SNP Links for Protein (Select 767999403) - SNP

Links from Protein

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Select item 14910280001.

rs1491028000 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGGCAAA [Show Flanks]
Chromosome:: 18:35245824 (GRCh38)
18:32825789 (GRCh37)
Canonical SPDI:: NC_000018.10:35245824:TGTGGCAAA:TGTGGCAAATGTGGCAAA
Gene:: ZNF397 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGGCAAATGTGGCAAA=0.000043/1 (ALFA)
TGTGGCAAA=0.000007/1 (GnomAD)
TGTGGCAAA=0.000008/2 (TOPMED)
TGTGGCAAA=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35245825_35245833dup, NC_000018.9:g.32825789_32825797dup, NG_015815.1:g.9796_9804dup, NM_001135178.3:c.1120_1128dup, NM_001135178.2:c.1120_1128dup, XM_011526229.3:c.1177_1185dup, XM_011526229.2:c.1177_1185dup, XM_011526229.1:c.1177_1185dup, XM_006722558.3:c.1177_1185dup, XM_006722558.2:c.1177_1185dup, XM_006722558.1:c.1177_1185dup, XM_011526230.3:c.1177_1185dup, XM_011526230.2:c.1177_1185dup, XM_011526230.1:c.1177_1185dup, XM_011526231.3:c.1120_1128dup, XM_011526231.2:c.1120_1128dup, XM_011526231.1:c.1120_1128dup, XM_024451275.2:c.301_309dup, XM_024451275.1:c.301_309dup, XM_047437888.1:c.1120_1128dup, XM_047437889.1:c.1120_1128dup, XM_047437890.1:c.301_309dup, NP_001128650.1:p.Cys374_Lys376dup, XP_011524531.1:p.Cys393_Lys395dup, XP_006722621.1:p.Cys393_Lys395dup, XP_011524532.1:p.Cys393_Lys395dup, XP_011524533.1:p.Cys374_Lys376dup, XP_024307043.1:p.Cys101_Lys103dup, XP_047293844.1:p.Cys374_Lys376dup, XP_047293845.1:p.Cys374_Lys376dup, XP_047293846.1:p.Cys101_Lys103dup

Select item 14883321302.

rs1488332130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 18:35242564 (GRCh38)
18:32822528 (GRCh37)
Canonical SPDI:: NC_000018.10:35242563:T:A,NC_000018.10:35242563:T:G
Gene:: ZNF397 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.35242564T>A, NC_000018.10:g.35242564T>G, NC_000018.9:g.32822528T>A, NC_000018.9:g.32822528T>G, NG_015815.1:g.6535T>A, NG_015815.1:g.6535T>G, NM_001135178.3:c.94T>A, NM_001135178.3:c.94T>G, NM_001135178.2:c.94T>A, NM_001135178.2:c.94T>G, NM_032347.3:c.94T>A, NM_032347.3:c.94T>G, NM_032347.2:c.94T>A, NM_032347.2:c.94T>G, XM_011526229.3:c.94T>A, XM_011526229.3:c.94T>G, XM_011526229.2:c.94T>A, XM_011526229.2:c.94T>G, XM_011526229.1:c.94T>A, XM_011526229.1:c.94T>G, XM_006722558.3:c.94T>A, XM_006722558.3:c.94T>G, XM_006722558.2:c.94T>A, XM_006722558.2:c.94T>G, XM_006722558.1:c.94T>A, XM_006722558.1:c.94T>G, XM_011526230.3:c.94T>A, XM_011526230.3:c.94T>G, XM_011526230.2:c.94T>A, XM_011526230.2:c.94T>G, XM_011526230.1:c.94T>A, XM_011526230.1:c.94T>G, XM_011526231.3:c.94T>A, XM_011526231.3:c.94T>G, XM_011526231.2:c.94T>A, XM_011526231.2:c.94T>G, XM_011526231.1:c.94T>A, XM_011526231.1:c.94T>G, XM_047437888.1:c.94T>A, XM_047437888.1:c.94T>G, XM_047437889.1:c.94T>A, XM_047437889.1:c.94T>G, NP_001128650.1:p.Trp32Arg, NP_001128650.1:p.Trp32Gly, NP_115723.1:p.Trp32Arg, NP_115723.1:p.Trp32Gly, XP_011524531.1:p.Trp32Arg, XP_011524531.1:p.Trp32Gly, XP_006722621.1:p.Trp32Arg, XP_006722621.1:p.Trp32Gly, XP_011524532.1:p.Trp32Arg, XP_011524532.1:p.Trp32Gly, XP_011524533.1:p.Trp32Arg, XP_011524533.1:p.Trp32Gly, XP_047293844.1:p.Trp32Arg, XP_047293844.1:p.Trp32Gly, XP_047293845.1:p.Trp32Arg, XP_047293845.1:p.Trp32Gly

Select item 14867057053.

rs1486705705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35245611 (GRCh38)
18:32825575 (GRCh37)
Canonical SPDI:: NC_000018.10:35245610:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.35245611A>G, NC_000018.9:g.32825575A>G, NG_015815.1:g.9582A>G, NM_001135178.3:c.906A>G, NM_001135178.2:c.906A>G, XM_011526229.3:c.963A>G, XM_011526229.2:c.963A>G, XM_011526229.1:c.963A>G, XM_006722558.3:c.963A>G, XM_006722558.2:c.963A>G, XM_006722558.1:c.963A>G, XM_011526230.3:c.963A>G, XM_011526230.2:c.963A>G, XM_011526230.1:c.963A>G, XM_011526231.3:c.906A>G, XM_011526231.2:c.906A>G, XM_011526231.1:c.906A>G, XM_024451275.2:c.87A>G, XM_024451275.1:c.87A>G, XM_047437888.1:c.906A>G, XM_047437889.1:c.906A>G, XM_047437890.1:c.87A>G

Select item 14852719244.

rs1485271924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:35246283 (GRCh38)
18:32826247 (GRCh37)
Canonical SPDI:: NC_000018.10:35246282:C:T
Gene:: ZNF397 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35246283C>T, NC_000018.9:g.32826247C>T, NG_015815.1:g.10254C>T, NM_001135178.3:c.1578C>T, NM_001135178.2:c.1578C>T, XM_011526229.3:c.1635C>T, XM_011526229.2:c.1635C>T, XM_011526229.1:c.1635C>T, XM_006722558.3:c.1635C>T, XM_006722558.2:c.1635C>T, XM_006722558.1:c.1635C>T, XM_011526230.3:c.1635C>T, XM_011526230.2:c.1635C>T, XM_011526230.1:c.1635C>T, XM_011526231.3:c.1578C>T, XM_011526231.2:c.1578C>T, XM_011526231.1:c.1578C>T, XM_024451275.2:c.759C>T, XM_024451275.1:c.759C>T, XM_047437888.1:c.1578C>T, XM_047437889.1:c.1578C>T, XM_047437890.1:c.759C>T

Select item 14819765725.

rs1481976572 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:35243246 (GRCh38)
18:32823211 (GRCh37)
Canonical SPDI:: NC_000018.10:35243246:AAA:AAAA
Gene:: ZNF397 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35243249dup, NC_000018.9:g.32823213dup, NG_015815.1:g.7220dup, NM_001135178.3:c.512dup, NM_001135178.2:c.512dup, NM_032347.3:c.512dup, NM_032347.2:c.512dup, XM_011526229.3:c.569dup, XM_011526229.2:c.569dup, XM_011526229.1:c.569dup, XM_006722558.3:c.569dup, XM_006722558.2:c.569dup, XM_006722558.1:c.569dup, XM_011526230.3:c.569dup, XM_011526230.2:c.569dup, XM_011526230.1:c.569dup, XM_011526231.3:c.512dup, XM_011526231.2:c.512dup, XM_011526231.1:c.512dup, XM_047437888.1:c.512dup, XM_047437889.1:c.512dup, XM_047437890.1:c.-308dup, NP_001128650.1:p.Thr172fs, NP_115723.1:p.Thr172fs, XP_011524531.1:p.Thr191fs, XP_006722621.1:p.Thr191fs, XP_011524532.1:p.Thr191fs, XP_011524533.1:p.Thr172fs, XP_047293844.1:p.Thr172fs, XP_047293845.1:p.Thr172fs

Select item 14803432026.

rs1480343202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35242498 (GRCh38)
18:32822462 (GRCh37)
Canonical SPDI:: NC_000018.10:35242497:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.35242498A>G, NC_000018.9:g.32822462A>G, NG_015815.1:g.6469A>G, NM_001135178.3:c.28A>G, NM_001135178.2:c.28A>G, NM_032347.3:c.28A>G, NM_032347.2:c.28A>G, XM_011526229.3:c.28A>G, XM_011526229.2:c.28A>G, XM_011526229.1:c.28A>G, XM_006722558.3:c.28A>G, XM_006722558.2:c.28A>G, XM_006722558.1:c.28A>G, XM_011526230.3:c.28A>G, XM_011526230.2:c.28A>G, XM_011526230.1:c.28A>G, XM_011526231.3:c.28A>G, XM_011526231.2:c.28A>G, XM_011526231.1:c.28A>G, XM_047437888.1:c.28A>G, XM_047437889.1:c.28A>G, NP_001128650.1:p.Thr10Ala, NP_115723.1:p.Thr10Ala, XP_011524531.1:p.Thr10Ala, XP_006722621.1:p.Thr10Ala, XP_011524532.1:p.Thr10Ala, XP_011524533.1:p.Thr10Ala, XP_047293844.1:p.Thr10Ala, XP_047293845.1:p.Thr10Ala

Select item 14800098997.

rs1480009899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:35245750 (GRCh38)
18:32825714 (GRCh37)
Canonical SPDI:: NC_000018.10:35245749:G:C
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35245750G>C, NC_000018.9:g.32825714G>C, NG_015815.1:g.9721G>C, NM_001135178.3:c.1045G>C, NM_001135178.2:c.1045G>C, XM_011526229.3:c.1102G>C, XM_011526229.2:c.1102G>C, XM_011526229.1:c.1102G>C, XM_006722558.3:c.1102G>C, XM_006722558.2:c.1102G>C, XM_006722558.1:c.1102G>C, XM_011526230.3:c.1102G>C, XM_011526230.2:c.1102G>C, XM_011526230.1:c.1102G>C, XM_011526231.3:c.1045G>C, XM_011526231.2:c.1045G>C, XM_011526231.1:c.1045G>C, XM_024451275.2:c.226G>C, XM_024451275.1:c.226G>C, XM_047437888.1:c.1045G>C, XM_047437889.1:c.1045G>C, XM_047437890.1:c.226G>C, NP_001128650.1:p.Ala349Pro, XP_011524531.1:p.Ala368Pro, XP_006722621.1:p.Ala368Pro, XP_011524532.1:p.Ala368Pro, XP_011524533.1:p.Ala349Pro, XP_024307043.1:p.Ala76Pro, XP_047293844.1:p.Ala349Pro, XP_047293845.1:p.Ala349Pro, XP_047293846.1:p.Ala76Pro

Select item 14794280248.

rs1479428024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:35245440 (GRCh38)
18:32825404 (GRCh37)
Canonical SPDI:: NC_000018.10:35245439:A:C
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_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_000018.10:g.35245440A>C, NC_000018.9:g.32825404A>C, NG_015815.1:g.9411A>C, NM_001135178.3:c.735A>C, NM_001135178.2:c.735A>C, XM_011526229.3:c.792A>C, XM_011526229.2:c.792A>C, XM_011526229.1:c.792A>C, XM_006722558.3:c.792A>C, XM_006722558.2:c.792A>C, XM_006722558.1:c.792A>C, XM_011526230.3:c.792A>C, XM_011526230.2:c.792A>C, XM_011526230.1:c.792A>C, XM_011526231.3:c.735A>C, XM_011526231.2:c.735A>C, XM_011526231.1:c.735A>C, XM_024451275.2:c.-85A>C, XM_024451275.1:c.-85A>C, XM_047437888.1:c.735A>C, XM_047437889.1:c.735A>C, XM_047437890.1:c.-85A>C, NP_001128650.1:p.Gln245His, XP_011524531.1:p.Gln264His, XP_006722621.1:p.Gln264His, XP_011524532.1:p.Gln264His, XP_011524533.1:p.Gln245His, XP_047293844.1:p.Gln245His, XP_047293845.1:p.Gln245His

Select item 14776735569.

rs1477673556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35242568 (GRCh38)
18:32822532 (GRCh37)
Canonical SPDI:: NC_000018.10:35242567:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_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 (TOPMED)
HGVS:: NC_000018.10:g.35242568A>G, NC_000018.9:g.32822532A>G, NG_015815.1:g.6539A>G, NM_001135178.3:c.98A>G, NM_001135178.2:c.98A>G, NM_032347.3:c.98A>G, NM_032347.2:c.98A>G, XM_011526229.3:c.98A>G, XM_011526229.2:c.98A>G, XM_011526229.1:c.98A>G, XM_006722558.3:c.98A>G, XM_006722558.2:c.98A>G, XM_006722558.1:c.98A>G, XM_011526230.3:c.98A>G, XM_011526230.2:c.98A>G, XM_011526230.1:c.98A>G, XM_011526231.3:c.98A>G, XM_011526231.2:c.98A>G, XM_011526231.1:c.98A>G, XM_047437888.1:c.98A>G, XM_047437889.1:c.98A>G, NP_001128650.1:p.Asp33Gly, NP_115723.1:p.Asp33Gly, XP_011524531.1:p.Asp33Gly, XP_006722621.1:p.Asp33Gly, XP_011524532.1:p.Asp33Gly, XP_011524533.1:p.Asp33Gly, XP_047293844.1:p.Asp33Gly, XP_047293845.1:p.Asp33Gly

Select item 147670254910.

rs1476702549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35245402 (GRCh38)
18:32825366 (GRCh37)
Canonical SPDI:: NC_000018.10:35245401:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35245402A>G, NC_000018.9:g.32825366A>G, NG_015815.1:g.9373A>G, NM_001135178.3:c.697A>G, NM_001135178.2:c.697A>G, XM_011526229.3:c.754A>G, XM_011526229.2:c.754A>G, XM_011526229.1:c.754A>G, XM_006722558.3:c.754A>G, XM_006722558.2:c.754A>G, XM_006722558.1:c.754A>G, XM_011526230.3:c.754A>G, XM_011526230.2:c.754A>G, XM_011526230.1:c.754A>G, XM_011526231.3:c.697A>G, XM_011526231.2:c.697A>G, XM_011526231.1:c.697A>G, XM_024451275.2:c.-123A>G, XM_024451275.1:c.-123A>G, XM_047437888.1:c.697A>G, XM_047437889.1:c.697A>G, XM_047437890.1:c.-123A>G, NP_001128650.1:p.Lys233Glu, XP_011524531.1:p.Lys252Glu, XP_006722621.1:p.Lys252Glu, XP_011524532.1:p.Lys252Glu, XP_011524533.1:p.Lys233Glu, XP_047293844.1:p.Lys233Glu, XP_047293845.1:p.Lys233Glu

Select item 147643898611.

rs1476438986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35243255 (GRCh38)
18:32823219 (GRCh37)
Canonical SPDI:: NC_000018.10:35243254:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35243255A>G, NC_000018.9:g.32823219A>G, NG_015815.1:g.7226A>G, NM_001135178.3:c.518A>G, NM_001135178.2:c.518A>G, NM_032347.3:c.518A>G, NM_032347.2:c.518A>G, XM_011526229.3:c.575A>G, XM_011526229.2:c.575A>G, XM_011526229.1:c.575A>G, XM_006722558.3:c.575A>G, XM_006722558.2:c.575A>G, XM_006722558.1:c.575A>G, XM_011526230.3:c.575A>G, XM_011526230.2:c.575A>G, XM_011526230.1:c.575A>G, XM_011526231.3:c.518A>G, XM_011526231.2:c.518A>G, XM_011526231.1:c.518A>G, XM_047437888.1:c.518A>G, XM_047437889.1:c.518A>G, XM_047437890.1:c.-302A>G, NP_001128650.1:p.Gln173Arg, NP_115723.1:p.Gln173Arg, XP_011524531.1:p.Gln192Arg, XP_006722621.1:p.Gln192Arg, XP_011524532.1:p.Gln192Arg, XP_011524533.1:p.Gln173Arg, XP_047293844.1:p.Gln173Arg, XP_047293845.1:p.Gln173Arg

Select item 147615780212.

rs1476157802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35245421 (GRCh38)
18:32825385 (GRCh37)
Canonical SPDI:: NC_000018.10:35245420:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35245421A>G, NC_000018.9:g.32825385A>G, NG_015815.1:g.9392A>G, NM_001135178.3:c.716A>G, NM_001135178.2:c.716A>G, XM_011526229.3:c.773A>G, XM_011526229.2:c.773A>G, XM_011526229.1:c.773A>G, XM_006722558.3:c.773A>G, XM_006722558.2:c.773A>G, XM_006722558.1:c.773A>G, XM_011526230.3:c.773A>G, XM_011526230.2:c.773A>G, XM_011526230.1:c.773A>G, XM_011526231.3:c.716A>G, XM_011526231.2:c.716A>G, XM_011526231.1:c.716A>G, XM_024451275.2:c.-104A>G, XM_024451275.1:c.-104A>G, XM_047437888.1:c.716A>G, XM_047437889.1:c.716A>G, XM_047437890.1:c.-104A>G, NP_001128650.1:p.Gln239Arg, XP_011524531.1:p.Gln258Arg, XP_006722621.1:p.Gln258Arg, XP_011524532.1:p.Gln258Arg, XP_011524533.1:p.Gln239Arg, XP_047293844.1:p.Gln239Arg, XP_047293845.1:p.Gln239Arg

Select item 147554555413.

rs1475545554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:35245871 (GRCh38)
18:32825835 (GRCh37)
Canonical SPDI:: NC_000018.10:35245870:G:T
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.35245871G>T, NC_000018.9:g.32825835G>T, NG_015815.1:g.9842G>T, NM_001135178.3:c.1166G>T, NM_001135178.2:c.1166G>T, XM_011526229.3:c.1223G>T, XM_011526229.2:c.1223G>T, XM_011526229.1:c.1223G>T, XM_006722558.3:c.1223G>T, XM_006722558.2:c.1223G>T, XM_006722558.1:c.1223G>T, XM_011526230.3:c.1223G>T, XM_011526230.2:c.1223G>T, XM_011526230.1:c.1223G>T, XM_011526231.3:c.1166G>T, XM_011526231.2:c.1166G>T, XM_011526231.1:c.1166G>T, XM_024451275.2:c.347G>T, XM_024451275.1:c.347G>T, XM_047437888.1:c.1166G>T, XM_047437889.1:c.1166G>T, XM_047437890.1:c.347G>T, NP_001128650.1:p.Arg389Ile, XP_011524531.1:p.Arg408Ile, XP_006722621.1:p.Arg408Ile, XP_011524532.1:p.Arg408Ile, XP_011524533.1:p.Arg389Ile, XP_024307043.1:p.Arg116Ile, XP_047293844.1:p.Arg389Ile, XP_047293845.1:p.Arg389Ile, XP_047293846.1:p.Arg116Ile

Select item 147347678814.

rs1473476788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:35245528 (GRCh38)
18:32825492 (GRCh37)
Canonical SPDI:: NC_000018.10:35245527:T:C
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35245528T>C, NC_000018.9:g.32825492T>C, NG_015815.1:g.9499T>C, NM_001135178.3:c.823T>C, NM_001135178.2:c.823T>C, XM_011526229.3:c.880T>C, XM_011526229.2:c.880T>C, XM_011526229.1:c.880T>C, XM_006722558.3:c.880T>C, XM_006722558.2:c.880T>C, XM_006722558.1:c.880T>C, XM_011526230.3:c.880T>C, XM_011526230.2:c.880T>C, XM_011526230.1:c.880T>C, XM_011526231.3:c.823T>C, XM_011526231.2:c.823T>C, XM_011526231.1:c.823T>C, XM_024451275.2:c.4T>C, XM_024451275.1:c.4T>C, XM_047437888.1:c.823T>C, XM_047437889.1:c.823T>C, XM_047437890.1:c.4T>C, NP_001128650.1:p.Cys275Arg, XP_011524531.1:p.Cys294Arg, XP_006722621.1:p.Cys294Arg, XP_011524532.1:p.Cys294Arg, XP_011524533.1:p.Cys275Arg, XP_024307043.1:p.Cys2Arg, XP_047293844.1:p.Cys275Arg, XP_047293845.1:p.Cys275Arg, XP_047293846.1:p.Cys2Arg

Select item 147239173115.

rs1472391731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 18:35245321 (GRCh38)
18:32825285 (GRCh37)
Canonical SPDI:: NC_000018.10:35245320:C:A,NC_000018.10:35245320:C:G,NC_000018.10:35245320:C:T
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35245321C>A, NC_000018.10:g.35245321C>G, NC_000018.10:g.35245321C>T, NC_000018.9:g.32825285C>A, NC_000018.9:g.32825285C>G, NC_000018.9:g.32825285C>T, NG_015815.1:g.9292C>A, NG_015815.1:g.9292C>G, NG_015815.1:g.9292C>T, NM_001135178.3:c.616C>A, NM_001135178.3:c.616C>G, NM_001135178.3:c.616C>T, NM_001135178.2:c.616C>A, NM_001135178.2:c.616C>G, NM_001135178.2:c.616C>T, NM_032347.3:c.616C>A, NM_032347.3:c.616C>G, NM_032347.3:c.616C>T, NM_032347.2:c.616C>A, NM_032347.2:c.616C>G, NM_032347.2:c.616C>T, XM_011526229.3:c.673C>A, XM_011526229.3:c.673C>G, XM_011526229.3:c.673C>T, XM_011526229.2:c.673C>A, XM_011526229.2:c.673C>G, XM_011526229.2:c.673C>T, XM_011526229.1:c.673C>A, XM_011526229.1:c.673C>G, XM_011526229.1:c.673C>T, XM_006722558.3:c.673C>A, XM_006722558.3:c.673C>G, XM_006722558.3:c.673C>T, XM_006722558.2:c.673C>A, XM_006722558.2:c.673C>G, XM_006722558.2:c.673C>T, XM_006722558.1:c.673C>A, XM_006722558.1:c.673C>G, XM_006722558.1:c.673C>T, XM_011526230.3:c.673C>A, XM_011526230.3:c.673C>G, XM_011526230.3:c.673C>T, XM_011526230.2:c.673C>A, XM_011526230.2:c.673C>G, XM_011526230.2:c.673C>T, XM_011526230.1:c.673C>A, XM_011526230.1:c.673C>G, XM_011526230.1:c.673C>T, XM_011526231.3:c.616C>A, XM_011526231.3:c.616C>G, XM_011526231.3:c.616C>T, XM_011526231.2:c.616C>A, XM_011526231.2:c.616C>G, XM_011526231.2:c.616C>T, XM_011526231.1:c.616C>A, XM_011526231.1:c.616C>G, XM_011526231.1:c.616C>T, XM_024451275.2:c.-204C>A, XM_024451275.2:c.-204C>G, XM_024451275.2:c.-204C>T, XM_024451275.1:c.-204C>A, XM_024451275.1:c.-204C>G, XM_024451275.1:c.-204C>T, XM_047437888.1:c.616C>A, XM_047437888.1:c.616C>G, XM_047437888.1:c.616C>T, XM_047437889.1:c.616C>A, XM_047437889.1:c.616C>G, XM_047437889.1:c.616C>T, XM_047437890.1:c.-204C>A, XM_047437890.1:c.-204C>G, XM_047437890.1:c.-204C>T, NP_001128650.1:p.Leu206Ile, NP_001128650.1:p.Leu206Val, NP_001128650.1:p.Leu206Phe, NP_115723.1:p.Leu206Ile, NP_115723.1:p.Leu206Val, NP_115723.1:p.Leu206Phe, XP_011524531.1:p.Leu225Ile, XP_011524531.1:p.Leu225Val, XP_011524531.1:p.Leu225Phe, XP_006722621.1:p.Leu225Ile, XP_006722621.1:p.Leu225Val, XP_006722621.1:p.Leu225Phe, XP_011524532.1:p.Leu225Ile, XP_011524532.1:p.Leu225Val, XP_011524532.1:p.Leu225Phe, XP_011524533.1:p.Leu206Ile, XP_011524533.1:p.Leu206Val, XP_011524533.1:p.Leu206Phe, XP_047293844.1:p.Leu206Ile, XP_047293844.1:p.Leu206Val, XP_047293844.1:p.Leu206Phe, XP_047293845.1:p.Leu206Ile, XP_047293845.1:p.Leu206Val, XP_047293845.1:p.Leu206Phe

Select item 147129490116.

rs1471294901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:35245641 (GRCh38)
18:32825605 (GRCh37)
Canonical SPDI:: NC_000018.10:35245640:C:G,NC_000018.10:35245640:C:T
Gene:: ZNF397 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35245641C>G, NC_000018.10:g.35245641C>T, NC_000018.9:g.32825605C>G, NC_000018.9:g.32825605C>T, NG_015815.1:g.9612C>G, NG_015815.1:g.9612C>T, NM_001135178.3:c.936C>G, NM_001135178.3:c.936C>T, NM_001135178.2:c.936C>G, NM_001135178.2:c.936C>T, XM_011526229.3:c.993C>G, XM_011526229.3:c.993C>T, XM_011526229.2:c.993C>G, XM_011526229.2:c.993C>T, XM_011526229.1:c.993C>G, XM_011526229.1:c.993C>T, XM_006722558.3:c.993C>G, XM_006722558.3:c.993C>T, XM_006722558.2:c.993C>G, XM_006722558.2:c.993C>T, XM_006722558.1:c.993C>G, XM_006722558.1:c.993C>T, XM_011526230.3:c.993C>G, XM_011526230.3:c.993C>T, XM_011526230.2:c.993C>G, XM_011526230.2:c.993C>T, XM_011526230.1:c.993C>G, XM_011526230.1:c.993C>T, XM_011526231.3:c.936C>G, XM_011526231.3:c.936C>T, XM_011526231.2:c.936C>G, XM_011526231.2:c.936C>T, XM_011526231.1:c.936C>G, XM_011526231.1:c.936C>T, XM_024451275.2:c.117C>G, XM_024451275.2:c.117C>T, XM_024451275.1:c.117C>G, XM_024451275.1:c.117C>T, XM_047437888.1:c.936C>G, XM_047437888.1:c.936C>T, XM_047437889.1:c.936C>G, XM_047437889.1:c.936C>T, XM_047437890.1:c.117C>G, XM_047437890.1:c.117C>T

Select item 147043137517.

rs1470431375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:35246115 (GRCh38)
18:32826079 (GRCh37)
Canonical SPDI:: NC_000018.10:35246114:A:C,NC_000018.10:35246114:A:G
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35246115A>C, NC_000018.10:g.35246115A>G, NC_000018.9:g.32826079A>C, NC_000018.9:g.32826079A>G, NG_015815.1:g.10086A>C, NG_015815.1:g.10086A>G, NM_001135178.3:c.1410A>C, NM_001135178.3:c.1410A>G, NM_001135178.2:c.1410A>C, NM_001135178.2:c.1410A>G, XM_011526229.3:c.1467A>C, XM_011526229.3:c.1467A>G, XM_011526229.2:c.1467A>C, XM_011526229.2:c.1467A>G, XM_011526229.1:c.1467A>C, XM_011526229.1:c.1467A>G, XM_006722558.3:c.1467A>C, XM_006722558.3:c.1467A>G, XM_006722558.2:c.1467A>C, XM_006722558.2:c.1467A>G, XM_006722558.1:c.1467A>C, XM_006722558.1:c.1467A>G, XM_011526230.3:c.1467A>C, XM_011526230.3:c.1467A>G, XM_011526230.2:c.1467A>C, XM_011526230.2:c.1467A>G, XM_011526230.1:c.1467A>C, XM_011526230.1:c.1467A>G, XM_011526231.3:c.1410A>C, XM_011526231.3:c.1410A>G, XM_011526231.2:c.1410A>C, XM_011526231.2:c.1410A>G, XM_011526231.1:c.1410A>C, XM_011526231.1:c.1410A>G, XM_024451275.2:c.591A>C, XM_024451275.2:c.591A>G, XM_024451275.1:c.591A>C, XM_024451275.1:c.591A>G, XM_047437888.1:c.1410A>C, XM_047437888.1:c.1410A>G, XM_047437889.1:c.1410A>C, XM_047437889.1:c.1410A>G, XM_047437890.1:c.591A>C, XM_047437890.1:c.591A>G, NP_001128650.1:p.Arg470Ser, XP_011524531.1:p.Arg489Ser, XP_006722621.1:p.Arg489Ser, XP_011524532.1:p.Arg489Ser, XP_011524533.1:p.Arg470Ser, XP_024307043.1:p.Arg197Ser, XP_047293844.1:p.Arg470Ser, XP_047293845.1:p.Arg470Ser, XP_047293846.1:p.Arg197Ser

Select item 146815924018.

rs1468159240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:35246022 (GRCh38)
18:32825986 (GRCh37)
Canonical SPDI:: NC_000018.10:35246021:G:A
Gene:: ZNF397 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35246022G>A, NC_000018.9:g.32825986G>A, NG_015815.1:g.9993G>A, NM_001135178.3:c.1317G>A, NM_001135178.2:c.1317G>A, XM_011526229.3:c.1374G>A, XM_011526229.2:c.1374G>A, XM_011526229.1:c.1374G>A, XM_006722558.3:c.1374G>A, XM_006722558.2:c.1374G>A, XM_006722558.1:c.1374G>A, XM_011526230.3:c.1374G>A, XM_011526230.2:c.1374G>A, XM_011526230.1:c.1374G>A, XM_011526231.3:c.1317G>A, XM_011526231.2:c.1317G>A, XM_011526231.1:c.1317G>A, XM_024451275.2:c.498G>A, XM_024451275.1:c.498G>A, XM_047437888.1:c.1317G>A, XM_047437889.1:c.1317G>A, XM_047437890.1:c.498G>A

Select item 146651896419.

rs1466518964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:35243264 (GRCh38)
18:32823228 (GRCh37)
Canonical SPDI:: NC_000018.10:35243263:C:T
Gene:: ZNF397 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.35243264C>T, NC_000018.9:g.32823228C>T, NG_015815.1:g.7235C>T, NM_001135178.3:c.527C>T, NM_001135178.2:c.527C>T, NM_032347.3:c.527C>T, NM_032347.2:c.527C>T, XM_011526229.3:c.584C>T, XM_011526229.2:c.584C>T, XM_011526229.1:c.584C>T, XM_006722558.3:c.584C>T, XM_006722558.2:c.584C>T, XM_006722558.1:c.584C>T, XM_011526230.3:c.584C>T, XM_011526230.2:c.584C>T, XM_011526230.1:c.584C>T, XM_011526231.3:c.527C>T, XM_011526231.2:c.527C>T, XM_011526231.1:c.527C>T, XM_047437888.1:c.527C>T, XM_047437889.1:c.527C>T, XM_047437890.1:c.-293C>T, NP_001128650.1:p.Ser176Phe, NP_115723.1:p.Ser176Phe, XP_011524531.1:p.Ser195Phe, XP_006722621.1:p.Ser195Phe, XP_011524532.1:p.Ser195Phe, XP_011524533.1:p.Ser176Phe, XP_047293844.1:p.Ser176Phe, XP_047293845.1:p.Ser176Phe

Select item 146270734820.

rs1462707348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:35245772 (GRCh38)
18:32825736 (GRCh37)
Canonical SPDI:: NC_000018.10:35245771:T:C
Gene:: ZNF397 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.35245772T>C, NC_000018.9:g.32825736T>C, NG_015815.1:g.9743T>C, NM_001135178.3:c.1067T>C, NM_001135178.2:c.1067T>C, XM_011526229.3:c.1124T>C, XM_011526229.2:c.1124T>C, XM_011526229.1:c.1124T>C, XM_006722558.3:c.1124T>C, XM_006722558.2:c.1124T>C, XM_006722558.1:c.1124T>C, XM_011526230.3:c.1124T>C, XM_011526230.2:c.1124T>C, XM_011526230.1:c.1124T>C, XM_011526231.3:c.1067T>C, XM_011526231.2:c.1067T>C, XM_011526231.1:c.1067T>C, XM_024451275.2:c.248T>C, XM_024451275.1:c.248T>C, XM_047437888.1:c.1067T>C, XM_047437889.1:c.1067T>C, XM_047437890.1:c.248T>C, NP_001128650.1:p.Leu356Pro, XP_011524531.1:p.Leu375Pro, XP_006722621.1:p.Leu375Pro, XP_011524532.1:p.Leu375Pro, XP_011524533.1:p.Leu356Pro, XP_024307043.1:p.Leu83Pro, XP_047293844.1:p.Leu356Pro, XP_047293845.1:p.Leu356Pro, XP_047293846.1:p.Leu83Pro

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