SNP Links for Protein (Select 557947978) - SNP

Links from Protein

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Select item 14849123111.

rs1484912311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144773878 (GRCh38)
8:145999263 (GRCh37)
Canonical SPDI:: NC_000008.11:144773877:G:A
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144773878G>A, NC_000008.10:g.145999263G>A, NM_030580.5:c.1071C>T, NM_030580.4:c.1071C>T, NM_030580.3:c.1071C>T, XM_011517318.3:c.1008C>T, XM_011517318.2:c.1008C>T, XM_011517318.1:c.1008C>T, XM_011517314.3:c.1071C>T, XM_011517314.2:c.1071C>T, XM_011517314.1:c.1071C>T, XM_017013874.2:c.1071C>T, XM_017013874.1:c.1071C>T, NM_001286769.2:c.1008C>T, NM_001286769.1:c.1008C>T, NM_001286770.2:c.951C>T, NM_001286770.1:c.951C>T, NM_001378028.1:c.1008C>T, XM_047422272.1:c.1071C>T, XM_047422269.1:c.1071C>T, XM_047422275.1:c.1008C>T, XM_047422273.1:c.1071C>T, XM_047422274.1:c.1008C>T, XM_047422271.1:c.1071C>T, NM_001378027.1:c.1008C>T, XM_047422270.1:c.1071C>T, XM_047422276.1:c.951C>T, NM_001378029.1:c.888C>T

Select item 14838181142.

rs1483818114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144774293 (GRCh38)
8:145999678 (GRCh37)
Canonical SPDI:: NC_000008.11:144774292:G:T
Gene:: ZNF34 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144774293G>T, NC_000008.10:g.145999678G>T, NM_030580.5:c.656C>A, NM_030580.4:c.656C>A, NM_030580.3:c.656C>A, XM_011517318.3:c.593C>A, XM_011517318.2:c.593C>A, XM_011517318.1:c.593C>A, XM_011517314.3:c.656C>A, XM_011517314.2:c.656C>A, XM_011517314.1:c.656C>A, XM_017013874.2:c.656C>A, XM_017013874.1:c.656C>A, NM_001286769.2:c.593C>A, NM_001286769.1:c.593C>A, NM_001286770.2:c.536C>A, NM_001286770.1:c.536C>A, NM_001378028.1:c.593C>A, XM_047422272.1:c.656C>A, XM_047422269.1:c.656C>A, XM_047422275.1:c.593C>A, XM_047422273.1:c.656C>A, XM_047422274.1:c.593C>A, XM_047422271.1:c.656C>A, NM_001378027.1:c.593C>A, XM_047422270.1:c.656C>A, XM_047422276.1:c.536C>A, NM_001378029.1:c.473C>A, NP_085057.3:p.Ser219Ter, XP_011515620.1:p.Ser198Ter, XP_011515616.1:p.Ser219Ter, XP_016869363.1:p.Ser219Ter, NP_001273698.1:p.Ser198Ter, NP_001273699.1:p.Ser179Ter, NP_001364957.1:p.Ser198Ter, XP_047278228.1:p.Ser219Ter, XP_047278225.1:p.Ser219Ter, XP_047278231.1:p.Ser198Ter, XP_047278229.1:p.Ser219Ter, XP_047278230.1:p.Ser198Ter, XP_047278227.1:p.Ser219Ter, NP_001364956.1:p.Ser198Ter, XP_047278226.1:p.Ser219Ter, XP_047278232.1:p.Ser179Ter, NP_001364958.1:p.Ser158Ter

Select item 14828442393.

rs1482844239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144773890 (GRCh38)
8:145999275 (GRCh37)
Canonical SPDI:: NC_000008.11:144773889:G:A
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_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)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144773890G>A, NC_000008.10:g.145999275G>A, NM_030580.5:c.1059C>T, NM_030580.4:c.1059C>T, NM_030580.3:c.1059C>T, XM_011517318.3:c.996C>T, XM_011517318.2:c.996C>T, XM_011517318.1:c.996C>T, XM_011517314.3:c.1059C>T, XM_011517314.2:c.1059C>T, XM_011517314.1:c.1059C>T, XM_017013874.2:c.1059C>T, XM_017013874.1:c.1059C>T, NM_001286769.2:c.996C>T, NM_001286769.1:c.996C>T, NM_001286770.2:c.939C>T, NM_001286770.1:c.939C>T, NM_001378028.1:c.996C>T, XM_047422272.1:c.1059C>T, XM_047422269.1:c.1059C>T, XM_047422275.1:c.996C>T, XM_047422273.1:c.1059C>T, XM_047422274.1:c.996C>T, XM_047422271.1:c.1059C>T, NM_001378027.1:c.996C>T, XM_047422270.1:c.1059C>T, XM_047422276.1:c.939C>T, NM_001378029.1:c.876C>T

Select item 14803674194.

rs1480367419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144777537 (GRCh38)
8:146002922 (GRCh37)
Canonical SPDI:: NC_000008.11:144777536:C:G
Gene:: ZNF34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144777537C>G, NC_000008.10:g.146002922C>G, NM_030580.5:c.264G>C, NM_030580.4:c.264G>C, NM_030580.3:c.264G>C, XM_011517318.3:c.201G>C, XM_011517318.2:c.201G>C, XM_011517318.1:c.201G>C, XM_011517314.3:c.264G>C, XM_011517314.2:c.264G>C, XM_011517314.1:c.264G>C, XM_017013874.2:c.264G>C, XM_017013874.1:c.264G>C, NM_001286769.2:c.201G>C, NM_001286769.1:c.201G>C, NM_001378028.1:c.201G>C, XM_047422272.1:c.264G>C, XM_047422269.1:c.264G>C, XM_047422275.1:c.201G>C, XM_047422273.1:c.264G>C, XM_047422274.1:c.201G>C, XM_047422271.1:c.264G>C, NM_001378027.1:c.201G>C, XM_047422270.1:c.264G>C, NP_085057.3:p.Gln88His, XP_011515620.1:p.Gln67His, XP_011515616.1:p.Gln88His, XP_016869363.1:p.Gln88His, NP_001273698.1:p.Gln67His, NP_001364957.1:p.Gln67His, XP_047278228.1:p.Gln88His, XP_047278225.1:p.Gln88His, XP_047278231.1:p.Gln67His, XP_047278229.1:p.Gln88His, XP_047278230.1:p.Gln67His, XP_047278227.1:p.Gln88His, NP_001364956.1:p.Gln67His, XP_047278226.1:p.Gln88His

Select item 14802964025.

rs1480296402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144773523 (GRCh38)
8:145998908 (GRCh37)
Canonical SPDI:: NC_000008.11:144773522:T:C
Gene:: ZNF34 (Varview), LOC105375805 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144773523T>C, NC_000008.10:g.145998908T>C, NM_030580.5:c.1426A>G, NM_030580.4:c.1426A>G, NM_030580.3:c.1426A>G, XM_011517318.3:c.1363A>G, XM_011517318.2:c.1363A>G, XM_011517318.1:c.1363A>G, XM_011517314.3:c.1426A>G, XM_011517314.2:c.1426A>G, XM_011517314.1:c.1426A>G, XM_017013874.2:c.1426A>G, XM_017013874.1:c.1426A>G, NM_001286769.2:c.1363A>G, NM_001286769.1:c.1363A>G, NM_001286770.2:c.1306A>G, NM_001286770.1:c.1306A>G, NM_001378028.1:c.1363A>G, XM_047422272.1:c.1426A>G, XM_047422269.1:c.1426A>G, XM_047422275.1:c.1363A>G, XM_047422273.1:c.1426A>G, XM_047422274.1:c.1363A>G, XM_047422271.1:c.1426A>G, NM_001378027.1:c.1363A>G, XM_047422270.1:c.1426A>G, XM_047422276.1:c.1306A>G, NM_001378029.1:c.1243A>G, NP_085057.3:p.Lys476Glu, XP_011515620.1:p.Lys455Glu, XP_011515616.1:p.Lys476Glu, XP_016869363.1:p.Lys476Glu, NP_001273698.1:p.Lys455Glu, NP_001273699.1:p.Lys436Glu, NP_001364957.1:p.Lys455Glu, XP_047278228.1:p.Lys476Glu, XP_047278225.1:p.Lys476Glu, XP_047278231.1:p.Lys455Glu, XP_047278229.1:p.Lys476Glu, XP_047278230.1:p.Lys455Glu, XP_047278227.1:p.Lys476Glu, NP_001364956.1:p.Lys455Glu, XP_047278226.1:p.Lys476Glu, XP_047278232.1:p.Lys436Glu, NP_001364958.1:p.Lys415Glu

Select item 14795492826.

rs1479549282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144774190 (GRCh38)
8:145999575 (GRCh37)
Canonical SPDI:: NC_000008.11:144774189:G:A
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144774190G>A, NC_000008.10:g.145999575G>A, NM_030580.5:c.759C>T, NM_030580.4:c.759C>T, NM_030580.3:c.759C>T, XM_011517318.3:c.696C>T, XM_011517318.2:c.696C>T, XM_011517318.1:c.696C>T, XM_011517314.3:c.759C>T, XM_011517314.2:c.759C>T, XM_011517314.1:c.759C>T, XM_017013874.2:c.759C>T, XM_017013874.1:c.759C>T, NM_001286769.2:c.696C>T, NM_001286769.1:c.696C>T, NM_001286770.2:c.639C>T, NM_001286770.1:c.639C>T, NM_001378028.1:c.696C>T, XM_047422272.1:c.759C>T, XM_047422269.1:c.759C>T, XM_047422275.1:c.696C>T, XM_047422273.1:c.759C>T, XM_047422274.1:c.696C>T, XM_047422271.1:c.759C>T, NM_001378027.1:c.696C>T, XM_047422270.1:c.759C>T, XM_047422276.1:c.639C>T, NM_001378029.1:c.576C>T

Select item 14792084837.

rs1479208483 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 8:144774317 (GRCh38)
8:145999702 (GRCh37)
Canonical SPDI:: NC_000008.11:144774312:GTTGTTG:GTTG
Gene:: ZNF34 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GTTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144774314TTG[1], NC_000008.10:g.145999699TTG[1], NM_030580.5:c.631AAC[1], NM_030580.4:c.631AAC[1], NM_030580.3:c.631AAC[1], XM_011517318.3:c.568AAC[1], XM_011517318.2:c.568AAC[1], XM_011517318.1:c.568AAC[1], XM_011517314.3:c.631AAC[1], XM_011517314.2:c.631AAC[1], XM_011517314.1:c.631AAC[1], XM_017013874.2:c.631AAC[1], XM_017013874.1:c.631AAC[1], NM_001286769.2:c.568AAC[1], NM_001286769.1:c.568AAC[1], NM_001286770.2:c.511AAC[1], NM_001286770.1:c.511AAC[1], NM_001378028.1:c.568AAC[1], XM_047422272.1:c.631AAC[1], XM_047422269.1:c.631AAC[1], XM_047422275.1:c.568AAC[1], XM_047422273.1:c.631AAC[1], XM_047422274.1:c.568AAC[1], XM_047422271.1:c.631AAC[1], NM_001378027.1:c.568AAC[1], XM_047422270.1:c.631AAC[1], XM_047422276.1:c.511AAC[1], NM_001378029.1:c.448AAC[1], NP_085057.3:p.Asn212del, XP_011515620.1:p.Asn191del, XP_011515616.1:p.Asn212del, XP_016869363.1:p.Asn212del, NP_001273698.1:p.Asn191del, NP_001273699.1:p.Asn172del, NP_001364957.1:p.Asn191del, XP_047278228.1:p.Asn212del, XP_047278225.1:p.Asn212del, XP_047278231.1:p.Asn191del, XP_047278229.1:p.Asn212del, XP_047278230.1:p.Asn191del, XP_047278227.1:p.Asn212del, NP_001364956.1:p.Asn191del, XP_047278226.1:p.Asn212del, XP_047278232.1:p.Asn172del, NP_001364958.1:p.Asn151del

Select item 14752621608.

rs1475262160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144778080 (GRCh38)
8:146003465 (GRCh37)
Canonical SPDI:: NC_000008.11:144778079:T:C
Gene:: ZNF34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144778080T>C, NC_000008.10:g.146003465T>C, NM_030580.5:c.181A>G, NM_030580.4:c.181A>G, NM_030580.3:c.181A>G, XM_011517318.3:c.118A>G, XM_011517318.2:c.118A>G, XM_011517318.1:c.118A>G, XM_011517314.3:c.181A>G, XM_011517314.2:c.181A>G, XM_011517314.1:c.181A>G, XM_017013874.2:c.181A>G, XM_017013874.1:c.181A>G, NM_001286769.2:c.118A>G, NM_001286769.1:c.118A>G, NM_001286770.2:c.181A>G, NM_001286770.1:c.181A>G, NM_001378028.1:c.118A>G, XM_047422272.1:c.181A>G, XM_047422269.1:c.181A>G, XM_047422275.1:c.118A>G, XM_047422273.1:c.181A>G, XM_047422274.1:c.118A>G, XM_047422271.1:c.181A>G, NM_001378027.1:c.118A>G, XM_047422270.1:c.181A>G, XM_047422276.1:c.181A>G, NM_001378029.1:c.118A>G, NP_085057.3:p.Arg61Gly, XP_011515620.1:p.Arg40Gly, XP_011515616.1:p.Arg61Gly, XP_016869363.1:p.Arg61Gly, NP_001273698.1:p.Arg40Gly, NP_001273699.1:p.Arg61Gly, NP_001364957.1:p.Arg40Gly, XP_047278228.1:p.Arg61Gly, XP_047278225.1:p.Arg61Gly, XP_047278231.1:p.Arg40Gly, XP_047278229.1:p.Arg61Gly, XP_047278230.1:p.Arg40Gly, XP_047278227.1:p.Arg61Gly, NP_001364956.1:p.Arg40Gly, XP_047278226.1:p.Arg61Gly, XP_047278232.1:p.Arg61Gly, NP_001364958.1:p.Arg40Gly

Select item 14752433369.

rs1475243336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144778045 (GRCh38)
8:146003430 (GRCh37)
Canonical SPDI:: NC_000008.11:144778044:G:A
Gene:: ZNF34 (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_000008.11:g.144778045G>A, NC_000008.10:g.146003430G>A, NM_030580.5:c.216C>T, NM_030580.4:c.216C>T, NM_030580.3:c.216C>T, XM_011517318.3:c.153C>T, XM_011517318.2:c.153C>T, XM_011517318.1:c.153C>T, XM_011517314.3:c.216C>T, XM_011517314.2:c.216C>T, XM_011517314.1:c.216C>T, XM_017013874.2:c.216C>T, XM_017013874.1:c.216C>T, NM_001286769.2:c.153C>T, NM_001286769.1:c.153C>T, NM_001286770.2:c.216C>T, NM_001286770.1:c.216C>T, NM_001378028.1:c.153C>T, XM_047422272.1:c.216C>T, XM_047422269.1:c.216C>T, XM_047422275.1:c.153C>T, XM_047422273.1:c.216C>T, XM_047422274.1:c.153C>T, XM_047422271.1:c.216C>T, NM_001378027.1:c.153C>T, XM_047422270.1:c.216C>T, XM_047422276.1:c.216C>T, NM_001378029.1:c.153C>T

Select item 147425304310.

rs1474253043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144773395 (GRCh38)
8:145998780 (GRCh37)
Canonical SPDI:: NC_000008.11:144773394:C:G
Gene:: ZNF34 (Varview), LOC105375805 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000008.11:g.144773395C>G, NC_000008.10:g.145998780C>G, NM_030580.5:c.1554G>C, NM_030580.4:c.1554G>C, NM_030580.3:c.1554G>C, XM_011517318.3:c.1491G>C, XM_011517318.2:c.1491G>C, XM_011517318.1:c.1491G>C, XM_011517314.3:c.1554G>C, XM_011517314.2:c.1554G>C, XM_011517314.1:c.1554G>C, XM_017013874.2:c.1554G>C, XM_017013874.1:c.1554G>C, NM_001286769.2:c.1491G>C, NM_001286769.1:c.1491G>C, NM_001286770.2:c.1434G>C, NM_001286770.1:c.1434G>C, NM_001378028.1:c.1491G>C, XM_047422272.1:c.1554G>C, XM_047422269.1:c.1554G>C, XM_047422275.1:c.1491G>C, XM_047422273.1:c.1554G>C, XM_047422274.1:c.1491G>C, XM_047422271.1:c.1554G>C, NM_001378027.1:c.1491G>C, XM_047422270.1:c.1554G>C, XM_047422276.1:c.1434G>C, NM_001378029.1:c.1371G>C, NP_085057.3:p.Leu518Phe, XP_011515620.1:p.Leu497Phe, XP_011515616.1:p.Leu518Phe, XP_016869363.1:p.Leu518Phe, NP_001273698.1:p.Leu497Phe, NP_001273699.1:p.Leu478Phe, NP_001364957.1:p.Leu497Phe, XP_047278228.1:p.Leu518Phe, XP_047278225.1:p.Leu518Phe, XP_047278231.1:p.Leu497Phe, XP_047278229.1:p.Leu518Phe, XP_047278230.1:p.Leu497Phe, XP_047278227.1:p.Leu518Phe, NP_001364956.1:p.Leu497Phe, XP_047278226.1:p.Leu518Phe, XP_047278232.1:p.Leu478Phe, NP_001364958.1:p.Leu457Phe

Select item 147339356611.

rs1473393566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144773396 (GRCh38)
8:145998781 (GRCh37)
Canonical SPDI:: NC_000008.11:144773395:A:G
Gene:: ZNF34 (Varview), LOC105375805 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144773396A>G, NC_000008.10:g.145998781A>G, NM_030580.5:c.1553T>C, NM_030580.4:c.1553T>C, NM_030580.3:c.1553T>C, XM_011517318.3:c.1490T>C, XM_011517318.2:c.1490T>C, XM_011517318.1:c.1490T>C, XM_011517314.3:c.1553T>C, XM_011517314.2:c.1553T>C, XM_011517314.1:c.1553T>C, XM_017013874.2:c.1553T>C, XM_017013874.1:c.1553T>C, NM_001286769.2:c.1490T>C, NM_001286769.1:c.1490T>C, NM_001286770.2:c.1433T>C, NM_001286770.1:c.1433T>C, NM_001378028.1:c.1490T>C, XM_047422272.1:c.1553T>C, XM_047422269.1:c.1553T>C, XM_047422275.1:c.1490T>C, XM_047422273.1:c.1553T>C, XM_047422274.1:c.1490T>C, XM_047422271.1:c.1553T>C, NM_001378027.1:c.1490T>C, XM_047422270.1:c.1553T>C, XM_047422276.1:c.1433T>C, NM_001378029.1:c.1370T>C, NP_085057.3:p.Leu518Ser, XP_011515620.1:p.Leu497Ser, XP_011515616.1:p.Leu518Ser, XP_016869363.1:p.Leu518Ser, NP_001273698.1:p.Leu497Ser, NP_001273699.1:p.Leu478Ser, NP_001364957.1:p.Leu497Ser, XP_047278228.1:p.Leu518Ser, XP_047278225.1:p.Leu518Ser, XP_047278231.1:p.Leu497Ser, XP_047278229.1:p.Leu518Ser, XP_047278230.1:p.Leu497Ser, XP_047278227.1:p.Leu518Ser, NP_001364956.1:p.Leu497Ser, XP_047278226.1:p.Leu518Ser, XP_047278232.1:p.Leu478Ser, NP_001364958.1:p.Leu457Ser

Select item 147302258012.

rs1473022580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144773311 (GRCh38)
8:145998696 (GRCh37)
Canonical SPDI:: NC_000008.11:144773310:C:G
Gene:: ZNF34 (Varview), LOC105375805 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.144773311C>G, NC_000008.10:g.145998696C>G, NM_030580.5:c.1638G>C, NM_030580.4:c.1638G>C, NM_030580.3:c.1638G>C, XM_011517318.3:c.1575G>C, XM_011517318.2:c.1575G>C, XM_011517318.1:c.1575G>C, XM_011517314.3:c.1638G>C, XM_011517314.2:c.1638G>C, XM_011517314.1:c.1638G>C, XM_017013874.2:c.1638G>C, XM_017013874.1:c.1638G>C, NM_001286769.2:c.1575G>C, NM_001286769.1:c.1575G>C, NM_001286770.2:c.1518G>C, NM_001286770.1:c.1518G>C, NM_001378028.1:c.1575G>C, XM_047422272.1:c.1638G>C, XM_047422269.1:c.1638G>C, XM_047422275.1:c.1575G>C, XM_047422273.1:c.1638G>C, XM_047422274.1:c.1575G>C, XM_047422271.1:c.1638G>C, NM_001378027.1:c.1575G>C, XM_047422270.1:c.1638G>C, XM_047422276.1:c.1518G>C, NM_001378029.1:c.1455G>C, NP_085057.3:p.Met546Ile, XP_011515620.1:p.Met525Ile, XP_011515616.1:p.Met546Ile, XP_016869363.1:p.Met546Ile, NP_001273698.1:p.Met525Ile, NP_001273699.1:p.Met506Ile, NP_001364957.1:p.Met525Ile, XP_047278228.1:p.Met546Ile, XP_047278225.1:p.Met546Ile, XP_047278231.1:p.Met525Ile, XP_047278229.1:p.Met546Ile, XP_047278230.1:p.Met525Ile, XP_047278227.1:p.Met546Ile, NP_001364956.1:p.Met525Ile, XP_047278226.1:p.Met546Ile, XP_047278232.1:p.Met506Ile, NP_001364958.1:p.Met485Ile

Select item 147230720613.

rs1472307206 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144773820 (GRCh38)
8:145999205 (GRCh37)
Canonical SPDI:: NC_000008.11:144773819:T:C
Gene:: ZNF34 (Varview), LOC105375805 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144773820T>C, NC_000008.10:g.145999205T>C, NM_030580.5:c.1129A>G, NM_030580.4:c.1129A>G, NM_030580.3:c.1129A>G, XM_011517318.3:c.1066A>G, XM_011517318.2:c.1066A>G, XM_011517318.1:c.1066A>G, XM_011517314.3:c.1129A>G, XM_011517314.2:c.1129A>G, XM_011517314.1:c.1129A>G, XM_017013874.2:c.1129A>G, XM_017013874.1:c.1129A>G, NM_001286769.2:c.1066A>G, NM_001286769.1:c.1066A>G, NM_001286770.2:c.1009A>G, NM_001286770.1:c.1009A>G, NM_001378028.1:c.1066A>G, XM_047422272.1:c.1129A>G, XM_047422269.1:c.1129A>G, XM_047422275.1:c.1066A>G, XM_047422273.1:c.1129A>G, XM_047422274.1:c.1066A>G, XM_047422271.1:c.1129A>G, NM_001378027.1:c.1066A>G, XM_047422270.1:c.1129A>G, XM_047422276.1:c.1009A>G, NM_001378029.1:c.946A>G, NP_085057.3:p.Ile377Val, XP_011515620.1:p.Ile356Val, XP_011515616.1:p.Ile377Val, XP_016869363.1:p.Ile377Val, NP_001273698.1:p.Ile356Val, NP_001273699.1:p.Ile337Val, NP_001364957.1:p.Ile356Val, XP_047278228.1:p.Ile377Val, XP_047278225.1:p.Ile377Val, XP_047278231.1:p.Ile356Val, XP_047278229.1:p.Ile377Val, XP_047278230.1:p.Ile356Val, XP_047278227.1:p.Ile377Val, NP_001364956.1:p.Ile356Val, XP_047278226.1:p.Ile377Val, XP_047278232.1:p.Ile337Val, NP_001364958.1:p.Ile316Val

Select item 147218019114.

rs1472180191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144774471 (GRCh38)
8:145999856 (GRCh37)
Canonical SPDI:: NC_000008.11:144774470:C:T
Gene:: ZNF34 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144774471C>T, NC_000008.10:g.145999856C>T, NM_030580.5:c.478G>A, NM_030580.4:c.478G>A, NM_030580.3:c.478G>A, XM_011517318.3:c.415G>A, XM_011517318.2:c.415G>A, XM_011517318.1:c.415G>A, XM_011517314.3:c.478G>A, XM_011517314.2:c.478G>A, XM_011517314.1:c.478G>A, XM_017013874.2:c.478G>A, XM_017013874.1:c.478G>A, NM_001286769.2:c.415G>A, NM_001286769.1:c.415G>A, NM_001286770.2:c.358G>A, NM_001286770.1:c.358G>A, NM_001378028.1:c.415G>A, XM_047422272.1:c.478G>A, XM_047422269.1:c.478G>A, XM_047422275.1:c.415G>A, XM_047422273.1:c.478G>A, XM_047422274.1:c.415G>A, XM_047422271.1:c.478G>A, NM_001378027.1:c.415G>A, XM_047422270.1:c.478G>A, XM_047422276.1:c.358G>A, NM_001378029.1:c.295G>A, NP_085057.3:p.Glu160Lys, XP_011515620.1:p.Glu139Lys, XP_011515616.1:p.Glu160Lys, XP_016869363.1:p.Glu160Lys, NP_001273698.1:p.Glu139Lys, NP_001273699.1:p.Glu120Lys, NP_001364957.1:p.Glu139Lys, XP_047278228.1:p.Glu160Lys, XP_047278225.1:p.Glu160Lys, XP_047278231.1:p.Glu139Lys, XP_047278229.1:p.Glu160Lys, XP_047278230.1:p.Glu139Lys, XP_047278227.1:p.Glu160Lys, NP_001364956.1:p.Glu139Lys, XP_047278226.1:p.Glu160Lys, XP_047278232.1:p.Glu120Lys, NP_001364958.1:p.Glu99Lys

Select item 146741083115.

rs1467410831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144777486 (GRCh38)
8:146002871 (GRCh37)
Canonical SPDI:: NC_000008.11:144777485:C:T
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.144777486C>T, NC_000008.10:g.146002871C>T, NM_030580.5:c.315G>A, NM_030580.4:c.315G>A, NM_030580.3:c.315G>A, XM_011517318.3:c.252G>A, XM_011517318.2:c.252G>A, XM_011517318.1:c.252G>A, XM_011517314.3:c.315G>A, XM_011517314.2:c.315G>A, XM_011517314.1:c.315G>A, XM_017013874.2:c.315G>A, XM_017013874.1:c.315G>A, NM_001286769.2:c.252G>A, NM_001286769.1:c.252G>A, NM_001378028.1:c.252G>A, XM_047422272.1:c.315G>A, XM_047422269.1:c.315G>A, XM_047422275.1:c.252G>A, XM_047422273.1:c.315G>A, XM_047422274.1:c.252G>A, XM_047422271.1:c.315G>A, NM_001378027.1:c.252G>A, XM_047422270.1:c.315G>A

Select item 146695225916.

rs1466952259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144774504 (GRCh38)
8:145999889 (GRCh37)
Canonical SPDI:: NC_000008.11:144774503:T:C
Gene:: ZNF34 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144774504T>C, NC_000008.10:g.145999889T>C, NM_030580.5:c.445A>G, NM_030580.4:c.445A>G, NM_030580.3:c.445A>G, XM_011517318.3:c.382A>G, XM_011517318.2:c.382A>G, XM_011517318.1:c.382A>G, XM_011517314.3:c.445A>G, XM_011517314.2:c.445A>G, XM_011517314.1:c.445A>G, XM_017013874.2:c.445A>G, XM_017013874.1:c.445A>G, NM_001286769.2:c.382A>G, NM_001286769.1:c.382A>G, NM_001286770.2:c.325A>G, NM_001286770.1:c.325A>G, NM_001378028.1:c.382A>G, XM_047422272.1:c.445A>G, XM_047422269.1:c.445A>G, XM_047422275.1:c.382A>G, XM_047422273.1:c.445A>G, XM_047422274.1:c.382A>G, XM_047422271.1:c.445A>G, NM_001378027.1:c.382A>G, XM_047422270.1:c.445A>G, XM_047422276.1:c.325A>G, NM_001378029.1:c.262A>G, NP_085057.3:p.Ser149Gly, XP_011515620.1:p.Ser128Gly, XP_011515616.1:p.Ser149Gly, XP_016869363.1:p.Ser149Gly, NP_001273698.1:p.Ser128Gly, NP_001273699.1:p.Ser109Gly, NP_001364957.1:p.Ser128Gly, XP_047278228.1:p.Ser149Gly, XP_047278225.1:p.Ser149Gly, XP_047278231.1:p.Ser128Gly, XP_047278229.1:p.Ser149Gly, XP_047278230.1:p.Ser128Gly, XP_047278227.1:p.Ser149Gly, NP_001364956.1:p.Ser128Gly, XP_047278226.1:p.Ser149Gly, XP_047278232.1:p.Ser109Gly, NP_001364958.1:p.Ser88Gly

Select item 146572495817.

rs1465724958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144774590 (GRCh38)
8:145999975 (GRCh37)
Canonical SPDI:: NC_000008.11:144774589:G:T
Gene:: ZNF34 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144774590G>T, NC_000008.10:g.145999975G>T, NM_030580.5:c.359C>A, NM_030580.4:c.359C>A, NM_030580.3:c.359C>A, XM_011517318.3:c.296C>A, XM_011517318.2:c.296C>A, XM_011517318.1:c.296C>A, XM_011517314.3:c.359C>A, XM_011517314.2:c.359C>A, XM_011517314.1:c.359C>A, XM_017013874.2:c.359C>A, XM_017013874.1:c.359C>A, NM_001286769.2:c.296C>A, NM_001286769.1:c.296C>A, NM_001286770.2:c.239C>A, NM_001286770.1:c.239C>A, NM_001378028.1:c.296C>A, XM_047422272.1:c.359C>A, XM_047422269.1:c.359C>A, XM_047422275.1:c.296C>A, XM_047422273.1:c.359C>A, XM_047422274.1:c.296C>A, XM_047422271.1:c.359C>A, NM_001378027.1:c.296C>A, XM_047422270.1:c.359C>A, XM_047422276.1:c.239C>A, NM_001378029.1:c.176C>A, NP_085057.3:p.Thr120Asn, XP_011515620.1:p.Thr99Asn, XP_011515616.1:p.Thr120Asn, XP_016869363.1:p.Thr120Asn, NP_001273698.1:p.Thr99Asn, NP_001273699.1:p.Thr80Asn, NP_001364957.1:p.Thr99Asn, XP_047278228.1:p.Thr120Asn, XP_047278225.1:p.Thr120Asn, XP_047278231.1:p.Thr99Asn, XP_047278229.1:p.Thr120Asn, XP_047278230.1:p.Thr99Asn, XP_047278227.1:p.Thr120Asn, NP_001364956.1:p.Thr99Asn, XP_047278226.1:p.Thr120Asn, XP_047278232.1:p.Thr80Asn, NP_001364958.1:p.Thr59Asn

Select item 146109192918.

rs1461091929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144777559 (GRCh38)
8:146002944 (GRCh37)
Canonical SPDI:: NC_000008.11:144777558:G:A
Gene:: ZNF34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144777559G>A, NC_000008.10:g.146002944G>A, NM_030580.5:c.242C>T, NM_030580.4:c.242C>T, NM_030580.3:c.242C>T, XM_011517318.3:c.179C>T, XM_011517318.2:c.179C>T, XM_011517318.1:c.179C>T, XM_011517314.3:c.242C>T, XM_011517314.2:c.242C>T, XM_011517314.1:c.242C>T, XM_017013874.2:c.242C>T, XM_017013874.1:c.242C>T, NM_001286769.2:c.179C>T, NM_001286769.1:c.179C>T, NM_001378028.1:c.179C>T, XM_047422272.1:c.242C>T, XM_047422269.1:c.242C>T, XM_047422275.1:c.179C>T, XM_047422273.1:c.242C>T, XM_047422274.1:c.179C>T, XM_047422271.1:c.242C>T, NM_001378027.1:c.179C>T, XM_047422270.1:c.242C>T, NP_085057.3:p.Pro81Leu, XP_011515620.1:p.Pro60Leu, XP_011515616.1:p.Pro81Leu, XP_016869363.1:p.Pro81Leu, NP_001273698.1:p.Pro60Leu, NP_001364957.1:p.Pro60Leu, XP_047278228.1:p.Pro81Leu, XP_047278225.1:p.Pro81Leu, XP_047278231.1:p.Pro60Leu, XP_047278229.1:p.Pro81Leu, XP_047278230.1:p.Pro60Leu, XP_047278227.1:p.Pro81Leu, NP_001364956.1:p.Pro60Leu, XP_047278226.1:p.Pro81Leu

Select item 145988316619.

rs1459883166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144774541 (GRCh38)
8:145999926 (GRCh37)
Canonical SPDI:: NC_000008.11:144774540:G:C
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144774541G>C, NC_000008.10:g.145999926G>C, NM_030580.5:c.408C>G, NM_030580.4:c.408C>G, NM_030580.3:c.408C>G, XM_011517318.3:c.345C>G, XM_011517318.2:c.345C>G, XM_011517318.1:c.345C>G, XM_011517314.3:c.408C>G, XM_011517314.2:c.408C>G, XM_011517314.1:c.408C>G, XM_017013874.2:c.408C>G, XM_017013874.1:c.408C>G, NM_001286769.2:c.345C>G, NM_001286769.1:c.345C>G, NM_001286770.2:c.288C>G, NM_001286770.1:c.288C>G, NM_001378028.1:c.345C>G, XM_047422272.1:c.408C>G, XM_047422269.1:c.408C>G, XM_047422275.1:c.345C>G, XM_047422273.1:c.408C>G, XM_047422274.1:c.345C>G, XM_047422271.1:c.408C>G, NM_001378027.1:c.345C>G, XM_047422270.1:c.408C>G, XM_047422276.1:c.288C>G, NM_001378029.1:c.225C>G

Select item 145960951020.

rs1459609510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144774535 (GRCh38)
8:145999920 (GRCh37)
Canonical SPDI:: NC_000008.11:144774534:T:A
Gene:: ZNF34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144774535T>A, NC_000008.10:g.145999920T>A, NM_030580.5:c.414A>T, NM_030580.4:c.414A>T, NM_030580.3:c.414A>T, XM_011517318.3:c.351A>T, XM_011517318.2:c.351A>T, XM_011517318.1:c.351A>T, XM_011517314.3:c.414A>T, XM_011517314.2:c.414A>T, XM_011517314.1:c.414A>T, XM_017013874.2:c.414A>T, XM_017013874.1:c.414A>T, NM_001286769.2:c.351A>T, NM_001286769.1:c.351A>T, NM_001286770.2:c.294A>T, NM_001286770.1:c.294A>T, NM_001378028.1:c.351A>T, XM_047422272.1:c.414A>T, XM_047422269.1:c.414A>T, XM_047422275.1:c.351A>T, XM_047422273.1:c.414A>T, XM_047422274.1:c.351A>T, XM_047422271.1:c.414A>T, NM_001378027.1:c.351A>T, XM_047422270.1:c.414A>T, XM_047422276.1:c.294A>T, NM_001378029.1:c.231A>T

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