SNP Links for Protein (Select 17981704) - SNP

Links from Protein

Items: 1 to 20 of 188

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Select item 14753458131.

rs1475345813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54399904 (GRCh38)
14:54866622 (GRCh37)
Canonical SPDI:: NC_000014.9:54399903:T:C
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_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)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54399904T>C, NC_000014.8:g.54866622T>C, NG_023235.1:g.7950T>C, NM_005192.4:c.20T>C, NM_005192.3:c.20T>C, NM_001330173.2:c.20T>C, NM_001330173.1:c.20T>C, NM_001130851.2:c.20T>C, NM_001130851.1:c.20T>C, NP_005183.2:p.Ile7Thr, NP_001317102.1:p.Ile7Thr, NP_001124323.1:p.Ile7Thr

Select item 14727154132.

rs1472715413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:54415918 (GRCh38)
14:54882636 (GRCh37)
Canonical SPDI:: NC_000014.9:54415917:A:C
Gene:: CDKN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.54415918A>C, NC_000014.8:g.54882636A>C, NG_023235.1:g.23964A>C, NM_005192.4:c.436A>C, NM_005192.3:c.436A>C, NM_001330173.2:c.436A>C, NM_001330173.1:c.436A>C, NM_001130851.2:c.316A>C, NM_001130851.1:c.316A>C

Select item 14633616073.

rs1463361607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54399903 (GRCh38)
14:54866621 (GRCh37)
Canonical SPDI:: NC_000014.9:54399902:A:G
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54399903A>G, NC_000014.8:g.54866621A>G, NG_023235.1:g.7949A>G, NM_005192.4:c.19A>G, NM_005192.3:c.19A>G, NM_001330173.2:c.19A>G, NM_001330173.1:c.19A>G, NM_001130851.2:c.19A>G, NM_001130851.1:c.19A>G, NP_005183.2:p.Ile7Val, NP_001317102.1:p.Ile7Val, NP_001124323.1:p.Ile7Val

Select item 14626291514.

rs1462629151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:54420029 (GRCh38)
14:54886747 (GRCh37)
Canonical SPDI:: NC_000014.9:54420028:C:A
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.54420029C>A, NC_000014.8:g.54886747C>A, NG_023235.1:g.28075C>A, NM_005192.4:c.590C>A, NM_005192.3:c.590C>A, NM_001330173.2:c.*71C>A, NM_001330173.1:c.*71C>A, NM_001130851.2:c.470C>A, NM_001130851.1:c.470C>A, NP_005183.2:p.Ala197Asp, NP_001124323.1:p.Ala157Asp

Select item 14572139425.

rs1457213942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54415903 (GRCh38)
14:54882621 (GRCh37)
Canonical SPDI:: NC_000014.9:54415902:T:C
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54415903T>C, NC_000014.8:g.54882621T>C, NG_023235.1:g.23949T>C, NM_005192.4:c.421T>C, NM_005192.3:c.421T>C, NM_001330173.2:c.421T>C, NM_001330173.1:c.421T>C, NM_001130851.2:c.301T>C, NM_001130851.1:c.301T>C, NP_005183.2:p.Tyr141His, NP_001317102.1:p.Tyr141His, NP_001124323.1:p.Tyr101His

Select item 14421194766.

rs1442119476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54411585 (GRCh38)
14:54878303 (GRCh37)
Canonical SPDI:: NC_000014.9:54411584:T:C
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54411585T>C, NC_000014.8:g.54878303T>C, NG_023235.1:g.19631T>C, NM_005192.4:c.295T>C, NM_005192.3:c.295T>C, NM_001330173.2:c.295T>C, NM_001330173.1:c.295T>C, NM_001130851.2:c.175T>C, NM_001130851.1:c.175T>C, NP_005183.2:p.Cys99Arg, NP_001317102.1:p.Cys99Arg, NP_001124323.1:p.Cys59Arg

Select item 14416516887.

rs1441651688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54420034 (GRCh38)
14:54886752 (GRCh37)
Canonical SPDI:: NC_000014.9:54420033:C:T
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54420034C>T, NC_000014.8:g.54886752C>T, NG_023235.1:g.28080C>T, NM_005192.4:c.595C>T, NM_005192.3:c.595C>T, NM_001330173.2:c.*76C>T, NM_001330173.1:c.*76C>T, NM_001130851.2:c.475C>T, NM_001130851.1:c.475C>T, NP_005183.2:p.His199Tyr, NP_001124323.1:p.His159Tyr

Select item 14415377378.

rs1441537737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:54401566 (GRCh38)
14:54868284 (GRCh37)
Canonical SPDI:: NC_000014.9:54401565:A:T
Gene:: CDKN3 (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.54401566A>T, NC_000014.8:g.54868284A>T, NG_023235.1:g.9612A>T, NM_005192.4:c.135A>T, NM_005192.3:c.135A>T, NM_001330173.2:c.135A>T, NM_001330173.1:c.135A>T, NP_005183.2:p.Leu45Phe, NP_001317102.1:p.Leu45Phe

Select item 14398060219.

rs1439806021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54420040 (GRCh38)
14:54886758 (GRCh37)
Canonical SPDI:: NC_000014.9:54420039:T:C
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54420040T>C, NC_000014.8:g.54886758T>C, NG_023235.1:g.28086T>C, NM_005192.4:c.601T>C, NM_005192.3:c.601T>C, NM_001330173.2:c.*82T>C, NM_001330173.1:c.*82T>C, NM_001130851.2:c.481T>C, NM_001130851.1:c.481T>C, NP_005183.2:p.Ser201Pro, NP_001124323.1:p.Ser161Pro

Select item 143903758110.

rs1439037581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54411542 (GRCh38)
14:54878260 (GRCh37)
Canonical SPDI:: NC_000014.9:54411541:G:A
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.54411542G>A, NC_000014.8:g.54878260G>A, NG_023235.1:g.19588G>A, NM_005192.4:c.252G>A, NM_005192.3:c.252G>A, NM_001330173.2:c.252G>A, NM_001330173.1:c.252G>A, NM_001130851.2:c.132G>A, NM_001130851.1:c.132G>A

Select item 142986438011.

rs1429864380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54397076 (GRCh38)
14:54863794 (GRCh37)
Canonical SPDI:: NC_000014.9:54397075:C:T
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54397076C>T, NC_000014.8:g.54863794C>T, NG_023235.1:g.5122C>T, NM_005192.4:c.8C>T, NM_005192.3:c.8C>T, NM_001330173.2:c.8C>T, NM_001330173.1:c.8C>T, NM_001130851.2:c.8C>T, NM_001130851.1:c.8C>T, NP_005183.2:p.Pro3Leu, NP_001317102.1:p.Pro3Leu, NP_001124323.1:p.Pro3Leu

Select item 142394458012.

rs1423944580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:54411562 (GRCh38)
14:54878280 (GRCh37)
Canonical SPDI:: NC_000014.9:54411561:A:T
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54411562A>T, NC_000014.8:g.54878280A>T, NG_023235.1:g.19608A>T, NM_005192.4:c.272A>T, NM_005192.3:c.272A>T, NM_001330173.2:c.272A>T, NM_001330173.1:c.272A>T, NM_001130851.2:c.152A>T, NM_001130851.1:c.152A>T, NP_005183.2:p.Asn91Ile, NP_001317102.1:p.Asn91Ile, NP_001124323.1:p.Asn51Ile

Select item 142243872013.

rs1422438720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54399898 (GRCh38)
14:54866616 (GRCh37)
Canonical SPDI:: NC_000014.9:54399897:G:A
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.54399898G>A, NC_000014.8:g.54866616G>A, NG_023235.1:g.7944G>A, NM_005192.4:c.14G>A, NM_005192.3:c.14G>A, NM_001330173.2:c.14G>A, NM_001330173.1:c.14G>A, NM_001130851.2:c.14G>A, NM_001130851.1:c.14G>A, NP_005183.2:p.Ser5Asn, NP_001317102.1:p.Ser5Asn, NP_001124323.1:p.Ser5Asn

Select item 142230249414.

rs1422302494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54411628 (GRCh38)
14:54878346 (GRCh37)
Canonical SPDI:: NC_000014.9:54411627:C:T
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54411628C>T, NC_000014.8:g.54878346C>T, NG_023235.1:g.19674C>T, NM_005192.4:c.338C>T, NM_005192.3:c.338C>T, NM_001330173.2:c.338C>T, NM_001330173.1:c.338C>T, NM_001130851.2:c.218C>T, NM_001130851.1:c.218C>T, NP_005183.2:p.Thr113Ile, NP_001317102.1:p.Thr113Ile, NP_001124323.1:p.Thr73Ile

Select item 141893407115.

rs1418934071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:54420067 (GRCh38)
14:54886785 (GRCh37)
Canonical SPDI:: NC_000014.9:54420066:G:C
Gene:: CDKN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54420067G>C, NC_000014.8:g.54886785G>C, NG_023235.1:g.28113G>C, NM_005192.4:c.628G>C, NM_005192.3:c.628G>C, NM_001330173.2:c.*109G>C, NM_001330173.1:c.*109G>C, NM_001130851.2:c.508G>C, NM_001130851.1:c.508G>C, NP_005183.2:p.Val210Leu, NP_001124323.1:p.Val170Leu

Select item 141139926316.

rs1411399263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:54401569 (GRCh38)
14:54868287 (GRCh37)
Canonical SPDI:: NC_000014.9:54401568:T:G
Gene:: CDKN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.54401569T>G, NC_000014.8:g.54868287T>G, NG_023235.1:g.9615T>G, NM_005192.4:c.138T>G, NM_005192.3:c.138T>G, NM_001330173.2:c.138T>G, NM_001330173.1:c.138T>G, NP_005183.2:p.Cys46Trp, NP_001317102.1:p.Cys46Trp

Select item 140550108617.

rs1405501086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54411639 (GRCh38)
14:54878357 (GRCh37)
Canonical SPDI:: NC_000014.9:54411638:G:A
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54411639G>A, NC_000014.8:g.54878357G>A, NG_023235.1:g.19685G>A, NM_005192.4:c.349G>A, NM_005192.3:c.349G>A, NM_001330173.2:c.349G>A, NM_001330173.1:c.349G>A, NM_001130851.2:c.229G>A, NM_001130851.1:c.229G>A, NP_005183.2:p.Ala117Thr, NP_001317102.1:p.Ala117Thr, NP_001124323.1:p.Ala77Thr

Select item 140165573618.

rs1401655736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:54411509 (GRCh38)
14:54878227 (GRCh37)
Canonical SPDI:: NC_000014.9:54411508:A:C
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.54411509A>C, NC_000014.8:g.54878227A>C, NG_023235.1:g.19555A>C, NM_005192.4:c.219A>C, NM_005192.3:c.219A>C, NM_001330173.2:c.219A>C, NM_001330173.1:c.219A>C, NM_001130851.2:c.99A>C, NM_001130851.1:c.99A>C, NP_005183.2:p.Gln73His, NP_001317102.1:p.Gln73His, NP_001124323.1:p.Gln33His

Select item 139906962519.

rs1399069625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:54417867 (GRCh38)
14:54884585 (GRCh37)
Canonical SPDI:: NC_000014.9:54417866:A:C,NC_000014.9:54417866:A:G
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.54417867A>C, NC_000014.9:g.54417867A>G, NC_000014.8:g.54884585A>C, NC_000014.8:g.54884585A>G, NG_023235.1:g.25913A>C, NG_023235.1:g.25913A>G, NM_005192.4:c.468A>C, NM_005192.4:c.468A>G, NM_005192.3:c.468A>C, NM_005192.3:c.468A>G, NM_001330173.2:c.468A>C, NM_001330173.2:c.468A>G, NM_001330173.1:c.468A>C, NM_001330173.1:c.468A>G, NM_001130851.2:c.348A>C, NM_001130851.2:c.348A>G, NM_001130851.1:c.348A>C, NM_001130851.1:c.348A>G

Select item 139868668620.

rs1398686686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:54411580 (GRCh38)
14:54878298 (GRCh37)
Canonical SPDI:: NC_000014.9:54411579:A:T
Gene:: CDKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54411580A>T, NC_000014.8:g.54878298A>T, NG_023235.1:g.19626A>T, NM_005192.4:c.290A>T, NM_005192.3:c.290A>T, NM_001330173.2:c.290A>T, NM_001330173.1:c.290A>T, NM_001130851.2:c.170A>T, NM_001130851.1:c.170A>T, NP_005183.2:p.Gln97Leu, NP_001317102.1:p.Gln97Leu, NP_001124323.1:p.Gln57Leu

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