11:130688957:C:G
Gene:: ENOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130688958C>G, NC_000023.10:g.129822932C>G, NG_012562.2:g.219277G>C, NM_006375.4:c.158G>C, NM_006375.3:c.158G>C, NM_006375.2:c.158G>C, NM_182314.3:c.245G>C, NM_182314.2:c.245G>C, NM_182314.1:c.245G>C, NM_001281736.2:c.158G>C, NM_001281736.1:c.158G>C, NM_001382516.1:c.245G>C, NM_001382518.1:c.434G>C, NM_001382519.1:c.245G>C, NM_001382522.1:c.158G>C, NM_001382517.1:c.245G>C, NM_001382520.1:c.245G>C, NM_001382521.1:c.158G>C, XM_011531245.3:c.434G>C, XM_011531245.2:c.434G>C, XM_011531245.1:c.434G>C, XM_011531249.3:c.245G>C, XM_011531249.2:c.245G>C, XM_011531249.1:c.245G>C, XM_047441771.1:c.158G>C, XM_047441770.1:c.158G>C, XM_047441767.1:c.245G>C, XM_047441768.1:c.245G>C, XM_047441769.1:c.158G>C, XM_047441766.1:c.362G>C, XM_047441773.1:c.158G>C, XM_047441772.1:c.158G>C, NP_006366.2:p.Gly53Ala, NP_872114.1:p.Gly82Ala, NP_001268665.1:p.Gly53Ala, NP_001369445.1:p.Gly82Ala, NP_001369447.1:p.Gly145Ala, NP_001369448.1:p.Gly82Ala, NP_001369451.1:p.Gly53Ala, NP_001369446.1:p.Gly82Ala, NP_001369449.1:p.Gly82Ala, NP_001369450.1:p.Gly53Ala, XP_011529547.1:p.Gly145Ala, XP_011529551.1:p.Gly82Ala, XP_047297727.1:p.Gly53Ala, XP_047297726.1:p.Gly53Ala, XP_047297723.1:p.Gly82Ala, XP_047297724.1:p.Gly82Ala, XP_047297725.1:p.Gly53Ala, XP_047297722.1:p.Gly121Ala, XP_047297729.1:p.Gly53Ala, XP_047297728.1:p.Gly53Ala

Select item 14730961366.

rs1473096136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:130679726 (GRCh38)
X:129813700 (GRCh37)
Canonical SPDI:: NC_000023.11:130679725:T:G
Gene:: ENOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130679726T>G, NC_000023.10:g.129813700T>G, NG_012562.2:g.228509A>C, NM_006375.4:c.276A>C, NM_006375.3:c.276A>C, NM_006375.2:c.276A>C, NM_182314.3:c.363A>C, NM_182314.2:c.363A>C, NM_182314.1:c.363A>C, NM_001281736.2:c.276A>C, NM_001281736.1:c.276A>C, NM_001382516.1:c.363A>C, NM_001382518.1:c.552A>C, NM_001382519.1:c.363A>C, NM_001382522.1:c.276A>C, NM_001382517.1:c.363A>C, NM_001382520.1:c.363A>C, NM_001382521.1:c.276A>C, XM_011531245.3:c.552A>C, XM_011531245.2:c.552A>C, XM_011531245.1:c.552A>C, XM_011531249.3:c.363A>C, XM_011531249.2:c.363A>C, XM_011531249.1:c.363A>C, XM_047441771.1:c.276A>C, XM_047441770.1:c.276A>C, XM_047441767.1:c.363A>C, XM_047441768.1:c.363A>C, XM_047441769.1:c.276A>C, XM_047441766.1:c.480A>C, XM_047441773.1:c.276A>C, XM_047441772.1:c.276A>C

Select item 14730876327.

rs1473087632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130670113 (GRCh38)
X:129804087 (GRCh37)
Canonical SPDI:: NC_000023.11:130670112:C:T
Gene:: ENOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130670113C>T, NC_000023.10:g.129804087C>T, NG_012562.2:g.238122G>A, NM_006375.4:c.546G>A, NM_006375.3:c.546G>A, NM_006375.2:c.546G>A, NM_182314.3:c.633G>A, NM_182314.2:c.633G>A, NM_182314.1:c.633G>A, NM_001281736.2:c.546G>A, NM_001281736.1:c.546G>A, NM_001382516.1:c.633G>A, NM_001382518.1:c.822G>A, NM_001382519.1:c.633G>A, NM_001382522.1:c.546G>A, NM_001382517.1:c.633G>A, NM_001382520.1:c.633G>A, NM_001382521.1:c.546G>A, XM_011531245.3:c.822G>A, XM_011531245.2:c.822G>A, XM_011531245.1:c.822G>A, XM_011531249.3:c.633G>A, XM_011531249.2:c.633G>A, XM_011531249.1:c.633G>A, XM_047441771.1:c.546G>A, XM_047441770.1:c.546G>A, XM_047441767.1:c.633G>A, XM_047441768.1:c.633G>A, XM_047441769.1:c.546G>A, XM_047441766.1:c.750G>A, XM_047441773.1:c.546G>A, XM_047441772.1:c.546G>A

Select item 14721115508.

rs1472111550 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:130688895 (GRCh38)
X:129822869 (GRCh37)
Canonical SPDI:: NC_000023.11:130688893:ACA:A
Gene:: ENOX2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000023.11:g.130688895_130688896del, NC_000023.10:g.129822869_129822870del, NG_012562.2:g.219340_219341del, NM_006375.4:c.221_222del, NM_006375.3:c.221_222del, NM_006375.2:c.221_222del, NM_182314.3:c.308_309del, NM_182314.2:c.308_309del, NM_182314.1:c.308_309del, NM_001281736.2:c.221_222del, NM_001281736.1:c.221_222del, NM_001382516.1:c.308_309del, NM_001382518.1:c.497_498del, NM_001382519.1:c.308_309del, NM_001382522.1:c.221_222del, NM_001382517.1:c.308_309del, NM_001382520.1:c.308_309del, NM_001382521.1:c.221_222del, XM_011531245.3:c.497_498del, XM_011531245.2:c.497_498del, XM_011531245.1:c.497_498del, XM_011531249.3:c.308_309del, XM_011531249.2:c.308_309del, XM_011531249.1:c.308_309del, XM_047441771.1:c.221_222del, XM_047441770.1:c.221_222del, XM_047441767.1:c.308_309del, XM_047441768.1:c.308_309del, XM_047441769.1:c.221_222del, XM_047441766.1:c.425_426del, XM_047441773.1:c.221_222del, XM_047441772.1:c.221_222del, NP_006366.2:p.His73_Cys74insTer, NP_872114.1:p.His102_Cys103insTer, NP_001268665.1:p.His73_Cys74insTer, NP_001369445.1:p.His102_Cys103insTer, NP_001369447.1:p.His165_Cys166insTer, NP_001369448.1:p.His102_Cys103insTer, NP_001369451.1:p.His73_Cys74insTer, NP_001369446.1:p.His102_Cys103insTer, NP_001369449.1:p.His102_Cys103insTer, NP_001369450.1:p.His73_Cys74insTer, XP_011529547.1:p.His165_Cys166insTer, XP_011529551.1:p.His102_Cys103insTer, XP_047297727.1:p.His73_Cys74insTer, XP_047297726.1:p.His73_Cys74insTer, XP_047297723.1:p.His102_Cys103insTer, XP_047297724.1:p.His102_Cys103insTer, XP_047297725.1:p.His73_Cys74insTer, XP_047297722.1:p.His141_Cys142insTer, XP_047297729.1:p.His73_Cys74insTer, XP_047297728.1:p.His73_Cys74insTer

Select item 14687327429.

rs1468732742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130679542 (GRCh38)
X:129813516 (GRCh37)
Canonical SPDI:: NC_000023.11:130679541:C:T
Gene:: ENOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130679542C>T, NC_000023.10:g.129813516C>T, NG_012562.2:g.228693G>A, NM_006375.4:c.460G>A, NM_006375.3:c.460G>A, NM_006375.2:c.460G>A, NM_182314.3:c.547G>A, NM_182314.2:c.547G>A, NM_182314.1:c.547G>A, NM_001281736.2:c.460G>A, NM_001281736.1:c.460G>A, NM_001382516.1:c.547G>A, NM_001382518.1:c.736G>A, NM_001382519.1:c.547G>A, NM_001382522.1:c.460G>A, NM_001382517.1:c.547G>A, NM_001382520.1:c.547G>A, NM_001382521.1:c.460G>A, XM_011531245.3:c.736G>A, XM_011531245.2:c.736G>A, XM_011531245.1:c.736G>A, XM_011531249.3:c.547G>A, XM_011531249.2:c.547G>A, XM_011531249.1:c.547G>A, XM_047441771.1:c.460G>A, XM_047441770.1:c.460G>A, XM_047441767.1:c.547G>A, XM_047441768.1:c.547G>A, XM_047441769.1:c.460G>A, XM_047441766.1:c.664G>A, XM_047441773.1:c.460G>A, XM_047441772.1:c.460G>A, NP_006366.2:p.Gly154Ser, NP_872114.1:p.Gly183Ser, NP_001268665.1:p.Gly154Ser, NP_001369445.1:p.Gly183Ser, NP_001369447.1:p.Gly246Ser, NP_001369448.1:p.Gly183Ser, NP_001369451.1:p.Gly154Ser, NP_001369446.1:p.Gly183Ser, NP_001369449.1:p.Gly183Ser, NP_001369450.1:p.Gly154Ser, XP_011529547.1:p.Gly246Ser, XP_011529551.1:p.Gly183Ser, XP_047297727.1:p.Gly154Ser, XP_047297726.1:p.Gly154Ser, XP_047297723.1:p.Gly183Ser, XP_047297724.1:p.Gly183Ser, XP_047297725.1:p.Gly154Ser, XP_047297722.1:p.Gly222Ser, XP_047297729.1:p.Gly154Ser, XP_047297728.1:p.Gly154Ser

Select item 146807698610.

rs1468076986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:130665711 (GRCh38)
X:129799685 (GRCh37)
Canonical SPDI:: NC_000023.11:130665710:G:T
Gene:: ENOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130665711G>T, NC_000023.10:g.129799685G>T, NG_012562.2:g.242524C>A, NM_006375.4:c.946C>A, NM_006375.3:c.946C>A, NM_006375.2:c.946C>A, NM_182314.3:c.1033C>A, NM_182314.2:c.1033C>A, NM_182314.1:c.1033C>A, NM_001281736.2:c.946C>A, NM_001281736.1:c.946C>A, NM_001382516.1:c.1033C>A, NM_001382518.1:c.1222C>A, NM_001382519.1:c.1033C>A, NM_001382522.1:c.946C>A, NM_001382517.1:c.1033C>A, NM_001382520.1:c.1033C>A, NM_001382521.1:c.946C>A, XM_011531245.3:c.1222C>A, XM_011531245.2:c.1222C>A, XM_011531245.1:c.1222C>A, XM_011531249.3:c.1033C>A, XM_011531249.2:c.1033C>A, XM_011531249.1:c.1033C>A, XM_047441771.1:c.946C>A, XM_047441770.1:c.946C>A, XM_047441767.1:c.1033C>A, XM_047441768.1:c.1033C>A, XM_047441769.1:c.946C>A, XM_047441766.1:c.1150C>A, XM_047441773.1:c.946C>A, XM_047441772.1:c.946C>A, NP_006366.2:p.Gln316Lys, NP_872114.1:p.Gln345Lys, NP_001268665.1:p.Gln316Lys, NP_001369445.1:p.Gln345Lys, NP_001369447.1:p.Gln408Lys, NP_001369448.1:p.Gln345Lys, NP_001369451.1:p.Gln316Lys, NP_001369446.1:p.Gln345Lys, NP_001369449.1:p.Gln345Lys, NP_001369450.1:p.Gln316Lys, XP_011529547.1:p.Gln408Lys, XP_011529551.1:p.Gln345Lys, XP_047297727.1:p.Gln316Lys, XP_047297726.1:p.Gln316Lys, XP_047297723.1:p.Gln345Lys, XP_047297724.1:p.Gln345Lys, XP_047297725.1:p.Gln316Lys, XP_047297722.1:p.Gln384Lys, XP_047297729.1:p.Gln316Lys, XP_047297728.1:p.Gln316Lys

Select item 146735453711.

rs1467354537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130634990 (GRCh38)
X:129768964 (GRCh37)
Canonical SPDI:: NC_000023.11:130634989:T:C
Gene:: ENOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130634990T>C, NC_000023.10:g.129768964T>C, NG_012562.2:g.273245A>G, NM_006375.4:c.1413A>G, NM_006375.3:c.1413A>G, NM_006375.2:c.1413A>G, NM_182314.3:c.1500A>G, NM_182314.2:c.1500A>G, NM_182314.1:c.1500A>G, NM_001281736.2:c.1413A>G, NM_001281736.1:c.1413A>G, NM_001382516.1:c.1500A>G, NM_001382518.1:c.1689A>G, NM_001382519.1:c.1494A>G, NM_001382522.1:c.1407A>G, NM_001382517.1:c.1500A>G, NM_001382520.1:c.1494A>G, NM_001382521.1:c.1407A>G, XM_011531245.3:c.1683A>G, XM_011531245.2:c.1683A>G, XM_011531245.1:c.1683A>G, XM_011531249.3:c.1500A>G, XM_011531249.2:c.1500A>G, XM_011531249.1:c.1500A>G, XM_047441771.1:c.1413A>G, XM_047441770.1:c.1413A>G, XM_047441767.1:c.1500A>G, XM_047441768.1:c.1494A>G, XM_047441769.1:c.1413A>G, XM_047441766.1:c.1617A>G, XM_047441773.1:c.1413A>G, XM_047441772.1:c.1413A>G

Select item 146678044012.

rs1466780440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130669983 (GRCh38)
X:129803957 (GRCh37)
Canonical SPDI:: NC_000023.11:130669982:C:T
Gene:: ENOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.130669983C>T, NC_000023.10:g.129803957C>T, NG_012562.2:g.238252G>A, NM_006375.4:c.676G>A, NM_006375.3:c.676G>A, NM_006375.2:c.676G>A, NM_182314.3:c.763G>A, NM_182314.2:c.763G>A, NM_182314.1:c.763G>A, NM_001281736.2:c.676G>A, NM_001281736.1:c.676G>A, NM_001382516.1:c.763G>A, NM_001382518.1:c.952G>A, NM_001382519.1:c.763G>A, NM_001382522.1:c.676G>A, NM_001382517.1:c.763G>A, NM_001382520.1:c.763G>A, NM_001382521.1:c.676G>A, XM_011531245.3:c.952G>A, XM_011531245.2:c.952G>A, XM_011531245.1:c.952G>A, XM_011531249.3:c.763G>A, XM_011531249.2:c.763G>A, XM_011531249.1:c.763G>A, XM_047441771.1:c.676G>A, XM_047441770.1:c.676G>A, XM_047441767.1:c.763G>A, XM_047441768.1:c.763G>A, XM_047441769.1:c.676G>A, XM_047441766.1:c.880G>A, XM_047441773.1:c.676G>A, XM_047441772.1:c.676G>A, NP_006366.2:p.Val226Ile, NP_872114.1:p.Val255Ile, NP_001268665.1:p.Val226Ile, NP_001369445.1:p.Val255Ile, NP_001369447.1:p.Val318Ile, NP_001369448.1:p.Val255Ile, NP_001369451.1:p.Val226Ile, NP_001369446.1:p.Val255Ile, NP_001369449.1:p.Val255Ile, NP_001369450.1:p.Val226Ile, XP_011529547.1:p.Val318Ile, XP_011529551.1:p.Val255Ile, XP_047297727.1:p.Val226Ile, XP_047297726.1:p.Val226Ile, XP_047297723.1:p.Val255Ile, XP_047297724.1:p.Val255Ile, XP_047297725.1:p.Val226Ile, XP_047297722.1:p.Val294Ile, XP_047297729.1:p.Val226Ile, XP_047297728.1:p.Val226Ile

Select item 146329448113.

rs1463294481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130679552 (GRCh38)
X:129813526 (GRCh37)
Canonical SPDI:: NC_000023.11:130679551:C:T
Gene:: ENOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130679552C>T, NC_000023.10:g.129813526C>T, NG_012562.2:g.228683G>A, NM_006375.4:c.450G>A, NM_006375.3:c.450G>A, NM_006375.2:c.450G>A, NM_182314.3:c.537G>A, NM_182314.2:c.537G>A, NM_182314.1:c.537G>A, NM_001281736.2:c.450G>A, NM_001281736.1:c.450G>A, NM_001382516.1:c.537G>A, NM_001382518.1:c.726G>A, NM_001382519.1:c.537G>A, NM_001382522.1:c.450G>A, NM_001382517.1:c.537G>A, NM_001382520.1:c.537G>A, NM_001382521.1:c.450G>A, XM_011531245.3:c.726G>A, XM_011531245.2:c.726G>A, XM_011531245.1:c.726G>A, XM_011531249.3:c.537G>A, XM_011531249.2:c.537G>A, XM_011531249.1:c.537G>A, XM_047441771.1:c.450G>A, XM_047441770.1:c.450G>A, XM_047441767.1:c.537G>A, XM_047441768.1:c.537G>A, XM_047441769.1:c.450G>A, XM_047441766.1:c.654G>A, XM_047441773.1:c.450G>A, XM_047441772.1:c.450G>A

Select item 146308069414.

rs1463080694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130667531 (GRCh38)
X:129801505 (GRCh37)
Canonical SPDI:: NC_000023.11:130667530:T:C
Gene:: ENOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130667531T>C, NC_000023.10:g.129801505T>C, NG_012562.2:g.240704A>G, NM_006375.4:c.906A>G, NM_006375.3:c.906A>G, NM_006375.2:c.906A>G, NM_182314.3:c.993A>G, NM_182314.2:c.993A>G, NM_182314.1:c.993A>G, NM_001281736.2:c.906A>G, NM_001281736.1:c.906A>G, NM_001382516.1:c.993A>G, NM_001382518.1:c.1182A>G, NM_001382519.1:c.993A>G, NM_001382522.1:c.906A>G, NM_001382517.1:c.993A>G, NM_001382520.1:c.993A>G, NM_001382521.1:c.906A>G, XM_011531245.3:c.1182A>G, XM_011531245.2:c.1182A>G, XM_011531245.1:c.1182A>G, XM_011531249.3:c.993A>G, XM_011531249.2:c.993A>G, XM_011531249.1:c.993A>G, XM_047441771.1:c.906A>G, XM_047441770.1:c.906A>G, XM_047441767.1:c.993A>G, XM_047441768.1:c.993A>G, XM_047441769.1:c.906A>G, XM_047441766.1:c.1110A>G, XM_047441773.1:c.906A>G, XM_047441772.1:c.906A>G

Select item 145109444715.

rs1451094447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130688884 (GRCh38)
X:129822858 (GRCh37)
Canonical SPDI:: NC_000023.11:130688883:T:C
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.130688884T>C, NC_000023.10:g.129822858T>C, NG_012562.2:g.219351A>G, NM_006375.4:c.232A>G, NM_006375.3:c.232A>G, NM_006375.2:c.232A>G, NM_182314.3:c.319A>G, NM_182314.2:c.319A>G, NM_182314.1:c.319A>G, NM_001281736.2:c.232A>G, NM_001281736.1:c.232A>G, NM_001382516.1:c.319A>G, NM_001382518.1:c.508A>G, NM_001382519.1:c.319A>G, NM_001382522.1:c.232A>G, NM_001382517.1:c.319A>G, NM_001382520.1:c.319A>G, NM_001382521.1:c.232A>G, XM_011531245.3:c.508A>G, XM_011531245.2:c.508A>G, XM_011531245.1:c.508A>G, XM_011531249.3:c.319A>G, XM_011531249.2:c.319A>G, XM_011531249.1:c.319A>G, XM_047441771.1:c.232A>G, XM_047441770.1:c.232A>G, XM_047441767.1:c.319A>G, XM_047441768.1:c.319A>G, XM_047441769.1:c.232A>G, XM_047441766.1:c.436A>G, XM_047441773.1:c.232A>G, XM_047441772.1:c.232A>G, NP_006366.2:p.Thr78Ala, NP_872114.1:p.Thr107Ala, NP_001268665.1:p.Thr78Ala, NP_001369445.1:p.Thr107Ala, NP_001369447.1:p.Thr170Ala, NP_001369448.1:p.Thr107Ala, NP_001369451.1:p.Thr78Ala, NP_001369446.1:p.Thr107Ala, NP_001369449.1:p.Thr107Ala, NP_001369450.1:p.Thr78Ala, XP_011529547.1:p.Thr170Ala, XP_011529551.1:p.Thr107Ala, XP_047297727.1:p.Thr78Ala, XP_047297726.1:p.Thr78Ala, XP_047297723.1:p.Thr107Ala, XP_047297724.1:p.Thr107Ala, XP_047297725.1:p.Thr78Ala, XP_047297722.1:p.Thr146Ala, XP_047297729.1:p.Thr78Ala, XP_047297728.1:p.Thr78Ala

Select item 145072903616.

rs1450729036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:130656602 (GRCh38)
X:129790576 (GRCh37)
Canonical SPDI:: NC_000023.11:130656601:T:G
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.130656602T>G, NC_000023.10:g.129790576T>G, NG_012562.2:g.251633A>C, NM_006375.4:c.1108A>C, NM_006375.3:c.1108A>C, NM_006375.2:c.1108A>C, NM_182314.3:c.1195A>C, NM_182314.2:c.1195A>C, NM_182314.1:c.1195A>C, NM_001281736.2:c.1108A>C, NM_001281736.1:c.1108A>C, NM_001382516.1:c.1195A>C, NM_001382518.1:c.1384A>C, NM_001382519.1:c.1195A>C, NM_001382522.1:c.1108A>C, NM_001382517.1:c.1195A>C, NM_001382520.1:c.1195A>C, NM_001382521.1:c.1108A>C, XM_011531245.3:c.1384A>C, XM_011531245.2:c.1384A>C, XM_011531245.1:c.1384A>C, XM_011531249.3:c.1195A>C, XM_011531249.2:c.1195A>C, XM_011531249.1:c.1195A>C, XM_047441771.1:c.1108A>C, XM_047441770.1:c.1108A>C, XM_047441767.1:c.1195A>C, XM_047441768.1:c.1195A>C, XM_047441769.1:c.1108A>C, XM_047441766.1:c.1312A>C, XM_047441773.1:c.1108A>C, XM_047441772.1:c.1108A>C, NP_006366.2:p.Thr370Pro, NP_872114.1:p.Thr399Pro, NP_001268665.1:p.Thr370Pro, NP_001369445.1:p.Thr399Pro, NP_001369447.1:p.Thr462Pro, NP_001369448.1:p.Thr399Pro, NP_001369451.1:p.Thr370Pro, NP_001369446.1:p.Thr399Pro, NP_001369449.1:p.Thr399Pro, NP_001369450.1:p.Thr370Pro, XP_011529547.1:p.Thr462Pro, XP_011529551.1:p.Thr399Pro, XP_047297727.1:p.Thr370Pro, XP_047297726.1:p.Thr370Pro, XP_047297723.1:p.Thr399Pro, XP_047297724.1:p.Thr399Pro, XP_047297725.1:p.Thr370Pro, XP_047297722.1:p.Thr438Pro, XP_047297729.1:p.Thr370Pro, XP_047297728.1:p.Thr370Pro

Select item 145020446617.

rs1450204466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130631516 (GRCh38)
X:129765490 (GRCh37)
Canonical SPDI:: NC_000023.11:130631515:T:C
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130631516T>C, NC_000023.10:g.129765490T>C, NG_012562.2:g.276719A>G, NM_006375.4:c.1480A>G, NM_006375.3:c.1480A>G, NM_006375.2:c.1480A>G, NM_182314.3:c.1567A>G, NM_182314.2:c.1567A>G, NM_182314.1:c.1567A>G, NM_001281736.2:c.1480A>G, NM_001281736.1:c.1480A>G, NM_001382516.1:c.1567A>G, NM_001382518.1:c.1756A>G, NM_001382519.1:c.1561A>G, NM_001382522.1:c.1474A>G, NM_001382517.1:c.1567A>G, NM_001382520.1:c.1561A>G, NM_001382521.1:c.1474A>G, XM_011531245.3:c.1750A>G, XM_011531245.2:c.1750A>G, XM_011531245.1:c.1750A>G, XM_011531249.3:c.1567A>G, XM_011531249.2:c.1567A>G, XM_011531249.1:c.1567A>G, XM_047441771.1:c.1480A>G, XM_047441770.1:c.1480A>G, XM_047441767.1:c.1567A>G, XM_047441768.1:c.1561A>G, XM_047441769.1:c.1480A>G, XM_047441766.1:c.1684A>G, XM_047441773.1:c.1480A>G, XM_047441772.1:c.1480A>G, NP_006366.2:p.Thr494Ala, NP_872114.1:p.Thr523Ala, NP_001268665.1:p.Thr494Ala, NP_001369445.1:p.Thr523Ala, NP_001369447.1:p.Thr586Ala, NP_001369448.1:p.Thr521Ala, NP_001369451.1:p.Thr492Ala, NP_001369446.1:p.Thr523Ala, NP_001369449.1:p.Thr521Ala, NP_001369450.1:p.Thr492Ala, XP_011529547.1:p.Thr584Ala, XP_011529551.1:p.Thr523Ala, XP_047297727.1:p.Thr494Ala, XP_047297726.1:p.Thr494Ala, XP_047297723.1:p.Thr523Ala, XP_047297724.1:p.Thr521Ala, XP_047297725.1:p.Thr494Ala, XP_047297722.1:p.Thr562Ala, XP_047297729.1:p.Thr494Ala, XP_047297728.1:p.Thr494Ala

Select item 144887753218.

rs1448877532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:130667663 (GRCh38)
X:129801637 (GRCh37)
Canonical SPDI:: NC_000023.11:130667662:A:G
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.130667663A>G, NC_000023.10:g.129801637A>G, NG_012562.2:g.240572T>C, NM_006375.4:c.774T>C, NM_006375.3:c.774T>C, NM_006375.2:c.774T>C, NM_182314.3:c.861T>C, NM_182314.2:c.861T>C, NM_182314.1:c.861T>C, NM_001281736.2:c.774T>C, NM_001281736.1:c.774T>C, NM_001382516.1:c.861T>C, NM_001382518.1:c.1050T>C, NM_001382519.1:c.861T>C, NM_001382522.1:c.774T>C, NM_001382517.1:c.861T>C, NM_001382520.1:c.861T>C, NM_001382521.1:c.774T>C, XM_011531245.3:c.1050T>C, XM_011531245.2:c.1050T>C, XM_011531245.1:c.1050T>C, XM_011531249.3:c.861T>C, XM_011531249.2:c.861T>C, XM_011531249.1:c.861T>C, XM_047441771.1:c.774T>C, XM_047441770.1:c.774T>C, XM_047441767.1:c.861T>C, XM_047441768.1:c.861T>C, XM_047441769.1:c.774T>C, XM_047441766.1:c.978T>C, XM_047441773.1:c.774T>C, XM_047441772.1:c.774T>C

Select item 144816333419.

rs1448163334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130679704 (GRCh38)
X:129813678 (GRCh37)
Canonical SPDI:: NC_000023.11:130679703:T:C
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130679704T>C, NC_000023.10:g.129813678T>C, NG_012562.2:g.228531A>G, NM_006375.4:c.298A>G, NM_006375.3:c.298A>G, NM_006375.2:c.298A>G, NM_182314.3:c.385A>G, NM_182314.2:c.385A>G, NM_182314.1:c.385A>G, NM_001281736.2:c.298A>G, NM_001281736.1:c.298A>G, NM_001382516.1:c.385A>G, NM_001382518.1:c.574A>G, NM_001382519.1:c.385A>G, NM_001382522.1:c.298A>G, NM_001382517.1:c.385A>G, NM_001382520.1:c.385A>G, NM_001382521.1:c.298A>G, XM_011531245.3:c.574A>G, XM_011531245.2:c.574A>G, XM_011531245.1:c.574A>G, XM_011531249.3:c.385A>G, XM_011531249.2:c.385A>G, XM_011531249.1:c.385A>G, XM_047441771.1:c.298A>G, XM_047441770.1:c.298A>G, XM_047441767.1:c.385A>G, XM_047441768.1:c.385A>G, XM_047441769.1:c.298A>G, XM_047441766.1:c.502A>G, XM_047441773.1:c.298A>G, XM_047441772.1:c.298A>G, NP_006366.2:p.Thr100Ala, NP_872114.1:p.Thr129Ala, NP_001268665.1:p.Thr100Ala, NP_001369445.1:p.Thr129Ala, NP_001369447.1:p.Thr192Ala, NP_001369448.1:p.Thr129Ala, NP_001369451.1:p.Thr100Ala, NP_001369446.1:p.Thr129Ala, NP_001369449.1:p.Thr129Ala, NP_001369450.1:p.Thr100Ala, XP_011529547.1:p.Thr192Ala, XP_011529551.1:p.Thr129Ala, XP_047297727.1:p.Thr100Ala, XP_047297726.1:p.Thr100Ala, XP_047297723.1:p.Thr129Ala, XP_047297724.1:p.Thr129Ala, XP_047297725.1:p.Thr100Ala, XP_047297722.1:p.Thr168Ala, XP_047297729.1:p.Thr100Ala, XP_047297728.1:p.Thr100Ala

Select item 144680481220.

rs1446804812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130667677 (GRCh38)
X:129801651 (GRCh37)
Canonical SPDI:: NC_000023.11:130667676:G:A
Gene:: ENOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130667677G>A, NC_000023.10:g.129801651G>A, NG_012562.2:g.240558C>T, NM_006375.4:c.760C>T, NM_006375.3:c.760C>T, NM_006375.2:c.760C>T, NM_182314.3:c.847C>T, NM_182314.2:c.847C>T, NM_182314.1:c.847C>T, NM_001281736.2:c.760C>T, NM_001281736.1:c.760C>T, NM_001382516.1:c.847C>T, NM_001382518.1:c.1036C>T, NM_001382519.1:c.847C>T, NM_001382522.1:c.760C>T, NM_001382517.1:c.847C>T, NM_001382520.1:c.847C>T, NM_001382521.1:c.760C>T, XM_011531245.3:c.1036C>T, XM_011531245.2:c.1036C>T, XM_011531245.1:c.1036C>T, XM_011531249.3:c.847C>T, XM_011531249.2:c.847C>T, XM_011531249.1:c.847C>T, XM_047441771.1:c.760C>T, XM_047441770.1:c.760C>T, XM_047441767.1:c.847C>T, XM_047441768.1:c.847C>T, XM_047441769.1:c.760C>T, XM_047441766.1:c.964C>T, XM_047441773.1:c.760C>T, XM_047441772.1:c.760C>T, NP_006366.2:p.Arg254Cys, NP_872114.1:p.Arg283Cys, NP_001268665.1:p.Arg254Cys, NP_001369445.1:p.Arg283Cys, NP_001369447.1:p.Arg346Cys, NP_001369448.1:p.Arg283Cys, NP_001369451.1:p.Arg254Cys, NP_001369446.1:p.Arg283Cys, NP_001369449.1:p.Arg283Cys, NP_001369450.1:p.Arg254Cys, XP_011529547.1:p.Arg346Cys, XP_011529551.1:p.Arg283Cys, XP_047297727.1:p.Arg254Cys, XP_047297726.1:p.Arg254Cys, XP_047297723.1:p.Arg283Cys, XP_047297724.1:p.Arg283Cys, XP_047297725.1:p.Arg254Cys, XP_047297722.1:p.Arg322Cys, XP_047297729.1:p.Arg254Cys, XP_047297728.1:p.Arg254Cys

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