SNP Links for Protein (Select 767940232) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 356

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Select item 14907920021.

rs1490792002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46080135 (GRCh38)
6:46047872 (GRCh37)
Canonical SPDI:: NC_000006.12:46080134:G:A
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46080135G>A, NC_000006.11:g.46047872G>A, NG_031965.1:g.5214C>T, NM_001114086.2:c.108C>T, NM_001114086.1:c.108C>T, NM_001370650.1:c.108C>T, XR_926258.4:n.214C>T, XR_926258.3:n.221C>T, XR_926258.2:n.214C>T, XR_926258.1:n.153C>T, XM_011514692.4:c.108C>T, XM_011514692.3:c.108C>T, XM_011514692.2:c.108C>T, XM_011514692.1:c.108C>T, XM_011514694.4:c.108C>T, XM_011514694.3:c.108C>T, XM_011514694.2:c.108C>T, XM_011514694.1:c.108C>T

Select item 14887545762.

rs1488754576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46079861 (GRCh38)
6:46047598 (GRCh37)
Canonical SPDI:: NC_000006.12:46079860:C:T
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46079861C>T, NC_000006.11:g.46047598C>T, NG_031965.1:g.5488G>A, NM_001114086.2:c.382G>A, NM_001114086.1:c.382G>A, NM_001370650.1:c.382G>A, XR_926258.4:n.488G>A, XR_926258.3:n.495G>A, XR_926258.2:n.488G>A, XR_926258.1:n.427G>A, XM_011514692.4:c.382G>A, XM_011514692.3:c.382G>A, XM_011514692.2:c.382G>A, XM_011514692.1:c.382G>A, XM_011514694.4:c.382G>A, XM_011514694.3:c.382G>A, XM_011514694.2:c.382G>A, XM_011514694.1:c.382G>A, NP_001107558.1:p.Gly128Arg, NP_001357579.1:p.Gly128Arg, XP_011512994.1:p.Gly128Arg, XP_011512996.1:p.Gly128Arg

Select item 14880666683.

rs1488066668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:45949269 (GRCh38)
6:45917006 (GRCh37)
Canonical SPDI:: NC_000006.12:45949268:A:G,NC_000006.12:45949268:A:T
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000048/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.45949269A>G, NC_000006.12:g.45949269A>T, NC_000006.11:g.45917006A>G, NC_000006.11:g.45917006A>T, NG_031965.1:g.136080T>C, NG_031965.1:g.136080T>A, NM_016929.5:c.286T>C, NM_016929.5:c.286T>A, NM_016929.4:c.286T>C, NM_016929.4:c.286T>A, NM_001114086.2:c.763T>C, NM_001114086.2:c.763T>A, NM_001114086.1:c.763T>C, NM_001114086.1:c.763T>A, NM_001256023.2:c.286T>C, NM_001256023.2:c.286T>A, NM_001256023.1:c.286T>C, NM_001256023.1:c.286T>A, NM_001370650.1:c.763T>C, NM_001370650.1:c.763T>A, NM_001370649.1:c.169T>C, NM_001370649.1:c.169T>A, XR_926258.4:n.869T>C, XR_926258.4:n.869T>A, XR_926258.3:n.876T>C, XR_926258.3:n.876T>A, XR_926258.2:n.869T>C, XR_926258.2:n.869T>A, XR_926258.1:n.808T>C, XR_926258.1:n.808T>A, XM_011514692.4:c.763T>C, XM_011514692.4:c.763T>A, XM_011514692.3:c.763T>C, XM_011514692.3:c.763T>A, XM_011514692.2:c.763T>C, XM_011514692.2:c.763T>A, XM_011514692.1:c.763T>C, XM_011514692.1:c.763T>A, XM_011514694.4:c.763T>C, XM_011514694.4:c.763T>A, XM_011514694.3:c.763T>C, XM_011514694.3:c.763T>A, XM_011514694.2:c.763T>C, XM_011514694.2:c.763T>A, XM_011514694.1:c.763T>C, XM_011514694.1:c.763T>A, XM_047418898.1:c.169T>C, XM_047418898.1:c.169T>A, XR_007059275.1:n.604T>C, XR_007059275.1:n.604T>A, XM_047418897.1:c.286T>C, XM_047418897.1:c.286T>A, XM_047418896.1:c.286T>C, XM_047418896.1:c.286T>A, NP_058625.2:p.Leu96Met, NP_001107558.1:p.Leu255Met, NP_001242952.1:p.Leu96Met, NP_001357579.1:p.Leu255Met, NP_001357578.1:p.Leu57Met, XP_011512994.1:p.Leu255Met, XP_011512996.1:p.Leu255Met, XP_047274854.1:p.Leu57Met, XP_047274853.1:p.Leu96Met, XP_047274852.1:p.Leu96Met

Select item 14859959794.

rs1485995979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:45955218 (GRCh38)
6:45922955 (GRCh37)
Canonical SPDI:: NC_000006.12:45955217:G:C
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.45955218G>C, NC_000006.11:g.45922955G>C, NG_031965.1:g.130131C>G, NM_016929.5:c.90C>G, NM_016929.4:c.90C>G, NM_001114086.2:c.567C>G, NM_001114086.1:c.567C>G, NM_001256023.2:c.90C>G, NM_001256023.1:c.90C>G, NM_001370650.1:c.567C>G, NM_001370649.1:c.-28C>G, XR_926258.4:n.673C>G, XR_926258.3:n.680C>G, XR_926258.2:n.673C>G, XR_926258.1:n.612C>G, XM_011514692.4:c.567C>G, XM_011514692.3:c.567C>G, XM_011514692.2:c.567C>G, XM_011514692.1:c.567C>G, XM_011514694.4:c.567C>G, XM_011514694.3:c.567C>G, XM_011514694.2:c.567C>G, XM_011514694.1:c.567C>G, XM_047418898.1:c.-28C>G, XR_007059275.1:n.408C>G, XM_047418897.1:c.90C>G, XM_047418896.1:c.90C>G

Select item 14844662125.

rs1484466212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46079990 (GRCh38)
6:46047727 (GRCh37)
Canonical SPDI:: NC_000006.12:46079989:C:T
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46079990C>T, NC_000006.11:g.46047727C>T, NG_031965.1:g.5359G>A, NM_001114086.2:c.253G>A, NM_001114086.1:c.253G>A, NM_001370650.1:c.253G>A, XR_926258.4:n.359G>A, XR_926258.3:n.366G>A, XR_926258.2:n.359G>A, XR_926258.1:n.298G>A, XM_011514692.4:c.253G>A, XM_011514692.3:c.253G>A, XM_011514692.2:c.253G>A, XM_011514692.1:c.253G>A, XM_011514694.4:c.253G>A, XM_011514694.3:c.253G>A, XM_011514694.2:c.253G>A, XM_011514694.1:c.253G>A, NP_001107558.1:p.Asp85Asn, NP_001357579.1:p.Asp85Asn, XP_011512994.1:p.Asp85Asn, XP_011512996.1:p.Asp85Asn

Select item 14842403196.

rs1484240319 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAACCTTC>- [Show Flanks]
Chromosome:: 6:46079754 (GRCh38)
6:46047491 (GRCh37)
Canonical SPDI:: NC_000006.12:46079749:CTTCCAAACCTTC:CTTC
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.46079754_46079762del, NC_000006.11:g.46047491_46047499del, NG_031965.1:g.5591_5599del, NM_001114086.2:c.485_493del, NM_001114086.1:c.485_493del, NM_001370650.1:c.485_493del, XR_926258.4:n.591_599del, XR_926258.3:n.598_606del, XR_926258.2:n.591_599del, XR_926258.1:n.530_538del, XM_011514692.4:c.485_493del, XM_011514692.3:c.485_493del, XM_011514692.2:c.485_493del, XM_011514692.1:c.485_493del, XM_011514694.4:c.485_493del, XM_011514694.3:c.485_493del, XM_011514694.2:c.485_493del, XM_011514694.1:c.485_493del, NP_001107558.1:p.Gly162_Glu164del, NP_001357579.1:p.Gly162_Glu164del, XP_011512994.1:p.Gly162_Glu164del, XP_011512996.1:p.Gly162_Glu164del

Select item 14840687687.

rs1484068768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46080094 (GRCh38)
6:46047831 (GRCh37)
Canonical SPDI:: NC_000006.12:46080093:T:C
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46080094T>C, NC_000006.11:g.46047831T>C, NG_031965.1:g.5255A>G, NM_001114086.2:c.149A>G, NM_001114086.1:c.149A>G, NM_001370650.1:c.149A>G, XR_926258.4:n.255A>G, XR_926258.3:n.262A>G, XR_926258.2:n.255A>G, XR_926258.1:n.194A>G, XM_011514692.4:c.149A>G, XM_011514692.3:c.149A>G, XM_011514692.2:c.149A>G, XM_011514692.1:c.149A>G, XM_011514694.4:c.149A>G, XM_011514694.3:c.149A>G, XM_011514694.2:c.149A>G, XM_011514694.1:c.149A>G, NP_001107558.1:p.Gln50Arg, NP_001357579.1:p.Gln50Arg, XP_011512994.1:p.Gln50Arg, XP_011512996.1:p.Gln50Arg

Select item 14825373648.

rs1482537364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:46079767 (GRCh38)
6:46047504 (GRCh37)
Canonical SPDI:: NC_000006.12:46079766:T:G
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46079767T>G, NC_000006.11:g.46047504T>G, NG_031965.1:g.5582A>C, NM_001114086.2:c.476A>C, NM_001114086.1:c.476A>C, NM_001370650.1:c.476A>C, XR_926258.4:n.582A>C, XR_926258.3:n.589A>C, XR_926258.2:n.582A>C, XR_926258.1:n.521A>C, XM_011514692.4:c.476A>C, XM_011514692.3:c.476A>C, XM_011514692.2:c.476A>C, XM_011514692.1:c.476A>C, XM_011514694.4:c.476A>C, XM_011514694.3:c.476A>C, XM_011514694.2:c.476A>C, XM_011514694.1:c.476A>C, NP_001107558.1:p.Asp159Ala, NP_001357579.1:p.Asp159Ala, XP_011512994.1:p.Asp159Ala, XP_011512996.1:p.Asp159Ala

Select item 14824169899.

rs1482416989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:46079875 (GRCh38)
6:46047612 (GRCh37)
Canonical SPDI:: NC_000006.12:46079874:T:C,NC_000006.12:46079874:T:G
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46079875T>C, NC_000006.12:g.46079875T>G, NC_000006.11:g.46047612T>C, NC_000006.11:g.46047612T>G, NG_031965.1:g.5474A>G, NG_031965.1:g.5474A>C, NM_001114086.2:c.368A>G, NM_001114086.2:c.368A>C, NM_001114086.1:c.368A>G, NM_001114086.1:c.368A>C, NM_001370650.1:c.368A>G, NM_001370650.1:c.368A>C, XR_926258.4:n.474A>G, XR_926258.4:n.474A>C, XR_926258.3:n.481A>G, XR_926258.3:n.481A>C, XR_926258.2:n.474A>G, XR_926258.2:n.474A>C, XR_926258.1:n.413A>G, XR_926258.1:n.413A>C, XM_011514692.4:c.368A>G, XM_011514692.4:c.368A>C, XM_011514692.3:c.368A>G, XM_011514692.3:c.368A>C, XM_011514692.2:c.368A>G, XM_011514692.2:c.368A>C, XM_011514692.1:c.368A>G, XM_011514692.1:c.368A>C, XM_011514694.4:c.368A>G, XM_011514694.4:c.368A>C, XM_011514694.3:c.368A>G, XM_011514694.3:c.368A>C, XM_011514694.2:c.368A>G, XM_011514694.2:c.368A>C, XM_011514694.1:c.368A>G, XM_011514694.1:c.368A>C, NP_001107558.1:p.Glu123Gly, NP_001107558.1:p.Glu123Ala, NP_001357579.1:p.Glu123Gly, NP_001357579.1:p.Glu123Ala, XP_011512994.1:p.Glu123Gly, XP_011512994.1:p.Glu123Ala, XP_011512996.1:p.Glu123Gly, XP_011512996.1:p.Glu123Ala

Select item 148222609310.

rs1482226093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:45914298 (GRCh38)
6:45882035 (GRCh37)
Canonical SPDI:: NC_000006.12:45914297:C:A,NC_000006.12:45914297:C:T
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (Korea1K)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.45914298C>A, NC_000006.12:g.45914298C>T, NC_000006.11:g.45882035C>A, NC_000006.11:g.45882035C>T, NG_031965.1:g.171051G>T, NG_031965.1:g.171051G>A, NM_016929.5:c.518G>T, NM_016929.5:c.518G>A, NM_016929.4:c.518G>T, NM_016929.4:c.518G>A, NM_001114086.2:c.995G>T, NM_001114086.2:c.995G>A, NM_001114086.1:c.995G>T, NM_001114086.1:c.995G>A, NM_001256023.2:c.518G>T, NM_001256023.2:c.518G>A, NM_001256023.1:c.518G>T, NM_001256023.1:c.518G>A, NM_001370650.1:c.995G>T, NM_001370650.1:c.995G>A, NR_045673.1:n.482G>T, NR_045673.1:n.482G>A, NM_001370649.1:c.401G>T, NM_001370649.1:c.401G>A, NR_045672.1:n.443G>T, NR_045672.1:n.443G>A, NR_045674.1:n.816G>T, NR_045674.1:n.816G>A, XR_926258.4:n.1101G>T, XR_926258.4:n.1101G>A, XR_926258.3:n.1108G>T, XR_926258.3:n.1108G>A, XR_926258.2:n.1101G>T, XR_926258.2:n.1101G>A, XR_926258.1:n.1040G>T, XR_926258.1:n.1040G>A, XM_011514692.4:c.995G>T, XM_011514692.4:c.995G>A, XM_011514692.3:c.995G>T, XM_011514692.3:c.995G>A, XM_011514692.2:c.995G>T, XM_011514692.2:c.995G>A, XM_011514692.1:c.995G>T, XM_011514692.1:c.995G>A, XM_011514694.4:c.*137G>T, XM_011514694.4:c.*137G>A, XM_011514694.3:c.*137G>T, XM_011514694.3:c.*137G>A, XM_011514694.2:c.*137G>T, XM_011514694.2:c.*137G>A, XM_011514694.1:c.*137G>T, XM_011514694.1:c.*137G>A, XM_047418898.1:c.401G>T, XM_047418898.1:c.401G>A, XR_007059275.1:n.836G>T, XR_007059275.1:n.836G>A, XM_047418897.1:c.518G>T, XM_047418897.1:c.518G>A, XM_047418896.1:c.518G>T, XM_047418896.1:c.518G>A, NP_058625.2:p.Arg173Leu, NP_058625.2:p.Arg173His, NP_001107558.1:p.Arg332Leu, NP_001107558.1:p.Arg332His, NP_001242952.1:p.Arg173Leu, NP_001242952.1:p.Arg173His, NP_001357579.1:p.Arg332Leu, NP_001357579.1:p.Arg332His, NP_001357578.1:p.Arg134Leu, NP_001357578.1:p.Arg134His, XP_011512994.1:p.Arg332Leu, XP_011512994.1:p.Arg332His, XP_047274854.1:p.Arg134Leu, XP_047274854.1:p.Arg134His, XP_047274853.1:p.Arg173Leu, XP_047274853.1:p.Arg173His, XP_047274852.1:p.Arg173Leu, XP_047274852.1:p.Arg173His

Select item 148121882911.

rs1481218829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:46080222 (GRCh38)
6:46047959 (GRCh37)
Canonical SPDI:: NC_000006.12:46080221:G:C,NC_000006.12:46080221:G:T
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46080222G>C, NC_000006.12:g.46080222G>T, NC_000006.11:g.46047959G>C, NC_000006.11:g.46047959G>T, NG_031965.1:g.5127C>G, NG_031965.1:g.5127C>A, NM_001114086.2:c.21C>G, NM_001114086.2:c.21C>A, NM_001114086.1:c.21C>G, NM_001114086.1:c.21C>A, NM_001370650.1:c.21C>G, NM_001370650.1:c.21C>A, XR_926258.4:n.127C>G, XR_926258.4:n.127C>A, XR_926258.3:n.134C>G, XR_926258.3:n.134C>A, XR_926258.2:n.127C>G, XR_926258.2:n.127C>A, XR_926258.1:n.66C>G, XR_926258.1:n.66C>A, XM_011514692.4:c.21C>G, XM_011514692.4:c.21C>A, XM_011514692.3:c.21C>G, XM_011514692.3:c.21C>A, XM_011514692.2:c.21C>G, XM_011514692.2:c.21C>A, XM_011514692.1:c.21C>G, XM_011514692.1:c.21C>A, XM_011514694.4:c.21C>G, XM_011514694.4:c.21C>A, XM_011514694.3:c.21C>G, XM_011514694.3:c.21C>A, XM_011514694.2:c.21C>G, XM_011514694.2:c.21C>A, XM_011514694.1:c.21C>G, XM_011514694.1:c.21C>A, NP_001107558.1:p.Ser7Arg, NP_001107558.1:p.Ser7Arg, NP_001357579.1:p.Ser7Arg, NP_001357579.1:p.Ser7Arg, XP_011512994.1:p.Ser7Arg, XP_011512994.1:p.Ser7Arg, XP_011512996.1:p.Ser7Arg, XP_011512996.1:p.Ser7Arg

Select item 147736716412.

rs1477367164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:46080204 (GRCh38)
6:46047941 (GRCh37)
Canonical SPDI:: NC_000006.12:46080203:G:C,NC_000006.12:46080203:G:T
Gene:: CLIC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46080204G>C, NC_000006.12:g.46080204G>T, NC_000006.11:g.46047941G>C, NC_000006.11:g.46047941G>T, NG_031965.1:g.5145C>G, NG_031965.1:g.5145C>A, NM_001114086.2:c.39C>G, NM_001114086.2:c.39C>A, NM_001114086.1:c.39C>G, NM_001114086.1:c.39C>A, NM_001370650.1:c.39C>G, NM_001370650.1:c.39C>A, XR_926258.4:n.145C>G, XR_926258.4:n.145C>A, XR_926258.3:n.152C>G, XR_926258.3:n.152C>A, XR_926258.2:n.145C>G, XR_926258.2:n.145C>A, XR_926258.1:n.84C>G, XR_926258.1:n.84C>A, XM_011514692.4:c.39C>G, XM_011514692.4:c.39C>A, XM_011514692.3:c.39C>G, XM_011514692.3:c.39C>A, XM_011514692.2:c.39C>G, XM_011514692.2:c.39C>A, XM_011514692.1:c.39C>G, XM_011514692.1:c.39C>A, XM_011514694.4:c.39C>G, XM_011514694.4:c.39C>A, XM_011514694.3:c.39C>G, XM_011514694.3:c.39C>A, XM_011514694.2:c.39C>G, XM_011514694.2:c.39C>A, XM_011514694.1:c.39C>G, XM_011514694.1:c.39C>A, NP_001107558.1:p.Ile13Met, NP_001357579.1:p.Ile13Met, XP_011512994.1:p.Ile13Met, XP_011512996.1:p.Ile13Met

Select item 147553794713.

rs1475537947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46080234 (GRCh38)
6:46047971 (GRCh37)
Canonical SPDI:: NC_000006.12:46080233:G:A
Gene:: CLIC5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.46080234G>A, NC_000006.11:g.46047971G>A, NG_031965.1:g.5115C>T, NM_001114086.2:c.9C>T, NM_001114086.1:c.9C>T, NM_001370650.1:c.9C>T, XR_926258.4:n.115C>T, XR_926258.3:n.122C>T, XR_926258.2:n.115C>T, XR_926258.1:n.54C>T, XM_011514692.4:c.9C>T, XM_011514692.3:c.9C>T, XM_011514692.2:c.9C>T, XM_011514692.1:c.9C>T, XM_011514694.4:c.9C>T, XM_011514694.3:c.9C>T, XM_011514694.2:c.9C>T, XM_011514694.1:c.9C>T

Select item 147030797614.

rs1470307976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46079818 (GRCh38)
6:46047555 (GRCh37)
Canonical SPDI:: NC_000006.12:46079817:G:A
Gene:: CLIC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_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_000006.12:g.46079818G>A, NC_000006.11:g.46047555G>A, NG_031965.1:g.5531C>T, NM_001114086.2:c.425C>T, NM_001114086.1:c.425C>T, NM_001370650.1:c.425C>T, XR_926258.4:n.531C>T, XR_926258.3:n.538C>T, XR_926258.2:n.531C>T, XR_926258.1:n.470C>T, XM_011514692.4:c.425C>T, XM_011514692.3:c.425C>T, XM_011514692.2:c.425C>T, XM_011514692.1:c.425C>T, XM_011514694.4:c.425C>T, XM_011514694.3:c.425C>T, XM_011514694.2:c.425C>T, XM_011514694.1:c.425C>T, NP_001107558.1:p.Thr142Ile, NP_001357579.1:p.Thr142Ile, XP_011512994.1:p.Thr142Ile, XP_011512996.1:p.Thr142Ile

Select item 146928331015.

rs1469283310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:46079788 (GRCh38)
6:46047525 (GRCh37)
Canonical SPDI:: NC_000006.12:46079787:G:T
Gene:: CLIC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46079788G>T, NC_000006.11:g.46047525G>T, NG_031965.1:g.5561C>A, NM_001114086.2:c.455C>A, NM_001114086.1:c.455C>A, NM_001370650.1:c.455C>A, XR_926258.4:n.561C>A, XR_926258.3:n.568C>A, XR_926258.2:n.561C>A, XR_926258.1:n.500C>A, XM_011514692.4:c.455C>A, XM_011514692.3:c.455C>A, XM_011514692.2:c.455C>A, XM_011514692.1:c.455C>A, XM_011514694.4:c.455C>A, XM_011514694.3:c.455C>A, XM_011514694.2:c.455C>A, XM_011514694.1:c.455C>A, NP_001107558.1:p.Thr152Asn, NP_001357579.1:p.Thr152Asn, XP_011512994.1:p.Thr152Asn, XP_011512996.1:p.Thr152Asn

Select item 146642542416.

rs1466425424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:45949272 (GRCh38)
6:45917009 (GRCh37)
Canonical SPDI:: NC_000006.12:45949271:T:C
Gene:: CLIC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.45949272T>C, NC_000006.11:g.45917009T>C, NG_031965.1:g.136077A>G, NM_016929.5:c.283A>G, NM_016929.4:c.283A>G, NM_001114086.2:c.760A>G, NM_001114086.1:c.760A>G, NM_001256023.2:c.283A>G, NM_001256023.1:c.283A>G, NM_001370650.1:c.760A>G, NM_001370649.1:c.166A>G, XR_926258.4:n.866A>G, XR_926258.3:n.873A>G, XR_926258.2:n.866A>G, XR_926258.1:n.805A>G, XM_011514692.4:c.760A>G, XM_011514692.3:c.760A>G, XM_011514692.2:c.760A>G, XM_011514692.1:c.760A>G, XM_011514694.4:c.760A>G, XM_011514694.3:c.760A>G, XM_011514694.2:c.760A>G, XM_011514694.1:c.760A>G, XM_047418898.1:c.166A>G, XR_007059275.1:n.601A>G, XM_047418897.1:c.283A>G, XM_047418896.1:c.283A>G, NP_058625.2:p.Thr95Ala, NP_001107558.1:p.Thr254Ala, NP_001242952.1:p.Thr95Ala, NP_001357579.1:p.Thr254Ala, NP_001357578.1:p.Thr56Ala, XP_011512994.1:p.Thr254Ala, XP_011512996.1:p.Thr254Ala, XP_047274854.1:p.Thr56Ala, XP_047274853.1:p.Thr95Ala, XP_047274852.1:p.Thr95Ala

Select item 146619913317.

rs1466199133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:45913800 (GRCh38)
6:45881537 (GRCh37)
Canonical SPDI:: NC_000006.12:45913799:T:A,NC_000006.12:45913799:T:G
Gene:: CLIC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.001369/4 (KOREAN)
A=0.001769/30 (TOMMO)
HGVS:: NC_000006.12:g.45913800T>A, NC_000006.12:g.45913800T>G, NC_000006.11:g.45881537T>A, NC_000006.11:g.45881537T>G, NG_031965.1:g.171549A>T, NG_031965.1:g.171549A>C, NR_045673.1:n.565A>T, NR_045673.1:n.565A>C, XM_011514692.4:c.1078A>T, XM_011514692.4:c.1078A>C, XM_011514692.3:c.1078A>T, XM_011514692.3:c.1078A>C, XM_011514692.2:c.1078A>T, XM_011514692.2:c.1078A>C, XM_011514692.1:c.1078A>T, XM_011514692.1:c.1078A>C, XM_047418897.1:c.601A>T, XM_047418897.1:c.601A>C, XM_047418896.1:c.601A>T, XM_047418896.1:c.601A>C, XP_011512994.1:p.Thr360Ser, XP_011512994.1:p.Thr360Pro, XP_047274853.1:p.Thr201Ser, XP_047274853.1:p.Thr201Pro, XP_047274852.1:p.Thr201Ser, XP_047274852.1:p.Thr201Pro

Select item 146604991118.

rs1466049911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46079762 (GRCh38)
6:46047499 (GRCh37)
Canonical SPDI:: NC_000006.12:46079761:C:T
Gene:: CLIC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.46079762C>T, NC_000006.11:g.46047499C>T, NG_031965.1:g.5587G>A, NM_001114086.2:c.481G>A, NM_001114086.1:c.481G>A, NM_001370650.1:c.481G>A, XR_926258.4:n.587G>A, XR_926258.3:n.594G>A, XR_926258.2:n.587G>A, XR_926258.1:n.526G>A, XM_011514692.4:c.481G>A, XM_011514692.3:c.481G>A, XM_011514692.2:c.481G>A, XM_011514692.1:c.481G>A, XM_011514694.4:c.481G>A, XM_011514694.3:c.481G>A, XM_011514694.2:c.481G>A, XM_011514694.1:c.481G>A, NP_001107558.1:p.Glu161Lys, NP_001357579.1:p.Glu161Lys, XP_011512994.1:p.Glu161Lys, XP_011512996.1:p.Glu161Lys

Select item 146565002919.

rs1465650029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46079726 (GRCh38)
6:46047463 (GRCh37)
Canonical SPDI:: NC_000006.12:46079725:G:C
Gene:: CLIC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46079726G>C, NC_000006.11:g.46047463G>C, NG_031965.1:g.5623C>G, NM_001114086.2:c.517C>G, NM_001114086.1:c.517C>G, NM_001370650.1:c.517C>G, XR_926258.4:n.623C>G, XR_926258.3:n.630C>G, XR_926258.2:n.623C>G, XR_926258.1:n.562C>G, XM_011514692.4:c.517C>G, XM_011514692.3:c.517C>G, XM_011514692.2:c.517C>G, XM_011514692.1:c.517C>G, XM_011514694.4:c.517C>G, XM_011514694.3:c.517C>G, XM_011514694.2:c.517C>G, XM_011514694.1:c.517C>G, NP_001107558.1:p.Pro173Ala, NP_001357579.1:p.Pro173Ala, XP_011512994.1:p.Pro173Ala, XP_011512996.1:p.Pro173Ala

Select item 146463845120.

rs1464638451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:45913783 (GRCh38)
6:45881520 (GRCh37)
Canonical SPDI:: NC_000006.12:45913782:G:A
Gene:: CLIC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.45913783G>A, NC_000006.11:g.45881520G>A, NG_031965.1:g.171566C>T, NR_045673.1:n.582C>T, XM_011514692.4:c.1095C>T, XM_011514692.3:c.1095C>T, XM_011514692.2:c.1095C>T, XM_011514692.1:c.1095C>T, XM_047418897.1:c.618C>T, XM_047418896.1:c.618C>T

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