Links from Protein
Items: 1 to 20 of 86
1.
rs1488718002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22975069
(GRCh38)
14:23444278
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22975068:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1477593047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22973517
(GRCh38)
14:23442726
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973516:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1438821560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:22973453
(GRCh38)
14:23442662
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973452:T:C
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1430261150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22974079
(GRCh38)
14:23443288
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22974078:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1427708548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:22973498
(GRCh38)
14:23442707
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973497:T:C
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1422828825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:22975064
(GRCh38)
14:23444273
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22975063:AAA:AA
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1398824844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22973542
(GRCh38)
14:23442751
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973541:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1387232699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:22975058
(GRCh38)
14:23444267
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22975057:C:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1387088984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22974979
(GRCh38)
14:23444188
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22974978:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1366603243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22973459
(GRCh38)
14:23442668
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973458:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1325249403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22973455
(GRCh38)
14:23442664
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973454:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1317568033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:22973537
(GRCh38)
14:23442746
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973536:C:G
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1287697120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22973554
(GRCh38)
14:23442763
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973553:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1285610066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:22973462
(GRCh38)
14:23442671
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973461:G:A,NC_000014.9:22973461:G:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
NC_000014.9:g.22973462G>A, NC_000014.9:g.22973462G>T, NC_000014.8:g.23442671G>A, NC_000014.8:g.23442671G>T, NM_032876.6:c.1598C>T, NM_032876.6:c.1598C>A, NM_032876.5:c.1598C>T, NM_032876.5:c.1598C>A, NM_032876.4:c.1598C>T, NM_032876.4:c.1598C>A, NM_198086.3:c.347C>T, NM_198086.3:c.347C>A, NM_198086.2:c.347C>T, NM_198086.2:c.347C>A, NM_198086.1:c.347C>T, NM_198086.1:c.347C>A, NP_116265.1:p.Pro533Leu, NP_116265.1:p.Pro533His, NP_932352.1:p.Pro116Leu, NP_932352.1:p.Pro116His
17.
rs1281198702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCAAGTGCCCA
[Show Flanks]
- Chromosome:
- 14:22973503
(GRCh38)
14:23442713
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973503:AGCAAGTGCCCA:AGCAAGTGCCCAGCAAGTGCCCA
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
AGCAAGTGCCCAGCAAGTGCCCA=0./0
(
ALFA)
- HGVS:
19.
rs1244333680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22974839
(GRCh38)
14:23444048
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22974838:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1235947266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:22975079
(GRCh38)
14:23444288
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22975078:T:C
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: