SNP Links for Protein (Select 809281406) - SNP

Links from Protein

Items: 1 to 20 of 118

<< First< Prev

Page of 6

Next >Last >>

Select item 14870501571.

rs1487050157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:33929135 (GRCh38)
14:34398341 (GRCh37)
Canonical SPDI:: NC_000014.9:33929134:G:A,NC_000014.9:33929134:G:C
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.33929135G>A, NC_000014.9:g.33929135G>C, NC_000014.8:g.34398341G>A, NC_000014.8:g.34398341G>C, NM_022073.4:c.555C>T, NM_022073.4:c.555C>G, NM_022073.3:c.555C>T, NM_022073.3:c.555C>G, NM_001308103.2:c.273C>T, NM_001308103.2:c.273C>G, NM_001308103.1:c.273C>T, NM_001308103.1:c.273C>G, NM_033344.1:c.555C>T, NM_033344.1:c.555C>G

Select item 14763005292.

rs1476300529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33929178 (GRCh38)
14:34398384 (GRCh37)
Canonical SPDI:: NC_000014.9:33929177:C:T
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33929178C>T, NC_000014.8:g.34398384C>T, NM_022073.4:c.512G>A, NM_022073.3:c.512G>A, NM_001308103.2:c.230G>A, NM_001308103.1:c.230G>A, NM_033344.1:c.512G>A, NP_071356.1:p.Gly171Glu, NP_001295032.1:p.Gly77Glu

Select item 14748116423.

rs1474811642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:33931160 (GRCh38)
14:34400366 (GRCh37)
Canonical SPDI:: NC_000014.9:33931159:T:C
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.33931160T>C, NC_000014.8:g.34400366T>C, NM_022073.4:c.413A>G, NM_022073.3:c.413A>G, NM_001308103.2:c.131A>G, NM_001308103.1:c.131A>G, NM_033344.1:c.413A>G, NP_071356.1:p.Asn138Ser, NP_001295032.1:p.Asn44Ser

Select item 14744867514.

rs1474486751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:33925907 (GRCh38)
14:34395113 (GRCh37)
Canonical SPDI:: NC_000014.9:33925906:G:A
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.33925907G>A, NC_000014.8:g.34395113G>A, NM_022073.4:c.704C>T, NM_022073.3:c.704C>T, NM_001308103.2:c.422C>T, NM_001308103.1:c.422C>T, NM_033344.1:c.704C>T, NP_071356.1:p.Ala235Val, NP_001295032.1:p.Ala141Val

Select item 14677839095.

rs1467783909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33927015 (GRCh38)
14:34396221 (GRCh37)
Canonical SPDI:: NC_000014.9:33927014:C:T
Gene:: EGLN3 (Varview)
Functional Consequence:: stop_gained,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.33927015C>T, NC_000014.8:g.34396221C>T, NM_022073.4:c.633G>A, NM_022073.3:c.633G>A, NM_001308103.2:c.351G>A, NM_001308103.1:c.351G>A, NM_033344.1:c.633G>A, NP_071356.1:p.Trp211Ter, NP_001295032.1:p.Trp117Ter

Select item 14668219256.

rs1466821925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:33950709 (GRCh38)
14:34419915 (GRCh37)
Canonical SPDI:: NC_000014.9:33950708:G:A
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33950709G>A, NC_000014.8:g.34419915G>A, NM_022073.4:c.44C>T, NM_022073.3:c.44C>T, NM_001308103.2:c.44C>T, NM_001308103.1:c.44C>T, NM_033344.1:c.44C>T, NP_071356.1:p.Ala15Val, NP_001295032.1:p.Ala15Val

Select item 14598522477.

rs1459852247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:33925906 (GRCh38)
14:34395112 (GRCh37)
Canonical SPDI:: NC_000014.9:33925905:G:A,NC_000014.9:33925905:G:C
Gene:: EGLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.33925906G>A, NC_000014.9:g.33925906G>C, NC_000014.8:g.34395112G>A, NC_000014.8:g.34395112G>C, NM_022073.4:c.705C>T, NM_022073.4:c.705C>G, NM_022073.3:c.705C>T, NM_022073.3:c.705C>G, NM_001308103.2:c.423C>T, NM_001308103.2:c.423C>G, NM_001308103.1:c.423C>T, NM_001308103.1:c.423C>G, NM_033344.1:c.705C>T, NM_033344.1:c.705C>G

Select item 14521889798.

rs1452188979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:33929163 (GRCh38)
14:34398369 (GRCh37)
Canonical SPDI:: NC_000014.9:33929162:G:C
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.33929163G>C, NC_000014.8:g.34398369G>C, NM_022073.4:c.527C>G, NM_022073.3:c.527C>G, NM_001308103.2:c.245C>G, NM_001308103.1:c.245C>G, NM_033344.1:c.527C>G, NP_071356.1:p.Ala176Gly, NP_001295032.1:p.Ala82Gly

Select item 14428361299.

rs1442836129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:33931154 (GRCh38)
14:34400360 (GRCh37)
Canonical SPDI:: NC_000014.9:33931153:T:C
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33931154T>C, NC_000014.8:g.34400360T>C, NM_022073.4:c.419A>G, NM_022073.3:c.419A>G, NM_001308103.2:c.137A>G, NM_001308103.1:c.137A>G, NM_033344.1:c.419A>G, NP_071356.1:p.Asn140Ser, NP_001295032.1:p.Asn46Ser

Select item 144162409810.

rs1441624098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:33929123 (GRCh38)
14:34398329 (GRCh37)
Canonical SPDI:: NC_000014.9:33929122:C:A,NC_000014.9:33929122:C:G
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.33929123C>A, NC_000014.9:g.33929123C>G, NC_000014.8:g.34398329C>A, NC_000014.8:g.34398329C>G, NM_022073.4:c.567G>T, NM_022073.4:c.567G>C, NM_022073.3:c.567G>T, NM_022073.3:c.567G>C, NM_001308103.2:c.285G>T, NM_001308103.2:c.285G>C, NM_001308103.1:c.285G>T, NM_001308103.1:c.285G>C, NM_033344.1:c.567G>T, NM_033344.1:c.567G>C, NP_071356.1:p.Trp189Cys, NP_071356.1:p.Trp189Cys, NP_001295032.1:p.Trp95Cys, NP_001295032.1:p.Trp95Cys

Select item 143771711511.

rs1437717115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:33929148 (GRCh38)
14:34398354 (GRCh37)
Canonical SPDI:: NC_000014.9:33929147:A:T
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33929148A>T, NC_000014.8:g.34398354A>T, NM_022073.4:c.542T>A, NM_022073.3:c.542T>A, NM_001308103.2:c.260T>A, NM_001308103.1:c.260T>A, NM_033344.1:c.542T>A, NP_071356.1:p.Ile181Asn, NP_001295032.1:p.Ile87Asn

Select item 143316082412.

rs1433160824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:33929145 (GRCh38)
14:34398351 (GRCh37)
Canonical SPDI:: NC_000014.9:33929144:A:G
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.33929145A>G, NC_000014.8:g.34398351A>G, NM_022073.4:c.545T>C, NM_022073.3:c.545T>C, NM_001308103.2:c.263T>C, NM_001308103.1:c.263T>C, NM_033344.1:c.545T>C, NP_071356.1:p.Phe182Ser, NP_001295032.1:p.Phe88Ser

Select item 141464266013.

rs1414642660 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACC>- [Show Flanks]
Chromosome:: 14:33931207 (GRCh38)
14:34400413 (GRCh37)
Canonical SPDI:: NC_000014.9:33931205:CCACC:C
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33931207_33931210del, NC_000014.8:g.34400413_34400416del, NM_022073.4:c.364_367del, NM_022073.3:c.364_367del, NM_001308103.2:c.82_85del, NM_001308103.1:c.82_85del, NM_033344.1:c.364_367del, NP_071356.1:p.Val122fs, NP_001295032.1:p.Val28fs

Select item 140647256614.

rs1406472566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:33950746 (GRCh38)
14:34419952 (GRCh37)
Canonical SPDI:: NC_000014.9:33950745:G:A
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.33950746G>A, NC_000014.8:g.34419952G>A, NM_022073.4:c.7C>T, NM_022073.3:c.7C>T, NM_001308103.2:c.7C>T, NM_001308103.1:c.7C>T, NM_033344.1:c.7C>T

Select item 139572496415.

rs1395724964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:33929189 (GRCh38)
14:34398395 (GRCh37)
Canonical SPDI:: NC_000014.9:33929188:T:C
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33929189T>C, NC_000014.8:g.34398395T>C, NM_022073.4:c.501A>G, NM_022073.3:c.501A>G, NM_001308103.2:c.219A>G, NM_001308103.1:c.219A>G, NM_033344.1:c.501A>G, NP_071356.1:p.Ile167Met, NP_001295032.1:p.Ile73Met

Select item 139301577216.

rs1393015772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33925922 (GRCh38)
14:34395128 (GRCh37)
Canonical SPDI:: NC_000014.9:33925921:C:T
Gene:: EGLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33925922C>T, NC_000014.8:g.34395128C>T, NM_022073.4:c.689G>A, NM_022073.3:c.689G>A, NM_001308103.2:c.407G>A, NM_001308103.1:c.407G>A, NM_033344.1:c.689G>A, NP_071356.1:p.Arg230Lys, NP_001295032.1:p.Arg136Lys

Select item 135759217817.

rs1357592178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:33927010 (GRCh38)
14:34396216 (GRCh37)
Canonical SPDI:: NC_000014.9:33927009:A:G
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.33927010A>G, NC_000014.8:g.34396216A>G, NM_022073.4:c.638T>C, NM_022073.3:c.638T>C, NM_001308103.2:c.356T>C, NM_001308103.1:c.356T>C, NM_033344.1:c.638T>C, NP_071356.1:p.Phe213Ser, NP_001295032.1:p.Phe119Ser

Select item 135100559718.

rs1351005597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:33925905 (GRCh38)
14:34395111 (GRCh37)
Canonical SPDI:: NC_000014.9:33925904:G:C
Gene:: EGLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33925905G>C, NC_000014.8:g.34395111G>C, NM_022073.4:c.706C>G, NM_022073.3:c.706C>G, NM_001308103.2:c.424C>G, NM_001308103.1:c.424C>G, NM_033344.1:c.706C>G, NP_071356.1:p.Leu236Val, NP_001295032.1:p.Leu142Val

Select item 134992403619.

rs1349924036 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:33931102 (GRCh38)
14:34400309 (GRCh37)
Canonical SPDI:: NC_000014.9:33931102:T:TT
Gene:: EGLN3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.33931103dup, NC_000014.8:g.34400309dup, NM_022073.4:c.470dup, NM_022073.3:c.470dup, NM_001308103.2:c.188dup, NM_001308103.1:c.188dup, NM_033344.1:c.470dup, NP_071356.1:p.Asp157fs, NP_001295032.1:p.Asp63fs

Select item 133589604120.

rs1335896041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33929177 (GRCh38)
14:34398383 (GRCh37)
Canonical SPDI:: NC_000014.9:33929176:C:T
Gene:: EGLN3 (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)
HGVS:: NC_000014.9:g.33929177C>T, NC_000014.8:g.34398383C>T, NM_022073.4:c.513G>A, NM_022073.3:c.513G>A, NM_001308103.2:c.231G>A, NM_001308103.1:c.231G>A, NM_033344.1:c.513G>A

<< First< Prev

Page of 6

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 118

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity