SNP Links for Protein (Select 149944680) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35622974 (GRCh38)
19:36113876 (GRCh37)
Canonical SPDI:: NC_000019.10:35622973:T:C
Gene:: HAUS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35622974T>C, NC_000019.9:g.36113876T>C, XM_011526684.3:c.1583T>C, XM_011526684.2:c.1583T>C, XM_011526684.1:c.1583T>C, NM_015302.2:c.1883T>C, NM_015302.1:c.1883T>C, XP_011524986.1:p.Leu528Pro, NP_056117.1:p.Leu628Pro

Select item 14822066177.

rs1482206617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35618673 (GRCh38)
19:36109575 (GRCh37)
Canonical SPDI:: NC_000019.10:35618672:G:A
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35618673G>A, NC_000019.9:g.36109575G>A, XM_011526684.3:c.690G>A, XM_011526684.2:c.690G>A, XM_011526684.1:c.690G>A, NM_015302.2:c.990G>A, NM_015302.1:c.990G>A, XM_047438524.1:c.990G>A, XM_047438525.1:c.*53G>A

Select item 14820730868.

rs1482073086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35622887 (GRCh38)
19:36113789 (GRCh37)
Canonical SPDI:: NC_000019.10:35622886:C:G
Gene:: HAUS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_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_000019.10:g.35622887C>G, NC_000019.9:g.36113789C>G, XM_011526684.3:c.1496C>G, XM_011526684.2:c.1496C>G, XM_011526684.1:c.1496C>G, NM_015302.2:c.1796C>G, NM_015302.1:c.1796C>G, XP_011524986.1:p.Pro499Arg, NP_056117.1:p.Pro599Arg

Select item 14808777869.

rs1480877786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35615285 (GRCh38)
19:36106187 (GRCh37)
Canonical SPDI:: NC_000019.10:35615284:C:T
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.35615285C>T, NC_000019.9:g.36106187C>T, XM_011526684.3:c.84C>T, XM_011526684.2:c.84C>T, XM_011526684.1:c.84C>T, NM_015302.2:c.384C>T, NM_015302.1:c.384C>T, XM_047438524.1:c.384C>T, XM_047438525.1:c.384C>T

Select item 147986611610.

rs1479866116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35620088 (GRCh38)
19:36110990 (GRCh37)
Canonical SPDI:: NC_000019.10:35620087:G:A
Gene:: HAUS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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_000019.10:g.35620088G>A, NC_000019.9:g.36110990G>A, XM_011526684.3:c.1183G>A, XM_011526684.2:c.1183G>A, XM_011526684.1:c.1183G>A, NM_015302.2:c.1483G>A, NM_015302.1:c.1483G>A, XM_047438524.1:c.1483G>A, XP_011524986.1:p.Ala395Thr, NP_056117.1:p.Ala495Thr, XP_047294480.1:p.Ala495Thr

Select item 147985934111.

rs1479859341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35618963 (GRCh38)
19:36109865 (GRCh37)
Canonical SPDI:: NC_000019.10:35618962:C:T
Gene:: HAUS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35618963C>T, NC_000019.9:g.36109865C>T, XM_011526684.3:c.793C>T, XM_011526684.2:c.793C>T, XM_011526684.1:c.793C>T, NM_015302.2:c.1093C>T, NM_015302.1:c.1093C>T, XM_047438524.1:c.1093C>T

Select item 147968217412.

rs1479682174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:35618408 (GRCh38)
19:36109310 (GRCh37)
Canonical SPDI:: NC_000019.10:35618407:G:C
Gene:: HAUS5 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35618408G>C, NC_000019.9:g.36109310G>C, XM_011526684.3:c.528G>C, XM_011526684.2:c.528G>C, XM_011526684.1:c.528G>C, NM_015302.2:c.828G>C, NM_015302.1:c.828G>C, XM_047438524.1:c.828G>C, XP_011524986.1:p.Gln176His, NP_056117.1:p.Gln276His, XP_047294480.1:p.Gln276His

Select item 147893774513.

rs1478937745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:35612828 (GRCh38)
19:36103730 (GRCh37)
Canonical SPDI:: NC_000019.10:35612827:T:C,NC_000019.10:35612827:T:G
Gene:: HAUS5 (Varview), HAUS5-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35612828T>C, NC_000019.10:g.35612828T>G, NC_000019.9:g.36103730T>C, NC_000019.9:g.36103730T>G, NM_015302.2:c.34T>C, NM_015302.2:c.34T>G, NM_015302.1:c.34T>C, NM_015302.1:c.34T>G, XM_047438524.1:c.34T>C, XM_047438524.1:c.34T>G, XM_047438525.1:c.34T>C, XM_047438525.1:c.34T>G, NP_056117.1:p.Cys12Arg, NP_056117.1:p.Cys12Gly, XP_047294480.1:p.Cys12Arg, XP_047294480.1:p.Cys12Gly, XP_047294481.1:p.Cys12Arg, XP_047294481.1:p.Cys12Gly

Select item 147642007514.

rs1476420075 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:35622971 (GRCh38)
19:36113873 (GRCh37)
Canonical SPDI:: NC_000019.10:35622970:CCC:CC
Gene:: HAUS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000019.10:g.35622973del, NC_000019.9:g.36113875del, XM_011526684.3:c.1582del, XM_011526684.2:c.1582del, XM_011526684.1:c.1582del, NM_015302.2:c.1882del, NM_015302.1:c.1882del, XP_011524986.1:p.Leu528fs, NP_056117.1:p.Leu628fs

Select item 147625520515.

rs1476255205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:35617308 (GRCh38)
19:36108210 (GRCh37)
Canonical SPDI:: NC_000019.10:35617307:A:C,NC_000019.10:35617307:A:G
Gene:: HAUS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.002729/5 (Korea1K)
HGVS:: NC_000019.10:g.35617308A>C, NC_000019.10:g.35617308A>G, NC_000019.9:g.36108210A>C, NC_000019.9:g.36108210A>G, XM_011526684.3:c.277A>C, XM_011526684.3:c.277A>G, XM_011526684.2:c.277A>C, XM_011526684.2:c.277A>G, XM_011526684.1:c.277A>C, XM_011526684.1:c.277A>G, NM_015302.2:c.577A>C, NM_015302.2:c.577A>G, NM_015302.1:c.577A>C, NM_015302.1:c.577A>G, XM_047438524.1:c.577A>C, XM_047438524.1:c.577A>G, XM_047438525.1:c.577A>C, XM_047438525.1:c.577A>G, XP_011524986.1:p.Thr93Pro, XP_011524986.1:p.Thr93Ala, NP_056117.1:p.Thr193Pro, NP_056117.1:p.Thr193Ala, XP_047294480.1:p.Thr193Pro, XP_047294480.1:p.Thr193Ala, XP_047294481.1:p.Thr193Pro, XP_047294481.1:p.Thr193Ala

Select item 147573496816.

rs1475734968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35622633 (GRCh38)
19:36113535 (GRCh37)
Canonical SPDI:: NC_000019.10:35622632:C:T
Gene:: HAUS5 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_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_000019.10:g.35622633C>T, NC_000019.9:g.36113535C>T, XM_011526684.3:c.1384C>T, XM_011526684.2:c.1384C>T, XM_011526684.1:c.1384C>T, NM_015302.2:c.1684C>T, NM_015302.1:c.1684C>T, XM_047438524.1:c.*81C>T, XP_011524986.1:p.Gln462Ter, NP_056117.1:p.Gln562Ter

Select item 147562669817.

rs1475626698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35617879 (GRCh38)
19:36108781 (GRCh37)
Canonical SPDI:: NC_000019.10:35617878:C:G
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.35617879C>G, NC_000019.9:g.36108781C>G, XM_011526684.3:c.363C>G, XM_011526684.2:c.363C>G, XM_011526684.1:c.363C>G, NM_015302.2:c.663C>G, NM_015302.1:c.663C>G, XM_047438524.1:c.663C>G, XM_047438525.1:c.663C>G

Select item 147386688618.

rs1473866886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:35617361 (GRCh38)
19:36108263 (GRCh37)
Canonical SPDI:: NC_000019.10:35617360:C:A
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35617361C>A, NC_000019.9:g.36108263C>A, XM_011526684.3:c.330C>A, XM_011526684.2:c.330C>A, XM_011526684.1:c.330C>A, NM_015302.2:c.630C>A, NM_015302.1:c.630C>A, XM_047438524.1:c.630C>A, XM_047438525.1:c.630C>A

Select item 147377767819.

rs1473777678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:35618682 (GRCh38)
19:36109584 (GRCh37)
Canonical SPDI:: NC_000019.10:35618681:C:A
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.35618682C>A, NC_000019.9:g.36109584C>A, XM_011526684.3:c.699C>A, XM_011526684.2:c.699C>A, XM_011526684.1:c.699C>A, NM_015302.2:c.999C>A, NM_015302.1:c.999C>A, XM_047438524.1:c.999C>A, XM_047438525.1:c.*62C>A

Select item 147376843420.

rs1473768434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35619726 (GRCh38)
19:36110628 (GRCh37)
Canonical SPDI:: NC_000019.10:35619725:G:A
Gene:: HAUS5 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35619726G>A, NC_000019.9:g.36110628G>A, XM_011526684.3:c.1074G>A, XM_011526684.2:c.1074G>A, XM_011526684.1:c.1074G>A, NM_015302.2:c.1374G>A, NM_015302.1:c.1374G>A, XM_047438524.1:c.1374G>A

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