SNP Links for Protein (Select 578822253) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 278

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Select item 14866109931.

rs1486610993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111377774 (GRCh38)
11:111248499 (GRCh37)
Canonical SPDI:: NC_000011.10:111377773:C:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_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_000011.10:g.111377774C>T, NC_000011.9:g.111248499C>T, XM_006718859.2:c.76G>A, XM_006718859.1:c.76G>A, XP_006718922.1:p.Ala26Thr

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 14729370714.

rs1472937071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:111354512 (GRCh38)
11:111225237 (GRCh37)
Canonical SPDI:: NC_000011.10:111354511:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: 3_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)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111354512G>T, NC_000011.9:g.111225237G>T, XM_006718860.5:c.*1904C>A, XM_006718860.4:c.*1904C>A, XM_006718860.3:c.*1904C>A, XM_006718860.1:c.*1904C>A, XM_005271593.3:c.661C>A, XM_005271593.2:c.661C>A, XM_005271593.1:c.661C>A, NM_006235.3:c.520C>A, NM_006235.2:c.520C>A, XM_017017932.2:c.*1904C>A, XM_017017932.1:c.*1904C>A, XM_006718859.2:c.580C>A, XM_006718859.1:c.580C>A, XM_047427137.1:c.313C>A, XP_005271650.1:p.Leu221Ile, NP_006226.2:p.Leu174Ile, XP_006718922.1:p.Leu194Ile, XP_047283093.1:p.Leu105Ile

Select item 14718879405.

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 14651957506.

rs1465195750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111354330 (GRCh38)
11:111225055 (GRCh37)
Canonical SPDI:: NC_000011.10:111354329:C:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111354330C>T, NC_000011.9:g.111225055C>T, XM_006718860.5:c.*2086G>A, XM_006718860.4:c.*2086G>A, XM_006718860.3:c.*2086G>A, XM_005271593.3:c.843G>A, XM_005271593.2:c.843G>A, XM_005271593.1:c.843G>A, NM_006235.3:c.702G>A, NM_006235.2:c.702G>A, XM_017017932.2:c.*2086G>A, XM_017017932.1:c.*2086G>A, XM_006718859.2:c.762G>A, XM_006718859.1:c.762G>A, XM_047427137.1:c.495G>A

Select item 14643041497.

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 14618259918.

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 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 144980942610.

rs1449809426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111354276 (GRCh38)
11:111225001 (GRCh37)
Canonical SPDI:: NC_000011.10:111354275:A:G
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111354276A>G, NC_000011.9:g.111225001A>G, XM_006718860.5:c.*2140T>C, XM_006718860.4:c.*2140T>C, XM_006718860.3:c.*2140T>C, XM_005271593.3:c.897T>C, XM_005271593.2:c.897T>C, XM_005271593.1:c.897T>C, NM_006235.3:c.756T>C, NM_006235.2:c.756T>C, XM_017017932.2:c.*2140T>C, XM_017017932.1:c.*2140T>C, XM_006718859.2:c.816T>C, XM_006718859.1:c.816T>C, XM_047427137.1:c.549T>C

Select item 144876663411.

rs1448766634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:111354439 (GRCh38)
11:111225164 (GRCh37)
Canonical SPDI:: NC_000011.10:111354438:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_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_000011.10:g.111354439G>T, NC_000011.9:g.111225164G>T, XM_006718860.5:c.*1977C>A, XM_006718860.4:c.*1977C>A, XM_006718860.3:c.*1977C>A, XM_005271593.3:c.734C>A, XM_005271593.2:c.734C>A, XM_005271593.1:c.734C>A, NM_006235.3:c.593C>A, NM_006235.2:c.593C>A, XM_017017932.2:c.*1977C>A, XM_017017932.1:c.*1977C>A, XM_006718859.2:c.653C>A, XM_006718859.1:c.653C>A, XM_047427137.1:c.386C>A, XP_005271650.1:p.Pro245Gln, NP_006226.2:p.Pro198Gln, XP_006718922.1:p.Pro218Gln, XP_047283093.1:p.Pro129Gln

Select item 144796884112.

rs1447968841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111354567 (GRCh38)
11:111225292 (GRCh37)
Canonical SPDI:: NC_000011.10:111354566:G:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.111354567G>A, NC_000011.9:g.111225292G>A, XM_006718860.5:c.*1849C>T, XM_006718860.4:c.*1849C>T, XM_006718860.3:c.*1849C>T, XM_006718860.1:c.*1849C>T, XM_005271593.3:c.606C>T, XM_005271593.2:c.606C>T, XM_005271593.1:c.606C>T, NM_006235.3:c.465C>T, NM_006235.2:c.465C>T, XM_017017932.2:c.*1849C>T, XM_017017932.1:c.*1849C>T, XM_006718859.2:c.525C>T, XM_006718859.1:c.525C>T, XM_047427137.1:c.258C>T

Select item 144757524913.

rs1447575249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:111354453 (GRCh38)
11:111225178 (GRCh37)
Canonical SPDI:: NC_000011.10:111354452:G:A,NC_000011.10:111354452:G:T
Gene:: POU2AF1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111354453G>A, NC_000011.10:g.111354453G>T, NC_000011.9:g.111225178G>A, NC_000011.9:g.111225178G>T, XM_006718860.5:c.*1963C>T, XM_006718860.5:c.*1963C>A, XM_006718860.4:c.*1963C>T, XM_006718860.4:c.*1963C>A, XM_006718860.3:c.*1963C>T, XM_006718860.3:c.*1963C>A, XM_005271593.3:c.720C>T, XM_005271593.3:c.720C>A, XM_005271593.2:c.720C>T, XM_005271593.2:c.720C>A, XM_005271593.1:c.720C>T, XM_005271593.1:c.720C>A, NM_006235.3:c.579C>T, NM_006235.3:c.579C>A, NM_006235.2:c.579C>T, NM_006235.2:c.579C>A, XM_017017932.2:c.*1963C>T, XM_017017932.2:c.*1963C>A, XM_017017932.1:c.*1963C>T, XM_017017932.1:c.*1963C>A, XM_006718859.2:c.639C>T, XM_006718859.2:c.639C>A, XM_006718859.1:c.639C>T, XM_006718859.1:c.639C>A, XM_047427137.1:c.372C>T, XM_047427137.1:c.372C>A, XP_005271650.1:p.Tyr240Ter, NP_006226.2:p.Tyr193Ter, XP_006718922.1:p.Tyr213Ter, XP_047283093.1:p.Tyr124Ter

Select item 144730072414.

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 143743232415.

rs1437432324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111354494 (GRCh38)
11:111225219 (GRCh37)
Canonical SPDI:: NC_000011.10:111354493:G:A
Gene:: POU2AF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111354494G>A, NC_000011.9:g.111225219G>A, XM_006718860.5:c.*1922C>T, XM_006718860.4:c.*1922C>T, XM_006718860.3:c.*1922C>T, XM_006718860.1:c.*1922C>T, XM_005271593.3:c.679C>T, XM_005271593.2:c.679C>T, XM_005271593.1:c.679C>T, NM_006235.3:c.538C>T, NM_006235.2:c.538C>T, XM_017017932.2:c.*1922C>T, XM_017017932.1:c.*1922C>T, XM_006718859.2:c.598C>T, XM_006718859.1:c.598C>T, XM_047427137.1:c.331C>T, XP_005271650.1:p.Pro227Ser, NP_006226.2:p.Pro180Ser, XP_006718922.1:p.Pro200Ser, XP_047283093.1:p.Pro111Ser

Select item 143498099416.

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 143129399717.

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 142763473918.

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 142751538019.

rs1427515380 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:111354550 (GRCh38)
11:111225276 (GRCh37)
Canonical SPDI:: NC_000011.10:111354550:C:CC
Gene:: POU2AF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111354551dup, NC_000011.9:g.111225276dup, XM_006718860.5:c.*1865dup, XM_006718860.4:c.*1865dup, XM_006718860.3:c.*1865dup, XM_006718860.1:c.*1865dup, XM_005271593.3:c.622dup, XM_005271593.2:c.622dup, XM_005271593.1:c.622dup, NM_006235.3:c.481dup, NM_006235.2:c.481dup, XM_017017932.2:c.*1865dup, XM_017017932.1:c.*1865dup, XM_006718859.2:c.541dup, XM_006718859.1:c.541dup, XM_047427137.1:c.274dup, XP_005271650.1:p.Val208fs, NP_006226.2:p.Val161fs, XP_006718922.1:p.Val181fs, XP_047283093.1:p.Val92fs

Select item 142395037920.

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

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