SNP Links for Protein (Select 37577172) - SNP

Links from Protein

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Select item 14896693331.

rs1489669333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:20699789 (GRCh38)
14:21167948 (GRCh37)
Canonical SPDI:: NC_000014.9:20699788:C:G
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000014.9:g.20699789C>G, NC_000014.8:g.21167948C>G, NG_008717.2:g.20613C>G, NG_033053.1:g.20577C>G, NM_002937.5:c.418C>G, NM_002937.4:c.418C>G, NM_002937.3:c.418C>G, NM_194431.3:c.418C>G, NM_194431.2:c.418C>G, NM_194431.1:c.418C>G, NM_001282192.2:c.418C>G, NM_001282192.1:c.418C>G, NM_001282193.2:c.418C>G, NM_001282193.1:c.418C>G, NM_194430.1:c.418C>G, NP_002928.1:p.Gln140Glu, NP_919412.1:p.Gln140Glu, NP_001269121.1:p.Gln140Glu, NP_001269122.1:p.Gln140Glu

Select item 14752661462.

rs1475266146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699510 (GRCh38)
14:21167669 (GRCh37)
Canonical SPDI:: NC_000014.9:20699509:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20699510G>A, NC_000014.8:g.21167669G>A, NG_008717.2:g.20334G>A, NG_033053.1:g.20298G>A, NM_002937.5:c.139G>A, NM_002937.4:c.139G>A, NM_002937.3:c.139G>A, NM_194431.3:c.139G>A, NM_194431.2:c.139G>A, NM_194431.1:c.139G>A, NM_001282192.2:c.139G>A, NM_001282192.1:c.139G>A, NM_001282193.2:c.139G>A, NM_001282193.1:c.139G>A, NM_194430.1:c.139G>A, NP_002928.1:p.Gly47Ser, NP_919412.1:p.Gly47Ser, NP_001269121.1:p.Gly47Ser, NP_001269122.1:p.Gly47Ser

Select item 14664235573.

rs1466423557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:20699409 (GRCh38)
14:21167568 (GRCh37)
Canonical SPDI:: NC_000014.9:20699408:T:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699409T>A, NC_000014.8:g.21167568T>A, NG_008717.2:g.20233T>A, NG_033053.1:g.20197T>A, NM_002937.5:c.38T>A, NM_002937.4:c.38T>A, NM_002937.3:c.38T>A, NM_194431.3:c.38T>A, NM_194431.2:c.38T>A, NM_194431.1:c.38T>A, NM_001282192.2:c.38T>A, NM_001282192.1:c.38T>A, NM_001282193.2:c.38T>A, NM_001282193.1:c.38T>A, NM_194430.1:c.38T>A, NR_174964.1:n.285A>T, NP_002928.1:p.Leu13Ter, NP_919412.1:p.Leu13Ter, NP_001269121.1:p.Leu13Ter, NP_001269122.1:p.Leu13Ter

Select item 14645545824.

rs1464554582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699536 (GRCh38)
14:21167695 (GRCh37)
Canonical SPDI:: NC_000014.9:20699535:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.20699536G>A, NC_000014.8:g.21167695G>A, NG_008717.2:g.20360G>A, NG_033053.1:g.20324G>A, NM_002937.5:c.165G>A, NM_002937.4:c.165G>A, NM_002937.3:c.165G>A, NM_194431.3:c.165G>A, NM_194431.2:c.165G>A, NM_194431.1:c.165G>A, NM_001282192.2:c.165G>A, NM_001282192.1:c.165G>A, NM_001282193.2:c.165G>A, NM_001282193.1:c.165G>A, NM_194430.1:c.165G>A

Select item 14638992525.

rs1463899252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:20699376 (GRCh38)
14:21167535 (GRCh37)
Canonical SPDI:: NC_000014.9:20699375:C:G
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000014.9:g.20699376C>G, NC_000014.8:g.21167535C>G, NG_008717.2:g.20200C>G, NG_033053.1:g.20164C>G, NM_002937.5:c.5C>G, NM_002937.4:c.5C>G, NM_002937.3:c.5C>G, NM_194431.3:c.5C>G, NM_194431.2:c.5C>G, NM_194431.1:c.5C>G, NM_001282192.2:c.5C>G, NM_001282192.1:c.5C>G, NM_001282193.2:c.5C>G, NM_001282193.1:c.5C>G, NM_194430.1:c.5C>G, NR_174964.1:n.318G>C, NP_002928.1:p.Ala2Gly, NP_919412.1:p.Ala2Gly, NP_001269121.1:p.Ala2Gly, NP_001269122.1:p.Ala2Gly

Select item 14633446966.

rs1463344696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:20699743 (GRCh38)
14:21167902 (GRCh37)
Canonical SPDI:: NC_000014.9:20699742:C:A,NC_000014.9:20699742:C:T
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: synonymous_variant,intron_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_000014.9:g.20699743C>A, NC_000014.9:g.20699743C>T, NC_000014.8:g.21167902C>A, NC_000014.8:g.21167902C>T, NG_008717.2:g.20567C>A, NG_008717.2:g.20567C>T, NG_033053.1:g.20531C>A, NG_033053.1:g.20531C>T, NM_002937.5:c.372C>A, NM_002937.5:c.372C>T, NM_002937.4:c.372C>A, NM_002937.4:c.372C>T, NM_002937.3:c.372C>A, NM_002937.3:c.372C>T, NM_194431.3:c.372C>A, NM_194431.3:c.372C>T, NM_194431.2:c.372C>A, NM_194431.2:c.372C>T, NM_194431.1:c.372C>A, NM_194431.1:c.372C>T, NM_001282192.2:c.372C>A, NM_001282192.2:c.372C>T, NM_001282192.1:c.372C>A, NM_001282192.1:c.372C>T, NM_001282193.2:c.372C>A, NM_001282193.2:c.372C>T, NM_001282193.1:c.372C>A, NM_001282193.1:c.372C>T, NM_194430.1:c.372C>A, NM_194430.1:c.372C>T

Select item 14626178217.

rs1462617821 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:20699528 (GRCh38)
14:21167687 (GRCh37)
Canonical SPDI:: NC_000014.9:20699527:T:
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20699528del, NC_000014.8:g.21167687del, NG_008717.2:g.20352del, NG_033053.1:g.20316del, NM_002937.5:c.157del, NM_002937.4:c.157del, NM_002937.3:c.157del, NM_194431.3:c.157del, NM_194431.2:c.157del, NM_194431.1:c.157del, NM_001282192.2:c.157del, NM_001282192.1:c.157del, NM_001282193.2:c.157del, NM_001282193.1:c.157del, NM_194430.1:c.157del, NP_002928.1:p.Cys53fs, NP_919412.1:p.Cys53fs, NP_001269121.1:p.Cys53fs, NP_001269122.1:p.Cys53fs

Select item 14594597208.

rs1459459720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:20699652 (GRCh38)
14:21167811 (GRCh37)
Canonical SPDI:: NC_000014.9:20699651:A:T
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699652A>T, NC_000014.8:g.21167811A>T, NG_008717.2:g.20476A>T, NG_033053.1:g.20440A>T, NM_002937.5:c.281A>T, NM_002937.4:c.281A>T, NM_002937.3:c.281A>T, NM_194431.3:c.281A>T, NM_194431.2:c.281A>T, NM_194431.1:c.281A>T, NM_001282192.2:c.281A>T, NM_001282192.1:c.281A>T, NM_001282193.2:c.281A>T, NM_001282193.1:c.281A>T, NM_194430.1:c.281A>T, NP_002928.1:p.Asn94Ile, NP_919412.1:p.Asn94Ile, NP_001269121.1:p.Asn94Ile, NP_001269122.1:p.Asn94Ile

Select item 14462675309.

rs1446267530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:20699591 (GRCh38)
14:21167750 (GRCh37)
Canonical SPDI:: NC_000014.9:20699590:A:C
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20699591A>C, NC_000014.8:g.21167750A>C, NG_008717.2:g.20415A>C, NG_033053.1:g.20379A>C, NM_002937.5:c.220A>C, NM_002937.4:c.220A>C, NM_002937.3:c.220A>C, NM_194431.3:c.220A>C, NM_194431.2:c.220A>C, NM_194431.1:c.220A>C, NM_001282192.2:c.220A>C, NM_001282192.1:c.220A>C, NM_001282193.2:c.220A>C, NM_001282193.1:c.220A>C, NM_194430.1:c.220A>C, NP_002928.1:p.Ile74Leu, NP_919412.1:p.Ile74Leu, NP_001269121.1:p.Ile74Leu, NP_001269122.1:p.Ile74Leu

Select item 143592988910.

rs1435929889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699433 (GRCh38)
14:21167592 (GRCh37)
Canonical SPDI:: NC_000014.9:20699432:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699433G>A, NC_000014.8:g.21167592G>A, NG_008717.2:g.20257G>A, NG_033053.1:g.20221G>A, NM_002937.5:c.62G>A, NM_002937.4:c.62G>A, NM_002937.3:c.62G>A, NM_194431.3:c.62G>A, NM_194431.2:c.62G>A, NM_194431.1:c.62G>A, NM_001282192.2:c.62G>A, NM_001282192.1:c.62G>A, NM_001282193.2:c.62G>A, NM_001282193.1:c.62G>A, NM_194430.1:c.62G>A, NR_174964.1:n.261C>T, NP_002928.1:p.Gly21Glu, NP_919412.1:p.Gly21Glu, NP_001269121.1:p.Gly21Glu, NP_001269122.1:p.Gly21Glu

Select item 143499747011.

rs1434997470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699386 (GRCh38)
14:21167545 (GRCh37)
Canonical SPDI:: NC_000014.9:20699385:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699386G>A, NC_000014.8:g.21167545G>A, NG_008717.2:g.20210G>A, NG_033053.1:g.20174G>A, NM_002937.5:c.15G>A, NM_002937.4:c.15G>A, NM_002937.3:c.15G>A, NM_194431.3:c.15G>A, NM_194431.2:c.15G>A, NM_194431.1:c.15G>A, NM_001282192.2:c.15G>A, NM_001282192.1:c.15G>A, NM_001282193.2:c.15G>A, NM_001282193.1:c.15G>A, NM_194430.1:c.15G>A, NR_174964.1:n.308C>T

Select item 143369172212.

rs1433691722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:20699560 (GRCh38)
14:21167719 (GRCh37)
Canonical SPDI:: NC_000014.9:20699559:T:G
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.20699560T>G, NC_000014.8:g.21167719T>G, NG_008717.2:g.20384T>G, NG_033053.1:g.20348T>G, NM_002937.5:c.189T>G, NM_002937.4:c.189T>G, NM_002937.3:c.189T>G, NM_194431.3:c.189T>G, NM_194431.2:c.189T>G, NM_194431.1:c.189T>G, NM_001282192.2:c.189T>G, NM_001282192.1:c.189T>G, NM_001282193.2:c.189T>G, NM_001282193.1:c.189T>G, NM_194430.1:c.189T>G

Select item 143003891313.

rs1430038913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:20699797 (GRCh38)
14:21167956 (GRCh37)
Canonical SPDI:: NC_000014.9:20699796:T:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000531/9 (TOMMO)
HGVS:: NC_000014.9:g.20699797T>A, NC_000014.8:g.21167956T>A, NG_008717.2:g.20621T>A, NG_033053.1:g.20585T>A, NM_002937.5:c.426T>A, NM_002937.4:c.426T>A, NM_002937.3:c.426T>A, NM_194431.3:c.426T>A, NM_194431.2:c.426T>A, NM_194431.1:c.426T>A, NM_001282192.2:c.426T>A, NM_001282192.1:c.426T>A, NM_001282193.2:c.426T>A, NM_001282193.1:c.426T>A, NM_194430.1:c.426T>A

Select item 140976766114.

rs1409767661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:20699463 (GRCh38)
14:21167622 (GRCh37)
Canonical SPDI:: NC_000014.9:20699462:G:T
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699463G>T, NC_000014.8:g.21167622G>T, NG_008717.2:g.20287G>T, NG_033053.1:g.20251G>T, NM_002937.5:c.92G>T, NM_002937.4:c.92G>T, NM_002937.3:c.92G>T, NM_194431.3:c.92G>T, NM_194431.2:c.92G>T, NM_194431.1:c.92G>T, NM_001282192.2:c.92G>T, NM_001282192.1:c.92G>T, NM_001282193.2:c.92G>T, NM_001282193.1:c.92G>T, NM_194430.1:c.92G>T, NR_174964.1:n.231C>A, NP_002928.1:p.Gly31Val, NP_919412.1:p.Gly31Val, NP_001269121.1:p.Gly31Val, NP_001269122.1:p.Gly31Val

Select item 139975416915.

rs1399754169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20699603 (GRCh38)
14:21167762 (GRCh37)
Canonical SPDI:: NC_000014.9:20699602:A:G
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699603A>G, NC_000014.8:g.21167762A>G, NG_008717.2:g.20427A>G, NG_033053.1:g.20391A>G, NM_002937.5:c.232A>G, NM_002937.4:c.232A>G, NM_002937.3:c.232A>G, NM_194431.3:c.232A>G, NM_194431.2:c.232A>G, NM_194431.1:c.232A>G, NM_001282192.2:c.232A>G, NM_001282192.1:c.232A>G, NM_001282193.2:c.232A>G, NM_001282193.1:c.232A>G, NM_194430.1:c.232A>G, NP_002928.1:p.Ile78Val, NP_919412.1:p.Ile78Val, NP_001269121.1:p.Ile78Val, NP_001269122.1:p.Ile78Val

Select item 139572248816.

rs1395722488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699747 (GRCh38)
14:21167906 (GRCh37)
Canonical SPDI:: NC_000014.9:20699746:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699747G>A, NC_000014.8:g.21167906G>A, NG_008717.2:g.20571G>A, NG_033053.1:g.20535G>A, NM_002937.5:c.376G>A, NM_002937.4:c.376G>A, NM_002937.3:c.376G>A, NM_194431.3:c.376G>A, NM_194431.2:c.376G>A, NM_194431.1:c.376G>A, NM_001282192.2:c.376G>A, NM_001282192.1:c.376G>A, NM_001282193.2:c.376G>A, NM_001282193.1:c.376G>A, NM_194430.1:c.376G>A, NP_002928.1:p.Ala126Thr, NP_919412.1:p.Ala126Thr, NP_001269121.1:p.Ala126Thr, NP_001269122.1:p.Ala126Thr

Select item 138984547717.

rs1389845477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20699511 (GRCh38)
14:21167670 (GRCh37)
Canonical SPDI:: NC_000014.9:20699510:G:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.20699511G>A, NC_000014.8:g.21167670G>A, NG_008717.2:g.20335G>A, NG_033053.1:g.20299G>A, NM_002937.5:c.140G>A, NM_002937.4:c.140G>A, NM_002937.3:c.140G>A, NM_194431.3:c.140G>A, NM_194431.2:c.140G>A, NM_194431.1:c.140G>A, NM_001282192.2:c.140G>A, NM_001282192.1:c.140G>A, NM_001282193.2:c.140G>A, NM_001282193.1:c.140G>A, NM_194430.1:c.140G>A, NP_002928.1:p.Gly47Asp, NP_919412.1:p.Gly47Asp, NP_001269121.1:p.Gly47Asp, NP_001269122.1:p.Gly47Asp

Select item 138219163618.

rs1382191636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:20699600 (GRCh38)
14:21167759 (GRCh37)
Canonical SPDI:: NC_000014.9:20699599:G:T
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20699600G>T, NC_000014.8:g.21167759G>T, NG_008717.2:g.20424G>T, NG_033053.1:g.20388G>T, NM_002937.5:c.229G>T, NM_002937.4:c.229G>T, NM_002937.3:c.229G>T, NM_194431.3:c.229G>T, NM_194431.2:c.229G>T, NM_194431.1:c.229G>T, NM_001282192.2:c.229G>T, NM_001282192.1:c.229G>T, NM_001282193.2:c.229G>T, NM_001282193.1:c.229G>T, NM_194430.1:c.229G>T, NP_002928.1:p.Asp77Tyr, NP_919412.1:p.Asp77Tyr, NP_001269121.1:p.Asp77Tyr, NP_001269122.1:p.Asp77Tyr

Select item 136762283019.

rs1367622830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:20699418 (GRCh38)
14:21167577 (GRCh37)
Canonical SPDI:: NC_000014.9:20699417:C:A
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.20699418C>A, NC_000014.8:g.21167577C>A, NG_008717.2:g.20242C>A, NG_033053.1:g.20206C>A, NM_002937.5:c.47C>A, NM_002937.4:c.47C>A, NM_002937.3:c.47C>A, NM_194431.3:c.47C>A, NM_194431.2:c.47C>A, NM_194431.1:c.47C>A, NM_001282192.2:c.47C>A, NM_001282192.1:c.47C>A, NM_001282193.2:c.47C>A, NM_001282193.1:c.47C>A, NM_194430.1:c.47C>A, NR_174964.1:n.276G>T, NP_002928.1:p.Thr16Asn, NP_919412.1:p.Thr16Asn, NP_001269121.1:p.Thr16Asn, NP_001269122.1:p.Thr16Asn

Select item 135559612520.

rs1355596125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 14:20699391 (GRCh38)
14:21167550 (GRCh37)
Canonical SPDI:: NC_000014.9:20699390:A:C,NC_000014.9:20699390:A:T
Gene:: RNASE4 (Varview), EGILA (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20699391A>C, NC_000014.9:g.20699391A>T, NC_000014.8:g.21167550A>C, NC_000014.8:g.21167550A>T, NG_008717.2:g.20215A>C, NG_008717.2:g.20215A>T, NG_033053.1:g.20179A>C, NG_033053.1:g.20179A>T, NM_002937.5:c.20A>C, NM_002937.5:c.20A>T, NM_002937.4:c.20A>C, NM_002937.4:c.20A>T, NM_002937.3:c.20A>C, NM_002937.3:c.20A>T, NM_194431.3:c.20A>C, NM_194431.3:c.20A>T, NM_194431.2:c.20A>C, NM_194431.2:c.20A>T, NM_194431.1:c.20A>C, NM_194431.1:c.20A>T, NM_001282192.2:c.20A>C, NM_001282192.2:c.20A>T, NM_001282192.1:c.20A>C, NM_001282192.1:c.20A>T, NM_001282193.2:c.20A>C, NM_001282193.2:c.20A>T, NM_001282193.1:c.20A>C, NM_001282193.1:c.20A>T, NM_194430.1:c.20A>C, NM_194430.1:c.20A>T, NR_174964.1:n.303T>G, NR_174964.1:n.303T>A, NP_002928.1:p.His7Pro, NP_002928.1:p.His7Leu, NP_919412.1:p.His7Pro, NP_919412.1:p.His7Leu, NP_001269121.1:p.His7Pro, NP_001269121.1:p.His7Leu, NP_001269122.1:p.His7Pro, NP_001269122.1:p.His7Leu

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