SNP Links for Protein (Select 4506193) - SNP

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Links from Protein

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Select item 14904830251.

rs1490483025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:170543647 (GRCh38)
6:170852735 (GRCh37)
Canonical SPDI:: NC_000006.12:170543646:G:C,NC_000006.12:170543646:G:T
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000006.12:g.170543647G>C, NC_000006.12:g.170543647G>T, NC_000006.11:g.170852735G>C, NC_000006.11:g.170852735G>T, NM_002793.4:c.387C>G, NM_002793.4:c.387C>A, NM_002793.3:c.387C>G, NM_002793.3:c.387C>A, NP_002784.1:p.Phe129Leu, NP_002784.1:p.Phe129Leu

Select item 14901149672.

rs1490114967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170535310 (GRCh38)
6:170844398 (GRCh37)
Canonical SPDI:: NC_000006.12:170535309:C:T
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170535310C>T, NC_000006.11:g.170844398C>T, NM_002793.4:c.636G>A, NM_002793.3:c.636G>A

Select item 14887250163.

rs1488725016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTTTCCTC [Show Flanks]
Chromosome:: 6:170535239 (GRCh38)
6:170844328 (GRCh37)
Canonical SPDI:: NC_000006.12:170535239:CAGTTTCCTC:CAGTTTCCTCAGTTTCCTC
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: CAGTTTCCTCAGTTTCCTC=0.000111/1 (ALFA)
CAGTTTCCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170535241_170535249dup, NC_000006.11:g.170844329_170844337dup, NM_002793.4:c.698_706dup, NM_002793.3:c.698_706dup, NP_002784.1:p.Glu233_Thr235dup

Select item 14846929324.

rs1484692932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170553195 (GRCh38)
6:170862283 (GRCh37)
Canonical SPDI:: NC_000006.12:170553194:C:T
Gene:: PSMB1 (Varview), TBP (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.170553195C>T, NC_000006.11:g.170862283C>T, NG_008165.1:g.3813C>T, NM_002793.4:c.48G>A, NM_002793.3:c.48G>A

Select item 14844859325.

rs1484485932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170537238 (GRCh38)
6:170846326 (GRCh37)
Canonical SPDI:: NC_000006.12:170537237:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170537238T>C, NC_000006.11:g.170846326T>C, NM_002793.4:c.536A>G, NM_002793.3:c.536A>G, NP_002784.1:p.Asn179Ser

Select item 14807396646.

rs1480739664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170543715 (GRCh38)
6:170852803 (GRCh37)
Canonical SPDI:: NC_000006.12:170543714:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170543715T>C, NC_000006.11:g.170852803T>C, NM_002793.4:c.319A>G, NM_002793.3:c.319A>G, NP_002784.1:p.Asn107Asp

Select item 14764751157.

rs1476475115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170546148 (GRCh38)
6:170855236 (GRCh37)
Canonical SPDI:: NC_000006.12:170546147:A:G
Gene:: PSMB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.170546148A>G, NC_000006.11:g.170855236A>G, NM_002793.4:c.258T>C, NM_002793.3:c.258T>C

Select item 14730454678.

rs1473045467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:170537327 (GRCh38)
6:170846415 (GRCh37)
Canonical SPDI:: NC_000006.12:170537326:T:A,NC_000006.12:170537326:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: synonymous_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.170537327T>A, NC_000006.12:g.170537327T>C, NC_000006.11:g.170846415T>A, NC_000006.11:g.170846415T>C, NM_002793.4:c.447A>T, NM_002793.4:c.447A>G, NM_002793.3:c.447A>T, NM_002793.3:c.447A>G

Select item 14697469419.

rs1469746941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:170543730 (GRCh38)
6:170852818 (GRCh37)
Canonical SPDI:: NC_000006.12:170543729:T:A,NC_000006.12:170543729:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000006.12:g.170543730T>A, NC_000006.12:g.170543730T>C, NC_000006.11:g.170852818T>A, NC_000006.11:g.170852818T>C, NM_002793.4:c.304A>T, NM_002793.4:c.304A>G, NM_002793.3:c.304A>T, NM_002793.3:c.304A>G, NP_002784.1:p.Met102Leu, NP_002784.1:p.Met102Val

Select item 146270805210.

rs1462708052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170535265 (GRCh38)
6:170844353 (GRCh37)
Canonical SPDI:: NC_000006.12:170535264:G:A
Gene:: PSMB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.170535265G>A, NC_000006.11:g.170844353G>A, NM_002793.4:c.681C>T, NM_002793.3:c.681C>T

Select item 146225049611.

rs1462250496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:170549089 (GRCh38)
6:170858177 (GRCh37)
Canonical SPDI:: NC_000006.12:170549088:T:G
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.170549089T>G, NC_000006.11:g.170858177T>G, NM_002793.4:c.138A>C, NM_002793.3:c.138A>C, NP_002784.1:p.Glu46Asp

Select item 146066548812.

rs1460665488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170535376 (GRCh38)
6:170844464 (GRCh37)
Canonical SPDI:: NC_000006.12:170535375:C:T
Gene:: PSMB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170535376C>T, NC_000006.11:g.170844464C>T, NM_002793.4:c.570G>A, NM_002793.3:c.570G>A

Select item 145967508513.

rs1459675085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:170535342 (GRCh38)
6:170844430 (GRCh37)
Canonical SPDI:: NC_000006.12:170535341:G:C
Gene:: PSMB1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.170535342G>C, NC_000006.11:g.170844430G>C, NM_002793.4:c.604C>G, NM_002793.3:c.604C>G, NP_002784.1:p.Leu202Val

Select item 145869725814.

rs1458697258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170553236 (GRCh38)
6:170862324 (GRCh37)
Canonical SPDI:: NC_000006.12:170553235:A:G
Gene:: PSMB1 (Varview), TBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170553236A>G, NC_000006.11:g.170862324A>G, NG_008165.1:g.3854A>G, NM_002793.4:c.7T>C, NM_002793.3:c.7T>C, NP_002784.1:p.Ser3Pro

Select item 145637061515.

rs1456370615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170553200 (GRCh38)
6:170862288 (GRCh37)
Canonical SPDI:: NC_000006.12:170553199:A:G
Gene:: PSMB1 (Varview), TBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170553200A>G, NC_000006.11:g.170862288A>G, NG_008165.1:g.3818A>G, NM_002793.4:c.43T>C, NM_002793.3:c.43T>C

Select item 144522162216.

rs1445221622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170535372 (GRCh38)
6:170844460 (GRCh37)
Canonical SPDI:: NC_000006.12:170535371:C:T
Gene:: PSMB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170535372C>T, NC_000006.11:g.170844460C>T, NM_002793.4:c.574G>A, NM_002793.3:c.574G>A, NP_002784.1:p.Val192Ile

Select item 143960182817.

rs1439601828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170535228 (GRCh38)
6:170844316 (GRCh37)
Canonical SPDI:: NC_000006.12:170535227:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170535228T>C, NC_000006.11:g.170844316T>C, NM_002793.4:c.718A>G, NM_002793.3:c.718A>G, NP_002784.1:p.Lys240Glu

Select item 143354453118.

rs1433544531 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:170546166 (GRCh38)
6:170855255 (GRCh37)
Canonical SPDI:: NC_000006.12:170546166::C
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.170546166_170546167insC, NC_000006.11:g.170855254_170855255insC, NM_002793.4:c.239_240insG, NM_002793.3:c.239_240insG, NP_002784.1:p.Ile80fs

Select item 143082582319.

rs1430825823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170553156 (GRCh38)
6:170862244 (GRCh37)
Canonical SPDI:: NC_000006.12:170553155:T:C
Gene:: PSMB1 (Varview), TBP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.170553156T>C, NC_000006.11:g.170862244T>C, NG_008165.1:g.3774T>C, NM_002793.4:c.87A>G, NM_002793.3:c.87A>G

Select item 142687722820.

rs1426877228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170535243 (GRCh38)
6:170844331 (GRCh37)
Canonical SPDI:: NC_000006.12:170535242:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.170535243T>C, NC_000006.11:g.170844331T>C, NM_002793.4:c.703A>G, NM_002793.3:c.703A>G, NP_002784.1:p.Thr235Ala

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