SNP Links for Protein (Select 578822255) - SNP

Links from Protein

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Select item 14907705091.

rs1490770509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111363307 (GRCh38)
11:111234032 (GRCh37)
Canonical SPDI:: NC_000011.10:111363306:T:C
Gene:: POU2AF1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000011.10:g.111363307T>C, NC_000011.9:g.111234032T>C, XM_006718860.5:c.29A>G, XM_006718860.4:c.29A>G, XM_006718860.3:c.29A>G, XM_006718860.2:c.29A>G, XM_006718860.1:c.29A>G, XM_005271593.3:c.29A>G, XM_005271593.2:c.29A>G, XM_005271593.1:c.29A>G, XP_006718923.1:p.Lys10Arg, XP_005271650.1:p.Lys10Arg

Select item 14833569712.

rs1483356971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111357598 (GRCh38)
11:111228323 (GRCh37)
Canonical SPDI:: NC_000011.10:111357597:T:C
Gene:: POU2AF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111357598T>C, NC_000011.9:g.111228323T>C, XM_006718860.5:c.444A>G, XM_006718860.4:c.444A>G, XM_006718860.3:c.444A>G, XM_006718860.2:c.444A>G, XM_006718860.1:c.444A>G, XM_005271593.3:c.444A>G, XM_005271593.2:c.444A>G, XM_005271593.1:c.444A>G, NM_006235.3:c.303A>G, NM_006235.2:c.303A>G, XM_017017932.2:c.303A>G, XM_017017932.1:c.303A>G, XM_006718859.2:c.363A>G, XM_006718859.1:c.363A>G, XM_047427137.1:c.96A>G

Select item 14791849523.

rs1479184952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:111358789 (GRCh38)
11:111229514 (GRCh37)
Canonical SPDI:: NC_000011.10:111358788:G:A,NC_000011.10:111358788:G:C
Gene:: POU2AF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_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_000011.10:g.111358789G>A, NC_000011.10:g.111358789G>C, NC_000011.9:g.111229514G>A, NC_000011.9:g.111229514G>C, XM_006718860.5:c.287C>T, XM_006718860.5:c.287C>G, XM_006718860.4:c.287C>T, XM_006718860.4:c.287C>G, XM_006718860.3:c.287C>T, XM_006718860.3:c.287C>G, XM_006718860.2:c.287C>T, XM_006718860.2:c.287C>G, XM_006718860.1:c.287C>T, XM_006718860.1:c.287C>G, XM_005271593.3:c.287C>T, XM_005271593.3:c.287C>G, XM_005271593.2:c.287C>T, XM_005271593.2:c.287C>G, XM_005271593.1:c.287C>T, XM_005271593.1:c.287C>G, NM_006235.3:c.146C>T, NM_006235.3:c.146C>G, NM_006235.2:c.146C>T, NM_006235.2:c.146C>G, XM_017017932.2:c.146C>T, XM_017017932.2:c.146C>G, XM_017017932.1:c.146C>T, XM_017017932.1:c.146C>G, XM_006718859.2:c.206C>T, XM_006718859.2:c.206C>G, XM_006718859.1:c.206C>T, XM_006718859.1:c.206C>G, XM_047427137.1:c.-62C>T, XM_047427137.1:c.-62C>G, XP_006718923.1:p.Ala96Val, XP_006718923.1:p.Ala96Gly, XP_005271650.1:p.Ala96Val, XP_005271650.1:p.Ala96Gly, NP_006226.2:p.Ala49Val, NP_006226.2:p.Ala49Gly, XP_016873421.1:p.Ala49Val, XP_016873421.1:p.Ala49Gly, XP_006718922.1:p.Ala69Val, XP_006718922.1:p.Ala69Gly

Select item 14718879404.

rs1471887940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:111357812 (GRCh38)
11:111228537 (GRCh37)
Canonical SPDI:: NC_000011.10:111357811:G:A,NC_000011.10:111357811:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.111357812G>A, NC_000011.10:g.111357812G>T, NC_000011.9:g.111228537G>A, NC_000011.9:g.111228537G>T, XM_006718860.5:c.314C>T, XM_006718860.5:c.314C>A, XM_006718860.4:c.314C>T, XM_006718860.4:c.314C>A, XM_006718860.3:c.314C>T, XM_006718860.3:c.314C>A, XM_006718860.2:c.314C>T, XM_006718860.2:c.314C>A, XM_006718860.1:c.314C>T, XM_006718860.1:c.314C>A, XM_005271593.3:c.314C>T, XM_005271593.3:c.314C>A, XM_005271593.2:c.314C>T, XM_005271593.2:c.314C>A, XM_005271593.1:c.314C>T, XM_005271593.1:c.314C>A, NM_006235.3:c.173C>T, NM_006235.3:c.173C>A, NM_006235.2:c.173C>T, NM_006235.2:c.173C>A, XM_017017932.2:c.173C>T, XM_017017932.2:c.173C>A, XM_017017932.1:c.173C>T, XM_017017932.1:c.173C>A, XM_006718859.2:c.233C>T, XM_006718859.2:c.233C>A, XM_006718859.1:c.233C>T, XM_006718859.1:c.233C>A, XM_047427137.1:c.-35C>T, XM_047427137.1:c.-35C>A, XP_006718923.1:p.Ala105Val, XP_006718923.1:p.Ala105Glu, XP_005271650.1:p.Ala105Val, XP_005271650.1:p.Ala105Glu, NP_006226.2:p.Ala58Val, NP_006226.2:p.Ala58Glu, XP_016873421.1:p.Ala58Val, XP_016873421.1:p.Ala58Glu, XP_006718922.1:p.Ala78Val, XP_006718922.1:p.Ala78Glu

Select item 14644925805.

rs1464492580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:111363322 (GRCh38)
11:111234047 (GRCh37)
Canonical SPDI:: NC_000011.10:111363321:T:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111363322T>G, NC_000011.9:g.111234047T>G, XM_006718860.5:c.14A>C, XM_006718860.4:c.14A>C, XM_006718860.3:c.14A>C, XM_006718860.2:c.14A>C, XM_006718860.1:c.14A>C, XM_005271593.3:c.14A>C, XM_005271593.2:c.14A>C, XM_005271593.1:c.14A>C, XP_006718923.1:p.Gln5Pro, XP_005271650.1:p.Gln5Pro

Select item 14643041496.

rs1464304149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111357547 (GRCh38)
11:111228272 (GRCh37)
Canonical SPDI:: NC_000011.10:111357546:G:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111357547G>A, NC_000011.9:g.111228272G>A, XM_006718860.5:c.495C>T, XM_006718860.4:c.495C>T, XM_006718860.3:c.495C>T, XM_006718860.2:c.495C>T, XM_006718860.1:c.495C>T, XM_005271593.3:c.495C>T, XM_005271593.2:c.495C>T, XM_005271593.1:c.495C>T, NM_006235.3:c.354C>T, NM_006235.2:c.354C>T, XM_017017932.2:c.354C>T, XM_017017932.1:c.354C>T, XM_006718859.2:c.414C>T, XM_006718859.1:c.414C>T, XM_047427137.1:c.147C>T

Select item 14618259917.

rs1461825991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111358866 (GRCh38)
11:111229591 (GRCh37)
Canonical SPDI:: NC_000011.10:111358865:A:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.111358866A>G, NC_000011.9:g.111229591A>G, XM_006718860.5:c.210T>C, XM_006718860.4:c.210T>C, XM_006718860.3:c.210T>C, XM_006718860.2:c.210T>C, XM_006718860.1:c.210T>C, XM_005271593.3:c.210T>C, XM_005271593.2:c.210T>C, XM_005271593.1:c.210T>C, NM_006235.3:c.69T>C, NM_006235.2:c.69T>C, XM_017017932.2:c.69T>C, XM_017017932.1:c.69T>C, XM_006718859.2:c.129T>C, XM_006718859.1:c.129T>C, XM_047427137.1:c.-139T>C

Select item 14608815358.

rs1460881535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111363181 (GRCh38)
11:111233906 (GRCh37)
Canonical SPDI:: NC_000011.10:111363180:C:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111363181C>G, NC_000011.9:g.111233906C>G, XM_006718860.5:c.155G>C, XM_006718860.4:c.155G>C, XM_006718860.3:c.155G>C, XM_006718860.2:c.155G>C, XM_006718860.1:c.155G>C, XM_005271593.3:c.155G>C, XM_005271593.2:c.155G>C, XM_005271593.1:c.155G>C, XP_006718923.1:p.Arg52Thr, XP_005271650.1:p.Arg52Thr

Select item 14522282079.

rs1452228207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:111357467 (GRCh38)
11:111228192 (GRCh37)
Canonical SPDI:: NC_000011.10:111357466:G:A,NC_000011.10:111357466:G:C
Gene:: POU2AF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111357467G>A, NC_000011.10:g.111357467G>C, NC_000011.9:g.111228192G>A, NC_000011.9:g.111228192G>C, XM_006718860.5:c.575C>T, XM_006718860.5:c.575C>G, XM_006718860.4:c.575C>T, XM_006718860.4:c.575C>G, XM_006718860.3:c.575C>T, XM_006718860.3:c.575C>G, XM_006718860.2:c.575C>T, XM_006718860.2:c.575C>G, XM_006718860.1:c.575C>T, XM_006718860.1:c.575C>G, XM_005271593.3:c.575C>T, XM_005271593.3:c.575C>G, XM_005271593.2:c.575C>T, XM_005271593.2:c.575C>G, XM_005271593.1:c.575C>T, XM_005271593.1:c.575C>G, NM_006235.3:c.434C>T, NM_006235.3:c.434C>G, NM_006235.2:c.434C>T, NM_006235.2:c.434C>G, XM_017017932.2:c.434C>T, XM_017017932.2:c.434C>G, XM_017017932.1:c.434C>T, XM_017017932.1:c.434C>G, XM_006718859.2:c.494C>T, XM_006718859.2:c.494C>G, XM_006718859.1:c.494C>T, XM_006718859.1:c.494C>G, XM_047427137.1:c.227C>T, XM_047427137.1:c.227C>G, XP_006718923.1:p.Pro192Leu, XP_006718923.1:p.Pro192Arg, XP_005271650.1:p.Pro192Leu, XP_005271650.1:p.Pro192Arg, NP_006226.2:p.Pro145Leu, NP_006226.2:p.Pro145Arg, XP_016873421.1:p.Pro145Leu, XP_016873421.1:p.Pro145Arg, XP_006718922.1:p.Pro165Leu, XP_006718922.1:p.Pro165Arg, XP_047283093.1:p.Pro76Leu, XP_047283093.1:p.Pro76Arg

Select item 145043790810.

rs1450437908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:111363279 (GRCh38)
11:111234004 (GRCh37)
Canonical SPDI:: NC_000011.10:111363278:C:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.111363279C>A, NC_000011.9:g.111234004C>A, XM_006718860.5:c.57G>T, XM_006718860.4:c.57G>T, XM_006718860.3:c.57G>T, XM_006718860.2:c.57G>T, XM_006718860.1:c.57G>T, XM_005271593.3:c.57G>T, XM_005271593.2:c.57G>T, XM_005271593.1:c.57G>T, XP_006718923.1:p.Trp19Cys, XP_005271650.1:p.Trp19Cys

Select item 144769008511.

rs1447690085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:111363300 (GRCh38)
11:111234025 (GRCh37)
Canonical SPDI:: NC_000011.10:111363299:A:C
Gene:: POU2AF1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.111363300A>C, NC_000011.9:g.111234025A>C, XM_006718860.5:c.36T>G, XM_006718860.4:c.36T>G, XM_006718860.3:c.36T>G, XM_006718860.2:c.36T>G, XM_006718860.1:c.36T>G, XM_005271593.3:c.36T>G, XM_005271593.2:c.36T>G, XM_005271593.1:c.36T>G

Select item 144730072412.

rs1447300724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111358837 (GRCh38)
11:111229562 (GRCh37)
Canonical SPDI:: NC_000011.10:111358836:C:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.111358837C>T, NC_000011.9:g.111229562C>T, XM_006718860.5:c.239G>A, XM_006718860.4:c.239G>A, XM_006718860.3:c.239G>A, XM_006718860.2:c.239G>A, XM_006718860.1:c.239G>A, XM_005271593.3:c.239G>A, XM_005271593.2:c.239G>A, XM_005271593.1:c.239G>A, NM_006235.3:c.98G>A, NM_006235.2:c.98G>A, XM_017017932.2:c.98G>A, XM_017017932.1:c.98G>A, XM_006718859.2:c.158G>A, XM_006718859.1:c.158G>A, XM_047427137.1:c.-110G>A, XP_006718923.1:p.Arg80Lys, XP_005271650.1:p.Arg80Lys, NP_006226.2:p.Arg33Lys, XP_016873421.1:p.Arg33Lys, XP_006718922.1:p.Arg53Lys

Select item 143886860813.

rs1438868608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111356417 (GRCh38)
11:111227142 (GRCh37)
Canonical SPDI:: NC_000011.10:111356416:C:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111356417C>T, NC_000011.9:g.111227142C>T, XM_006718860.5:c.614G>A, XM_006718860.4:c.614G>A, XM_006718860.3:c.614G>A, XM_006718860.2:c.614G>A, XM_006718860.1:c.614G>A, XM_017017932.2:c.473G>A, XM_017017932.1:c.473G>A

Select item 143498099414.

rs1434980994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111357697 (GRCh38)
11:111228422 (GRCh37)
Canonical SPDI:: NC_000011.10:111357696:C:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.111357697C>G, NC_000011.9:g.111228422C>G, XM_006718860.5:c.345G>C, XM_006718860.4:c.345G>C, XM_006718860.3:c.345G>C, XM_006718860.2:c.345G>C, XM_006718860.1:c.345G>C, XM_005271593.3:c.345G>C, XM_005271593.2:c.345G>C, XM_005271593.1:c.345G>C, NM_006235.3:c.204G>C, NM_006235.2:c.204G>C, XM_017017932.2:c.204G>C, XM_017017932.1:c.204G>C, XM_006718859.2:c.264G>C, XM_006718859.1:c.264G>C, XM_047427137.1:c.-4G>C

Select item 143129399715.

rs1431293997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111357615 (GRCh38)
11:111228340 (GRCh37)
Canonical SPDI:: NC_000011.10:111357614:G:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.111357615G>A, NC_000011.9:g.111228340G>A, XM_006718860.5:c.427C>T, XM_006718860.4:c.427C>T, XM_006718860.3:c.427C>T, XM_006718860.2:c.427C>T, XM_006718860.1:c.427C>T, XM_005271593.3:c.427C>T, XM_005271593.2:c.427C>T, XM_005271593.1:c.427C>T, NM_006235.3:c.286C>T, NM_006235.2:c.286C>T, XM_017017932.2:c.286C>T, XM_017017932.1:c.286C>T, XM_006718859.2:c.346C>T, XM_006718859.1:c.346C>T, XM_047427137.1:c.79C>T

Select item 142763473916.

rs1427634739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111357679 (GRCh38)
11:111228404 (GRCh37)
Canonical SPDI:: NC_000011.10:111357678:C:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_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)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.111357679C>G, NC_000011.9:g.111228404C>G, XM_006718860.5:c.363G>C, XM_006718860.4:c.363G>C, XM_006718860.3:c.363G>C, XM_006718860.2:c.363G>C, XM_006718860.1:c.363G>C, XM_005271593.3:c.363G>C, XM_005271593.2:c.363G>C, XM_005271593.1:c.363G>C, NM_006235.3:c.222G>C, NM_006235.2:c.222G>C, XM_017017932.2:c.222G>C, XM_017017932.1:c.222G>C, XM_006718859.2:c.282G>C, XM_006718859.1:c.282G>C, XM_047427137.1:c.15G>C

Select item 142395037917.

rs1423950379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:111357514 (GRCh38)
11:111228239 (GRCh37)
Canonical SPDI:: NC_000011.10:111357513:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111357514G>T, NC_000011.9:g.111228239G>T, XM_006718860.5:c.528C>A, XM_006718860.4:c.528C>A, XM_006718860.3:c.528C>A, XM_006718860.2:c.528C>A, XM_006718860.1:c.528C>A, XM_005271593.3:c.528C>A, XM_005271593.2:c.528C>A, XM_005271593.1:c.528C>A, NM_006235.3:c.387C>A, NM_006235.2:c.387C>A, XM_017017932.2:c.387C>A, XM_017017932.1:c.387C>A, XM_006718859.2:c.447C>A, XM_006718859.1:c.447C>A, XM_047427137.1:c.180C>A

Select item 142307143118.

rs1423071431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:111363328 (GRCh38)
11:111234053 (GRCh37)
Canonical SPDI:: NC_000011.10:111363327:G:C,NC_000011.10:111363327:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.111363328G>C, NC_000011.10:g.111363328G>T, NC_000011.9:g.111234053G>C, NC_000011.9:g.111234053G>T, XM_006718860.5:c.8C>G, XM_006718860.5:c.8C>A, XM_006718860.4:c.8C>G, XM_006718860.4:c.8C>A, XM_006718860.3:c.8C>G, XM_006718860.3:c.8C>A, XM_006718860.2:c.8C>G, XM_006718860.2:c.8C>A, XM_006718860.1:c.8C>G, XM_006718860.1:c.8C>A, XM_005271593.3:c.8C>G, XM_005271593.3:c.8C>A, XM_005271593.2:c.8C>G, XM_005271593.2:c.8C>A, XM_005271593.1:c.8C>G, XM_005271593.1:c.8C>A, XP_006718923.1:p.Thr3Ser, XP_006718923.1:p.Thr3Asn, XP_005271650.1:p.Thr3Ser, XP_005271650.1:p.Thr3Asn

Select item 142277037119.

rs1422770371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:111358913 (GRCh38)
11:111229638 (GRCh37)
Canonical SPDI:: NC_000011.10:111358912:C:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111358913C>A, NC_000011.9:g.111229638C>A, XM_006718860.5:c.163G>T, XM_006718860.4:c.163G>T, XM_006718860.3:c.163G>T, XM_006718860.2:c.163G>T, XM_006718860.1:c.163G>T, XM_005271593.3:c.163G>T, XM_005271593.2:c.163G>T, XM_005271593.1:c.163G>T, NM_006235.3:c.22G>T, NM_006235.2:c.22G>T, XM_017017932.2:c.22G>T, XM_017017932.1:c.22G>T, XM_006718859.2:c.82G>T, XM_006718859.1:c.82G>T, XM_047427137.1:c.-186G>T, XP_006718923.1:p.Ala55Ser, XP_005271650.1:p.Ala55Ser, NP_006226.2:p.Ala8Ser, XP_016873421.1:p.Ala8Ser, XP_006718922.1:p.Ala28Ser

Select item 141219478620.

rs1412194786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:111358795 (GRCh38)
11:111229520 (GRCh37)
Canonical SPDI:: NC_000011.10:111358794:G:A,NC_000011.10:111358794:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111358795G>A, NC_000011.10:g.111358795G>T, NC_000011.9:g.111229520G>A, NC_000011.9:g.111229520G>T, XM_006718860.5:c.281C>T, XM_006718860.5:c.281C>A, XM_006718860.4:c.281C>T, XM_006718860.4:c.281C>A, XM_006718860.3:c.281C>T, XM_006718860.3:c.281C>A, XM_006718860.2:c.281C>T, XM_006718860.2:c.281C>A, XM_006718860.1:c.281C>T, XM_006718860.1:c.281C>A, XM_005271593.3:c.281C>T, XM_005271593.3:c.281C>A, XM_005271593.2:c.281C>T, XM_005271593.2:c.281C>A, XM_005271593.1:c.281C>T, XM_005271593.1:c.281C>A, NM_006235.3:c.140C>T, NM_006235.3:c.140C>A, NM_006235.2:c.140C>T, NM_006235.2:c.140C>A, XM_017017932.2:c.140C>T, XM_017017932.2:c.140C>A, XM_017017932.1:c.140C>T, XM_017017932.1:c.140C>A, XM_006718859.2:c.200C>T, XM_006718859.2:c.200C>A, XM_006718859.1:c.200C>T, XM_006718859.1:c.200C>A, XM_047427137.1:c.-68C>T, XM_047427137.1:c.-68C>A, XP_006718923.1:p.Pro94Leu, XP_006718923.1:p.Pro94His, XP_005271650.1:p.Pro94Leu, XP_005271650.1:p.Pro94His, NP_006226.2:p.Pro47Leu, NP_006226.2:p.Pro47His, XP_016873421.1:p.Pro47Leu, XP_016873421.1:p.Pro47His, XP_006718922.1:p.Pro67Leu, XP_006718922.1:p.Pro67His

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