Links from Protein
Items: 1 to 20 of 319
1.
rs1490298498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67935641
(GRCh38)
16:67969544
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67935640:G:A
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1482775283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:67936029
(GRCh38)
16:67969932
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936028:G:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1480996816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:67934940
(GRCh38)
16:67968843
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934939:A:G
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1479417403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:67935972
(GRCh38)
16:67969875
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67935971:G:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1475697041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:67936039
(GRCh38)
16:67969942
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936038:C:G
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/2
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1475487738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67934915
(GRCh38)
16:67968818
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934914:C:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
7.
rs1475129957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67936431
(GRCh38)
16:67970334
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936430:C:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1466220286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:67935990
(GRCh38)
16:67969893
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67935989:G:A,NC_000016.10:67935989:G:C
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.67935990G>A, NC_000016.10:g.67935990G>C, NC_000016.9:g.67969893G>A, NC_000016.9:g.67969893G>C, NG_051639.1:g.886C>T, NG_051639.1:g.886C>G, NM_002801.4:c.356C>T, NM_002801.4:c.356C>G, NM_002801.3:c.356C>T, NM_002801.3:c.356C>G, NP_002792.1:p.Thr119Ile, NP_002792.1:p.Thr119Ser
10.
rs1465719291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGCCCCTGAGCAGCCTCCAGC
[Show Flanks]
- Chromosome:
- 16:67934923
(GRCh38)
16:67968827
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934923:CCAGCAGCCCCTGAGCAGCCTCCAGC:CCAGCAGCCCCTGAGCAGCCTCCAGCAGCCCCTGAGCAGCCTCCAGC
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- splice_acceptor_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
CCAGCAGCCCCTGAGCAGCCTCCAGCAGCCCCTGAGCAGCCTCCAGC=0./0
(
ALFA)
CCAGCAGCCCCTGAGCAGCCT=0.000011/3
(TOPMED)
- HGVS:
11.
rs1465011818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:67935591
(GRCh38)
16:67969494
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67935590:T:C
- Gene:
- PSMB10 (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:
14.
rs1461521363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:67936436
(GRCh38)
16:67970339
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936435:G:A,NC_000016.10:67936435:G:C
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- missense_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)
- HGVS:
NC_000016.10:g.67936436G>A, NC_000016.10:g.67936436G>C, NC_000016.9:g.67970339G>A, NC_000016.9:g.67970339G>C, NG_051639.1:g.440C>T, NG_051639.1:g.440C>G, NM_002801.4:c.106C>T, NM_002801.4:c.106C>G, NM_002801.3:c.106C>T, NM_002801.3:c.106C>G, NP_002792.1:p.Arg36Cys, NP_002792.1:p.Arg36Gly
15.
rs1457989722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67934652
(GRCh38)
16:67968555
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934651:C:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1456672558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67934602
(GRCh38)
16:67968505
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934601:C:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1454613308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:67936463
(GRCh38)
16:67970366
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936462:G:A,NC_000016.10:67936462:G:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000023/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000016.10:g.67936463G>A, NC_000016.10:g.67936463G>T, NC_000016.9:g.67970366G>A, NC_000016.9:g.67970366G>T, NG_051639.1:g.413C>T, NG_051639.1:g.413C>A, NM_002801.4:c.79C>T, NM_002801.4:c.79C>A, NM_002801.3:c.79C>T, NM_002801.3:c.79C>A, NP_002792.1:p.Leu27Phe, NP_002792.1:p.Leu27Ile
18.
rs1449777589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:67936236
(GRCh38)
16:67970139
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936235:T:C,NC_000016.10:67936235:T:G
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
G=0.000546/1
(Korea1K)
- HGVS:
NC_000016.10:g.67936236T>C, NC_000016.10:g.67936236T>G, NC_000016.9:g.67970139T>C, NC_000016.9:g.67970139T>G, NG_051639.1:g.640A>G, NG_051639.1:g.640A>C, NM_002801.4:c.221A>G, NM_002801.4:c.221A>C, NM_002801.3:c.221A>G, NM_002801.3:c.221A>C, NP_002792.1:p.His74Arg, NP_002792.1:p.His74Pro
19.
rs1445599183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:67934662
(GRCh38)
16:67968565
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67934661:G:T
- Gene:
- PSMB10 (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)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1444103061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:67936438
(GRCh38)
16:67970341
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67936437:G:T
- Gene:
- PSMB10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: