SNP Links for Protein (Select 10800132) - SNP

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Links from Protein

Items: 1 to 20 of 225

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Select item 14880007681.

rs1488000768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:27133356 (GRCh38)
6:27101135 (GRCh37)
Canonical SPDI:: NC_000006.12:27133355:C:T
Gene:: H2AC11 (Varview), H2BC11 (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=0.000004/1 (GnomAD_exomes)
T=0.000043/6 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.27133356C>T, NC_000006.11:g.27101135C>T, NM_021064.5:c.285C>T, NM_021064.4:c.285C>T

Select item 14816095812.

rs1481609581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:27133215 (GRCh38)
6:27100994 (GRCh37)
Canonical SPDI:: NC_000006.12:27133214:G:A
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.27133215G>A, NC_000006.11:g.27100994G>A, NM_021064.5:c.144G>A, NM_021064.4:c.144G>A

Select item 14807458243.

rs1480745824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:27133362 (GRCh38)
6:27101141 (GRCh37)
Canonical SPDI:: NC_000006.12:27133361:G:A,NC_000006.12:27133361:G:T
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.27133362G>A, NC_000006.12:g.27133362G>T, NC_000006.11:g.27101141G>A, NC_000006.11:g.27101141G>T, NM_021064.5:c.291G>A, NM_021064.5:c.291G>T, NM_021064.4:c.291G>A, NM_021064.4:c.291G>T

Select item 14796718104.

rs1479671810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:27133425 (GRCh38)
6:27101204 (GRCh37)
Canonical SPDI:: NC_000006.12:27133424:C:T
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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.27133425C>T, NC_000006.11:g.27101204C>T, NM_021064.5:c.354C>T, NM_021064.4:c.354C>T

Select item 14735860445.

rs1473586044 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:27133097 (GRCh38)
6:27100877 (GRCh37)
Canonical SPDI:: NC_000006.12:27133097::T
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00001/1 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000006.12:g.27133097_27133098insT, NC_000006.11:g.27100876_27100877insT, NM_021064.5:c.26_27insT, NM_021064.4:c.26_27insT, NP_066408.1:p.Lys10fs

Select item 14700189796.

rs1470018979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:27133338 (GRCh38)
6:27101117 (GRCh37)
Canonical SPDI:: NC_000006.12:27133337:C:A,NC_000006.12:27133337:C:T
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.27133338C>A, NC_000006.12:g.27133338C>T, NC_000006.11:g.27101117C>A, NC_000006.11:g.27101117C>T, NM_021064.5:c.267C>A, NM_021064.5:c.267C>T, NM_021064.4:c.267C>A, NM_021064.4:c.267C>T

Select item 14695851007.

rs1469585100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:27133293 (GRCh38)
6:27101072 (GRCh37)
Canonical SPDI:: NC_000006.12:27133292:C:G,NC_000006.12:27133292:C:T
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.27133293C>G, NC_000006.12:g.27133293C>T, NC_000006.11:g.27101072C>G, NC_000006.11:g.27101072C>T, NM_021064.5:c.222C>G, NM_021064.5:c.222C>T, NM_021064.4:c.222C>G, NM_021064.4:c.222C>T, NP_066408.1:p.Asn74Lys

Select item 14670138568.

rs1467013856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:27133263 (GRCh38)
6:27101042 (GRCh37)
Canonical SPDI:: NC_000006.12:27133262:G:A
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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)
HGVS:: NC_000006.12:g.27133263G>A, NC_000006.11:g.27101042G>A, NM_021064.5:c.192G>A, NM_021064.4:c.192G>A

Select item 14655283459.

rs1465528345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:27133264 (GRCh38)
6:27101043 (GRCh37)
Canonical SPDI:: NC_000006.12:27133263:G:C
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.27133264G>C, NC_000006.11:g.27101043G>C, NM_021064.5:c.193G>C, NM_021064.4:c.193G>C, NP_066408.1:p.Glu65Gln

Select item 146206235810.

rs1462062358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:27133211 (GRCh38)
6:27100990 (GRCh37)
Canonical SPDI:: NC_000006.12:27133210:G:C
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.27133211G>C, NC_000006.11:g.27100990G>C, NM_021064.5:c.140G>C, NM_021064.4:c.140G>C, NP_066408.1:p.Gly47Ala

Select item 145230550311.

rs1452305503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:27133136 (GRCh38)
6:27100915 (GRCh37)
Canonical SPDI:: NC_000006.12:27133135:C:T
Gene:: H2AC11 (Varview), H2BC11 (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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.27133136C>T, NC_000006.11:g.27100915C>T, NM_021064.5:c.65C>T, NM_021064.4:c.65C>T, NP_066408.1:p.Ala22Val

Select item 145195710112.

rs1451957101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:27133320 (GRCh38)
6:27101099 (GRCh37)
Canonical SPDI:: NC_000006.12:27133319:T:C
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.27133320T>C, NC_000006.11:g.27101099T>C, NM_021064.5:c.249T>C, NM_021064.4:c.249T>C

Select item 144256347513.

rs1442563475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:27133317 (GRCh38)
6:27101096 (GRCh37)
Canonical SPDI:: NC_000006.12:27133316:T:C
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.27133317T>C, NC_000006.11:g.27101096T>C, NM_021064.5:c.246T>C, NM_021064.4:c.246T>C

Select item 143251853914.

rs1432518539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:27133306 (GRCh38)
6:27101085 (GRCh37)
Canonical SPDI:: NC_000006.12:27133305:A:G
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.27133306A>G, NC_000006.11:g.27101085A>G, NM_021064.5:c.235A>G, NM_021064.4:c.235A>G, NP_066408.1:p.Ile79Val

Select item 143063212615.

rs1430632126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:27133134 (GRCh38)
6:27100913 (GRCh37)
Canonical SPDI:: NC_000006.12:27133133:G:A
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.27133134G>A, NC_000006.11:g.27100913G>A, NM_021064.5:c.63G>A, NM_021064.4:c.63G>A

Select item 141550767916.

rs1415507679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:27133123 (GRCh38)
6:27100902 (GRCh37)
Canonical SPDI:: NC_000006.12:27133122:C:G
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.27133123C>G, NC_000006.11:g.27100902C>G, NM_021064.5:c.52C>G, NM_021064.4:c.52C>G, NP_066408.1:p.Arg18Gly

Select item 140958151217.

rs1409581512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:27133303 (GRCh38)
6:27101082 (GRCh37)
Canonical SPDI:: NC_000006.12:27133302:C:A
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.27133303C>A, NC_000006.11:g.27101082C>A, NM_021064.5:c.232C>A, NM_021064.4:c.232C>A, NP_066408.1:p.Arg78Ser

Select item 140798539118.

rs1407985391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:27133182 (GRCh38)
6:27100961 (GRCh37)
Canonical SPDI:: NC_000006.12:27133181:A:G
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.27133182A>G, NC_000006.11:g.27100961A>G, NM_021064.5:c.111A>G, NM_021064.4:c.111A>G

Select item 140390478919.

rs1403904789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:27133207 (GRCh38)
6:27100986 (GRCh37)
Canonical SPDI:: NC_000006.12:27133206:G:C
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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.27133207G>C, NC_000006.11:g.27100986G>C, NM_021064.5:c.136G>C, NM_021064.4:c.136G>C, NP_066408.1:p.Ala46Pro

Select item 139715967120.

rs1397159671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:27133223 (GRCh38)
6:27101002 (GRCh37)
Canonical SPDI:: NC_000006.12:27133222:A:G
Gene:: H2AC11 (Varview), H2BC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.27133223A>G, NC_000006.11:g.27101002A>G, NM_021064.5:c.152A>G, NM_021064.4:c.152A>G, NP_066408.1:p.Tyr51Cys