SNP Links for Protein (Select 138175817) - SNP

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Links from Protein

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Select item 14909740131.

rs1490974013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76960760 (GRCh38)
18:74672716 (GRCh37)
Canonical SPDI:: NC_000018.10:76960759:C:T
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.76960760C>T, NC_000018.9:g.74672716C>T, NM_007345.4:c.5318C>T, NM_007345.3:c.5318C>T, XM_011526165.4:c.5318C>T, XM_011526165.3:c.5318C>T, XM_011526165.2:c.5318C>T, XM_011526165.1:c.5318C>T, XM_011526166.3:c.4901C>T, XM_011526166.2:c.4901C>T, XM_011526166.1:c.4901C>T, NM_001306089.2:c.5324C>T, NM_001306089.1:c.5324C>T, XM_047437793.1:c.5153C>T, NP_031371.3:p.Thr1773Met, XP_011524467.1:p.Thr1773Met, XP_011524468.1:p.Thr1634Met, NP_001293018.1:p.Thr1775Met, XP_047293749.1:p.Thr1718Met

Select item 14907198362.

rs1490719836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76905169 (GRCh38)
18:74617125 (GRCh37)
Canonical SPDI:: NC_000018.10:76905168:A:G
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76905169A>G, NC_000018.9:g.74617125A>G, NM_007345.4:c.2045A>G, NM_007345.3:c.2045A>G, XM_011526165.4:c.2045A>G, XM_011526165.3:c.2045A>G, XM_011526165.2:c.2045A>G, XM_011526165.1:c.2045A>G, XM_011526169.4:c.2051A>G, XM_011526169.3:c.2051A>G, XM_011526169.2:c.2051A>G, XM_011526169.1:c.2051A>G, XM_011526166.3:c.1628A>G, XM_011526166.2:c.1628A>G, XM_011526166.1:c.1628A>G, XM_011526168.3:c.2051A>G, XM_011526168.2:c.2051A>G, XM_011526168.1:c.2051A>G, NM_001306089.2:c.2051A>G, NM_001306089.1:c.2051A>G, XM_047437793.1:c.1880A>G, NP_031371.3:p.Glu682Gly, XP_011524467.1:p.Glu682Gly, XP_011524471.1:p.Glu684Gly, XP_011524468.1:p.Glu543Gly, XP_011524470.1:p.Glu684Gly, NP_001293018.1:p.Glu684Gly, XP_047293749.1:p.Glu627Gly

Select item 14906860463.

rs1490686046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:76895175 (GRCh38)
18:74607131 (GRCh37)
Canonical SPDI:: NC_000018.10:76895174:T:A
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_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_000018.10:g.76895175T>A, NC_000018.9:g.74607131T>A, NM_007345.4:c.1574T>A, NM_007345.3:c.1574T>A, XM_011526165.4:c.1574T>A, XM_011526165.3:c.1574T>A, XM_011526165.2:c.1574T>A, XM_011526165.1:c.1574T>A, XM_011526169.4:c.1580T>A, XM_011526169.3:c.1580T>A, XM_011526169.2:c.1580T>A, XM_011526169.1:c.1580T>A, XM_011526166.3:c.1157T>A, XM_011526166.2:c.1157T>A, XM_011526166.1:c.1157T>A, XM_011526168.3:c.1580T>A, XM_011526168.2:c.1580T>A, XM_011526168.1:c.1580T>A, NM_001306089.2:c.1580T>A, NM_001306089.1:c.1580T>A, XM_047437793.1:c.1409T>A, NP_031371.3:p.Leu525Gln, XP_011524467.1:p.Leu525Gln, XP_011524471.1:p.Leu527Gln, XP_011524468.1:p.Leu386Gln, XP_011524470.1:p.Leu527Gln, NP_001293018.1:p.Leu527Gln, XP_047293749.1:p.Leu470Gln

Select item 14904876224.

rs1490487622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:76968309 (GRCh38)
18:74680265 (GRCh37)
Canonical SPDI:: NC_000018.10:76968308:C:G,NC_000018.10:76968308:C:T
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000018.10:g.76968309C>G, NC_000018.10:g.76968309C>T, NC_000018.9:g.74680265C>G, NC_000018.9:g.74680265C>T, NM_007345.4:c.5508C>G, NM_007345.4:c.5508C>T, NM_007345.3:c.5508C>G, NM_007345.3:c.5508C>T, XM_011526165.4:c.5508C>G, XM_011526165.4:c.5508C>T, XM_011526165.3:c.5508C>G, XM_011526165.3:c.5508C>T, XM_011526165.2:c.5508C>G, XM_011526165.2:c.5508C>T, XM_011526165.1:c.5508C>G, XM_011526165.1:c.5508C>T, XM_011526166.3:c.5091C>G, XM_011526166.3:c.5091C>T, XM_011526166.2:c.5091C>G, XM_011526166.2:c.5091C>T, XM_011526166.1:c.5091C>G, XM_011526166.1:c.5091C>T, NM_001306089.2:c.5514C>G, NM_001306089.2:c.5514C>T, NM_001306089.1:c.5514C>G, NM_001306089.1:c.5514C>T, XM_047437793.1:c.5343C>G, XM_047437793.1:c.5343C>T

Select item 14902282205.

rs1490228220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76908455 (GRCh38)
18:74620411 (GRCh37)
Canonical SPDI:: NC_000018.10:76908454:A:G
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76908455A>G, NC_000018.9:g.74620411A>G, NM_007345.4:c.2427A>G, NM_007345.3:c.2427A>G, XM_011526165.4:c.2427A>G, XM_011526165.3:c.2427A>G, XM_011526165.2:c.2427A>G, XM_011526165.1:c.2427A>G, XM_011526169.4:c.2433A>G, XM_011526169.3:c.2433A>G, XM_011526169.2:c.2433A>G, XM_011526169.1:c.2433A>G, XM_011526166.3:c.2010A>G, XM_011526166.2:c.2010A>G, XM_011526166.1:c.2010A>G, XM_011526168.3:c.2433A>G, XM_011526168.2:c.2433A>G, XM_011526168.1:c.2433A>G, NM_001306089.2:c.2433A>G, NM_001306089.1:c.2433A>G, XM_047437793.1:c.2262A>G

Select item 14898928656.

rs1489892865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76880175 (GRCh38)
18:74592131 (GRCh37)
Canonical SPDI:: NC_000018.10:76880174:C:T
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.76880175C>T, NC_000018.9:g.74592131C>T, NM_007345.4:c.1041C>T, NM_007345.3:c.1041C>T, XM_011526165.4:c.1041C>T, XM_011526165.3:c.1041C>T, XM_011526165.2:c.1041C>T, XM_011526165.1:c.1041C>T, XM_011526169.4:c.1047C>T, XM_011526169.3:c.1047C>T, XM_011526169.2:c.1047C>T, XM_011526169.1:c.1047C>T, XM_011526166.3:c.624C>T, XM_011526166.2:c.624C>T, XM_011526166.1:c.624C>T, XM_011526168.3:c.1047C>T, XM_011526168.2:c.1047C>T, XM_011526168.1:c.1047C>T, NM_001306089.2:c.1047C>T, NM_001306089.1:c.1047C>T, XM_047437793.1:c.876C>T

Select item 14896153907.

rs1489615390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76915655 (GRCh38)
18:74627611 (GRCh37)
Canonical SPDI:: NC_000018.10:76915654:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76915655G>A, NC_000018.9:g.74627611G>A, NM_007345.4:c.3064G>A, NM_007345.3:c.3064G>A, XM_011526165.4:c.3064G>A, XM_011526165.3:c.3064G>A, XM_011526165.2:c.3064G>A, XM_011526165.1:c.3064G>A, XM_011526169.4:c.3070G>A, XM_011526169.3:c.3070G>A, XM_011526169.2:c.3070G>A, XM_011526169.1:c.3070G>A, XM_011526166.3:c.2647G>A, XM_011526166.2:c.2647G>A, XM_011526166.1:c.2647G>A, XM_011526168.3:c.3070G>A, XM_011526168.2:c.3070G>A, XM_011526168.1:c.3070G>A, NM_001306089.2:c.3070G>A, NM_001306089.1:c.3070G>A, XM_047437793.1:c.2899G>A, NP_031371.3:p.Ala1022Thr, XP_011524467.1:p.Ala1022Thr, XP_011524471.1:p.Ala1024Thr, XP_011524468.1:p.Ala883Thr, XP_011524470.1:p.Ala1024Thr, NP_001293018.1:p.Ala1024Thr, XP_047293749.1:p.Ala967Thr

Select item 14891250918.

rs1489125091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76915734 (GRCh38)
18:74627690 (GRCh37)
Canonical SPDI:: NC_000018.10:76915733:T:C
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76915734T>C, NC_000018.9:g.74627690T>C, NM_007345.4:c.3143T>C, NM_007345.3:c.3143T>C, XM_011526165.4:c.3143T>C, XM_011526165.3:c.3143T>C, XM_011526165.2:c.3143T>C, XM_011526165.1:c.3143T>C, XM_011526169.4:c.3149T>C, XM_011526169.3:c.3149T>C, XM_011526169.2:c.3149T>C, XM_011526169.1:c.3149T>C, XM_011526166.3:c.2726T>C, XM_011526166.2:c.2726T>C, XM_011526166.1:c.2726T>C, XM_011526168.3:c.3149T>C, XM_011526168.2:c.3149T>C, XM_011526168.1:c.3149T>C, NM_001306089.2:c.3149T>C, NM_001306089.1:c.3149T>C, XM_047437793.1:c.2978T>C, NP_031371.3:p.Met1048Thr, XP_011524467.1:p.Met1048Thr, XP_011524471.1:p.Met1050Thr, XP_011524468.1:p.Met909Thr, XP_011524470.1:p.Met1050Thr, NP_001293018.1:p.Met1050Thr, XP_047293749.1:p.Met993Thr

Select item 14887932289.

rs1488793228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:76960703 (GRCh38)
18:74672659 (GRCh37)
Canonical SPDI:: NC_000018.10:76960702:T:G
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_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_000018.10:g.76960703T>G, NC_000018.9:g.74672659T>G, NM_007345.4:c.5261T>G, NM_007345.3:c.5261T>G, XM_011526165.4:c.5261T>G, XM_011526165.3:c.5261T>G, XM_011526165.2:c.5261T>G, XM_011526165.1:c.5261T>G, XM_011526166.3:c.4844T>G, XM_011526166.2:c.4844T>G, XM_011526166.1:c.4844T>G, NM_001306089.2:c.5267T>G, NM_001306089.1:c.5267T>G, XM_047437793.1:c.5096T>G, NP_031371.3:p.Leu1754Arg, XP_011524467.1:p.Leu1754Arg, XP_011524468.1:p.Leu1615Arg, NP_001293018.1:p.Leu1756Arg, XP_047293749.1:p.Leu1699Arg

Select item 148716417710.

rs1487164177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76925212 (GRCh38)
18:74637168 (GRCh37)
Canonical SPDI:: NC_000018.10:76925211:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.76925212G>A, NC_000018.9:g.74637168G>A, NM_007345.4:c.3679G>A, NM_007345.3:c.3679G>A, XM_011526165.4:c.3679G>A, XM_011526165.3:c.3679G>A, XM_011526165.2:c.3679G>A, XM_011526165.1:c.3679G>A, XM_011526169.4:c.3685G>A, XM_011526169.3:c.3685G>A, XM_011526169.2:c.3685G>A, XM_011526169.1:c.3685G>A, XM_011526166.3:c.3262G>A, XM_011526166.2:c.3262G>A, XM_011526166.1:c.3262G>A, XM_011526168.3:c.3685G>A, XM_011526168.2:c.3685G>A, XM_011526168.1:c.3685G>A, NM_001306089.2:c.3685G>A, NM_001306089.1:c.3685G>A, XM_047437793.1:c.3514G>A, NP_031371.3:p.Val1227Ile, XP_011524467.1:p.Val1227Ile, XP_011524471.1:p.Val1229Ile, XP_011524468.1:p.Val1088Ile, XP_011524470.1:p.Val1229Ile, NP_001293018.1:p.Val1229Ile, XP_047293749.1:p.Val1172Ile

Select item 148666577111.

rs1486665771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:76925513 (GRCh38)
18:74637469 (GRCh37)
Canonical SPDI:: NC_000018.10:76925512:C:G
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76925513C>G, NC_000018.9:g.74637469C>G, NM_007345.4:c.3980C>G, NM_007345.3:c.3980C>G, XM_011526165.4:c.3980C>G, XM_011526165.3:c.3980C>G, XM_011526165.2:c.3980C>G, XM_011526165.1:c.3980C>G, XM_011526169.4:c.3986C>G, XM_011526169.3:c.3986C>G, XM_011526169.2:c.3986C>G, XM_011526169.1:c.3986C>G, XM_011526166.3:c.3563C>G, XM_011526166.2:c.3563C>G, XM_011526166.1:c.3563C>G, XM_011526168.3:c.3986C>G, XM_011526168.2:c.3986C>G, XM_011526168.1:c.3986C>G, NM_001306089.2:c.3986C>G, NM_001306089.1:c.3986C>G, XM_047437793.1:c.3815C>G, NP_031371.3:p.Pro1327Arg, XP_011524467.1:p.Pro1327Arg, XP_011524471.1:p.Pro1329Arg, XP_011524468.1:p.Pro1188Arg, XP_011524470.1:p.Pro1329Arg, NP_001293018.1:p.Pro1329Arg, XP_047293749.1:p.Pro1272Arg

Select item 148458111712.

rs1484581117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:76915663 (GRCh38)
18:74627619 (GRCh37)
Canonical SPDI:: NC_000018.10:76915662:C:G
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000018.10:g.76915663C>G, NC_000018.9:g.74627619C>G, NM_007345.4:c.3072C>G, NM_007345.3:c.3072C>G, XM_011526165.4:c.3072C>G, XM_011526165.3:c.3072C>G, XM_011526165.2:c.3072C>G, XM_011526165.1:c.3072C>G, XM_011526169.4:c.3078C>G, XM_011526169.3:c.3078C>G, XM_011526169.2:c.3078C>G, XM_011526169.1:c.3078C>G, XM_011526166.3:c.2655C>G, XM_011526166.2:c.2655C>G, XM_011526166.1:c.2655C>G, XM_011526168.3:c.3078C>G, XM_011526168.2:c.3078C>G, XM_011526168.1:c.3078C>G, NM_001306089.2:c.3078C>G, NM_001306089.1:c.3078C>G, XM_047437793.1:c.2907C>G, NP_031371.3:p.Ser1024Arg, XP_011524467.1:p.Ser1024Arg, XP_011524471.1:p.Ser1026Arg, XP_011524468.1:p.Ser885Arg, XP_011524470.1:p.Ser1026Arg, NP_001293018.1:p.Ser1026Arg, XP_047293749.1:p.Ser969Arg

Select item 148362139513.

rs1483621395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76960836 (GRCh38)
18:74672792 (GRCh37)
Canonical SPDI:: NC_000018.10:76960835:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76960836G>A, NC_000018.9:g.74672792G>A, NM_007345.4:c.5394G>A, NM_007345.3:c.5394G>A, XM_011526165.4:c.5394G>A, XM_011526165.3:c.5394G>A, XM_011526165.2:c.5394G>A, XM_011526165.1:c.5394G>A, XM_011526166.3:c.4977G>A, XM_011526166.2:c.4977G>A, XM_011526166.1:c.4977G>A, NM_001306089.2:c.5400G>A, NM_001306089.1:c.5400G>A, XM_047437793.1:c.5229G>A

Select item 148232076514.

rs1482320765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:76925412 (GRCh38)
18:74637368 (GRCh37)
Canonical SPDI:: NC_000018.10:76925411:G:A,NC_000018.10:76925411:G:C
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_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_000018.10:g.76925412G>A, NC_000018.10:g.76925412G>C, NC_000018.9:g.74637368G>A, NC_000018.9:g.74637368G>C, NM_007345.4:c.3879G>A, NM_007345.4:c.3879G>C, NM_007345.3:c.3879G>A, NM_007345.3:c.3879G>C, XM_011526165.4:c.3879G>A, XM_011526165.4:c.3879G>C, XM_011526165.3:c.3879G>A, XM_011526165.3:c.3879G>C, XM_011526165.2:c.3879G>A, XM_011526165.2:c.3879G>C, XM_011526165.1:c.3879G>A, XM_011526165.1:c.3879G>C, XM_011526169.4:c.3885G>A, XM_011526169.4:c.3885G>C, XM_011526169.3:c.3885G>A, XM_011526169.3:c.3885G>C, XM_011526169.2:c.3885G>A, XM_011526169.2:c.3885G>C, XM_011526169.1:c.3885G>A, XM_011526169.1:c.3885G>C, XM_011526166.3:c.3462G>A, XM_011526166.3:c.3462G>C, XM_011526166.2:c.3462G>A, XM_011526166.2:c.3462G>C, XM_011526166.1:c.3462G>A, XM_011526166.1:c.3462G>C, XM_011526168.3:c.3885G>A, XM_011526168.3:c.3885G>C, XM_011526168.2:c.3885G>A, XM_011526168.2:c.3885G>C, XM_011526168.1:c.3885G>A, XM_011526168.1:c.3885G>C, NM_001306089.2:c.3885G>A, NM_001306089.2:c.3885G>C, NM_001306089.1:c.3885G>A, NM_001306089.1:c.3885G>C, XM_047437793.1:c.3714G>A, XM_047437793.1:c.3714G>C

Select item 148016173715.

rs1480161737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76908397 (GRCh38)
18:74620353 (GRCh37)
Canonical SPDI:: NC_000018.10:76908396:T:C
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76908397T>C, NC_000018.9:g.74620353T>C, NM_007345.4:c.2369T>C, NM_007345.3:c.2369T>C, XM_011526165.4:c.2369T>C, XM_011526165.3:c.2369T>C, XM_011526165.2:c.2369T>C, XM_011526165.1:c.2369T>C, XM_011526169.4:c.2375T>C, XM_011526169.3:c.2375T>C, XM_011526169.2:c.2375T>C, XM_011526169.1:c.2375T>C, XM_011526166.3:c.1952T>C, XM_011526166.2:c.1952T>C, XM_011526166.1:c.1952T>C, XM_011526168.3:c.2375T>C, XM_011526168.2:c.2375T>C, XM_011526168.1:c.2375T>C, NM_001306089.2:c.2375T>C, NM_001306089.1:c.2375T>C, XM_047437793.1:c.2204T>C, NP_031371.3:p.Met790Thr, XP_011524467.1:p.Met790Thr, XP_011524471.1:p.Met792Thr, XP_011524468.1:p.Met651Thr, XP_011524470.1:p.Met792Thr, NP_001293018.1:p.Met792Thr, XP_047293749.1:p.Met735Thr

Select item 147998923816.

rs1479989238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76956136 (GRCh38)
18:74668092 (GRCh37)
Canonical SPDI:: NC_000018.10:76956135:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.76956136G>A, NC_000018.9:g.74668092G>A, NM_007345.4:c.5060G>A, NM_007345.3:c.5060G>A, XM_011526165.4:c.5060G>A, XM_011526165.3:c.5060G>A, XM_011526165.2:c.5060G>A, XM_011526165.1:c.5060G>A, XM_011526166.3:c.4643G>A, XM_011526166.2:c.4643G>A, XM_011526166.1:c.4643G>A, NM_001306089.2:c.5066G>A, NM_001306089.1:c.5066G>A, XM_047437793.1:c.4895G>A, NP_031371.3:p.Gly1687Asp, XP_011524467.1:p.Gly1687Asp, XP_011524468.1:p.Gly1548Asp, NP_001293018.1:p.Gly1689Asp, XP_047293749.1:p.Gly1632Asp

Select item 147976316417.

rs1479763164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76927505 (GRCh38)
18:74639461 (GRCh37)
Canonical SPDI:: NC_000018.10:76927504:A:G
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.76927505A>G, NC_000018.9:g.74639461A>G, NM_007345.4:c.4396A>G, NM_007345.3:c.4396A>G, XM_011526165.4:c.4396A>G, XM_011526165.3:c.4396A>G, XM_011526165.2:c.4396A>G, XM_011526165.1:c.4396A>G, XM_011526169.4:c.4402A>G, XM_011526169.3:c.4402A>G, XM_011526169.2:c.4402A>G, XM_011526169.1:c.4402A>G, XM_011526166.3:c.3979A>G, XM_011526166.2:c.3979A>G, XM_011526166.1:c.3979A>G, XM_011526168.3:c.4402A>G, XM_011526168.2:c.4402A>G, XM_011526168.1:c.4402A>G, NM_001306089.2:c.4402A>G, NM_001306089.1:c.4402A>G, XM_047437793.1:c.4231A>G, NP_031371.3:p.Thr1466Ala, XP_011524467.1:p.Thr1466Ala, XP_011524471.1:p.Thr1468Ala, XP_011524468.1:p.Thr1327Ala, XP_011524470.1:p.Thr1468Ala, NP_001293018.1:p.Thr1468Ala, XP_047293749.1:p.Thr1411Ala

Select item 147917869518.

rs1479178695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76910102 (GRCh38)
18:74622058 (GRCh37)
Canonical SPDI:: NC_000018.10:76910101:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.76910102G>A, NC_000018.9:g.74622058G>A, NM_007345.4:c.2580G>A, NM_007345.3:c.2580G>A, XM_011526165.4:c.2580G>A, XM_011526165.3:c.2580G>A, XM_011526165.2:c.2580G>A, XM_011526165.1:c.2580G>A, XM_011526169.4:c.2586G>A, XM_011526169.3:c.2586G>A, XM_011526169.2:c.2586G>A, XM_011526169.1:c.2586G>A, XM_011526166.3:c.2163G>A, XM_011526166.2:c.2163G>A, XM_011526166.1:c.2163G>A, XM_011526168.3:c.2586G>A, XM_011526168.2:c.2586G>A, XM_011526168.1:c.2586G>A, NM_001306089.2:c.2586G>A, NM_001306089.1:c.2586G>A, XM_047437793.1:c.2415G>A

Select item 147839714319.

rs1478397143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:76878112 (GRCh38)
18:74590068 (GRCh37)
Canonical SPDI:: NC_000018.10:76878111:A:C
Gene:: ZNF236 (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)
HGVS:: NC_000018.10:g.76878112A>C, NC_000018.9:g.74590068A>C, NM_007345.4:c.938A>C, NM_007345.3:c.938A>C, XM_011526165.4:c.938A>C, XM_011526165.3:c.938A>C, XM_011526165.2:c.938A>C, XM_011526165.1:c.938A>C, XM_011526169.4:c.944A>C, XM_011526169.3:c.944A>C, XM_011526169.2:c.944A>C, XM_011526169.1:c.944A>C, XM_011526166.3:c.521A>C, XM_011526166.2:c.521A>C, XM_011526166.1:c.521A>C, XM_011526168.3:c.944A>C, XM_011526168.2:c.944A>C, XM_011526168.1:c.944A>C, NM_001306089.2:c.944A>C, NM_001306089.1:c.944A>C, XM_047437793.1:c.773A>C, NP_031371.3:p.Gln313Pro, XP_011524467.1:p.Gln313Pro, XP_011524471.1:p.Gln315Pro, XP_011524468.1:p.Gln174Pro, XP_011524470.1:p.Gln315Pro, NP_001293018.1:p.Gln315Pro, XP_047293749.1:p.Gln258Pro

Select item 147819929320.

rs1478199293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76912277 (GRCh38)
18:74624233 (GRCh37)
Canonical SPDI:: NC_000018.10:76912276:G:A
Gene:: ZNF236 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.76912277G>A, NC_000018.9:g.74624233G>A, NM_007345.4:c.2833G>A, NM_007345.3:c.2833G>A, XM_011526165.4:c.2833G>A, XM_011526165.3:c.2833G>A, XM_011526165.2:c.2833G>A, XM_011526165.1:c.2833G>A, XM_011526169.4:c.2839G>A, XM_011526169.3:c.2839G>A, XM_011526169.2:c.2839G>A, XM_011526169.1:c.2839G>A, XM_011526166.3:c.2416G>A, XM_011526166.2:c.2416G>A, XM_011526166.1:c.2416G>A, XM_011526168.3:c.2839G>A, XM_011526168.2:c.2839G>A, XM_011526168.1:c.2839G>A, NM_001306089.2:c.2839G>A, NM_001306089.1:c.2839G>A, XM_047437793.1:c.2668G>A, NP_031371.3:p.Glu945Lys, XP_011524467.1:p.Glu945Lys, XP_011524471.1:p.Glu947Lys, XP_011524468.1:p.Glu806Lys, XP_011524470.1:p.Glu947Lys, NP_001293018.1:p.Glu947Lys, XP_047293749.1:p.Glu890Lys

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