SNP Links for Protein (Select 219689126) - SNP

Select item 14859208191.

rs1485920819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5290894 (GRCh38)
18:5290893 (GRCh37)
Canonical SPDI:: NC_000018.10:5290893:T:C
Gene:: ZBTB14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.5290894T>C, NC_000018.9:g.5290893T>C, NM_003409.5:c.1314A>G, NM_003409.4:c.1314A>G, NM_001143823.3:c.1314A>G, NM_001143823.2:c.1314A>G, XM_024451265.2:c.1314A>G, XM_024451265.1:c.1314A>G, XM_024451263.2:c.1314A>G, XM_024451263.1:c.1314A>G, XM_024451261.2:c.1314A>G, XM_024451261.1:c.1314A>G, XM_024451264.2:c.1314A>G, XM_024451264.1:c.1314A>G, XM_024451262.2:c.1314A>G, XM_024451262.1:c.1314A>G, NM_001243702.2:c.1314A>G, NM_001243702.1:c.1314A>G, XM_024451266.2:c.1314A>G, XM_024451266.1:c.1314A>G, NM_001243704.2:c.1314A>G, NM_001243704.1:c.1314A>G, NR_026569.1:n.1475A>G

Select item 14803017702.

rs1480301770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:5290918 (GRCh38)
18:5290917 (GRCh37)
Canonical SPDI:: NC_000018.10:5290917:C:G
Gene:: ZBTB14 (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)
HGVS:: NC_000018.10:g.5290918C>G, NC_000018.9:g.5290917C>G, NM_003409.5:c.1290G>C, NM_003409.4:c.1290G>C, NM_001143823.3:c.1290G>C, NM_001143823.2:c.1290G>C, XM_024451265.2:c.1290G>C, XM_024451265.1:c.1290G>C, XM_024451263.2:c.1290G>C, XM_024451263.1:c.1290G>C, XM_024451261.2:c.1290G>C, XM_024451261.1:c.1290G>C, XM_024451264.2:c.1290G>C, XM_024451264.1:c.1290G>C, XM_024451262.2:c.1290G>C, XM_024451262.1:c.1290G>C, NM_001243702.2:c.1290G>C, NM_001243702.1:c.1290G>C, XM_024451266.2:c.1290G>C, XM_024451266.1:c.1290G>C, NM_001243704.2:c.1290G>C, NM_001243704.1:c.1290G>C, NR_026569.1:n.1451G>C, NP_003400.2:p.Leu430Phe, NP_001137295.1:p.Leu430Phe, XP_024307033.1:p.Leu430Phe, XP_024307031.1:p.Leu430Phe, XP_024307029.1:p.Leu430Phe, XP_024307032.1:p.Leu430Phe, XP_024307030.1:p.Leu430Phe, NP_001230631.1:p.Leu430Phe, XP_024307034.1:p.Leu430Phe, NP_001230633.1:p.Leu430Phe

Select item 14762351583.

rs1476235158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:5291182 (GRCh38)
18:5291181 (GRCh37)
Canonical SPDI:: NC_000018.10:5291181:A:G
Gene:: ZBTB14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.5291182A>G, NC_000018.9:g.5291181A>G, NM_003409.5:c.1026T>C, NM_003409.4:c.1026T>C, NM_001143823.3:c.1026T>C, NM_001143823.2:c.1026T>C, XM_024451265.2:c.1026T>C, XM_024451265.1:c.1026T>C, XM_024451263.2:c.1026T>C, XM_024451263.1:c.1026T>C, XM_024451261.2:c.1026T>C, XM_024451261.1:c.1026T>C, XM_024451264.2:c.1026T>C, XM_024451264.1:c.1026T>C, XM_024451262.2:c.1026T>C, XM_024451262.1:c.1026T>C, NM_001243702.2:c.1026T>C, NM_001243702.1:c.1026T>C, XM_024451266.2:c.1026T>C, XM_024451266.1:c.1026T>C, NM_001243704.2:c.1026T>C, NM_001243704.1:c.1026T>C, NR_026569.1:n.1187T>C

Select item 14729593494.

rs1472959349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5292124 (GRCh38)
18:5292123 (GRCh37)
Canonical SPDI:: NC_000018.10:5292123:T:C
Gene:: ZBTB14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000018.10:g.5292124T>C, NC_000018.9:g.5292123T>C, NM_003409.5:c.84A>G, NM_003409.4:c.84A>G, NM_001143823.3:c.84A>G, NM_001143823.2:c.84A>G, XM_024451265.2:c.84A>G, XM_024451265.1:c.84A>G, XM_024451263.2:c.84A>G, XM_024451263.1:c.84A>G, XM_024451261.2:c.84A>G, XM_024451261.1:c.84A>G, XM_024451264.2:c.84A>G, XM_024451264.1:c.84A>G, XM_024451262.2:c.84A>G, XM_024451262.1:c.84A>G, NM_001243702.2:c.84A>G, NM_001243702.1:c.84A>G, XM_024451266.2:c.84A>G, XM_024451266.1:c.84A>G, NM_001243704.2:c.84A>G, NM_001243704.1:c.84A>G, NR_026569.1:n.245A>G

Select item 14687579955.

rs1468757995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:5291558 (GRCh38)
18:5291557 (GRCh37)
Canonical SPDI:: NC_000018.10:5291557:C:A,NC_000018.10:5291557:C:T
Gene:: ZBTB14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.5291558C>A, NC_000018.10:g.5291558C>T, NC_000018.9:g.5291557C>A, NC_000018.9:g.5291557C>T, NM_003409.5:c.650G>T, NM_003409.5:c.650G>A, NM_003409.4:c.650G>T, NM_003409.4:c.650G>A, NM_001143823.3:c.650G>T, NM_001143823.3:c.650G>A, NM_001143823.2:c.650G>T, NM_001143823.2:c.650G>A, XM_024451265.2:c.650G>T, XM_024451265.2:c.650G>A, XM_024451265.1:c.650G>T, XM_024451265.1:c.650G>A, XM_024451263.2:c.650G>T, XM_024451263.2:c.650G>A, XM_024451263.1:c.650G>T, XM_024451263.1:c.650G>A, XM_024451261.2:c.650G>T, XM_024451261.2:c.650G>A, XM_024451261.1:c.650G>T, XM_024451261.1:c.650G>A, XM_024451264.2:c.650G>T, XM_024451264.2:c.650G>A, XM_024451264.1:c.650G>T, XM_024451264.1:c.650G>A, XM_024451262.2:c.650G>T, XM_024451262.2:c.650G>A, XM_024451262.1:c.650G>T, XM_024451262.1:c.650G>A, NM_001243702.2:c.650G>T, NM_001243702.2:c.650G>A, NM_001243702.1:c.650G>T, NM_001243702.1:c.650G>A, XM_024451266.2:c.650G>T, XM_024451266.2:c.650G>A, XM_024451266.1:c.650G>T, XM_024451266.1:c.650G>A, NM_001243704.2:c.650G>T, NM_001243704.2:c.650G>A, NM_001243704.1:c.650G>T, NM_001243704.1:c.650G>A, NR_026569.1:n.811G>T, NR_026569.1:n.811G>A, NP_003400.2:p.Gly217Val, NP_003400.2:p.Gly217Asp, NP_001137295.1:p.Gly217Val, NP_001137295.1:p.Gly217Asp, XP_024307033.1:p.Gly217Val, XP_024307033.1:p.Gly217Asp, XP_024307031.1:p.Gly217Val, XP_024307031.1:p.Gly217Asp, XP_024307029.1:p.Gly217Val, XP_024307029.1:p.Gly217Asp, XP_024307032.1:p.Gly217Val, XP_024307032.1:p.Gly217Asp, XP_024307030.1:p.Gly217Val, XP_024307030.1:p.Gly217Asp, NP_001230631.1:p.Gly217Val, NP_001230631.1:p.Gly217Asp, XP_024307034.1:p.Gly217Val, XP_024307034.1:p.Gly217Asp, NP_001230633.1:p.Gly217Val, NP_001230633.1:p.Gly217Asp

Select item 14680627896.

rs1468062789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5291545 (GRCh38)
18:5291544 (GRCh37)
Canonical SPDI:: NC_000018.10:5291544:T:C
Gene:: ZBTB14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.5291545T>C, NC_000018.9:g.5291544T>C, NM_003409.5:c.663A>G, NM_003409.4:c.663A>G, NM_001143823.3:c.663A>G, NM_001143823.2:c.663A>G, XM_024451265.2:c.663A>G, XM_024451265.1:c.663A>G, XM_024451263.2:c.663A>G, XM_024451263.1:c.663A>G, XM_024451261.2:c.663A>G, XM_024451261.1:c.663A>G, XM_024451264.2:c.663A>G, XM_024451264.1:c.663A>G, XM_024451262.2:c.663A>G, XM_024451262.1:c.663A>G, NM_001243702.2:c.663A>G, NM_001243702.1:c.663A>G, XM_024451266.2:c.663A>G, XM_024451266.1:c.663A>G, NM_001243704.2:c.663A>G, NM_001243704.1:c.663A>G, NR_026569.1:n.824A>G

Select item 14663388657.

rs1466338865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5291927 (GRCh38)
18:5291926 (GRCh37)
Canonical SPDI:: NC_000018.10:5291926:T:C
Gene:: ZBTB14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5291927T>C, NC_000018.9:g.5291926T>C, NM_003409.5:c.281A>G, NM_003409.4:c.281A>G, NM_001143823.3:c.281A>G, NM_001143823.2:c.281A>G, XM_024451265.2:c.281A>G, XM_024451265.1:c.281A>G, XM_024451263.2:c.281A>G, XM_024451263.1:c.281A>G, XM_024451261.2:c.281A>G, XM_024451261.1:c.281A>G, XM_024451264.2:c.281A>G, XM_024451264.1:c.281A>G, XM_024451262.2:c.281A>G, XM_024451262.1:c.281A>G, NM_001243702.2:c.281A>G, NM_001243702.1:c.281A>G, XM_024451266.2:c.281A>G, XM_024451266.1:c.281A>G, NM_001243704.2:c.281A>G, NM_001243704.1:c.281A>G, NR_026569.1:n.442A>G, NP_003400.2:p.Tyr94Cys, NP_001137295.1:p.Tyr94Cys, XP_024307033.1:p.Tyr94Cys, XP_024307031.1:p.Tyr94Cys, XP_024307029.1:p.Tyr94Cys, XP_024307032.1:p.Tyr94Cys, XP_024307030.1:p.Tyr94Cys, NP_001230631.1:p.Tyr94Cys, XP_024307034.1:p.Tyr94Cys, NP_001230633.1:p.Tyr94Cys

Select item 14647678148.

rs1464767814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:5292204 (GRCh38)
18:5292203 (GRCh37)
Canonical SPDI:: NC_000018.10:5292203:C:A
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000018.10:g.5292204C>A, NC_000018.9:g.5292203C>A, NM_003409.5:c.4G>T, NM_003409.4:c.4G>T, NM_001143823.3:c.4G>T, NM_001143823.2:c.4G>T, XM_024451265.2:c.4G>T, XM_024451265.1:c.4G>T, XM_024451263.2:c.4G>T, XM_024451263.1:c.4G>T, XM_024451261.2:c.4G>T, XM_024451261.1:c.4G>T, XM_024451264.2:c.4G>T, XM_024451264.1:c.4G>T, XM_024451262.2:c.4G>T, XM_024451262.1:c.4G>T, NM_001243702.2:c.4G>T, NM_001243702.1:c.4G>T, XM_024451266.2:c.4G>T, XM_024451266.1:c.4G>T, NM_001243704.2:c.4G>T, NM_001243704.1:c.4G>T, NR_026569.1:n.165G>T, NP_003400.2:p.Glu2Ter, NP_001137295.1:p.Glu2Ter, XP_024307033.1:p.Glu2Ter, XP_024307031.1:p.Glu2Ter, XP_024307029.1:p.Glu2Ter, XP_024307032.1:p.Glu2Ter, XP_024307030.1:p.Glu2Ter, NP_001230631.1:p.Glu2Ter, XP_024307034.1:p.Glu2Ter, NP_001230633.1:p.Glu2Ter

Select item 14629923579.

rs1462992357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:5292147 (GRCh38)
18:5292146 (GRCh37)
Canonical SPDI:: NC_000018.10:5292146:G:A
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5292147G>A, NC_000018.9:g.5292146G>A, NM_003409.5:c.61C>T, NM_003409.4:c.61C>T, NM_001143823.3:c.61C>T, NM_001143823.2:c.61C>T, XM_024451265.2:c.61C>T, XM_024451265.1:c.61C>T, XM_024451263.2:c.61C>T, XM_024451263.1:c.61C>T, XM_024451261.2:c.61C>T, XM_024451261.1:c.61C>T, XM_024451264.2:c.61C>T, XM_024451264.1:c.61C>T, XM_024451262.2:c.61C>T, XM_024451262.1:c.61C>T, NM_001243702.2:c.61C>T, NM_001243702.1:c.61C>T, XM_024451266.2:c.61C>T, XM_024451266.1:c.61C>T, NM_001243704.2:c.61C>T, NM_001243704.1:c.61C>T, NR_026569.1:n.222C>T

Select item 146188837910.

rs1461888379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:5292096 (GRCh38)
18:5292095 (GRCh37)
Canonical SPDI:: NC_000018.10:5292095:T:A
Gene:: ZBTB14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5292096T>A, NC_000018.9:g.5292095T>A, NM_003409.5:c.112A>T, NM_003409.4:c.112A>T, NM_001143823.3:c.112A>T, NM_001143823.2:c.112A>T, XM_024451265.2:c.112A>T, XM_024451265.1:c.112A>T, XM_024451263.2:c.112A>T, XM_024451263.1:c.112A>T, XM_024451261.2:c.112A>T, XM_024451261.1:c.112A>T, XM_024451264.2:c.112A>T, XM_024451264.1:c.112A>T, XM_024451262.2:c.112A>T, XM_024451262.1:c.112A>T, NM_001243702.2:c.112A>T, NM_001243702.1:c.112A>T, XM_024451266.2:c.112A>T, XM_024451266.1:c.112A>T, NM_001243704.2:c.112A>T, NM_001243704.1:c.112A>T, NR_026569.1:n.273A>T, NP_003400.2:p.Ile38Phe, NP_001137295.1:p.Ile38Phe, XP_024307033.1:p.Ile38Phe, XP_024307031.1:p.Ile38Phe, XP_024307029.1:p.Ile38Phe, XP_024307032.1:p.Ile38Phe, XP_024307030.1:p.Ile38Phe, NP_001230631.1:p.Ile38Phe, XP_024307034.1:p.Ile38Phe, NP_001230633.1:p.Ile38Phe

Select item 146076943611.

rs1460769436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:5291195 (GRCh38)
18:5291194 (GRCh37)
Canonical SPDI:: NC_000018.10:5291194:C:A
Gene:: ZBTB14 (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.5291195C>A, NC_000018.9:g.5291194C>A, NM_003409.5:c.1013G>T, NM_003409.4:c.1013G>T, NM_001143823.3:c.1013G>T, NM_001143823.2:c.1013G>T, XM_024451265.2:c.1013G>T, XM_024451265.1:c.1013G>T, XM_024451263.2:c.1013G>T, XM_024451263.1:c.1013G>T, XM_024451261.2:c.1013G>T, XM_024451261.1:c.1013G>T, XM_024451264.2:c.1013G>T, XM_024451264.1:c.1013G>T, XM_024451262.2:c.1013G>T, XM_024451262.1:c.1013G>T, NM_001243702.2:c.1013G>T, NM_001243702.1:c.1013G>T, XM_024451266.2:c.1013G>T, XM_024451266.1:c.1013G>T, NM_001243704.2:c.1013G>T, NM_001243704.1:c.1013G>T, NR_026569.1:n.1174G>T, NP_003400.2:p.Cys338Phe, NP_001137295.1:p.Cys338Phe, XP_024307033.1:p.Cys338Phe, XP_024307031.1:p.Cys338Phe, XP_024307029.1:p.Cys338Phe, XP_024307032.1:p.Cys338Phe, XP_024307030.1:p.Cys338Phe, NP_001230631.1:p.Cys338Phe, XP_024307034.1:p.Cys338Phe, NP_001230633.1:p.Cys338Phe

Select item 146023329712.

rs1460233297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:5292184 (GRCh38)
18:5292183 (GRCh37)
Canonical SPDI:: NC_000018.10:5292183:A:G
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.5292184A>G, NC_000018.9:g.5292183A>G, NM_003409.5:c.24T>C, NM_003409.4:c.24T>C, NM_001143823.3:c.24T>C, NM_001143823.2:c.24T>C, XM_024451265.2:c.24T>C, XM_024451265.1:c.24T>C, XM_024451263.2:c.24T>C, XM_024451263.1:c.24T>C, XM_024451261.2:c.24T>C, XM_024451261.1:c.24T>C, XM_024451264.2:c.24T>C, XM_024451264.1:c.24T>C, XM_024451262.2:c.24T>C, XM_024451262.1:c.24T>C, NM_001243702.2:c.24T>C, NM_001243702.1:c.24T>C, XM_024451266.2:c.24T>C, XM_024451266.1:c.24T>C, NM_001243704.2:c.24T>C, NM_001243704.1:c.24T>C, NR_026569.1:n.185T>C

Select item 145937065013.

rs1459370650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:5291575 (GRCh38)
18:5291574 (GRCh37)
Canonical SPDI:: NC_000018.10:5291574:C:T
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.5291575C>T, NC_000018.9:g.5291574C>T, NM_003409.5:c.633G>A, NM_003409.4:c.633G>A, NM_001143823.3:c.633G>A, NM_001143823.2:c.633G>A, XM_024451265.2:c.633G>A, XM_024451265.1:c.633G>A, XM_024451263.2:c.633G>A, XM_024451263.1:c.633G>A, XM_024451261.2:c.633G>A, XM_024451261.1:c.633G>A, XM_024451264.2:c.633G>A, XM_024451264.1:c.633G>A, XM_024451262.2:c.633G>A, XM_024451262.1:c.633G>A, NM_001243702.2:c.633G>A, NM_001243702.1:c.633G>A, XM_024451266.2:c.633G>A, XM_024451266.1:c.633G>A, NM_001243704.2:c.633G>A, NM_001243704.1:c.633G>A, NR_026569.1:n.794G>A

Select item 145761231614.

rs1457612316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:5291030 (GRCh38)
18:5291029 (GRCh37)
Canonical SPDI:: NC_000018.10:5291029:G:A
Gene:: ZBTB14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.5291030G>A, NC_000018.9:g.5291029G>A, NM_003409.5:c.1178C>T, NM_003409.4:c.1178C>T, NM_001143823.3:c.1178C>T, NM_001143823.2:c.1178C>T, XM_024451265.2:c.1178C>T, XM_024451265.1:c.1178C>T, XM_024451263.2:c.1178C>T, XM_024451263.1:c.1178C>T, XM_024451261.2:c.1178C>T, XM_024451261.1:c.1178C>T, XM_024451264.2:c.1178C>T, XM_024451264.1:c.1178C>T, XM_024451262.2:c.1178C>T, XM_024451262.1:c.1178C>T, NM_001243702.2:c.1178C>T, NM_001243702.1:c.1178C>T, XM_024451266.2:c.1178C>T, XM_024451266.1:c.1178C>T, NM_001243704.2:c.1178C>T, NM_001243704.1:c.1178C>T, NR_026569.1:n.1339C>T, NP_003400.2:p.Ser393Phe, NP_001137295.1:p.Ser393Phe, XP_024307033.1:p.Ser393Phe, XP_024307031.1:p.Ser393Phe, XP_024307029.1:p.Ser393Phe, XP_024307032.1:p.Ser393Phe, XP_024307030.1:p.Ser393Phe, NP_001230631.1:p.Ser393Phe, XP_024307034.1:p.Ser393Phe, NP_001230633.1:p.Ser393Phe

Select item 145451755915.

rs1454517559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:5291449 (GRCh38)
18:5291448 (GRCh37)
Canonical SPDI:: NC_000018.10:5291448:T:C,NC_000018.10:5291448:T:G
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.5291449T>C, NC_000018.10:g.5291449T>G, NC_000018.9:g.5291448T>C, NC_000018.9:g.5291448T>G, NM_003409.5:c.759A>G, NM_003409.5:c.759A>C, NM_003409.4:c.759A>G, NM_003409.4:c.759A>C, NM_001143823.3:c.759A>G, NM_001143823.3:c.759A>C, NM_001143823.2:c.759A>G, NM_001143823.2:c.759A>C, XM_024451265.2:c.759A>G, XM_024451265.2:c.759A>C, XM_024451265.1:c.759A>G, XM_024451265.1:c.759A>C, XM_024451263.2:c.759A>G, XM_024451263.2:c.759A>C, XM_024451263.1:c.759A>G, XM_024451263.1:c.759A>C, XM_024451261.2:c.759A>G, XM_024451261.2:c.759A>C, XM_024451261.1:c.759A>G, XM_024451261.1:c.759A>C, XM_024451264.2:c.759A>G, XM_024451264.2:c.759A>C, XM_024451264.1:c.759A>G, XM_024451264.1:c.759A>C, XM_024451262.2:c.759A>G, XM_024451262.2:c.759A>C, XM_024451262.1:c.759A>G, XM_024451262.1:c.759A>C, NM_001243702.2:c.759A>G, NM_001243702.2:c.759A>C, NM_001243702.1:c.759A>G, NM_001243702.1:c.759A>C, XM_024451266.2:c.759A>G, XM_024451266.2:c.759A>C, XM_024451266.1:c.759A>G, XM_024451266.1:c.759A>C, NM_001243704.2:c.759A>G, NM_001243704.2:c.759A>C, NM_001243704.1:c.759A>G, NM_001243704.1:c.759A>C, NR_026569.1:n.920A>G, NR_026569.1:n.920A>C

Select item 145438069316.

rs1454380693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:5290936 (GRCh38)
18:5290935 (GRCh37)
Canonical SPDI:: NC_000018.10:5290935:C:T
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5290936C>T, NC_000018.9:g.5290935C>T, NM_003409.5:c.1272G>A, NM_003409.4:c.1272G>A, NM_001143823.3:c.1272G>A, NM_001143823.2:c.1272G>A, XM_024451265.2:c.1272G>A, XM_024451265.1:c.1272G>A, XM_024451263.2:c.1272G>A, XM_024451263.1:c.1272G>A, XM_024451261.2:c.1272G>A, XM_024451261.1:c.1272G>A, XM_024451264.2:c.1272G>A, XM_024451264.1:c.1272G>A, XM_024451262.2:c.1272G>A, XM_024451262.1:c.1272G>A, NM_001243702.2:c.1272G>A, NM_001243702.1:c.1272G>A, XM_024451266.2:c.1272G>A, XM_024451266.1:c.1272G>A, NM_001243704.2:c.1272G>A, NM_001243704.1:c.1272G>A, NR_026569.1:n.1433G>A

Select item 145318083917.

rs1453180839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:5290907 (GRCh38)
18:5290906 (GRCh37)
Canonical SPDI:: NC_000018.10:5290906:G:A
Gene:: ZBTB14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.5290907G>A, NC_000018.9:g.5290906G>A, NM_003409.5:c.1301C>T, NM_003409.4:c.1301C>T, NM_001143823.3:c.1301C>T, NM_001143823.2:c.1301C>T, XM_024451265.2:c.1301C>T, XM_024451265.1:c.1301C>T, XM_024451263.2:c.1301C>T, XM_024451263.1:c.1301C>T, XM_024451261.2:c.1301C>T, XM_024451261.1:c.1301C>T, XM_024451264.2:c.1301C>T, XM_024451264.1:c.1301C>T, XM_024451262.2:c.1301C>T, XM_024451262.1:c.1301C>T, NM_001243702.2:c.1301C>T, NM_001243702.1:c.1301C>T, XM_024451266.2:c.1301C>T, XM_024451266.1:c.1301C>T, NM_001243704.2:c.1301C>T, NM_001243704.1:c.1301C>T, NR_026569.1:n.1462C>T, NP_003400.2:p.Ala434Val, NP_001137295.1:p.Ala434Val, XP_024307033.1:p.Ala434Val, XP_024307031.1:p.Ala434Val, XP_024307029.1:p.Ala434Val, XP_024307032.1:p.Ala434Val, XP_024307030.1:p.Ala434Val, NP_001230631.1:p.Ala434Val, XP_024307034.1:p.Ala434Val, NP_001230633.1:p.Ala434Val

Select item 144695903818.

rs1446959038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:5291239 (GRCh38)
18:5291238 (GRCh37)
Canonical SPDI:: NC_000018.10:5291238:G:A
Gene:: ZBTB14 (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=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5291239G>A, NC_000018.9:g.5291238G>A, NM_003409.5:c.969C>T, NM_003409.4:c.969C>T, NM_001143823.3:c.969C>T, NM_001143823.2:c.969C>T, XM_024451265.2:c.969C>T, XM_024451265.1:c.969C>T, XM_024451263.2:c.969C>T, XM_024451263.1:c.969C>T, XM_024451261.2:c.969C>T, XM_024451261.1:c.969C>T, XM_024451264.2:c.969C>T, XM_024451264.1:c.969C>T, XM_024451262.2:c.969C>T, XM_024451262.1:c.969C>T, NM_001243702.2:c.969C>T, NM_001243702.1:c.969C>T, XM_024451266.2:c.969C>T, XM_024451266.1:c.969C>T, NM_001243704.2:c.969C>T, NM_001243704.1:c.969C>T, NR_026569.1:n.1130C>T

Select item 144538766319.

rs1445387663 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 18:5291364 (GRCh38)
18:5291363 (GRCh37)
Canonical SPDI:: NC_000018.10:5291360:CACAC:CAC
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.5291362AC[1], NC_000018.9:g.5291361AC[1], NM_003409.5:c.846_847del, NM_003409.4:c.846_847del, NM_001143823.3:c.846_847del, NM_001143823.2:c.846_847del, XM_024451265.2:c.846_847del, XM_024451265.1:c.846_847del, XM_024451263.2:c.846_847del, XM_024451263.1:c.846_847del, XM_024451261.2:c.846_847del, XM_024451261.1:c.846_847del, XM_024451264.2:c.846_847del, XM_024451264.1:c.846_847del, XM_024451262.2:c.846_847del, XM_024451262.1:c.846_847del, NM_001243702.2:c.846_847del, NM_001243702.1:c.846_847del, XM_024451266.2:c.846_847del, XM_024451266.1:c.846_847del, NM_001243704.2:c.846_847del, NM_001243704.1:c.846_847del, NR_026569.1:n.1005TG[1], NP_003400.2:p.Cys282fs, NP_001137295.1:p.Cys282fs, XP_024307033.1:p.Cys282fs, XP_024307031.1:p.Cys282fs, XP_024307029.1:p.Cys282fs, XP_024307032.1:p.Cys282fs, XP_024307030.1:p.Cys282fs, NP_001230631.1:p.Cys282fs, XP_024307034.1:p.Cys282fs, NP_001230633.1:p.Cys282fs

Select item 144468358720.

rs1444683587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5291611 (GRCh38)
18:5291610 (GRCh37)
Canonical SPDI:: NC_000018.10:5291610:T:C
Gene:: ZBTB14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000106/2 (TOMMO)
HGVS:: NC_000018.10:g.5291611T>C, NC_000018.9:g.5291610T>C, NM_003409.5:c.597A>G, NM_003409.4:c.597A>G, NM_001143823.3:c.597A>G, NM_001143823.2:c.597A>G, XM_024451265.2:c.597A>G, XM_024451265.1:c.597A>G, XM_024451263.2:c.597A>G, XM_024451263.1:c.597A>G, XM_024451261.2:c.597A>G, XM_024451261.1:c.597A>G, XM_024451264.2:c.597A>G, XM_024451264.1:c.597A>G, XM_024451262.2:c.597A>G, XM_024451262.1:c.597A>G, NM_001243702.2:c.597A>G, NM_001243702.1:c.597A>G, XM_024451266.2:c.597A>G, XM_024451266.1:c.597A>G, NM_001243704.2:c.597A>G, NM_001243704.1:c.597A>G, NR_026569.1:n.758A>G

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Items: 1 to 20 of 321

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