SNP Links for Protein (Select 751368086) - SNP

Links from Protein

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Select item 14889703941.

rs1488970394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:28245379 (GRCh38)
6:28213157 (GRCh37)
Canonical SPDI:: NC_000006.12:28245378:C:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28245379C>G, NC_000006.11:g.28213157C>G, NM_019110.5:c.1375G>C, NM_019110.4:c.1375G>C, NM_019110.3:c.1375G>C, XM_011514588.4:c.1288G>C, XM_011514588.3:c.1288G>C, XM_011514588.2:c.1288G>C, XM_011514588.1:c.1288G>C, XM_005249095.4:c.1375G>C, XM_005249095.3:c.1375G>C, XM_005249095.2:c.1375G>C, XM_005249095.1:c.1375G>C, XM_005249098.4:c.1066G>C, XM_005249098.3:c.1066G>C, XM_005249098.2:c.1066G>C, XM_005249098.1:c.1066G>C, XM_011514589.3:c.910G>C, XM_011514589.2:c.910G>C, XM_011514589.1:c.910G>C, NM_001304506.2:c.910G>C, NM_001304506.1:c.910G>C, XM_047418755.1:c.910G>C, XM_047418754.1:c.964G>C, XM_047418753.1:c.910G>C, NP_061983.2:p.Val459Leu, XP_011512890.1:p.Val430Leu, XP_005249152.1:p.Val459Leu, XP_005249155.1:p.Val356Leu, XP_011512891.1:p.Val304Leu, NP_001291435.1:p.Val304Leu, XP_047274711.1:p.Val304Leu, XP_047274710.1:p.Val322Leu, XP_047274709.1:p.Val304Leu

Select item 14882116582.

rs1488211658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:28245277 (GRCh38)
6:28213055 (GRCh37)
Canonical SPDI:: NC_000006.12:28245276:C:G,NC_000006.12:28245276:C:T
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.28245277C>G, NC_000006.12:g.28245277C>T, NC_000006.11:g.28213055C>G, NC_000006.11:g.28213055C>T, NM_019110.5:c.1477G>C, NM_019110.5:c.1477G>A, NM_019110.4:c.1477G>C, NM_019110.4:c.1477G>A, NM_019110.3:c.1477G>C, NM_019110.3:c.1477G>A, XM_011514588.4:c.1390G>C, XM_011514588.4:c.1390G>A, XM_011514588.3:c.1390G>C, XM_011514588.3:c.1390G>A, XM_011514588.2:c.1390G>C, XM_011514588.2:c.1390G>A, XM_011514588.1:c.1390G>C, XM_011514588.1:c.1390G>A, XM_005249095.4:c.1477G>C, XM_005249095.4:c.1477G>A, XM_005249095.3:c.1477G>C, XM_005249095.3:c.1477G>A, XM_005249095.2:c.1477G>C, XM_005249095.2:c.1477G>A, XM_005249095.1:c.1477G>C, XM_005249095.1:c.1477G>A, XM_005249098.4:c.1168G>C, XM_005249098.4:c.1168G>A, XM_005249098.3:c.1168G>C, XM_005249098.3:c.1168G>A, XM_005249098.2:c.1168G>C, XM_005249098.2:c.1168G>A, XM_005249098.1:c.1168G>C, XM_005249098.1:c.1168G>A, XM_011514589.3:c.1012G>C, XM_011514589.3:c.1012G>A, XM_011514589.2:c.1012G>C, XM_011514589.2:c.1012G>A, XM_011514589.1:c.1012G>C, XM_011514589.1:c.1012G>A, NM_001304506.2:c.1012G>C, NM_001304506.2:c.1012G>A, NM_001304506.1:c.1012G>C, NM_001304506.1:c.1012G>A, XM_047418755.1:c.1012G>C, XM_047418755.1:c.1012G>A, XM_047418754.1:c.1066G>C, XM_047418754.1:c.1066G>A, XM_047418753.1:c.1012G>C, XM_047418753.1:c.1012G>A, NP_061983.2:p.Glu493Gln, NP_061983.2:p.Glu493Lys, XP_011512890.1:p.Glu464Gln, XP_011512890.1:p.Glu464Lys, XP_005249152.1:p.Glu493Gln, XP_005249152.1:p.Glu493Lys, XP_005249155.1:p.Glu390Gln, XP_005249155.1:p.Glu390Lys, XP_011512891.1:p.Glu338Gln, XP_011512891.1:p.Glu338Lys, NP_001291435.1:p.Glu338Gln, NP_001291435.1:p.Glu338Lys, XP_047274711.1:p.Glu338Gln, XP_047274711.1:p.Glu338Lys, XP_047274710.1:p.Glu356Gln, XP_047274710.1:p.Glu356Lys, XP_047274709.1:p.Glu338Gln, XP_047274709.1:p.Glu338Lys

Select item 14843731933.

rs1484373193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:28249746 (GRCh38)
6:28217524 (GRCh37)
Canonical SPDI:: NC_000006.12:28249745:T:A
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.28249746T>A, NC_000006.11:g.28217524T>A, NM_019110.5:c.512A>T, NM_019110.4:c.512A>T, NM_019110.3:c.512A>T, XM_011514588.4:c.425A>T, XM_011514588.3:c.425A>T, XM_011514588.2:c.425A>T, XM_011514588.1:c.425A>T, XM_005249095.4:c.512A>T, XM_005249095.3:c.512A>T, XM_005249095.2:c.512A>T, XM_005249095.1:c.512A>T, XM_005249098.4:c.203A>T, XM_005249098.3:c.203A>T, XM_005249098.2:c.203A>T, XM_005249098.1:c.203A>T, XM_011514589.3:c.47A>T, XM_011514589.2:c.47A>T, XM_011514589.1:c.47A>T, NM_001304506.2:c.47A>T, NM_001304506.1:c.47A>T, XM_047418755.1:c.47A>T, XM_047418754.1:c.101A>T, XM_047418753.1:c.47A>T, NP_061983.2:p.Gln171Leu, XP_011512890.1:p.Gln142Leu, XP_005249152.1:p.Gln171Leu, XP_005249155.1:p.Gln68Leu, XP_011512891.1:p.Gln16Leu, NP_001291435.1:p.Gln16Leu, XP_047274711.1:p.Gln16Leu, XP_047274710.1:p.Gln34Leu, XP_047274709.1:p.Gln16Leu

Select item 14799794144.

rs1479979414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:28245207 (GRCh38)
6:28212985 (GRCh37)
Canonical SPDI:: NC_000006.12:28245206:T:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28245207T>G, NC_000006.11:g.28212985T>G, NM_019110.5:c.1547A>C, NM_019110.4:c.1547A>C, NM_019110.3:c.1547A>C, XM_011514588.4:c.1460A>C, XM_011514588.3:c.1460A>C, XM_011514588.2:c.1460A>C, XM_011514588.1:c.1460A>C, XM_005249095.4:c.1547A>C, XM_005249095.3:c.1547A>C, XM_005249095.2:c.1547A>C, XM_005249095.1:c.1547A>C, XM_005249098.4:c.1238A>C, XM_005249098.3:c.1238A>C, XM_005249098.2:c.1238A>C, XM_005249098.1:c.1238A>C, XM_011514589.3:c.1082A>C, XM_011514589.2:c.1082A>C, XM_011514589.1:c.1082A>C, NM_001304506.2:c.1082A>C, NM_001304506.1:c.1082A>C, XM_047418755.1:c.1082A>C, XM_047418754.1:c.1136A>C, XM_047418753.1:c.1082A>C, NP_061983.2:p.Gln516Pro, XP_011512890.1:p.Gln487Pro, XP_005249152.1:p.Gln516Pro, XP_005249155.1:p.Gln413Pro, XP_011512891.1:p.Gln361Pro, NP_001291435.1:p.Gln361Pro, XP_047274711.1:p.Gln361Pro, XP_047274710.1:p.Gln379Pro, XP_047274709.1:p.Gln361Pro

Select item 14773141785.

rs1477314178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28248077 (GRCh38)
6:28215855 (GRCh37)
Canonical SPDI:: NC_000006.12:28248076:G:A
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28248077G>A, NC_000006.11:g.28215855G>A, NM_019110.5:c.644C>T, NM_019110.4:c.644C>T, NM_019110.3:c.644C>T, XM_011514588.4:c.557C>T, XM_011514588.3:c.557C>T, XM_011514588.2:c.557C>T, XM_011514588.1:c.557C>T, XM_005249095.4:c.644C>T, XM_005249095.3:c.644C>T, XM_005249095.2:c.644C>T, XM_005249095.1:c.644C>T, XM_005249098.4:c.335C>T, XM_005249098.3:c.335C>T, XM_005249098.2:c.335C>T, XM_005249098.1:c.335C>T, XM_011514589.3:c.179C>T, XM_011514589.2:c.179C>T, XM_011514589.1:c.179C>T, NM_001304506.2:c.179C>T, NM_001304506.1:c.179C>T, XM_047418755.1:c.179C>T, XM_047418754.1:c.233C>T, XM_047418753.1:c.179C>T, NP_061983.2:p.Pro215Leu, XP_011512890.1:p.Pro186Leu, XP_005249152.1:p.Pro215Leu, XP_005249155.1:p.Pro112Leu, XP_011512891.1:p.Pro60Leu, NP_001291435.1:p.Pro60Leu, XP_047274711.1:p.Pro60Leu, XP_047274710.1:p.Pro78Leu, XP_047274709.1:p.Pro60Leu

Select item 14772216116.

rs1477221611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:28245504 (GRCh38)
6:28213282 (GRCh37)
Canonical SPDI:: NC_000006.12:28245503:C:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28245504C>G, NC_000006.11:g.28213282C>G, NM_019110.5:c.1250G>C, NM_019110.4:c.1250G>C, NM_019110.3:c.1250G>C, XM_011514588.4:c.1163G>C, XM_011514588.3:c.1163G>C, XM_011514588.2:c.1163G>C, XM_011514588.1:c.1163G>C, XM_005249095.4:c.1250G>C, XM_005249095.3:c.1250G>C, XM_005249095.2:c.1250G>C, XM_005249095.1:c.1250G>C, XM_005249098.4:c.941G>C, XM_005249098.3:c.941G>C, XM_005249098.2:c.941G>C, XM_005249098.1:c.941G>C, XM_011514589.3:c.785G>C, XM_011514589.2:c.785G>C, XM_011514589.1:c.785G>C, NM_001304506.2:c.785G>C, NM_001304506.1:c.785G>C, XM_047418755.1:c.785G>C, XM_047418754.1:c.839G>C, XM_047418753.1:c.785G>C, NP_061983.2:p.Cys417Ser, XP_011512890.1:p.Cys388Ser, XP_005249152.1:p.Cys417Ser, XP_005249155.1:p.Cys314Ser, XP_011512891.1:p.Cys262Ser, NP_001291435.1:p.Cys262Ser, XP_047274711.1:p.Cys262Ser, XP_047274710.1:p.Cys280Ser, XP_047274709.1:p.Cys262Ser

Select item 14724196617.

rs1472419661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:28245832 (GRCh38)
6:28213610 (GRCh37)
Canonical SPDI:: NC_000006.12:28245831:G:C,NC_000006.12:28245831:G:T
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28245832G>C, NC_000006.12:g.28245832G>T, NC_000006.11:g.28213610G>C, NC_000006.11:g.28213610G>T, NM_019110.5:c.922C>G, NM_019110.5:c.922C>A, NM_019110.4:c.922C>G, NM_019110.4:c.922C>A, NM_019110.3:c.922C>G, NM_019110.3:c.922C>A, XM_011514588.4:c.835C>G, XM_011514588.4:c.835C>A, XM_011514588.3:c.835C>G, XM_011514588.3:c.835C>A, XM_011514588.2:c.835C>G, XM_011514588.2:c.835C>A, XM_011514588.1:c.835C>G, XM_011514588.1:c.835C>A, XM_005249095.4:c.922C>G, XM_005249095.4:c.922C>A, XM_005249095.3:c.922C>G, XM_005249095.3:c.922C>A, XM_005249095.2:c.922C>G, XM_005249095.2:c.922C>A, XM_005249095.1:c.922C>G, XM_005249095.1:c.922C>A, XM_005249098.4:c.613C>G, XM_005249098.4:c.613C>A, XM_005249098.3:c.613C>G, XM_005249098.3:c.613C>A, XM_005249098.2:c.613C>G, XM_005249098.2:c.613C>A, XM_005249098.1:c.613C>G, XM_005249098.1:c.613C>A, XM_011514589.3:c.457C>G, XM_011514589.3:c.457C>A, XM_011514589.2:c.457C>G, XM_011514589.2:c.457C>A, XM_011514589.1:c.457C>G, XM_011514589.1:c.457C>A, NM_001304506.2:c.457C>G, NM_001304506.2:c.457C>A, NM_001304506.1:c.457C>G, NM_001304506.1:c.457C>A, XM_047418755.1:c.457C>G, XM_047418755.1:c.457C>A, XM_047418754.1:c.511C>G, XM_047418754.1:c.511C>A, XM_047418753.1:c.457C>G, XM_047418753.1:c.457C>A, NP_061983.2:p.Gln308Glu, NP_061983.2:p.Gln308Lys, XP_011512890.1:p.Gln279Glu, XP_011512890.1:p.Gln279Lys, XP_005249152.1:p.Gln308Glu, XP_005249152.1:p.Gln308Lys, XP_005249155.1:p.Gln205Glu, XP_005249155.1:p.Gln205Lys, XP_011512891.1:p.Gln153Glu, XP_011512891.1:p.Gln153Lys, NP_001291435.1:p.Gln153Glu, NP_001291435.1:p.Gln153Lys, XP_047274711.1:p.Gln153Glu, XP_047274711.1:p.Gln153Lys, XP_047274710.1:p.Gln171Glu, XP_047274710.1:p.Gln171Lys, XP_047274709.1:p.Gln153Glu, XP_047274709.1:p.Gln153Lys

Select item 14696724378.

rs1469672437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28249691 (GRCh38)
6:28217469 (GRCh37)
Canonical SPDI:: NC_000006.12:28249690:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.28249691A>G, NC_000006.11:g.28217469A>G, NM_019110.5:c.567T>C, NM_019110.4:c.567T>C, NM_019110.3:c.567T>C, XM_011514588.4:c.480T>C, XM_011514588.3:c.480T>C, XM_011514588.2:c.480T>C, XM_011514588.1:c.480T>C, XM_005249095.4:c.567T>C, XM_005249095.3:c.567T>C, XM_005249095.2:c.567T>C, XM_005249095.1:c.567T>C, XM_005249098.4:c.258T>C, XM_005249098.3:c.258T>C, XM_005249098.2:c.258T>C, XM_005249098.1:c.258T>C, XM_011514589.3:c.102T>C, XM_011514589.2:c.102T>C, XM_011514589.1:c.102T>C, NM_001304506.2:c.102T>C, NM_001304506.1:c.102T>C, XM_047418755.1:c.102T>C, XM_047418754.1:c.156T>C, XM_047418753.1:c.102T>C

Select item 14682008549.

rs1468200854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28245251 (GRCh38)
6:28213029 (GRCh37)
Canonical SPDI:: NC_000006.12:28245250:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.28245251A>G, NC_000006.11:g.28213029A>G, NM_019110.5:c.1503T>C, NM_019110.4:c.1503T>C, NM_019110.3:c.1503T>C, XM_011514588.4:c.1416T>C, XM_011514588.3:c.1416T>C, XM_011514588.2:c.1416T>C, XM_011514588.1:c.1416T>C, XM_005249095.4:c.1503T>C, XM_005249095.3:c.1503T>C, XM_005249095.2:c.1503T>C, XM_005249095.1:c.1503T>C, XM_005249098.4:c.1194T>C, XM_005249098.3:c.1194T>C, XM_005249098.2:c.1194T>C, XM_005249098.1:c.1194T>C, XM_011514589.3:c.1038T>C, XM_011514589.2:c.1038T>C, XM_011514589.1:c.1038T>C, NM_001304506.2:c.1038T>C, NM_001304506.1:c.1038T>C, XM_047418755.1:c.1038T>C, XM_047418754.1:c.1092T>C, XM_047418753.1:c.1038T>C

Select item 146647021210.

rs1466470212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28248114 (GRCh38)
6:28215892 (GRCh37)
Canonical SPDI:: NC_000006.12:28248113:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000009/1 (ExAC)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.28248114A>G, NC_000006.11:g.28215892A>G, NM_019110.5:c.607T>C, NM_019110.4:c.607T>C, NM_019110.3:c.607T>C, XM_011514588.4:c.520T>C, XM_011514588.3:c.520T>C, XM_011514588.2:c.520T>C, XM_011514588.1:c.520T>C, XM_005249095.4:c.607T>C, XM_005249095.3:c.607T>C, XM_005249095.2:c.607T>C, XM_005249095.1:c.607T>C, XM_005249098.4:c.298T>C, XM_005249098.3:c.298T>C, XM_005249098.2:c.298T>C, XM_005249098.1:c.298T>C, XM_011514589.3:c.142T>C, XM_011514589.2:c.142T>C, XM_011514589.1:c.142T>C, NM_001304506.2:c.142T>C, NM_001304506.1:c.142T>C, XM_047418755.1:c.142T>C, XM_047418754.1:c.196T>C, XM_047418753.1:c.142T>C, NP_061983.2:p.Cys203Arg, XP_011512890.1:p.Cys174Arg, XP_005249152.1:p.Cys203Arg, XP_005249155.1:p.Cys100Arg, XP_011512891.1:p.Cys48Arg, NP_001291435.1:p.Cys48Arg, XP_047274711.1:p.Cys48Arg, XP_047274710.1:p.Cys66Arg, XP_047274709.1:p.Cys48Arg

Select item 146548560411.

rs1465485604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28246977 (GRCh38)
6:28214755 (GRCh37)
Canonical SPDI:: NC_000006.12:28246976:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.28246977A>G, NC_000006.11:g.28214755A>G, NM_019110.5:c.770T>C, NM_019110.4:c.770T>C, NM_019110.3:c.770T>C, XM_011514588.4:c.683T>C, XM_011514588.3:c.683T>C, XM_011514588.2:c.683T>C, XM_011514588.1:c.683T>C, XM_005249095.4:c.770T>C, XM_005249095.3:c.770T>C, XM_005249095.2:c.770T>C, XM_005249095.1:c.770T>C, XM_005249098.4:c.461T>C, XM_005249098.3:c.461T>C, XM_005249098.2:c.461T>C, XM_005249098.1:c.461T>C, XM_011514589.3:c.305T>C, XM_011514589.2:c.305T>C, XM_011514589.1:c.305T>C, NM_001304506.2:c.305T>C, NM_001304506.1:c.305T>C, XM_047418755.1:c.305T>C, XM_047418754.1:c.359T>C, XM_047418753.1:c.305T>C, NP_061983.2:p.Val257Ala, XP_011512890.1:p.Val228Ala, XP_005249152.1:p.Val257Ala, XP_005249155.1:p.Val154Ala, XP_011512891.1:p.Val102Ala, NP_001291435.1:p.Val102Ala, XP_047274711.1:p.Val102Ala, XP_047274710.1:p.Val120Ala, XP_047274709.1:p.Val102Ala

Select item 146203630112.

rs1462036301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28245645 (GRCh38)
6:28213423 (GRCh37)
Canonical SPDI:: NC_000006.12:28245644:T:C
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28245645T>C, NC_000006.11:g.28213423T>C, NM_019110.5:c.1109A>G, NM_019110.4:c.1109A>G, NM_019110.3:c.1109A>G, XM_011514588.4:c.1022A>G, XM_011514588.3:c.1022A>G, XM_011514588.2:c.1022A>G, XM_011514588.1:c.1022A>G, XM_005249095.4:c.1109A>G, XM_005249095.3:c.1109A>G, XM_005249095.2:c.1109A>G, XM_005249095.1:c.1109A>G, XM_005249098.4:c.800A>G, XM_005249098.3:c.800A>G, XM_005249098.2:c.800A>G, XM_005249098.1:c.800A>G, XM_011514589.3:c.644A>G, XM_011514589.2:c.644A>G, XM_011514589.1:c.644A>G, NM_001304506.2:c.644A>G, NM_001304506.1:c.644A>G, XM_047418755.1:c.644A>G, XM_047418754.1:c.698A>G, XM_047418753.1:c.644A>G, NP_061983.2:p.His370Arg, XP_011512890.1:p.His341Arg, XP_005249152.1:p.His370Arg, XP_005249155.1:p.His267Arg, XP_011512891.1:p.His215Arg, NP_001291435.1:p.His215Arg, XP_047274711.1:p.His215Arg, XP_047274710.1:p.His233Arg, XP_047274709.1:p.His215Arg

Select item 146188483013.

rs1461884830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:28245762 (GRCh38)
6:28213540 (GRCh37)
Canonical SPDI:: NC_000006.12:28245761:T:A,NC_000006.12:28245761:T:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28245762T>A, NC_000006.12:g.28245762T>G, NC_000006.11:g.28213540T>A, NC_000006.11:g.28213540T>G, NM_019110.5:c.992A>T, NM_019110.5:c.992A>C, NM_019110.4:c.992A>T, NM_019110.4:c.992A>C, NM_019110.3:c.992A>T, NM_019110.3:c.992A>C, XM_011514588.4:c.905A>T, XM_011514588.4:c.905A>C, XM_011514588.3:c.905A>T, XM_011514588.3:c.905A>C, XM_011514588.2:c.905A>T, XM_011514588.2:c.905A>C, XM_011514588.1:c.905A>T, XM_011514588.1:c.905A>C, XM_005249095.4:c.992A>T, XM_005249095.4:c.992A>C, XM_005249095.3:c.992A>T, XM_005249095.3:c.992A>C, XM_005249095.2:c.992A>T, XM_005249095.2:c.992A>C, XM_005249095.1:c.992A>T, XM_005249095.1:c.992A>C, XM_005249098.4:c.683A>T, XM_005249098.4:c.683A>C, XM_005249098.3:c.683A>T, XM_005249098.3:c.683A>C, XM_005249098.2:c.683A>T, XM_005249098.2:c.683A>C, XM_005249098.1:c.683A>T, XM_005249098.1:c.683A>C, XM_011514589.3:c.527A>T, XM_011514589.3:c.527A>C, XM_011514589.2:c.527A>T, XM_011514589.2:c.527A>C, XM_011514589.1:c.527A>T, XM_011514589.1:c.527A>C, NM_001304506.2:c.527A>T, NM_001304506.2:c.527A>C, NM_001304506.1:c.527A>T, NM_001304506.1:c.527A>C, XM_047418755.1:c.527A>T, XM_047418755.1:c.527A>C, XM_047418754.1:c.581A>T, XM_047418754.1:c.581A>C, XM_047418753.1:c.527A>T, XM_047418753.1:c.527A>C, NP_061983.2:p.Gln331Leu, NP_061983.2:p.Gln331Pro, XP_011512890.1:p.Gln302Leu, XP_011512890.1:p.Gln302Pro, XP_005249152.1:p.Gln331Leu, XP_005249152.1:p.Gln331Pro, XP_005249155.1:p.Gln228Leu, XP_005249155.1:p.Gln228Pro, XP_011512891.1:p.Gln176Leu, XP_011512891.1:p.Gln176Pro, NP_001291435.1:p.Gln176Leu, NP_001291435.1:p.Gln176Pro, XP_047274711.1:p.Gln176Leu, XP_047274711.1:p.Gln176Pro, XP_047274710.1:p.Gln194Leu, XP_047274710.1:p.Gln194Pro, XP_047274709.1:p.Gln176Leu, XP_047274709.1:p.Gln176Pro

Select item 145610748214.

rs1456107482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28247060 (GRCh38)
6:28214838 (GRCh37)
Canonical SPDI:: NC_000006.12:28247059:G:A
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28247060G>A, NC_000006.11:g.28214838G>A, NM_019110.5:c.687C>T, NM_019110.4:c.687C>T, NM_019110.3:c.687C>T, XM_011514588.4:c.600C>T, XM_011514588.3:c.600C>T, XM_011514588.2:c.600C>T, XM_011514588.1:c.600C>T, XM_005249095.4:c.687C>T, XM_005249095.3:c.687C>T, XM_005249095.2:c.687C>T, XM_005249095.1:c.687C>T, XM_005249098.4:c.378C>T, XM_005249098.3:c.378C>T, XM_005249098.2:c.378C>T, XM_005249098.1:c.378C>T, XM_011514589.3:c.222C>T, XM_011514589.2:c.222C>T, XM_011514589.1:c.222C>T, NM_001304506.2:c.222C>T, NM_001304506.1:c.222C>T, XM_047418755.1:c.222C>T, XM_047418754.1:c.276C>T, XM_047418753.1:c.222C>T

Select item 145019197615.

rs1450191976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28245533 (GRCh38)
6:28213311 (GRCh37)
Canonical SPDI:: NC_000006.12:28245532:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28245533A>G, NC_000006.11:g.28213311A>G, NM_019110.5:c.1221T>C, NM_019110.4:c.1221T>C, NM_019110.3:c.1221T>C, XM_011514588.4:c.1134T>C, XM_011514588.3:c.1134T>C, XM_011514588.2:c.1134T>C, XM_011514588.1:c.1134T>C, XM_005249095.4:c.1221T>C, XM_005249095.3:c.1221T>C, XM_005249095.2:c.1221T>C, XM_005249095.1:c.1221T>C, XM_005249098.4:c.912T>C, XM_005249098.3:c.912T>C, XM_005249098.2:c.912T>C, XM_005249098.1:c.912T>C, XM_011514589.3:c.756T>C, XM_011514589.2:c.756T>C, XM_011514589.1:c.756T>C, NM_001304506.2:c.756T>C, NM_001304506.1:c.756T>C, XM_047418755.1:c.756T>C, XM_047418754.1:c.810T>C, XM_047418753.1:c.756T>C

Select item 144762093716.

rs1447620937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:28245436 (GRCh38)
6:28213214 (GRCh37)
Canonical SPDI:: NC_000006.12:28245435:C:G,NC_000006.12:28245435:C:T
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28245436C>G, NC_000006.12:g.28245436C>T, NC_000006.11:g.28213214C>G, NC_000006.11:g.28213214C>T, NM_019110.5:c.1318G>C, NM_019110.5:c.1318G>A, NM_019110.4:c.1318G>C, NM_019110.4:c.1318G>A, NM_019110.3:c.1318G>C, NM_019110.3:c.1318G>A, XM_011514588.4:c.1231G>C, XM_011514588.4:c.1231G>A, XM_011514588.3:c.1231G>C, XM_011514588.3:c.1231G>A, XM_011514588.2:c.1231G>C, XM_011514588.2:c.1231G>A, XM_011514588.1:c.1231G>C, XM_011514588.1:c.1231G>A, XM_005249095.4:c.1318G>C, XM_005249095.4:c.1318G>A, XM_005249095.3:c.1318G>C, XM_005249095.3:c.1318G>A, XM_005249095.2:c.1318G>C, XM_005249095.2:c.1318G>A, XM_005249095.1:c.1318G>C, XM_005249095.1:c.1318G>A, XM_005249098.4:c.1009G>C, XM_005249098.4:c.1009G>A, XM_005249098.3:c.1009G>C, XM_005249098.3:c.1009G>A, XM_005249098.2:c.1009G>C, XM_005249098.2:c.1009G>A, XM_005249098.1:c.1009G>C, XM_005249098.1:c.1009G>A, XM_011514589.3:c.853G>C, XM_011514589.3:c.853G>A, XM_011514589.2:c.853G>C, XM_011514589.2:c.853G>A, XM_011514589.1:c.853G>C, XM_011514589.1:c.853G>A, NM_001304506.2:c.853G>C, NM_001304506.2:c.853G>A, NM_001304506.1:c.853G>C, NM_001304506.1:c.853G>A, XM_047418755.1:c.853G>C, XM_047418755.1:c.853G>A, XM_047418754.1:c.907G>C, XM_047418754.1:c.907G>A, XM_047418753.1:c.853G>C, XM_047418753.1:c.853G>A, NP_061983.2:p.Ala440Pro, NP_061983.2:p.Ala440Thr, XP_011512890.1:p.Ala411Pro, XP_011512890.1:p.Ala411Thr, XP_005249152.1:p.Ala440Pro, XP_005249152.1:p.Ala440Thr, XP_005249155.1:p.Ala337Pro, XP_005249155.1:p.Ala337Thr, XP_011512891.1:p.Ala285Pro, XP_011512891.1:p.Ala285Thr, NP_001291435.1:p.Ala285Pro, NP_001291435.1:p.Ala285Thr, XP_047274711.1:p.Ala285Pro, XP_047274711.1:p.Ala285Thr, XP_047274710.1:p.Ala303Pro, XP_047274710.1:p.Ala303Thr, XP_047274709.1:p.Ala285Pro, XP_047274709.1:p.Ala285Thr

Select item 144672412217.

rs1446724122 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGA [Show Flanks]
Chromosome:: 6:28245900 (GRCh38)
6:28213679 (GRCh37)
Canonical SPDI:: NC_000006.12:28245900:A:ACGA
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACGA=0./0 (ALFA)
ACG=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28245901_28245902insCGA, NC_000006.11:g.28213679_28213680insCGA, NM_019110.5:c.853_854insCGT, NM_019110.4:c.853_854insCGT, NM_019110.3:c.853_854insCGT, XM_011514588.4:c.766_767insCGT, XM_011514588.3:c.766_767insCGT, XM_011514588.2:c.766_767insCGT, XM_011514588.1:c.766_767insCGT, XM_005249095.4:c.853_854insCGT, XM_005249095.3:c.853_854insCGT, XM_005249095.2:c.853_854insCGT, XM_005249095.1:c.853_854insCGT, XM_005249098.4:c.544_545insCGT, XM_005249098.3:c.544_545insCGT, XM_005249098.2:c.544_545insCGT, XM_005249098.1:c.544_545insCGT, XM_011514589.3:c.388_389insCGT, XM_011514589.2:c.388_389insCGT, XM_011514589.1:c.388_389insCGT, NM_001304506.2:c.388_389insCGT, NM_001304506.1:c.388_389insCGT, XM_047418755.1:c.388_389insCGT, XM_047418754.1:c.442_443insCGT, XM_047418753.1:c.388_389insCGT, NP_061983.2:p.Cys285_His286insSer, XP_011512890.1:p.Cys256_His257insSer, XP_005249152.1:p.Cys285_His286insSer, XP_005249155.1:p.Cys182_His183insSer, XP_011512891.1:p.Cys130_His131insSer, NP_001291435.1:p.Cys130_His131insSer, XP_047274711.1:p.Cys130_His131insSer, XP_047274710.1:p.Cys148_His149insSer, XP_047274709.1:p.Cys130_His131insSer

Select item 144660799018.

rs1446607990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28247087 (GRCh38)
6:28214865 (GRCh37)
Canonical SPDI:: NC_000006.12:28247086:C:T
Gene:: ZKSCAN4 (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_000006.12:g.28247087C>T, NC_000006.11:g.28214865C>T, NM_019110.5:c.660G>A, NM_019110.4:c.660G>A, NM_019110.3:c.660G>A, XM_011514588.4:c.573G>A, XM_011514588.3:c.573G>A, XM_011514588.2:c.573G>A, XM_011514588.1:c.573G>A, XM_005249095.4:c.660G>A, XM_005249095.3:c.660G>A, XM_005249095.2:c.660G>A, XM_005249095.1:c.660G>A, XM_005249098.4:c.351G>A, XM_005249098.3:c.351G>A, XM_005249098.2:c.351G>A, XM_005249098.1:c.351G>A, XM_011514589.3:c.195G>A, XM_011514589.2:c.195G>A, XM_011514589.1:c.195G>A, NM_001304506.2:c.195G>A, NM_001304506.1:c.195G>A, XM_047418755.1:c.195G>A, XM_047418754.1:c.249G>A, XM_047418753.1:c.195G>A

Select item 144577691419.

rs1445776914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28247064 (GRCh38)
6:28214842 (GRCh37)
Canonical SPDI:: NC_000006.12:28247063:A:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28247064A>G, NC_000006.11:g.28214842A>G, NM_019110.5:c.683T>C, NM_019110.4:c.683T>C, NM_019110.3:c.683T>C, XM_011514588.4:c.596T>C, XM_011514588.3:c.596T>C, XM_011514588.2:c.596T>C, XM_011514588.1:c.596T>C, XM_005249095.4:c.683T>C, XM_005249095.3:c.683T>C, XM_005249095.2:c.683T>C, XM_005249095.1:c.683T>C, XM_005249098.4:c.374T>C, XM_005249098.3:c.374T>C, XM_005249098.2:c.374T>C, XM_005249098.1:c.374T>C, XM_011514589.3:c.218T>C, XM_011514589.2:c.218T>C, XM_011514589.1:c.218T>C, NM_001304506.2:c.218T>C, NM_001304506.1:c.218T>C, XM_047418755.1:c.218T>C, XM_047418754.1:c.272T>C, XM_047418753.1:c.218T>C, NP_061983.2:p.Leu228Pro, XP_011512890.1:p.Leu199Pro, XP_005249152.1:p.Leu228Pro, XP_005249155.1:p.Leu125Pro, XP_011512891.1:p.Leu73Pro, NP_001291435.1:p.Leu73Pro, XP_047274711.1:p.Leu73Pro, XP_047274710.1:p.Leu91Pro, XP_047274709.1:p.Leu73Pro

Select item 144503677020.

rs1445036770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:28245852 (GRCh38)
6:28213630 (GRCh37)
Canonical SPDI:: NC_000006.12:28245851:C:G
Gene:: ZKSCAN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28245852C>G, NC_000006.11:g.28213630C>G, NM_019110.5:c.902G>C, NM_019110.4:c.902G>C, NM_019110.3:c.902G>C, XM_011514588.4:c.815G>C, XM_011514588.3:c.815G>C, XM_011514588.2:c.815G>C, XM_011514588.1:c.815G>C, XM_005249095.4:c.902G>C, XM_005249095.3:c.902G>C, XM_005249095.2:c.902G>C, XM_005249095.1:c.902G>C, XM_005249098.4:c.593G>C, XM_005249098.3:c.593G>C, XM_005249098.2:c.593G>C, XM_005249098.1:c.593G>C, XM_011514589.3:c.437G>C, XM_011514589.2:c.437G>C, XM_011514589.1:c.437G>C, NM_001304506.2:c.437G>C, NM_001304506.1:c.437G>C, XM_047418755.1:c.437G>C, XM_047418754.1:c.491G>C, XM_047418753.1:c.437G>C, NP_061983.2:p.Gly301Ala, XP_011512890.1:p.Gly272Ala, XP_005249152.1:p.Gly301Ala, XP_005249155.1:p.Gly198Ala, XP_011512891.1:p.Gly146Ala, NP_001291435.1:p.Gly146Ala, XP_047274711.1:p.Gly146Ala, XP_047274710.1:p.Gly164Ala, XP_047274709.1:p.Gly146Ala

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