SNP Links for Protein (Select 567316168) - SNP

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Links from Protein

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Select item 14885908681.

rs1488590868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:15945038 (GRCh38)
1:16271533 (GRCh37)
Canonical SPDI:: NC_000001.11:15945037:A:T
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.15945038A>T, NC_000001.10:g.16271533A>T, XM_011542087.4:c.580T>A, XM_011542087.3:c.580T>A, XM_011542087.2:c.580T>A, XM_011542087.1:c.580T>A, XM_011542085.4:c.598T>A, XM_011542085.3:c.598T>A, XM_011542085.2:c.598T>A, XM_011542085.1:c.598T>A, NM_003443.3:c.826T>A, NM_003443.2:c.826T>A, XM_005245986.3:c.637T>A, XM_005245986.2:c.637T>A, XM_005245986.1:c.637T>A, NM_001287603.2:c.826T>A, NM_001287603.1:c.826T>A, NM_001287604.2:c.598T>A, NM_001287604.1:c.598T>A, NM_001242884.2:c.580T>A, NM_001242884.1:c.580T>A, NM_001324138.2:c.637T>A, NM_001324138.1:c.637T>A, NM_001324137.2:c.598T>A, NM_001324137.1:c.598T>A, XM_047429978.1:c.598T>A, XP_011540389.1:p.Ser194Thr, XP_011540387.1:p.Ser200Thr, NP_003434.2:p.Ser276Thr, XP_005246043.1:p.Ser213Thr, NP_001274532.1:p.Ser276Thr, NP_001274533.1:p.Ser200Thr, NP_001229813.1:p.Ser194Thr, NP_001311067.1:p.Ser213Thr, NP_001311066.1:p.Ser200Thr, XP_047285934.1:p.Ser200Thr

Select item 14845287202.

rs1484528720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15942581 (GRCh38)
1:16269076 (GRCh37)
Canonical SPDI:: NC_000001.11:15942580:C:T
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15942581C>T, NC_000001.10:g.16269076C>T, NG_081956.1:g.558C>T, XM_011542087.4:c.1740G>A, XM_011542087.3:c.1740G>A, XM_011542087.2:c.1740G>A, XM_011542087.1:c.1740G>A, XM_011542085.4:c.1758G>A, XM_011542085.3:c.1758G>A, XM_011542085.2:c.1758G>A, XM_011542085.1:c.1758G>A, NM_003443.3:c.1986G>A, NM_003443.2:c.1986G>A, XM_005245986.3:c.1797G>A, XM_005245986.2:c.1797G>A, XM_005245986.1:c.1797G>A, NM_001287603.2:c.1986G>A, NM_001287603.1:c.1986G>A, NM_001287604.2:c.1758G>A, NM_001287604.1:c.1758G>A, NM_001242884.2:c.1740G>A, NM_001242884.1:c.1740G>A, NM_001324138.2:c.1797G>A, NM_001324138.1:c.1797G>A, NM_001324137.2:c.1758G>A, NM_001324137.1:c.1758G>A, XM_047429978.1:c.1758G>A, XP_011540389.1:p.Met580Ile, XP_011540387.1:p.Met586Ile, NP_003434.2:p.Met662Ile, XP_005246043.1:p.Met599Ile, NP_001274532.1:p.Met662Ile, NP_001274533.1:p.Met586Ile, NP_001229813.1:p.Met580Ile, NP_001311067.1:p.Met599Ile, NP_001311066.1:p.Met586Ile, XP_047285934.1:p.Met586Ile

Select item 14845166893.

rs1484516689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15944600 (GRCh38)
1:16271095 (GRCh37)
Canonical SPDI:: NC_000001.11:15944599:G:A
Gene:: ZBTB17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15944600G>A, NC_000001.10:g.16271095G>A, XM_011542087.4:c.825C>T, XM_011542087.3:c.825C>T, XM_011542087.2:c.825C>T, XM_011542087.1:c.825C>T, XM_011542085.4:c.843C>T, XM_011542085.3:c.843C>T, XM_011542085.2:c.843C>T, XM_011542085.1:c.843C>T, NM_003443.3:c.1071C>T, NM_003443.2:c.1071C>T, XM_005245986.3:c.882C>T, XM_005245986.2:c.882C>T, XM_005245986.1:c.882C>T, NM_001287603.2:c.1071C>T, NM_001287603.1:c.1071C>T, NM_001287604.2:c.843C>T, NM_001287604.1:c.843C>T, NM_001242884.2:c.825C>T, NM_001242884.1:c.825C>T, NM_001324138.2:c.882C>T, NM_001324138.1:c.882C>T, NM_001324137.2:c.843C>T, NM_001324137.1:c.843C>T, XM_047429978.1:c.843C>T

Select item 14833951554.

rs1483395155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:15943695 (GRCh38)
1:16270190 (GRCh37)
Canonical SPDI:: NC_000001.11:15943694:G:T
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15943695G>T, NC_000001.10:g.16270190G>T, XM_011542087.4:c.1234C>A, XM_011542087.3:c.1234C>A, XM_011542087.2:c.1234C>A, XM_011542087.1:c.1234C>A, XM_011542085.4:c.1252C>A, XM_011542085.3:c.1252C>A, XM_011542085.2:c.1252C>A, XM_011542085.1:c.1252C>A, NM_003443.3:c.1480C>A, NM_003443.2:c.1480C>A, XM_005245986.3:c.1291C>A, XM_005245986.2:c.1291C>A, XM_005245986.1:c.1291C>A, NM_001287603.2:c.1480C>A, NM_001287603.1:c.1480C>A, NM_001287604.2:c.1252C>A, NM_001287604.1:c.1252C>A, NM_001242884.2:c.1234C>A, NM_001242884.1:c.1234C>A, NM_001324138.2:c.1291C>A, NM_001324138.1:c.1291C>A, NM_001324137.2:c.1252C>A, NM_001324137.1:c.1252C>A, XM_047429978.1:c.1252C>A

Select item 14828892985.

rs1482889298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:15945821 (GRCh38)
1:16272316 (GRCh37)
Canonical SPDI:: NC_000001.11:15945820:T:G
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15945821T>G, NC_000001.10:g.16272316T>G, XM_011542087.4:c.309A>C, XM_011542087.3:c.309A>C, XM_011542087.2:c.309A>C, XM_011542087.1:c.309A>C, XM_011542085.4:c.327A>C, XM_011542085.3:c.327A>C, XM_011542085.2:c.327A>C, XM_011542085.1:c.327A>C, NM_003443.3:c.555A>C, NM_003443.2:c.555A>C, XM_005245986.3:c.366A>C, XM_005245986.2:c.366A>C, XM_005245986.1:c.366A>C, NM_001287603.2:c.555A>C, NM_001287603.1:c.555A>C, NM_001287604.2:c.327A>C, NM_001287604.1:c.327A>C, NM_001242884.2:c.309A>C, NM_001242884.1:c.309A>C, NM_001324138.2:c.366A>C, NM_001324138.1:c.366A>C, NM_001324137.2:c.327A>C, NM_001324137.1:c.327A>C, XM_047429978.1:c.327A>C, XP_011540389.1:p.Lys103Asn, XP_011540387.1:p.Lys109Asn, NP_003434.2:p.Lys185Asn, XP_005246043.1:p.Lys122Asn, NP_001274532.1:p.Lys185Asn, NP_001274533.1:p.Lys109Asn, NP_001229813.1:p.Lys103Asn, NP_001311067.1:p.Lys122Asn, NP_001311066.1:p.Lys109Asn, XP_047285934.1:p.Lys109Asn

Select item 14827437136.

rs1482743713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15944563 (GRCh38)
1:16271058 (GRCh37)
Canonical SPDI:: NC_000001.11:15944562:T:C
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15944563T>C, NC_000001.10:g.16271058T>C, XM_011542087.4:c.862A>G, XM_011542087.3:c.862A>G, XM_011542087.2:c.862A>G, XM_011542087.1:c.862A>G, XM_011542085.4:c.880A>G, XM_011542085.3:c.880A>G, XM_011542085.2:c.880A>G, XM_011542085.1:c.880A>G, NM_003443.3:c.1108A>G, NM_003443.2:c.1108A>G, XM_005245986.3:c.919A>G, XM_005245986.2:c.919A>G, XM_005245986.1:c.919A>G, NM_001287603.2:c.1108A>G, NM_001287603.1:c.1108A>G, NM_001287604.2:c.880A>G, NM_001287604.1:c.880A>G, NM_001242884.2:c.862A>G, NM_001242884.1:c.862A>G, NM_001324138.2:c.919A>G, NM_001324138.1:c.919A>G, NM_001324137.2:c.880A>G, NM_001324137.1:c.880A>G, XM_047429978.1:c.880A>G, XP_011540389.1:p.Ser288Gly, XP_011540387.1:p.Ser294Gly, NP_003434.2:p.Ser370Gly, XP_005246043.1:p.Ser307Gly, NP_001274532.1:p.Ser370Gly, NP_001274533.1:p.Ser294Gly, NP_001229813.1:p.Ser288Gly, NP_001311067.1:p.Ser307Gly, NP_001311066.1:p.Ser294Gly, XP_047285934.1:p.Ser294Gly

Select item 14827422517.

rs1482742251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15947003 (GRCh38)
1:16273498 (GRCh37)
Canonical SPDI:: NC_000001.11:15947002:T:C
Gene:: ZBTB17 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15947003T>C, NC_000001.10:g.16273498T>C, XM_011542087.4:c.58A>G, XM_011542087.3:c.58A>G, XM_011542087.2:c.58A>G, XM_011542087.1:c.58A>G, XM_011542085.4:c.98A>G, XM_011542085.3:c.98A>G, XM_011542085.2:c.98A>G, XM_011542085.1:c.98A>G, NM_003443.3:c.326A>G, NM_003443.2:c.326A>G, NM_001287603.2:c.326A>G, NM_001287603.1:c.326A>G, NM_001287604.2:c.98A>G, NM_001287604.1:c.98A>G, NM_001242884.2:c.58A>G, NM_001242884.1:c.58A>G, NM_001324137.2:c.98A>G, NM_001324137.1:c.98A>G, XM_047429978.1:c.98A>G, XP_011540389.1:p.Met20Val, XP_011540387.1:p.His33Arg, NP_003434.2:p.His109Arg, NP_001274532.1:p.His109Arg, NP_001274533.1:p.His33Arg, NP_001229813.1:p.Met20Val, NP_001311066.1:p.His33Arg, XP_047285934.1:p.His33Arg

Select item 14813943658.

rs1481394365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:15944517 (GRCh38)
1:16271012 (GRCh37)
Canonical SPDI:: NC_000001.11:15944516:G:A,NC_000001.11:15944516:G:T
Gene:: ZBTB17 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.15944517G>A, NC_000001.11:g.15944517G>T, NC_000001.10:g.16271012G>A, NC_000001.10:g.16271012G>T, XM_011542087.4:c.908C>T, XM_011542087.4:c.908C>A, XM_011542087.3:c.908C>T, XM_011542087.3:c.908C>A, XM_011542087.2:c.908C>T, XM_011542087.2:c.908C>A, XM_011542087.1:c.908C>T, XM_011542087.1:c.908C>A, XM_011542085.4:c.926C>T, XM_011542085.4:c.926C>A, XM_011542085.3:c.926C>T, XM_011542085.3:c.926C>A, XM_011542085.2:c.926C>T, XM_011542085.2:c.926C>A, XM_011542085.1:c.926C>T, XM_011542085.1:c.926C>A, NM_003443.3:c.1154C>T, NM_003443.3:c.1154C>A, NM_003443.2:c.1154C>T, NM_003443.2:c.1154C>A, XM_005245986.3:c.965C>T, XM_005245986.3:c.965C>A, XM_005245986.2:c.965C>T, XM_005245986.2:c.965C>A, XM_005245986.1:c.965C>T, XM_005245986.1:c.965C>A, NM_001287603.2:c.1154C>T, NM_001287603.2:c.1154C>A, NM_001287603.1:c.1154C>T, NM_001287603.1:c.1154C>A, NM_001287604.2:c.926C>T, NM_001287604.2:c.926C>A, NM_001287604.1:c.926C>T, NM_001287604.1:c.926C>A, NM_001242884.2:c.908C>T, NM_001242884.2:c.908C>A, NM_001242884.1:c.908C>T, NM_001242884.1:c.908C>A, NM_001324138.2:c.965C>T, NM_001324138.2:c.965C>A, NM_001324138.1:c.965C>T, NM_001324138.1:c.965C>A, NM_001324137.2:c.926C>T, NM_001324137.2:c.926C>A, NM_001324137.1:c.926C>T, NM_001324137.1:c.926C>A, XM_047429978.1:c.926C>T, XM_047429978.1:c.926C>A, XP_011540389.1:p.Ser303Leu, XP_011540389.1:p.Ser303Ter, XP_011540387.1:p.Ser309Leu, XP_011540387.1:p.Ser309Ter, NP_003434.2:p.Ser385Leu, NP_003434.2:p.Ser385Ter, XP_005246043.1:p.Ser322Leu, XP_005246043.1:p.Ser322Ter, NP_001274532.1:p.Ser385Leu, NP_001274532.1:p.Ser385Ter, NP_001274533.1:p.Ser309Leu, NP_001274533.1:p.Ser309Ter, NP_001229813.1:p.Ser303Leu, NP_001229813.1:p.Ser303Ter, NP_001311067.1:p.Ser322Leu, NP_001311067.1:p.Ser322Ter, NP_001311066.1:p.Ser309Leu, NP_001311066.1:p.Ser309Ter, XP_047285934.1:p.Ser309Leu, XP_047285934.1:p.Ser309Ter

Select item 14808930779.

rs1480893077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15948439 (GRCh38)
1:16274934 (GRCh37)
Canonical SPDI:: NC_000001.11:15948438:C:T
Gene:: ZBTB17 (Varview), LOC124903855 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000001.11:g.15948439C>T, NC_000001.10:g.16274934C>T, NM_003443.3:c.57G>A, NM_003443.2:c.57G>A, XM_005245986.3:c.57G>A, XM_005245986.2:c.57G>A, XM_005245986.1:c.57G>A, NM_001287603.2:c.57G>A, NM_001287603.1:c.57G>A, NM_001287604.2:c.-168G>A, NM_001287604.1:c.-168G>A, NM_001324138.2:c.57G>A, NM_001324138.1:c.57G>A

Select item 147849736210.

rs1478497362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:15942006 (GRCh38)
1:16268501 (GRCh37)
Canonical SPDI:: NC_000001.11:15942005:G:C
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15942006G>C, NC_000001.10:g.16268501G>C, NG_050663.1:g.99143G>C, XM_011542087.4:c.2150C>G, XM_011542087.3:c.2150C>G, XM_011542087.2:c.2150C>G, XM_011542087.1:c.2150C>G, XM_011542085.4:c.2168C>G, XM_011542085.3:c.2168C>G, XM_011542085.2:c.2168C>G, XM_011542085.1:c.2168C>G, NM_003443.3:c.2375C>G, NM_003443.2:c.2375C>G, XM_005245986.3:c.2207C>G, XM_005245986.2:c.2207C>G, XM_005245986.1:c.2207C>G, NM_001287603.2:c.2396C>G, NM_001287603.1:c.2396C>G, NM_001287604.2:c.2147C>G, NM_001287604.1:c.2147C>G, NM_001242884.2:c.2129C>G, NM_001242884.1:c.2129C>G, NM_001324138.2:c.2186C>G, NM_001324138.1:c.2186C>G, NM_001324137.2:c.2147C>G, NM_001324137.1:c.2147C>G, XM_047429978.1:c.2168C>G, XP_011540389.1:p.Ser717Cys, XP_011540387.1:p.Ser723Cys, NP_003434.2:p.Ser792Cys, XP_005246043.1:p.Ser736Cys, NP_001274532.1:p.Ser799Cys, NP_001274533.1:p.Ser716Cys, NP_001229813.1:p.Ser710Cys, NP_001311067.1:p.Ser729Cys, NP_001311066.1:p.Ser716Cys, XP_047285934.1:p.Ser723Cys

Select item 147821278811.

rs1478212788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15944443 (GRCh38)
1:16270938 (GRCh37)
Canonical SPDI:: NC_000001.11:15944442:G:A
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15944443G>A, NC_000001.10:g.16270938G>A, XM_011542087.4:c.982C>T, XM_011542087.3:c.982C>T, XM_011542087.2:c.982C>T, XM_011542087.1:c.982C>T, XM_011542085.4:c.1000C>T, XM_011542085.3:c.1000C>T, XM_011542085.2:c.1000C>T, XM_011542085.1:c.1000C>T, NM_003443.3:c.1228C>T, NM_003443.2:c.1228C>T, XM_005245986.3:c.1039C>T, XM_005245986.2:c.1039C>T, XM_005245986.1:c.1039C>T, NM_001287603.2:c.1228C>T, NM_001287603.1:c.1228C>T, NM_001287604.2:c.1000C>T, NM_001287604.1:c.1000C>T, NM_001242884.2:c.982C>T, NM_001242884.1:c.982C>T, NM_001324138.2:c.1039C>T, NM_001324138.1:c.1039C>T, NM_001324137.2:c.1000C>T, NM_001324137.1:c.1000C>T, XM_047429978.1:c.1000C>T

Select item 147630740212.

rs1476307402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15943633 (GRCh38)
1:16270128 (GRCh37)
Canonical SPDI:: NC_000001.11:15943632:G:A
Gene:: ZBTB17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.15943633G>A, NC_000001.10:g.16270128G>A, XM_011542087.4:c.1296C>T, XM_011542087.3:c.1296C>T, XM_011542087.2:c.1296C>T, XM_011542087.1:c.1296C>T, XM_011542085.4:c.1314C>T, XM_011542085.3:c.1314C>T, XM_011542085.2:c.1314C>T, XM_011542085.1:c.1314C>T, NM_003443.3:c.1542C>T, NM_003443.2:c.1542C>T, XM_005245986.3:c.1353C>T, XM_005245986.2:c.1353C>T, XM_005245986.1:c.1353C>T, NM_001287603.2:c.1542C>T, NM_001287603.1:c.1542C>T, NM_001287604.2:c.1314C>T, NM_001287604.1:c.1314C>T, NM_001242884.2:c.1296C>T, NM_001242884.1:c.1296C>T, NM_001324138.2:c.1353C>T, NM_001324138.1:c.1353C>T, NM_001324137.2:c.1314C>T, NM_001324137.1:c.1314C>T, XM_047429978.1:c.1314C>T

Select item 147424814913.

rs1474248149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15948372 (GRCh38)
1:16274867 (GRCh37)
Canonical SPDI:: NC_000001.11:15948371:G:A
Gene:: ZBTB17 (Varview), LOC124903855 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
A=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.15948372G>A, NC_000001.10:g.16274867G>A, NM_003443.3:c.124C>T, NM_003443.2:c.124C>T, XM_005245986.3:c.124C>T, XM_005245986.2:c.124C>T, XM_005245986.1:c.124C>T, NM_001287603.2:c.124C>T, NM_001287603.1:c.124C>T, NM_001287604.2:c.-101C>T, NM_001287604.1:c.-101C>T, NM_001324138.2:c.124C>T, NM_001324138.1:c.124C>T, XM_047429978.1:c.-101C>T

Select item 147292168114.

rs1472921681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:15944811 (GRCh38)
1:16271306 (GRCh37)
Canonical SPDI:: NC_000001.11:15944810:C:A
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.15944811C>A, NC_000001.10:g.16271306C>A, XM_011542087.4:c.710G>T, XM_011542087.3:c.710G>T, XM_011542087.2:c.710G>T, XM_011542087.1:c.710G>T, XM_011542085.4:c.728G>T, XM_011542085.3:c.728G>T, XM_011542085.2:c.728G>T, XM_011542085.1:c.728G>T, NM_003443.3:c.956G>T, NM_003443.2:c.956G>T, XM_005245986.3:c.767G>T, XM_005245986.2:c.767G>T, XM_005245986.1:c.767G>T, NM_001287603.2:c.956G>T, NM_001287603.1:c.956G>T, NM_001287604.2:c.728G>T, NM_001287604.1:c.728G>T, NM_001242884.2:c.710G>T, NM_001242884.1:c.710G>T, NM_001324138.2:c.767G>T, NM_001324138.1:c.767G>T, NM_001324137.2:c.728G>T, NM_001324137.1:c.728G>T, XM_047429978.1:c.728G>T, XP_011540389.1:p.Gly237Val, XP_011540387.1:p.Gly243Val, NP_003434.2:p.Gly319Val, XP_005246043.1:p.Gly256Val, NP_001274532.1:p.Gly319Val, NP_001274533.1:p.Gly243Val, NP_001229813.1:p.Gly237Val, NP_001311067.1:p.Gly256Val, NP_001311066.1:p.Gly243Val, XP_047285934.1:p.Gly243Val

Select item 147227055215.

rs1472270552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:15945774 (GRCh38)
1:16272269 (GRCh37)
Canonical SPDI:: NC_000001.11:15945773:G:C
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.15945774G>C, NC_000001.10:g.16272269G>C, XM_011542087.4:c.356C>G, XM_011542087.3:c.356C>G, XM_011542087.2:c.356C>G, XM_011542087.1:c.356C>G, XM_011542085.4:c.374C>G, XM_011542085.3:c.374C>G, XM_011542085.2:c.374C>G, XM_011542085.1:c.374C>G, NM_003443.3:c.602C>G, NM_003443.2:c.602C>G, XM_005245986.3:c.413C>G, XM_005245986.2:c.413C>G, XM_005245986.1:c.413C>G, NM_001287603.2:c.602C>G, NM_001287603.1:c.602C>G, NM_001287604.2:c.374C>G, NM_001287604.1:c.374C>G, NM_001242884.2:c.356C>G, NM_001242884.1:c.356C>G, NM_001324138.2:c.413C>G, NM_001324138.1:c.413C>G, NM_001324137.2:c.374C>G, NM_001324137.1:c.374C>G, XM_047429978.1:c.374C>G, XP_011540389.1:p.Pro119Arg, XP_011540387.1:p.Pro125Arg, NP_003434.2:p.Pro201Arg, XP_005246043.1:p.Pro138Arg, NP_001274532.1:p.Pro201Arg, NP_001274533.1:p.Pro125Arg, NP_001229813.1:p.Pro119Arg, NP_001311067.1:p.Pro138Arg, NP_001311066.1:p.Pro125Arg, XP_047285934.1:p.Pro125Arg

Select item 147164523816.

rs1471645238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:15942126 (GRCh38)
1:16268621 (GRCh37)
Canonical SPDI:: NC_000001.11:15942125:T:G
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15942126T>G, NC_000001.10:g.16268621T>G, NG_050663.1:g.99263T>G, NG_081956.1:g.103T>G, XM_011542087.4:c.2030A>C, XM_011542087.3:c.2030A>C, XM_011542087.2:c.2030A>C, XM_011542087.1:c.2030A>C, XM_011542085.4:c.2048A>C, XM_011542085.3:c.2048A>C, XM_011542085.2:c.2048A>C, XM_011542085.1:c.2048A>C, NM_003443.3:c.2255A>C, NM_003443.2:c.2255A>C, XM_005245986.3:c.2087A>C, XM_005245986.2:c.2087A>C, XM_005245986.1:c.2087A>C, NM_001287603.2:c.2276A>C, NM_001287603.1:c.2276A>C, NM_001287604.2:c.2027A>C, NM_001287604.1:c.2027A>C, NM_001242884.2:c.2009A>C, NM_001242884.1:c.2009A>C, NM_001324138.2:c.2066A>C, NM_001324138.1:c.2066A>C, NM_001324137.2:c.2027A>C, NM_001324137.1:c.2027A>C, XM_047429978.1:c.2048A>C, XP_011540389.1:p.Asp677Ala, XP_011540387.1:p.Asp683Ala, NP_003434.2:p.Asp752Ala, XP_005246043.1:p.Asp696Ala, NP_001274532.1:p.Asp759Ala, NP_001274533.1:p.Asp676Ala, NP_001229813.1:p.Asp670Ala, NP_001311067.1:p.Asp689Ala, NP_001311066.1:p.Asp676Ala, XP_047285934.1:p.Asp683Ala

Select item 147153397417.

rs1471533974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:15945142 (GRCh38)
1:16271637 (GRCh37)
Canonical SPDI:: NC_000001.11:15945141:T:A
Gene:: ZBTB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15945142T>A, NC_000001.10:g.16271637T>A, XM_011542087.4:c.476A>T, XM_011542087.3:c.476A>T, XM_011542087.2:c.476A>T, XM_011542087.1:c.476A>T, XM_011542085.4:c.494A>T, XM_011542085.3:c.494A>T, XM_011542085.2:c.494A>T, XM_011542085.1:c.494A>T, NM_003443.3:c.722A>T, NM_003443.2:c.722A>T, XM_005245986.3:c.533A>T, XM_005245986.2:c.533A>T, XM_005245986.1:c.533A>T, NM_001287603.2:c.722A>T, NM_001287603.1:c.722A>T, NM_001287604.2:c.494A>T, NM_001287604.1:c.494A>T, NM_001242884.2:c.476A>T, NM_001242884.1:c.476A>T, NM_001324138.2:c.533A>T, NM_001324138.1:c.533A>T, NM_001324137.2:c.494A>T, NM_001324137.1:c.494A>T, XM_047429978.1:c.494A>T, XP_011540389.1:p.Glu159Val, XP_011540387.1:p.Glu165Val, NP_003434.2:p.Glu241Val, XP_005246043.1:p.Glu178Val, NP_001274532.1:p.Glu241Val, NP_001274533.1:p.Glu165Val, NP_001229813.1:p.Glu159Val, NP_001311067.1:p.Glu178Val, NP_001311066.1:p.Glu165Val, XP_047285934.1:p.Glu165Val

Select item 147020149918.

rs1470201499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15944789 (GRCh38)
1:16271284 (GRCh37)
Canonical SPDI:: NC_000001.11:15944788:G:A
Gene:: ZBTB17 (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_000001.11:g.15944789G>A, NC_000001.10:g.16271284G>A, XM_011542087.4:c.732C>T, XM_011542087.3:c.732C>T, XM_011542087.2:c.732C>T, XM_011542087.1:c.732C>T, XM_011542085.4:c.750C>T, XM_011542085.3:c.750C>T, XM_011542085.2:c.750C>T, XM_011542085.1:c.750C>T, NM_003443.3:c.978C>T, NM_003443.2:c.978C>T, XM_005245986.3:c.789C>T, XM_005245986.2:c.789C>T, XM_005245986.1:c.789C>T, NM_001287603.2:c.978C>T, NM_001287603.1:c.978C>T, NM_001287604.2:c.750C>T, NM_001287604.1:c.750C>T, NM_001242884.2:c.732C>T, NM_001242884.1:c.732C>T, NM_001324138.2:c.789C>T, NM_001324138.1:c.789C>T, NM_001324137.2:c.750C>T, NM_001324137.1:c.750C>T, XM_047429978.1:c.750C>T

Select item 146987514619.

rs1469875146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:15944726 (GRCh38)
1:16271221 (GRCh37)
Canonical SPDI:: NC_000001.11:15944725:G:A,NC_000001.11:15944725:G:T
Gene:: ZBTB17 (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)
HGVS:: NC_000001.11:g.15944726G>A, NC_000001.11:g.15944726G>T, NC_000001.10:g.16271221G>A, NC_000001.10:g.16271221G>T, XM_011542087.4:c.795C>T, XM_011542087.4:c.795C>A, XM_011542087.3:c.795C>T, XM_011542087.3:c.795C>A, XM_011542087.2:c.795C>T, XM_011542087.2:c.795C>A, XM_011542087.1:c.795C>T, XM_011542087.1:c.795C>A, XM_011542085.4:c.813C>T, XM_011542085.4:c.813C>A, XM_011542085.3:c.813C>T, XM_011542085.3:c.813C>A, XM_011542085.2:c.813C>T, XM_011542085.2:c.813C>A, XM_011542085.1:c.813C>T, XM_011542085.1:c.813C>A, NM_003443.3:c.1041C>T, NM_003443.3:c.1041C>A, NM_003443.2:c.1041C>T, NM_003443.2:c.1041C>A, XM_005245986.3:c.852C>T, XM_005245986.3:c.852C>A, XM_005245986.2:c.852C>T, XM_005245986.2:c.852C>A, XM_005245986.1:c.852C>T, XM_005245986.1:c.852C>A, NM_001287603.2:c.1041C>T, NM_001287603.2:c.1041C>A, NM_001287603.1:c.1041C>T, NM_001287603.1:c.1041C>A, NM_001287604.2:c.813C>T, NM_001287604.2:c.813C>A, NM_001287604.1:c.813C>T, NM_001287604.1:c.813C>A, NM_001242884.2:c.795C>T, NM_001242884.2:c.795C>A, NM_001242884.1:c.795C>T, NM_001242884.1:c.795C>A, NM_001324138.2:c.852C>T, NM_001324138.2:c.852C>A, NM_001324138.1:c.852C>T, NM_001324138.1:c.852C>A, NM_001324137.2:c.813C>T, NM_001324137.2:c.813C>A, NM_001324137.1:c.813C>T, NM_001324137.1:c.813C>A, XM_047429978.1:c.813C>T, XM_047429978.1:c.813C>A

Select item 146802250920.

rs1468022509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15945030 (GRCh38)
1:16271525 (GRCh37)
Canonical SPDI:: NC_000001.11:15945029:C:T
Gene:: ZBTB17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.15945030C>T, NC_000001.10:g.16271525C>T, XM_011542087.4:c.588G>A, XM_011542087.3:c.588G>A, XM_011542087.2:c.588G>A, XM_011542087.1:c.588G>A, XM_011542085.4:c.606G>A, XM_011542085.3:c.606G>A, XM_011542085.2:c.606G>A, XM_011542085.1:c.606G>A, NM_003443.3:c.834G>A, NM_003443.2:c.834G>A, XM_005245986.3:c.645G>A, XM_005245986.2:c.645G>A, XM_005245986.1:c.645G>A, NM_001287603.2:c.834G>A, NM_001287603.1:c.834G>A, NM_001287604.2:c.606G>A, NM_001287604.1:c.606G>A, NM_001242884.2:c.588G>A, NM_001242884.1:c.588G>A, NM_001324138.2:c.645G>A, NM_001324138.1:c.645G>A, NM_001324137.2:c.606G>A, NM_001324137.1:c.606G>A, XM_047429978.1:c.606G>A

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