SNP Links for Protein (Select 215599065) - SNP

Links from Protein

Items: 1 to 20 of 313

<< First< Prev

Page of 16

Next >Last >>

Select item 14907554501.

rs1490755450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11519126 (GRCh38)
19:11629941 (GRCh37)
Canonical SPDI:: NC_000019.10:11519125:C:T
Gene:: ECSIT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.11519126C>T, NC_000019.9:g.11629941C>T, NM_016581.5:c.45G>A, NM_016581.4:c.45G>A, NM_001142464.3:c.45G>A, NM_001142464.2:c.45G>A, NM_001142465.3:c.45G>A, NM_001142465.2:c.45G>A, NM_001243204.2:c.45G>A, NM_001243204.1:c.45G>A, NR_024551.1:n.189G>A

Select item 14891793362.

rs1489179336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11513885 (GRCh38)
19:11624700 (GRCh37)
Canonical SPDI:: NC_000019.10:11513884:T:C
Gene:: ECSIT (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11513885T>C, NC_000019.9:g.11624700T>C, NM_016581.5:c.433A>G, NM_016581.4:c.433A>G, NM_001142464.3:c.433A>G, NM_001142464.2:c.433A>G, NM_001243204.2:c.433A>G, NM_001243204.1:c.433A>G, NR_024551.1:n.577A>G, NP_057665.2:p.Asn145Asp, NP_001135936.1:p.Asn145Asp, NP_001230133.1:p.Asn145Asp

Select item 14889551623.

rs1488955162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11514143 (GRCh38)
19:11624958 (GRCh37)
Canonical SPDI:: NC_000019.10:11514142:G:A
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11514143G>A, NC_000019.9:g.11624958G>A, NM_016581.5:c.175C>T, NM_016581.4:c.175C>T, NM_001142464.3:c.175C>T, NM_001142464.2:c.175C>T, NM_001243204.2:c.175C>T, NM_001243204.1:c.175C>T, NR_024551.1:n.319C>T, NP_057665.2:p.Pro59Ser, NP_001135936.1:p.Pro59Ser, NP_001230133.1:p.Pro59Ser

Select item 14873780954.

rs1487378095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11513823 (GRCh38)
19:11624638 (GRCh37)
Canonical SPDI:: NC_000019.10:11513822:C:T
Gene:: ECSIT (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11513823C>T, NC_000019.9:g.11624638C>T, NM_016581.5:c.495G>A, NM_016581.4:c.495G>A, NM_001142464.3:c.495G>A, NM_001142464.2:c.495G>A, NM_001243204.2:c.495G>A, NM_001243204.1:c.495G>A, NR_024551.1:n.639G>A

Select item 14867372475.

rs1486737247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11513093 (GRCh38)
19:11623908 (GRCh37)
Canonical SPDI:: NC_000019.10:11513092:A:G
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11513093A>G, NC_000019.9:g.11623908A>G, NM_016581.5:c.701T>C, NM_016581.4:c.701T>C, NM_001142464.3:c.701T>C, NM_001142464.2:c.701T>C, NM_001243204.2:c.701T>C, NM_001243204.1:c.701T>C, NR_024551.1:n.845T>C, NP_057665.2:p.Met234Thr, NP_001135936.1:p.Met234Thr, NP_001230133.1:p.Met234Thr

Select item 14846009586.

rs1484600958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11519115 (GRCh38)
19:11629930 (GRCh37)
Canonical SPDI:: NC_000019.10:11519114:C:T
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00021/4 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.11519115C>T, NC_000019.9:g.11629930C>T, NM_016581.5:c.56G>A, NM_016581.4:c.56G>A, NM_001142464.3:c.56G>A, NM_001142464.2:c.56G>A, NM_001142465.3:c.56G>A, NM_001142465.2:c.56G>A, NM_001243204.2:c.56G>A, NM_001243204.1:c.56G>A, NR_024551.1:n.200G>A, NP_057665.2:p.Gly19Asp, NP_001135936.1:p.Gly19Asp, NP_001135937.1:p.Gly19Asp, NP_001230133.1:p.Gly19Asp

Select item 14806208407.

rs1480620840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11513139 (GRCh38)
19:11623954 (GRCh37)
Canonical SPDI:: NC_000019.10:11513138:G:A
Gene:: ECSIT (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.11513139G>A, NC_000019.9:g.11623954G>A, NM_016581.5:c.655C>T, NM_016581.4:c.655C>T, NM_001142464.3:c.655C>T, NM_001142464.2:c.655C>T, NM_001243204.2:c.655C>T, NM_001243204.1:c.655C>T, NR_024551.1:n.799C>T

Select item 14802863728.

rs1480286372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:11514049 (GRCh38)
19:11624864 (GRCh37)
Canonical SPDI:: NC_000019.10:11514048:A:C,NC_000019.10:11514048:A:G
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,intron_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_000019.10:g.11514049A>C, NC_000019.10:g.11514049A>G, NC_000019.9:g.11624864A>C, NC_000019.9:g.11624864A>G, NM_016581.5:c.269T>G, NM_016581.5:c.269T>C, NM_016581.4:c.269T>G, NM_016581.4:c.269T>C, NM_001142464.3:c.269T>G, NM_001142464.3:c.269T>C, NM_001142464.2:c.269T>G, NM_001142464.2:c.269T>C, NM_001243204.2:c.269T>G, NM_001243204.2:c.269T>C, NM_001243204.1:c.269T>G, NM_001243204.1:c.269T>C, NR_024551.1:n.413T>G, NR_024551.1:n.413T>C, NP_057665.2:p.Leu90Arg, NP_057665.2:p.Leu90Pro, NP_001135936.1:p.Leu90Arg, NP_001135936.1:p.Leu90Pro, NP_001230133.1:p.Leu90Arg, NP_001230133.1:p.Leu90Pro

Select item 14802349029.

rs1480234902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11513152 (GRCh38)
19:11623967 (GRCh37)
Canonical SPDI:: NC_000019.10:11513151:T:C
Gene:: ECSIT (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11513152T>C, NC_000019.9:g.11623967T>C, NM_016581.5:c.642A>G, NM_016581.4:c.642A>G, NM_001142464.3:c.642A>G, NM_001142464.2:c.642A>G, NM_001243204.2:c.642A>G, NM_001243204.1:c.642A>G, NR_024551.1:n.786A>G

Select item 147947396110.

rs1479473961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11513181 (GRCh38)
19:11623996 (GRCh37)
Canonical SPDI:: NC_000019.10:11513180:G:A
Gene:: ECSIT (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=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.11513181G>A, NC_000019.9:g.11623996G>A, NM_016581.5:c.613C>T, NM_016581.4:c.613C>T, NM_001142464.3:c.613C>T, NM_001142464.2:c.613C>T, NM_001243204.2:c.613C>T, NM_001243204.1:c.613C>T, NR_024551.1:n.757C>T, NP_057665.2:p.Pro205Ser, NP_001135936.1:p.Pro205Ser, NP_001230133.1:p.Pro205Ser

Select item 147467081811.

rs1474670818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:11507475 (GRCh38)
19:11618290 (GRCh37)
Canonical SPDI:: NC_000019.10:11507474:C:G,NC_000019.10:11507474:C:T
Gene:: ECSIT (Varview), ZNF653 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.11507475C>G, NC_000019.10:g.11507475C>T, NC_000019.9:g.11618290C>G, NC_000019.9:g.11618290C>T, NM_016581.5:c.1033G>C, NM_016581.5:c.1033G>A, NM_016581.4:c.1033G>C, NM_016581.4:c.1033G>A, NM_001142464.3:c.884G>C, NM_001142464.3:c.884G>A, NM_001142464.2:c.884G>C, NM_001142464.2:c.884G>A, NM_001142465.3:c.391G>C, NM_001142465.3:c.391G>A, NM_001142465.2:c.391G>C, NM_001142465.2:c.391G>A, NM_001243204.2:c.*21G>C, NM_001243204.2:c.*21G>A, NM_001243204.1:c.*21G>C, NM_001243204.1:c.*21G>A, NR_024551.1:n.1056G>C, NR_024551.1:n.1056G>A, NP_057665.2:p.Glu345Gln, NP_057665.2:p.Glu345Lys, NP_001135936.1:p.Arg295Pro, NP_001135936.1:p.Arg295Gln, NP_001135937.1:p.Glu131Gln, NP_001135937.1:p.Glu131Lys

Select item 145775989912.

rs1457759899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:11519131 (GRCh38)
19:11629946 (GRCh37)
Canonical SPDI:: NC_000019.10:11519130:A:C
Gene:: ECSIT (Varview)
Functional Consequence:: 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_000019.10:g.11519131A>C, NC_000019.9:g.11629946A>C, NM_016581.5:c.40T>G, NM_016581.4:c.40T>G, NM_001142464.3:c.40T>G, NM_001142464.2:c.40T>G, NM_001142465.3:c.40T>G, NM_001142465.2:c.40T>G, NM_001243204.2:c.40T>G, NM_001243204.1:c.40T>G, NR_024551.1:n.184T>G, NP_057665.2:p.Cys14Gly, NP_001135936.1:p.Cys14Gly, NP_001135937.1:p.Cys14Gly, NP_001230133.1:p.Cys14Gly

Select item 144405704713.

rs1444057047 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:11513956 (GRCh38)
19:11624771 (GRCh37)
Canonical SPDI:: NC_000019.10:11513955:CC:C
Gene:: ECSIT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11513957del, NC_000019.9:g.11624772del, NM_016581.5:c.362del, NM_016581.4:c.362del, NM_001142464.3:c.362del, NM_001142464.2:c.362del, NM_001243204.2:c.362del, NM_001243204.1:c.362del, NR_024551.1:n.506del, NP_057665.2:p.Gly121fs, NP_001135936.1:p.Gly121fs, NP_001230133.1:p.Gly121fs

Select item 144371417714.

rs1443714177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:11513238 (GRCh38)
19:11624053 (GRCh37)
Canonical SPDI:: NC_000019.10:11513237:T:G
Gene:: ECSIT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11513238T>G, NC_000019.9:g.11624053T>G, NM_016581.5:c.556A>C, NM_016581.4:c.556A>C, NM_001142464.3:c.556A>C, NM_001142464.2:c.556A>C, NM_001243204.2:c.556A>C, NM_001243204.1:c.556A>C, NR_024551.1:n.700A>C, NP_057665.2:p.Ile186Leu, NP_001135936.1:p.Ile186Leu, NP_001230133.1:p.Ile186Leu

Select item 144229439415.

rs1442294394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11514154 (GRCh38)
19:11624969 (GRCh37)
Canonical SPDI:: NC_000019.10:11514153:A:G
Gene:: ECSIT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11514154A>G, NC_000019.9:g.11624969A>G, NM_016581.5:c.164T>C, NM_016581.4:c.164T>C, NM_001142464.3:c.164T>C, NM_001142464.2:c.164T>C, NM_001243204.2:c.164T>C, NM_001243204.1:c.164T>C, NR_024551.1:n.308T>C, NP_057665.2:p.Val55Ala, NP_001135936.1:p.Val55Ala, NP_001230133.1:p.Val55Ala

Select item 143649917116.

rs1436499171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11507540 (GRCh38)
19:11618355 (GRCh37)
Canonical SPDI:: NC_000019.10:11507539:T:C
Gene:: ECSIT (Varview), ZNF653 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11507540T>C, NC_000019.9:g.11618355T>C, NM_016581.5:c.968A>G, NM_016581.4:c.968A>G, NM_001142464.3:c.819A>G, NM_001142464.2:c.819A>G, NM_001142465.3:c.326A>G, NM_001142465.2:c.326A>G, NM_001243204.2:c.847A>G, NM_001243204.1:c.847A>G, NR_024551.1:n.991A>G, NP_057665.2:p.Glu323Gly, NP_001135937.1:p.Glu109Gly, NP_001230133.1:p.Ser283Gly

Select item 142607628917.

rs1426076289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:11519145 (GRCh38)
19:11629960 (GRCh37)
Canonical SPDI:: NC_000019.10:11519144:A:C
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11519145A>C, NC_000019.9:g.11629960A>C, NM_016581.5:c.26T>G, NM_016581.4:c.26T>G, NM_001142464.3:c.26T>G, NM_001142464.2:c.26T>G, NM_001142465.3:c.26T>G, NM_001142465.2:c.26T>G, NM_001243204.2:c.26T>G, NM_001243204.1:c.26T>G, NR_024551.1:n.170T>G, NP_057665.2:p.Leu9Arg, NP_001135936.1:p.Leu9Arg, NP_001135937.1:p.Leu9Arg, NP_001230133.1:p.Leu9Arg

Select item 142485687318.

rs1424856873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11508008 (GRCh38)
19:11618823 (GRCh37)
Canonical SPDI:: NC_000019.10:11508007:G:A
Gene:: ECSIT (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.11508008G>A, NC_000019.9:g.11618823G>A, NM_016581.5:c.779C>T, NM_016581.4:c.779C>T, NM_001142464.3:c.779C>T, NM_001142464.2:c.779C>T, NM_001142465.3:c.137C>T, NM_001142465.2:c.137C>T, NM_001243204.2:c.779C>T, NM_001243204.1:c.779C>T, NR_024551.1:n.923C>T, NP_057665.2:p.Pro260Leu, NP_001135936.1:p.Pro260Leu, NP_001135937.1:p.Pro46Leu, NP_001230133.1:p.Pro260Leu

Select item 142330721719.

rs1423307217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:11513118 (GRCh38)
19:11623933 (GRCh37)
Canonical SPDI:: NC_000019.10:11513117:G:A,NC_000019.10:11513117:G:C
Gene:: ECSIT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11513118G>A, NC_000019.10:g.11513118G>C, NC_000019.9:g.11623933G>A, NC_000019.9:g.11623933G>C, NM_016581.5:c.676C>T, NM_016581.5:c.676C>G, NM_016581.4:c.676C>T, NM_016581.4:c.676C>G, NM_001142464.3:c.676C>T, NM_001142464.3:c.676C>G, NM_001142464.2:c.676C>T, NM_001142464.2:c.676C>G, NM_001243204.2:c.676C>T, NM_001243204.2:c.676C>G, NM_001243204.1:c.676C>T, NM_001243204.1:c.676C>G, NR_024551.1:n.820C>T, NR_024551.1:n.820C>G, NP_057665.2:p.Leu226Val, NP_001135936.1:p.Leu226Val, NP_001230133.1:p.Leu226Val

Select item 141963915820.

rs1419639158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:11513936 (GRCh38)
19:11624751 (GRCh37)
Canonical SPDI:: NC_000019.10:11513935:C:A,NC_000019.10:11513935:C:T
Gene:: ECSIT (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.11513936C>A, NC_000019.10:g.11513936C>T, NC_000019.9:g.11624751C>A, NC_000019.9:g.11624751C>T, NM_016581.5:c.382G>T, NM_016581.5:c.382G>A, NM_016581.4:c.382G>T, NM_016581.4:c.382G>A, NM_001142464.3:c.382G>T, NM_001142464.3:c.382G>A, NM_001142464.2:c.382G>T, NM_001142464.2:c.382G>A, NM_001243204.2:c.382G>T, NM_001243204.2:c.382G>A, NM_001243204.1:c.382G>T, NM_001243204.1:c.382G>A, NR_024551.1:n.526G>T, NR_024551.1:n.526G>A, NP_057665.2:p.Val128Leu, NP_057665.2:p.Val128Met, NP_001135936.1:p.Val128Leu, NP_001135936.1:p.Val128Met, NP_001230133.1:p.Val128Leu, NP_001230133.1:p.Val128Met

<< First< Prev

Page of 16

Next >Last >>

dbSNP

Result Filters

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 313

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity