SNP Links for Protein (Select 50301234) - SNP

Links from Protein

Items: 1 to 20 of 234

<< First< Prev

Page of 12

Next >Last >>

Select item 14908205521.

rs1490820552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:28744698 (GRCh38)
22:29140686 (GRCh37)
Canonical SPDI:: NC_000022.11:28744697:G:A,NC_000022.11:28744697:G:C
Gene:: HSCB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.28744698G>A, NC_000022.11:g.28744698G>C, NC_000022.10:g.29140686G>A, NC_000022.10:g.29140686G>C, NG_008150.2:g.2169C>T, NG_008150.2:g.2169C>G, XM_005261359.5:c.381G>A, XM_005261359.5:c.381G>C, XM_005261359.4:c.381G>A, XM_005261359.4:c.381G>C, XM_005261359.3:c.381G>A, XM_005261359.3:c.381G>C, XM_005261359.2:c.381G>A, XM_005261359.2:c.381G>C, XM_005261359.1:c.381G>A, XM_005261359.1:c.381G>C, NM_172002.5:c.417G>A, NM_172002.5:c.417G>C, NM_172002.4:c.417G>A, NM_172002.4:c.417G>C, NM_172002.3:c.417G>A, NM_172002.3:c.417G>C, XM_017028620.3:c.-52G>A, XM_017028620.3:c.-52G>C, XM_017028620.2:c.-52G>A, XM_017028620.2:c.-52G>C, XM_017028620.1:c.-52G>A, XM_017028620.1:c.-52G>C, NR_134560.2:n.419G>A, NR_134560.2:n.419G>C, NR_134560.1:n.426G>A, NR_134560.1:n.426G>C, NM_001318315.2:c.417G>A, NM_001318315.2:c.417G>C, NM_001318315.1:c.417G>A, NM_001318315.1:c.417G>C, NM_001318314.2:c.417G>A, NM_001318314.2:c.417G>C, NM_001318314.1:c.417G>A, NM_001318314.1:c.417G>C, NM_001318316.2:c.-57G>A, NM_001318316.2:c.-57G>C, NM_001318316.1:c.-57G>A, NM_001318316.1:c.-57G>C, NM_001363856.1:c.417G>A, NM_001363856.1:c.417G>C

Select item 14853213552.

rs1485321355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:28743898 (GRCh38)
22:29139886 (GRCh37)
Canonical SPDI:: NC_000022.11:28743897:G:C
Gene:: HSCB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.28743898G>C, NC_000022.10:g.29139886G>C, NG_008150.2:g.2969C>G, XM_005261359.5:c.217G>C, XM_005261359.4:c.217G>C, XM_005261359.3:c.217G>C, XM_005261359.2:c.217G>C, XM_005261359.1:c.217G>C, NM_172002.5:c.253G>C, NM_172002.4:c.253G>C, NM_172002.3:c.253G>C, XM_017028620.3:c.-216G>C, XM_017028620.2:c.-216G>C, XM_017028620.1:c.-216G>C, NR_134560.2:n.310G>C, NR_134560.1:n.317G>C, NM_001318315.2:c.253G>C, NM_001318315.1:c.253G>C, NM_001318314.2:c.253G>C, NM_001318314.1:c.253G>C, NM_001318316.2:c.-221G>C, NM_001318316.1:c.-221G>C, NM_001363856.1:c.253G>C, XP_005261416.1:p.Val73Leu, NP_741999.3:p.Val85Leu, NP_001305244.1:p.Val85Leu, NP_001305243.1:p.Val85Leu, NP_001350785.1:p.Val85Leu

Select item 14684799323.

rs1468479932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:28742131 (GRCh38)
22:29138119 (GRCh37)
Canonical SPDI:: NC_000022.11:28742130:G:A,NC_000022.11:28742130:G:T
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000022.11:g.28742131G>A, NC_000022.11:g.28742131G>T, NC_000022.10:g.29138119G>A, NC_000022.10:g.29138119G>T, NG_008150.2:g.4736C>T, NG_008150.2:g.4736C>A, XM_005261359.5:c.-50G>A, XM_005261359.5:c.-50G>T, XM_005261359.4:c.-50G>A, XM_005261359.4:c.-50G>T, XM_005261359.3:c.-50G>A, XM_005261359.3:c.-50G>T, XM_005261359.2:c.-50G>A, XM_005261359.2:c.-50G>T, XM_005261359.1:c.-50G>A, XM_005261359.1:c.-50G>T, NM_172002.5:c.36G>A, NM_172002.5:c.36G>T, NM_172002.4:c.36G>A, NM_172002.4:c.36G>T, NM_172002.3:c.36G>A, NM_172002.3:c.36G>T, NR_134560.2:n.93G>A, NR_134560.2:n.93G>T, NR_134560.1:n.100G>A, NR_134560.1:n.100G>T, NM_001318315.2:c.36G>A, NM_001318315.2:c.36G>T, NM_001318315.1:c.36G>A, NM_001318315.1:c.36G>T, NM_001318314.2:c.36G>A, NM_001318314.2:c.36G>T, NM_001318314.1:c.36G>A, NM_001318314.1:c.36G>T, NM_001363856.1:c.36G>A, NM_001363856.1:c.36G>T

Select item 14502141134.

rs1450214113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:28745882 (GRCh38)
22:29141870 (GRCh37)
Canonical SPDI:: NC_000022.11:28745881:G:A
Gene:: HSCB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.28745882G>A, NC_000022.10:g.29141870G>A, NG_008150.2:g.985C>T, XM_005261359.5:c.406G>A, XM_005261359.4:c.406G>A, XM_005261359.3:c.406G>A, XM_005261359.2:c.406G>A, XM_005261359.1:c.406G>A, NM_172002.5:c.442G>A, NM_172002.4:c.442G>A, NM_172002.3:c.442G>A, XM_017028620.3:c.-27G>A, XM_017028620.2:c.-27G>A, XM_017028620.1:c.-27G>A, NR_134560.2:n.444G>A, NR_134560.1:n.451G>A, NM_001318316.2:c.-27G>A, NM_001318316.1:c.-27G>A, NM_001363856.1:c.*15G>A, XP_005261416.1:p.Glu136Lys, NP_741999.3:p.Glu148Lys

Select item 14402511625.

rs1440251162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:28744642 (GRCh38)
22:29140630 (GRCh37)
Canonical SPDI:: NC_000022.11:28744641:T:C
Gene:: HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.28744642T>C, NC_000022.10:g.29140630T>C, NG_008150.2:g.2225A>G, XM_005261359.5:c.325T>C, XM_005261359.4:c.325T>C, XM_005261359.3:c.325T>C, XM_005261359.2:c.325T>C, XM_005261359.1:c.325T>C, NM_172002.5:c.361T>C, NM_172002.4:c.361T>C, NM_172002.3:c.361T>C, XM_017028620.3:c.-108T>C, XM_017028620.2:c.-108T>C, XM_017028620.1:c.-108T>C, NR_134560.2:n.363T>C, NR_134560.1:n.370T>C, NM_001318315.2:c.361T>C, NM_001318315.1:c.361T>C, NM_001318314.2:c.361T>C, NM_001318314.1:c.361T>C, NM_001318316.2:c.-113T>C, NM_001318316.1:c.-113T>C, NM_001363856.1:c.361T>C, XP_005261416.1:p.Ser109Pro, NP_741999.3:p.Ser121Pro, NP_001305244.1:p.Ser121Pro, NP_001305243.1:p.Ser121Pro, NP_001350785.1:p.Ser121Pro

Select item 14385014016.

rs1438501401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:28745911 (GRCh38)
22:29141899 (GRCh37)
Canonical SPDI:: NC_000022.11:28745910:G:A
Gene:: HSCB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,initiator_codon_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.28745911G>A, NC_000022.10:g.29141899G>A, NG_008150.2:g.956C>T, XM_005261359.5:c.435G>A, XM_005261359.4:c.435G>A, XM_005261359.3:c.435G>A, XM_005261359.2:c.435G>A, XM_005261359.1:c.435G>A, NM_172002.5:c.471G>A, NM_172002.4:c.471G>A, NM_172002.3:c.471G>A, XM_017028620.3:c.3G>A, XM_017028620.2:c.3G>A, XM_017028620.1:c.3G>A, NR_134560.2:n.473G>A, NR_134560.1:n.480G>A, NM_001318316.2:c.3G>A, NM_001318316.1:c.3G>A, NM_001363856.1:c.*44G>A, XP_005261416.1:p.Met145Ile, NP_741999.3:p.Met157Ile, XP_016884109.1:p.Met1Ile, NP_001305245.1:p.Met1Ile

Select item 14207023717.

rs1420702371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:28757143 (GRCh38)
22:29153131 (GRCh37)
Canonical SPDI:: NC_000022.11:28757142:A:G
Gene:: HSCB (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.28757143A>G, NC_000022.10:g.29153131A>G, XM_005261359.5:c.646A>G, XM_005261359.4:c.646A>G, XM_005261359.3:c.646A>G, XM_005261359.2:c.646A>G, XM_005261359.1:c.646A>G, NM_172002.5:c.682A>G, NM_172002.4:c.682A>G, NM_172002.3:c.682A>G, XM_017028620.3:c.214A>G, XM_017028620.2:c.214A>G, XM_017028620.1:c.214A>G, NR_134560.2:n.684A>G, NR_134560.1:n.691A>G, NM_001318315.2:c.*110A>G, NM_001318315.1:c.*110A>G, NM_001318314.2:c.*84A>G, NM_001318314.1:c.*84A>G, NM_001318316.2:c.214A>G, NM_001318316.1:c.214A>G, XP_005261416.1:p.Ile216Val, NP_741999.3:p.Ile228Val, XP_016884109.1:p.Ile72Val, NP_001305245.1:p.Ile72Val

Select item 14172482778.

rs1417248277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:28745870 (GRCh38)
22:29141858 (GRCh37)
Canonical SPDI:: NC_000022.11:28745869:C:T
Gene:: HSCB (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_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_000022.11:g.28745870C>T, NC_000022.10:g.29141858C>T, NG_008150.2:g.997G>A, XM_005261359.5:c.394C>T, XM_005261359.4:c.394C>T, XM_005261359.3:c.394C>T, XM_005261359.2:c.394C>T, XM_005261359.1:c.394C>T, NM_172002.5:c.430C>T, NM_172002.4:c.430C>T, NM_172002.3:c.430C>T, XM_017028620.3:c.-39C>T, XM_017028620.2:c.-39C>T, XM_017028620.1:c.-39C>T, NR_134560.2:n.432C>T, NR_134560.1:n.439C>T, NM_001318316.2:c.-39C>T, NM_001318316.1:c.-39C>T, NM_001363856.1:c.*3C>T, XP_005261416.1:p.Leu132Phe, NP_741999.3:p.Leu144Phe

Select item 14172310469.

rs1417231046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:28742151 (GRCh38)
22:29138139 (GRCh37)
Canonical SPDI:: NC_000022.11:28742150:G:T
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_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_000022.11:g.28742151G>T, NC_000022.10:g.29138139G>T, NG_008150.2:g.4716C>A, XM_005261359.5:c.-30G>T, XM_005261359.4:c.-30G>T, XM_005261359.3:c.-30G>T, XM_005261359.2:c.-30G>T, XM_005261359.1:c.-30G>T, NM_172002.5:c.56G>T, NM_172002.4:c.56G>T, NM_172002.3:c.56G>T, NR_134560.2:n.113G>T, NR_134560.1:n.120G>T, NM_001318315.2:c.56G>T, NM_001318315.1:c.56G>T, NM_001318314.2:c.56G>T, NM_001318314.1:c.56G>T, NM_001363856.1:c.56G>T, NP_741999.3:p.Gly19Val, NP_001305244.1:p.Gly19Val, NP_001305243.1:p.Gly19Val, NP_001350785.1:p.Gly19Val

Select item 141503571310.

rs1415035713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:28742233 (GRCh38)
22:29138221 (GRCh37)
Canonical SPDI:: NC_000022.11:28742232:C:T
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.28742233C>T, NC_000022.10:g.29138221C>T, NG_008150.2:g.4634G>A, XM_005261359.5:c.53C>T, XM_005261359.4:c.53C>T, XM_005261359.3:c.53C>T, XM_005261359.2:c.53C>T, XM_005261359.1:c.53C>T, NM_172002.5:c.138C>T, NM_172002.4:c.138C>T, NM_172002.3:c.138C>T, NR_134560.2:n.195C>T, NR_134560.1:n.202C>T, NM_001318315.2:c.138C>T, NM_001318315.1:c.138C>T, NM_001318314.2:c.138C>T, NM_001318314.1:c.138C>T, NM_001363856.1:c.138C>T, XP_005261416.1:p.Ala18Val

Select item 140424114611.

rs1404241146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:28742218 (GRCh38)
22:29138206 (GRCh37)
Canonical SPDI:: NC_000022.11:28742217:T:C
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.28742218T>C, NC_000022.10:g.29138206T>C, NG_008150.2:g.4649A>G, XM_005261359.5:c.38T>C, XM_005261359.4:c.38T>C, XM_005261359.3:c.38T>C, XM_005261359.2:c.38T>C, XM_005261359.1:c.38T>C, NM_172002.5:c.123T>C, NM_172002.4:c.123T>C, NM_172002.3:c.123T>C, NR_134560.2:n.180T>C, NR_134560.1:n.187T>C, NM_001318315.2:c.123T>C, NM_001318315.1:c.123T>C, NM_001318314.2:c.123T>C, NM_001318314.1:c.123T>C, NM_001363856.1:c.123T>C, XP_005261416.1:p.Val13Ala

Select item 140407004612.

rs1404070046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:28742230 (GRCh38)
22:29138218 (GRCh37)
Canonical SPDI:: NC_000022.11:28742229:C:A
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28742230C>A, NC_000022.10:g.29138218C>A, NG_008150.2:g.4637G>T, XM_005261359.5:c.50C>A, XM_005261359.4:c.50C>A, XM_005261359.3:c.50C>A, XM_005261359.2:c.50C>A, XM_005261359.1:c.50C>A, NM_172002.5:c.135C>A, NM_172002.4:c.135C>A, NM_172002.3:c.135C>A, NR_134560.2:n.192C>A, NR_134560.1:n.199C>A, NM_001318315.2:c.135C>A, NM_001318315.1:c.135C>A, NM_001318314.2:c.135C>A, NM_001318314.1:c.135C>A, NM_001363856.1:c.135C>A, XP_005261416.1:p.Ala17Glu

Select item 139716727813.

rs1397167278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:28757085 (GRCh38)
22:29153073 (GRCh37)
Canonical SPDI:: NC_000022.11:28757084:T:G
Gene:: HSCB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.28757085T>G, NC_000022.10:g.29153073T>G, XM_005261359.5:c.588T>G, XM_005261359.4:c.588T>G, XM_005261359.3:c.588T>G, XM_005261359.2:c.588T>G, XM_005261359.1:c.588T>G, NM_172002.5:c.624T>G, NM_172002.4:c.624T>G, NM_172002.3:c.624T>G, XM_017028620.3:c.156T>G, XM_017028620.2:c.156T>G, XM_017028620.1:c.156T>G, NR_134560.2:n.626T>G, NR_134560.1:n.633T>G, NM_001318315.2:c.*52T>G, NM_001318315.1:c.*52T>G, NM_001318314.2:c.*26T>G, NM_001318314.1:c.*26T>G, NM_001318316.2:c.156T>G, NM_001318316.1:c.156T>G, XP_005261416.1:p.Phe196Leu, NP_741999.3:p.Phe208Leu, XP_016884109.1:p.Phe52Leu, NP_001305245.1:p.Phe52Leu

Select item 139443106514.

rs1394431065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:28742105 (GRCh38)
22:29138093 (GRCh37)
Canonical SPDI:: NC_000022.11:28742104:G:A
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28742105G>A, NC_000022.10:g.29138093G>A, NG_008150.2:g.4762C>T, XM_005261359.5:c.-76G>A, XM_005261359.4:c.-76G>A, XM_005261359.3:c.-76G>A, XM_005261359.2:c.-76G>A, NM_172002.5:c.10G>A, NM_172002.4:c.10G>A, NM_172002.3:c.10G>A, NR_134560.2:n.67G>A, NR_134560.1:n.74G>A, NM_001318315.2:c.10G>A, NM_001318315.1:c.10G>A, NM_001318314.2:c.10G>A, NM_001318314.1:c.10G>A, NM_001363856.1:c.10G>A, NP_741999.3:p.Gly4Arg, NP_001305244.1:p.Gly4Arg, NP_001305243.1:p.Gly4Arg, NP_001350785.1:p.Gly4Arg

Select item 139278240115.

rs1392782401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:28743928 (GRCh38)
22:29139916 (GRCh37)
Canonical SPDI:: NC_000022.11:28743927:C:T
Gene:: HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28743928C>T, NC_000022.10:g.29139916C>T, NG_008150.2:g.2939G>A, XM_005261359.5:c.247C>T, XM_005261359.4:c.247C>T, XM_005261359.3:c.247C>T, XM_005261359.2:c.247C>T, XM_005261359.1:c.247C>T, NM_172002.5:c.283C>T, NM_172002.4:c.283C>T, NM_172002.3:c.283C>T, XM_017028620.3:c.-186C>T, XM_017028620.2:c.-186C>T, XM_017028620.1:c.-186C>T, NM_001318315.2:c.283C>T, NM_001318315.1:c.283C>T, NM_001318314.2:c.283C>T, NM_001318314.1:c.283C>T, NM_001318316.2:c.-191C>T, NM_001318316.1:c.-191C>T, NM_001363856.1:c.283C>T, XP_005261416.1:p.Gln83Ter, NP_741999.3:p.Gln95Ter, NP_001305244.1:p.Gln95Ter, NP_001305243.1:p.Gln95Ter, NP_001350785.1:p.Gln95Ter

Select item 139241341316.

rs1392413413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:28742102 (GRCh38)
22:29138090 (GRCh37)
Canonical SPDI:: NC_000022.11:28742101:C:T
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28742102C>T, NC_000022.10:g.29138090C>T, NG_008150.2:g.4765G>A, XM_005261359.5:c.-79C>T, XM_005261359.4:c.-79C>T, XM_005261359.3:c.-79C>T, XM_005261359.2:c.-79C>T, NM_172002.5:c.7C>T, NM_172002.4:c.7C>T, NM_172002.3:c.7C>T, NR_134560.2:n.64C>T, NR_134560.1:n.71C>T, NM_001318315.2:c.7C>T, NM_001318315.1:c.7C>T, NM_001318314.2:c.7C>T, NM_001318314.1:c.7C>T, NM_001363856.1:c.7C>T, NP_741999.3:p.Arg3Trp, NP_001305244.1:p.Arg3Trp, NP_001305243.1:p.Arg3Trp, NP_001350785.1:p.Arg3Trp

Select item 139132360217.

rs1391323602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:28742312 (GRCh38)
22:29138300 (GRCh37)
Canonical SPDI:: NC_000022.11:28742311:T:G
Gene:: CHEK2 (Varview), HSCB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28742312T>G, NC_000022.10:g.29138300T>G, NG_008150.2:g.4555A>C, XM_005261359.5:c.132T>G, XM_005261359.4:c.132T>G, XM_005261359.3:c.132T>G, XM_005261359.2:c.132T>G, XM_005261359.1:c.132T>G, NM_172002.5:c.217T>G, NM_172002.4:c.217T>G, NM_172002.3:c.217T>G, NR_134560.2:n.274T>G, NR_134560.1:n.281T>G, NM_001318315.2:c.217T>G, NM_001318315.1:c.217T>G, NM_001318314.2:c.217T>G, NM_001318314.1:c.217T>G, NM_001363856.1:c.217T>G, NP_741999.3:p.Tyr73Asp, NP_001305244.1:p.Tyr73Asp, NP_001305243.1:p.Tyr73Asp, NP_001350785.1:p.Tyr73Asp

Select item 138532610118.

rs1385326101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:28745982 (GRCh38)
22:29141970 (GRCh37)
Canonical SPDI:: NC_000022.11:28745981:T:C
Gene:: HSCB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.00007/1 (TOMMO)
HGVS:: NC_000022.11:g.28745982T>C, NC_000022.10:g.29141970T>C, NG_008150.2:g.885A>G, XM_005261359.5:c.506T>C, XM_005261359.4:c.506T>C, XM_005261359.3:c.506T>C, XM_005261359.2:c.506T>C, XM_005261359.1:c.506T>C, NM_172002.5:c.542T>C, NM_172002.4:c.542T>C, NM_172002.3:c.542T>C, XM_017028620.3:c.74T>C, XM_017028620.2:c.74T>C, XM_017028620.1:c.74T>C, NR_134560.2:n.544T>C, NR_134560.1:n.551T>C, NM_001318316.2:c.74T>C, NM_001318316.1:c.74T>C, NM_001363856.1:c.*115T>C, XP_005261416.1:p.Met169Thr, NP_741999.3:p.Met181Thr, XP_016884109.1:p.Met25Thr, NP_001305245.1:p.Met25Thr

Select item 138412256519.

rs1384122565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:28757102 (GRCh38)
22:29153090 (GRCh37)
Canonical SPDI:: NC_000022.11:28757101:T:C
Gene:: HSCB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.28757102T>C, NC_000022.10:g.29153090T>C, XM_005261359.5:c.605T>C, XM_005261359.4:c.605T>C, XM_005261359.3:c.605T>C, XM_005261359.2:c.605T>C, XM_005261359.1:c.605T>C, NM_172002.5:c.641T>C, NM_172002.4:c.641T>C, NM_172002.3:c.641T>C, XM_017028620.3:c.173T>C, XM_017028620.2:c.173T>C, XM_017028620.1:c.173T>C, NR_134560.2:n.643T>C, NR_134560.1:n.650T>C, NM_001318315.2:c.*69T>C, NM_001318315.1:c.*69T>C, NM_001318314.2:c.*43T>C, NM_001318314.1:c.*43T>C, NM_001318316.2:c.173T>C, NM_001318316.1:c.173T>C, XP_005261416.1:p.Ile202Thr, NP_741999.3:p.Ile214Thr, XP_016884109.1:p.Ile58Thr, NP_001305245.1:p.Ile58Thr

Select item 137790597920.

rs1377905979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:28745955 (GRCh38)
22:29141943 (GRCh37)
Canonical SPDI:: NC_000022.11:28745954:T:C
Gene:: HSCB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.28745955T>C, NC_000022.10:g.29141943T>C, NG_008150.2:g.912A>G, XM_005261359.5:c.479T>C, XM_005261359.4:c.479T>C, XM_005261359.3:c.479T>C, XM_005261359.2:c.479T>C, XM_005261359.1:c.479T>C, NM_172002.5:c.515T>C, NM_172002.4:c.515T>C, NM_172002.3:c.515T>C, XM_017028620.3:c.47T>C, XM_017028620.2:c.47T>C, XM_017028620.1:c.47T>C, NR_134560.2:n.517T>C, NR_134560.1:n.524T>C, NM_001318316.2:c.47T>C, NM_001318316.1:c.47T>C, NM_001363856.1:c.*88T>C, XP_005261416.1:p.Leu160Pro, NP_741999.3:p.Leu172Pro, XP_016884109.1:p.Leu16Pro, NP_001305245.1:p.Leu16Pro

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 234

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity