SNP Links for Protein (Select 4504269) - SNP

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Links from Protein

Items: 1 to 20 of 228

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Select item 14913933481.

rs1491393348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:26251828 (GRCh38)
6:26252057 (GRCh37)
Canonical SPDI:: NC_000006.12:26251828:T:TT
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26251829dup, NC_000006.11:g.26252057dup, NM_003524.3:c.179dup, NM_003524.2:c.179dup, NP_003515.1:p.Met60fs

Select item 14912771052.

rs1491277105 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:26251828 (GRCh38)
6:26252056 (GRCh37)
Canonical SPDI:: NC_000006.12:26251827:AT:
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26251828_26251829del, NC_000006.11:g.26252056_26252057del, NM_003524.3:c.178_179del, NM_003524.2:c.178_179del, NP_003515.1:p.Met60fs

Select item 14895523863.

rs1489552386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26251682 (GRCh38)
6:26251910 (GRCh37)
Canonical SPDI:: NC_000006.12:26251681:C:G,NC_000006.12:26251681:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26251682C>G, NC_000006.12:g.26251682C>T, NC_000006.11:g.26251910C>G, NC_000006.11:g.26251910C>T, NM_003524.3:c.32C>G, NM_003524.3:c.32C>T, NM_003524.2:c.32C>G, NM_003524.2:c.32C>T, NP_003515.1:p.Pro11Arg, NP_003515.1:p.Pro11Leu

Select item 14892430644.

rs1489243064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26251710 (GRCh38)
6:26251938 (GRCh37)
Canonical SPDI:: NC_000006.12:26251709:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26251710C>T, NC_000006.11:g.26251938C>T, NM_003524.3:c.60C>T, NM_003524.2:c.60C>T

Select item 14891470785.

rs1489147078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26251914 (GRCh38)
6:26252142 (GRCh37)
Canonical SPDI:: NC_000006.12:26251913:G:C
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26251914G>C, NC_000006.11:g.26252142G>C, NM_003524.3:c.264G>C, NM_003524.2:c.264G>C

Select item 14861747556.

rs1486174755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26251750 (GRCh38)
6:26251978 (GRCh37)
Canonical SPDI:: NC_000006.12:26251749:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26251750C>T, NC_000006.11:g.26251978C>T, NM_003524.3:c.100C>T, NM_003524.2:c.100C>T, NP_003515.1:p.Arg34Cys

Select item 14859056887.

rs1485905688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26251670 (GRCh38)
6:26251898 (GRCh37)
Canonical SPDI:: NC_000006.12:26251669:C:A,NC_000006.12:26251669:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
HGVS:: NC_000006.12:g.26251670C>A, NC_000006.12:g.26251670C>T, NC_000006.11:g.26251898C>A, NC_000006.11:g.26251898C>T, NM_003524.3:c.20C>A, NM_003524.3:c.20C>T, NM_003524.2:c.20C>A, NM_003524.2:c.20C>T, NP_003515.1:p.Ser7Tyr, NP_003515.1:p.Ser7Phe

Select item 14794967338.

rs1479496733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26252018 (GRCh38)
6:26252246 (GRCh37)
Canonical SPDI:: NC_000006.12:26252017:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26252018C>T, NC_000006.11:g.26252246C>T, NM_003524.3:c.368C>T, NM_003524.2:c.368C>T, NP_003515.1:p.Thr123Ile

Select item 14771700999.

rs1477170099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26251860 (GRCh38)
6:26252088 (GRCh37)
Canonical SPDI:: NC_000006.12:26251859:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26251860C>T, NC_000006.11:g.26252088C>T, NM_003524.3:c.210C>T, NM_003524.2:c.210C>T

Select item 147453053910.

rs1474530539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26251733 (GRCh38)
6:26251961 (GRCh37)
Canonical SPDI:: NC_000006.12:26251732:A:G
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_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.26251733A>G, NC_000006.11:g.26251961A>G, NM_003524.3:c.83A>G, NM_003524.2:c.83A>G, NP_003515.1:p.Lys28Arg

Select item 147339544511.

rs1473395445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26251788 (GRCh38)
6:26252016 (GRCh37)
Canonical SPDI:: NC_000006.12:26251787:G:A
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26251788G>A, NC_000006.11:g.26252016G>A, NM_003524.3:c.138G>A, NM_003524.2:c.138G>A

Select item 146991434312.

rs1469914343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26251842 (GRCh38)
6:26252070 (GRCh37)
Canonical SPDI:: NC_000006.12:26251841:T:C
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.26251842T>C, NC_000006.11:g.26252070T>C, NM_003524.3:c.192T>C, NM_003524.2:c.192T>C

Select item 146900511613.

rs1469005116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26251798 (GRCh38)
6:26252026 (GRCh37)
Canonical SPDI:: NC_000006.12:26251797:C:G,NC_000006.12:26251797:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26251798C>G, NC_000006.12:g.26251798C>T, NC_000006.11:g.26252026C>G, NC_000006.11:g.26252026C>T, NM_003524.3:c.148C>G, NM_003524.3:c.148C>T, NM_003524.2:c.148C>G, NM_003524.2:c.148C>T, NP_003515.1:p.His50Asp, NP_003515.1:p.His50Tyr

Select item 146735607514.

rs1467356075 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:26251832 (GRCh38)
6:26252060 (GRCh37)
Canonical SPDI:: NC_000006.12:26251829:GGGG:GG
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26251832_26251833del, NC_000006.11:g.26252060_26252061del, NM_003524.3:c.182_183del, NM_003524.2:c.182_183del, NP_003515.1:p.Gly61fs

Select item 146685334115.

rs1466853341 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:26251848 (GRCh38)
6:26252077 (GRCh37)
Canonical SPDI:: NC_000006.12:26251848::A
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_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.26251848_26251849insA, NC_000006.11:g.26252076_26252077insA, NM_003524.3:c.198_199insA, NM_003524.2:c.198_199insA, NP_003515.1:p.Val67fs

Select item 145983756116.

rs1459837561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26252021 (GRCh38)
6:26252249 (GRCh37)
Canonical SPDI:: NC_000006.12:26252020:G:A
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26252021G>A, NC_000006.11:g.26252249G>A, NM_003524.3:c.371G>A, NM_003524.2:c.371G>A, NP_003515.1:p.Ser124Asn

Select item 145533173017.

rs1455331730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCAAGCACG [Show Flanks]
Chromosome:: 6:26251970 (GRCh38)
6:26252199 (GRCh37)
Canonical SPDI:: NC_000006.12:26251970:GGCCAAGCACG:GGCCAAGCACGGCCAAGCACG
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: GGCCAAGCAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26251972_26251981dup, NC_000006.11:g.26252200_26252209dup, NM_003524.3:c.322_331dup, NM_003524.2:c.322_331dup, NP_003515.1:p.Ala111fs

Select item 145432108518.

rs1454321085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26251982 (GRCh38)
6:26252210 (GRCh37)
Canonical SPDI:: NC_000006.12:26251981:C:G,NC_000006.12:26251981:C:T
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26251982C>G, NC_000006.12:g.26251982C>T, NC_000006.11:g.26252210C>G, NC_000006.11:g.26252210C>T, NM_003524.3:c.332C>G, NM_003524.3:c.332C>T, NM_003524.2:c.332C>G, NM_003524.2:c.332C>T, NP_003515.1:p.Ala111Gly, NP_003515.1:p.Ala111Val

Select item 144067915819.

rs1440679158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26251970 (GRCh38)
6:26252198 (GRCh37)
Canonical SPDI:: NC_000006.12:26251969:T:C
Gene:: H2BC9 (Varview), H3C7 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26251970T>C, NC_000006.11:g.26252198T>C, NM_003524.3:c.320T>C, NM_003524.2:c.320T>C, NP_003515.1:p.Leu107Pro

Select item 143223251120.

rs1432232511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26251694 (GRCh38)
6:26251922 (GRCh37)
Canonical SPDI:: NC_000006.12:26251693:C:T
Gene:: H2BC9 (Varview), H3C7 (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./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26251694C>T, NC_000006.11:g.26251922C>T, NM_003524.3:c.44C>T, NM_003524.2:c.44C>T, NP_003515.1:p.Ser15Phe