Links from Protein
Items: 1 to 20 of 162
1.
rs1490615200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26217000
(GRCh38)
6:26217228
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26216999:G:A
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
2.
rs1486970734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26217037
(GRCh38)
6:26217265
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217036:G:A
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1477519801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217096
(GRCh38)
6:26217324
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217095:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1475649865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:26217277
(GRCh38)
6:26217505
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217276:G:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1471222617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217024
(GRCh38)
6:26217252
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217023:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
6.
rs1467901935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26216981
(GRCh38)
6:26217209
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26216980:G:A
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1449811304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217344
(GRCh38)
6:26217572
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217343:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1449043607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217279
(GRCh38)
6:26217507
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217278:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1449000650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:26217366
(GRCh38)
6:26217594
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217365:G:A,NC_000006.12:26217365:G:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- synonymous_variant,stop_lost,upstream_transcript_variant,2KB_upstream_variant,terminator_codon_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.26217366G>A, NC_000006.12:g.26217366G>T, NC_000006.11:g.26217594G>A, NC_000006.11:g.26217594G>T, NM_021052.4:c.392G>A, NM_021052.4:c.392G>T, NM_021052.3:c.392G>A, NM_021052.3:c.392G>T, NM_021052.2:c.392G>A, NM_021052.2:c.392G>T, NP_066390.1:p.Ter131Leu
11.
rs1445364916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26217334
(GRCh38)
6:26217562
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217333:G:A
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,synonymous_variant,2KB_upstream_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)
- HGVS:
12.
rs1442130566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 6:26217182
(GRCh38)
6:26217410
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217181:G:C,NC_000006.12:26217181:G:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.26217182G>C, NC_000006.12:g.26217182G>T, NC_000006.11:g.26217410G>C, NC_000006.11:g.26217410G>T, NM_021052.4:c.208G>C, NM_021052.4:c.208G>T, NM_021052.3:c.208G>C, NM_021052.3:c.208G>T, NM_021052.2:c.208G>C, NM_021052.2:c.208G>T, NP_066390.1:p.Ala70Pro, NP_066390.1:p.Ala70Ser
13.
rs1440680789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:26217266
(GRCh38)
6:26217494
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217265:C:G,NC_000006.12:26217265:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.26217266C>G, NC_000006.12:g.26217266C>T, NC_000006.11:g.26217494C>G, NC_000006.11:g.26217494C>T, NM_021052.4:c.292C>G, NM_021052.4:c.292C>T, NM_021052.3:c.292C>G, NM_021052.3:c.292C>T, NM_021052.2:c.292C>G, NM_021052.2:c.292C>T, NP_066390.1:p.Leu98Val
14.
rs1440081263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217186
(GRCh38)
6:26217414
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217185:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1433442309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26217322
(GRCh38)
6:26217550
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217321:G:A
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000012/3
(GnomAD_exomes)
- HGVS:
17.
rs1426994353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217310
(GRCh38)
6:26217538
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217309:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1422448600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:26217004
(GRCh38)
6:26217232
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217003:A:G,NC_000006.12:26217003:A:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.26217004A>G, NC_000006.12:g.26217004A>T, NC_000006.11:g.26217232A>G, NC_000006.11:g.26217232A>T, NM_021052.4:c.30A>G, NM_021052.4:c.30A>T, NM_021052.3:c.30A>G, NM_021052.3:c.30A>T, NM_021052.2:c.30A>G, NM_021052.2:c.30A>T, NP_066390.1:p.Lys10Asn
19.
rs1413731245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217054
(GRCh38)
6:26217282
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217053:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1411593684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26217303
(GRCh38)
6:26217531
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26217302:C:T
- Gene:
- H2AC8 (Varview), H2BC8 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: