SNP Links for Protein (Select 6912366) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152982883 (GRCh38)
6:153304018 (GRCh37)
Canonical SPDI:: NC_000006.12:152982882:G:C
Gene:: FBXO5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152982883G>C, NC_000006.11:g.153304018G>C, NM_012177.5:c.77C>G, NM_012177.4:c.77C>G, NM_012177.3:c.77C>G, NP_036309.1:p.Ala26Gly

Select item 146440184111.

rs1464401841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152972444 (GRCh38)
6:153293579 (GRCh37)
Canonical SPDI:: NC_000006.12:152972443:T:C
Gene:: FBXO5 (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=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152972444T>C, NC_000006.11:g.153293579T>C, NM_012177.5:c.920A>G, NM_012177.4:c.920A>G, NM_012177.3:c.920A>G, NM_001142522.3:c.782A>G, NM_001142522.2:c.782A>G, NM_001142522.1:c.782A>G, NP_036309.1:p.Asn307Ser, NP_001135994.1:p.Asn261Ser

Select item 146217540912.

rs1462175409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:152971330 (GRCh38)
6:153292465 (GRCh37)
Canonical SPDI:: NC_000006.12:152971329:G:A
Gene:: FBXO5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152971330G>A, NC_000006.11:g.153292465G>A, NM_012177.5:c.1177C>T, NM_012177.4:c.1177C>T, NM_012177.3:c.1177C>T, NM_001142522.3:c.1039C>T, NM_001142522.2:c.1039C>T, NM_001142522.1:c.1039C>T, NP_036309.1:p.Arg393Trp, NP_001135994.1:p.Arg347Trp

Select item 145806981013.

rs1458069810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:152974911 (GRCh38)
6:153296046 (GRCh37)
Canonical SPDI:: NC_000006.12:152974910:T:A
Gene:: FBXO5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.152974911T>A, NC_000006.11:g.153296046T>A, NM_012177.5:c.814A>T, NM_012177.4:c.814A>T, NM_012177.3:c.814A>T, NM_001142522.3:c.676A>T, NM_001142522.2:c.676A>T, NM_001142522.1:c.676A>T, NP_036309.1:p.Ile272Phe, NP_001135994.1:p.Ile226Phe

Select item 145718658514.

rs1457186585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:152974972 (GRCh38)
6:153296107 (GRCh37)
Canonical SPDI:: NC_000006.12:152974971:A:G
Gene:: FBXO5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152974972A>G, NC_000006.11:g.153296107A>G, NM_012177.5:c.753T>C, NM_012177.4:c.753T>C, NM_012177.3:c.753T>C, NM_001142522.3:c.615T>C, NM_001142522.2:c.615T>C, NM_001142522.1:c.615T>C

Select item 145707743915.

rs1457077439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:152971234 (GRCh38)
6:153292369 (GRCh37)
Canonical SPDI:: NC_000006.12:152971233:G:A,NC_000006.12:152971233:G:T
Gene:: FBXO5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.152971234G>A, NC_000006.12:g.152971234G>T, NC_000006.11:g.153292369G>A, NC_000006.11:g.153292369G>T, NM_012177.5:c.1273C>T, NM_012177.5:c.1273C>A, NM_012177.4:c.1273C>T, NM_012177.4:c.1273C>A, NM_012177.3:c.1273C>T, NM_012177.3:c.1273C>A, NM_001142522.3:c.1135C>T, NM_001142522.3:c.1135C>A, NM_001142522.2:c.1135C>T, NM_001142522.2:c.1135C>A, NM_001142522.1:c.1135C>T, NM_001142522.1:c.1135C>A, NP_036309.1:p.Leu425Phe, NP_036309.1:p.Leu425Ile, NP_001135994.1:p.Leu379Phe, NP_001135994.1:p.Leu379Ile

Select item 145583155116.

rs1455831551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:152975067 (GRCh38)
6:153296202 (GRCh37)
Canonical SPDI:: NC_000006.12:152975066:G:T
Gene:: FBXO5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.152975067G>T, NC_000006.11:g.153296202G>T, NM_012177.5:c.658C>A, NM_012177.4:c.658C>A, NM_012177.3:c.658C>A, NM_001142522.3:c.520C>A, NM_001142522.2:c.520C>A, NM_001142522.1:c.520C>A, NP_036309.1:p.Leu220Met, NP_001135994.1:p.Leu174Met

Select item 145116298417.

rs1451162984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152975582 (GRCh38)
6:153296717 (GRCh37)
Canonical SPDI:: NC_000006.12:152975581:T:C
Gene:: FBXO5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.152975582T>C, NC_000006.11:g.153296717T>C, NM_012177.5:c.143A>G, NM_012177.4:c.143A>G, NM_012177.3:c.143A>G, NM_001142522.3:c.5A>G, NM_001142522.2:c.5A>G, NM_001142522.1:c.5A>G, NP_036309.1:p.Lys48Arg, NP_001135994.1:p.Lys2Arg

Select item 144474584118.

rs1444745841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152982921 (GRCh38)
6:153304056 (GRCh37)
Canonical SPDI:: NC_000006.12:152982920:G:C
Gene:: FBXO5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152982921G>C, NC_000006.11:g.153304056G>C, NM_012177.5:c.39C>G, NM_012177.4:c.39C>G, NM_012177.3:c.39C>G

Select item 144464555019.

rs1444645550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152971219 (GRCh38)
6:153292354 (GRCh37)
Canonical SPDI:: NC_000006.12:152971218:T:C
Gene:: FBXO5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.152971219T>C, NC_000006.11:g.153292354T>C, NM_012177.5:c.1288A>G, NM_012177.4:c.1288A>G, NM_012177.3:c.1288A>G, NM_001142522.3:c.1150A>G, NM_001142522.2:c.1150A>G, NM_001142522.1:c.1150A>G, NP_036309.1:p.Lys430Glu, NP_001135994.1:p.Lys384Glu

Select item 144453589720.

rs1444535897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152975030 (GRCh38)
6:153296165 (GRCh37)
Canonical SPDI:: NC_000006.12:152975029:T:C
Gene:: FBXO5 (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)
HGVS:: NC_000006.12:g.152975030T>C, NC_000006.11:g.153296165T>C, NM_012177.5:c.695A>G, NM_012177.4:c.695A>G, NM_012177.3:c.695A>G, NM_001142522.3:c.557A>G, NM_001142522.2:c.557A>G, NM_001142522.1:c.557A>G, NP_036309.1:p.Gln232Arg, NP_001135994.1:p.Gln186Arg

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