Links from Protein
Items: 1 to 20 of 300
1.
rs1489975006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:106785078
(GRCh38)
X:106028308
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106785077:C:T
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000169/2
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1472726226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:106795618
(GRCh38)
X:106038848
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106795617:G:A
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
3.
rs1467705657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:106790232
(GRCh38)
X:106033462
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106790231:A:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
4.
rs1455464405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:106787985
(GRCh38)
X:106031215
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106787984:G:A
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00002/2
(GnomAD)
A=0.000064/17
(TOPMED)
- HGVS:
5.
rs1454708219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:106727019
(GRCh38)
X:105970249
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727018:T:C,NC_000023.11:106727018:T:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000023.11:g.106727019T>C, NC_000023.11:g.106727019T>G, NC_000023.10:g.105970249T>C, NC_000023.10:g.105970249T>G, NG_012576.1:g.38182T>C, NG_012576.1:g.38182T>G, NM_194463.2:c.106T>C, NM_194463.2:c.106T>G, NM_194463.1:c.106T>C, NM_194463.1:c.106T>G, NP_919445.1:p.Ser36Pro, NP_919445.1:p.Ser36Ala
6.
rs1453471740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:106726979
(GRCh38)
X:105970209
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106726978:A:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- intron_variant,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_exomes)
G=0.000009/1
(GnomAD)
- HGVS:
7.
rs1442632095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:106772913
(GRCh38)
X:106016143
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106772912:G:A
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000006/1
(GnomAD_exomes)
A=0.00001/1
(GnomAD)
A=0.001027/3
(KOREAN)
- HGVS:
8.
rs1437591292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:106790187
(GRCh38)
X:106033417
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106790186:C:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
10.
rs1433574273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:106795713
(GRCh38)
X:106038943
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106795712:A:T
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- terminator_codon_variant,stop_lost
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1430204117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:106727204
(GRCh38)
X:105970434
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727203:C:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
12.
rs1429264868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:106791094
(GRCh38)
X:106034324
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106791093:T:C
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000006/1
(GnomAD_exomes)
- HGVS:
13.
rs1429177343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:106727379
(GRCh38)
X:105970609
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727378:A:G
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
14.
rs1423642626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:106727318
(GRCh38)
X:105970548
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727317:T:C
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
15.
rs1421679234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:106727325
(GRCh38)
X:105970555
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727324:A:C
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
16.
rs1409827339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:106795581
(GRCh38)
X:106038811
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106795580:T:C
- Gene:
- RNF128 (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=0.00001/1
(GnomAD)
- HGVS:
17.
rs1408877754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:106773096
(GRCh38)
X:106016326
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106773095:T:C
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
18.
rs1407183143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:106727108
(GRCh38)
X:105970338
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106727107:G:A
- Gene:
- RNF128 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000012/2
(GnomAD_exomes)
- HGVS:
19.
rs1402724556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:106790255
(GRCh38)
X:106033485
(GRCh37)
- Canonical SPDI:
- NC_000023.11:106790254:T:C
- Gene:
- RNF128 (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=0.000006/1
(GnomAD_exomes)
C=0.00001/1
(GnomAD)
- HGVS: