SNP Links for Protein (Select 223468676) - SNP

Select item 14905739631.

rs1490573963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65654703 (GRCh38)
11:65422174 (GRCh37)
Canonical SPDI:: NC_000011.10:65654702:T:C
Gene:: RELA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65654703T>C, NC_000011.9:g.65422174T>C, NG_029971.1:g.13270A>G, NM_021975.4:c.1331A>G, NM_021975.3:c.1331A>G, NM_001145138.2:c.1322A>G, NM_001145138.1:c.1322A>G, NM_001243984.2:c.1124A>G, NM_001243984.1:c.1124A>G, NM_001404662.1:c.1238A>G, NM_001404663.1:c.1238A>G, NM_001404657.1:c.1364A>G, NM_001404658.1:c.1304A>G, NM_001404661.1:c.950A>G, NM_001404659.1:c.1118A>G, NM_001404660.1:c.1013A>G, XM_011545206.3:c.1118A>G, XM_011545207.3:c.1013A>G, XM_047427392.1:c.1238A>G, NP_068810.3:p.Gln444Arg, NP_001138610.1:p.Gln441Arg, NP_001230913.1:p.Gln375Arg, XP_011543508.1:p.Gln373Arg, XP_011543509.1:p.Gln338Arg, XP_047283348.1:p.Gln413Arg

Select item 14880680462.

rs1488068046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65661699 (GRCh38)
11:65429170 (GRCh37)
Canonical SPDI:: NC_000011.10:65661698:C:T
Gene:: RELA (Varview), RELA-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65661699C>T, NC_000011.9:g.65429170C>T, NG_029971.1:g.6274G>A, NM_021975.4:c.323G>A, NM_021975.3:c.323G>A, NM_001145138.2:c.323G>A, NM_001145138.1:c.323G>A, NM_001243984.2:c.323G>A, NM_001243984.1:c.323G>A, NM_001243985.2:c.323G>A, NM_001243985.1:c.323G>A, NM_001404662.1:c.230G>A, NM_001404663.1:c.230G>A, NM_001404657.1:c.356G>A, NM_001404658.1:c.296G>A, NM_001404661.1:c.34G>A, NM_001404659.1:c.323G>A, NM_001404660.1:c.323G>A, XM_011545206.3:c.323G>A, XM_011545207.3:c.323G>A, XM_047427392.1:c.230G>A, NP_068810.3:p.Arg108His, NP_001138610.1:p.Arg108His, NP_001230913.1:p.Arg108His, NP_001230914.1:p.Arg108His, XP_011543508.1:p.Arg108His, XP_011543509.1:p.Arg108His, XP_047283348.1:p.Arg77His

Select item 14875261713.

rs1487526171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65658402 (GRCh38)
11:65425873 (GRCh37)
Canonical SPDI:: NC_000011.10:65658401:G:A,NC_000011.10:65658401:G:C
Gene:: RELA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65658402G>A, NC_000011.10:g.65658402G>C, NC_000011.9:g.65425873G>A, NC_000011.9:g.65425873G>C, NG_029971.1:g.9571C>T, NG_029971.1:g.9571C>G, NM_021975.4:c.762C>T, NM_021975.4:c.762C>G, NM_021975.3:c.762C>T, NM_021975.3:c.762C>G, NM_001145138.2:c.753C>T, NM_001145138.2:c.753C>G, NM_001145138.1:c.753C>T, NM_001145138.1:c.753C>G, NM_001243984.2:c.762C>T, NM_001243984.2:c.762C>G, NM_001243984.1:c.762C>T, NM_001243984.1:c.762C>G, NM_001243985.2:c.762C>T, NM_001243985.2:c.762C>G, NM_001243985.1:c.762C>T, NM_001243985.1:c.762C>G, NM_001404662.1:c.669C>T, NM_001404662.1:c.669C>G, NM_001404663.1:c.669C>T, NM_001404663.1:c.669C>G, NM_001404657.1:c.795C>T, NM_001404657.1:c.795C>G, NM_001404658.1:c.735C>T, NM_001404658.1:c.735C>G, NM_001404661.1:c.381C>T, NM_001404661.1:c.381C>G, XM_047427392.1:c.669C>T, XM_047427392.1:c.669C>G

Select item 14857287984.

rs1485728798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:65654696 (GRCh38)
11:65422167 (GRCh37)
Canonical SPDI:: NC_000011.10:65654695:A:T
Gene:: RELA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65654696A>T, NC_000011.9:g.65422167A>T, NG_029971.1:g.13277T>A, NM_021975.4:c.1338T>A, NM_021975.3:c.1338T>A, NM_001145138.2:c.1329T>A, NM_001145138.1:c.1329T>A, NM_001243984.2:c.1131T>A, NM_001243984.1:c.1131T>A, NM_001404662.1:c.1245T>A, NM_001404663.1:c.1245T>A, NM_001404657.1:c.1371T>A, NM_001404658.1:c.1311T>A, NM_001404661.1:c.957T>A, NM_001404659.1:c.1125T>A, NM_001404660.1:c.1020T>A, XM_011545206.3:c.1125T>A, XM_011545207.3:c.1020T>A, XM_047427392.1:c.1245T>A, NP_068810.3:p.Asp446Glu, NP_001138610.1:p.Asp443Glu, NP_001230913.1:p.Asp377Glu, XP_011543508.1:p.Asp375Glu, XP_011543509.1:p.Asp340Glu, XP_047283348.1:p.Asp415Glu

Select item 14852457025.

rs1485245702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65654907 (GRCh38)
11:65422378 (GRCh37)
Canonical SPDI:: NC_000011.10:65654906:G:A,NC_000011.10:65654906:G:T
Gene:: RELA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.65654907G>A, NC_000011.10:g.65654907G>T, NC_000011.9:g.65422378G>A, NC_000011.9:g.65422378G>T, NG_029971.1:g.13066C>T, NG_029971.1:g.13066C>A, NM_021975.4:c.1127C>T, NM_021975.4:c.1127C>A, NM_021975.3:c.1127C>T, NM_021975.3:c.1127C>A, NM_001145138.2:c.1118C>T, NM_001145138.2:c.1118C>A, NM_001145138.1:c.1118C>T, NM_001145138.1:c.1118C>A, NM_001243985.2:c.1127C>T, NM_001243985.2:c.1127C>A, NM_001243985.1:c.1127C>T, NM_001243985.1:c.1127C>A, NM_001404662.1:c.1034C>T, NM_001404662.1:c.1034C>A, NM_001404663.1:c.1034C>T, NM_001404663.1:c.1034C>A, NM_001404657.1:c.1160C>T, NM_001404657.1:c.1160C>A, NM_001404658.1:c.1100C>T, NM_001404658.1:c.1100C>A, NM_001404661.1:c.746C>T, NM_001404661.1:c.746C>A, NM_001404659.1:c.914C>T, NM_001404659.1:c.914C>A, NM_001404660.1:c.809C>T, NM_001404660.1:c.809C>A, XM_011545206.3:c.914C>T, XM_011545206.3:c.914C>A, XM_011545207.3:c.809C>T, XM_011545207.3:c.809C>A, XM_047427392.1:c.1034C>T, XM_047427392.1:c.1034C>A, NP_068810.3:p.Ala376Val, NP_068810.3:p.Ala376Asp, NP_001138610.1:p.Ala373Val, NP_001138610.1:p.Ala373Asp, NP_001230914.1:p.Ala376Val, NP_001230914.1:p.Ala376Asp, XP_011543508.1:p.Ala305Val, XP_011543508.1:p.Ala305Asp, XP_011543509.1:p.Ala270Val, XP_011543509.1:p.Ala270Asp, XP_047283348.1:p.Ala345Val, XP_047283348.1:p.Ala345Asp

Select item 14848486256.

rs1484848625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65661781 (GRCh38)
11:65429252 (GRCh37)
Canonical SPDI:: NC_000011.10:65661780:G:A
Gene:: RELA (Varview), RELA-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000032/8 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65661781G>A, NC_000011.9:g.65429252G>A, NG_029971.1:g.6192C>T, NM_021975.4:c.241C>T, NM_021975.3:c.241C>T, NM_001145138.2:c.241C>T, NM_001145138.1:c.241C>T, NM_001243984.2:c.241C>T, NM_001243984.1:c.241C>T, NM_001243985.2:c.241C>T, NM_001243985.1:c.241C>T, NM_001404662.1:c.148C>T, NM_001404663.1:c.148C>T, NM_001404657.1:c.274C>T, NM_001404658.1:c.214C>T, NM_001404661.1:c.-49C>T, NM_001404659.1:c.241C>T, NM_001404660.1:c.241C>T, XM_011545206.3:c.241C>T, XM_011545207.3:c.241C>T, XM_047427392.1:c.148C>T, NP_068810.3:p.Pro81Ser, NP_001138610.1:p.Pro81Ser, NP_001230913.1:p.Pro81Ser, NP_001230914.1:p.Pro81Ser, XP_011543508.1:p.Pro81Ser, XP_011543509.1:p.Pro81Ser, XP_047283348.1:p.Pro50Ser

Select item 14841504557.

rs1484150455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65655721 (GRCh38)
11:65423192 (GRCh37)
Canonical SPDI:: NC_000011.10:65655720:G:A
Gene:: RELA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65655721G>A, NC_000011.9:g.65423192G>A, NG_029971.1:g.12252C>T, NM_021975.4:c.1000C>T, NM_021975.3:c.1000C>T, NM_001145138.2:c.991C>T, NM_001145138.1:c.991C>T, NM_001243984.2:c.1000C>T, NM_001243984.1:c.1000C>T, NM_001243985.2:c.1000C>T, NM_001243985.1:c.1000C>T, NM_001404662.1:c.907C>T, NM_001404663.1:c.907C>T, NM_001404657.1:c.1033C>T, NM_001404658.1:c.973C>T, NM_001404661.1:c.619C>T, NM_001404659.1:c.787C>T, NM_001404660.1:c.682C>T, XM_011545206.3:c.787C>T, XM_011545207.3:c.682C>T, XM_047427392.1:c.907C>T, NP_068810.3:p.Pro334Ser, NP_001138610.1:p.Pro331Ser, NP_001230913.1:p.Pro334Ser, NP_001230914.1:p.Pro334Ser, XP_011543508.1:p.Pro263Ser, XP_011543509.1:p.Pro228Ser, XP_047283348.1:p.Pro303Ser

Select item 14835337908.

rs1483533790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65654902 (GRCh38)
11:65422373 (GRCh37)
Canonical SPDI:: NC_000011.10:65654901:C:T
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.65654902C>T, NC_000011.9:g.65422373C>T, NG_029971.1:g.13071G>A, NM_021975.4:c.1132G>A, NM_021975.3:c.1132G>A, NM_001145138.2:c.1123G>A, NM_001145138.1:c.1123G>A, NM_001243985.2:c.1132G>A, NM_001243985.1:c.1132G>A, NM_001404662.1:c.1039G>A, NM_001404663.1:c.1039G>A, NM_001404657.1:c.1165G>A, NM_001404658.1:c.1105G>A, NM_001404661.1:c.751G>A, NM_001404659.1:c.919G>A, NM_001404660.1:c.814G>A, XM_011545206.3:c.919G>A, XM_011545207.3:c.814G>A, XM_047427392.1:c.1039G>A, NP_068810.3:p.Ala378Thr, NP_001138610.1:p.Ala375Thr, NP_001230914.1:p.Ala378Thr, XP_011543508.1:p.Ala307Thr, XP_011543509.1:p.Ala272Thr, XP_047283348.1:p.Ala347Thr

Select item 14818681079.

rs1481868107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65654980 (GRCh38)
11:65422451 (GRCh37)
Canonical SPDI:: NC_000011.10:65654979:T:C
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.65654980T>C, NC_000011.9:g.65422451T>C, NG_029971.1:g.12993A>G, NM_021975.4:c.1054A>G, NM_021975.3:c.1054A>G, NM_001145138.2:c.1045A>G, NM_001145138.1:c.1045A>G, NM_001243985.2:c.1054A>G, NM_001243985.1:c.1054A>G, NM_001404662.1:c.961A>G, NM_001404663.1:c.961A>G, NM_001404657.1:c.1087A>G, NM_001404658.1:c.1027A>G, NM_001404661.1:c.673A>G, NM_001404659.1:c.841A>G, NM_001404660.1:c.736A>G, XM_011545206.3:c.841A>G, XM_011545207.3:c.736A>G, XM_047427392.1:c.961A>G, NP_068810.3:p.Thr352Ala, NP_001138610.1:p.Thr349Ala, NP_001230914.1:p.Thr352Ala, XP_011543508.1:p.Thr281Ala, XP_011543509.1:p.Thr246Ala, XP_047283348.1:p.Thr321Ala

Select item 148090746910.

rs1480907469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65661786 (GRCh38)
11:65429257 (GRCh37)
Canonical SPDI:: NC_000011.10:65661785:T:C
Gene:: RELA (Varview), RELA-DT (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65661786T>C, NC_000011.9:g.65429257T>C, NG_029971.1:g.6187A>G, NM_021975.4:c.236A>G, NM_021975.3:c.236A>G, NM_001145138.2:c.236A>G, NM_001145138.1:c.236A>G, NM_001243984.2:c.236A>G, NM_001243984.1:c.236A>G, NM_001243985.2:c.236A>G, NM_001243985.1:c.236A>G, NM_001404662.1:c.143A>G, NM_001404663.1:c.143A>G, NM_001404657.1:c.269A>G, NM_001404658.1:c.209A>G, NM_001404661.1:c.-54A>G, NM_001404659.1:c.236A>G, NM_001404660.1:c.236A>G, XM_011545206.3:c.236A>G, XM_011545207.3:c.236A>G, XM_047427392.1:c.143A>G, NP_068810.3:p.Lys79Arg, NP_001138610.1:p.Lys79Arg, NP_001230913.1:p.Lys79Arg, NP_001230914.1:p.Lys79Arg, XP_011543508.1:p.Lys79Arg, XP_011543509.1:p.Lys79Arg, XP_047283348.1:p.Lys48Arg

Select item 147837415411.

rs1478374154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65655733 (GRCh38)
11:65423204 (GRCh37)
Canonical SPDI:: NC_000011.10:65655732:G:A
Gene:: RELA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65655733G>A, NC_000011.9:g.65423204G>A, NG_029971.1:g.12240C>T, NM_021975.4:c.988C>T, NM_021975.3:c.988C>T, NM_001145138.2:c.979C>T, NM_001145138.1:c.979C>T, NM_001243984.2:c.988C>T, NM_001243984.1:c.988C>T, NM_001243985.2:c.988C>T, NM_001243985.1:c.988C>T, NM_001404662.1:c.895C>T, NM_001404663.1:c.895C>T, NM_001404657.1:c.1021C>T, NM_001404658.1:c.961C>T, NM_001404661.1:c.607C>T, NM_001404659.1:c.775C>T, NM_001404660.1:c.670C>T, XM_011545206.3:c.775C>T, XM_011545207.3:c.670C>T, XM_047427392.1:c.895C>T, NP_068810.3:p.Arg330Cys, NP_001138610.1:p.Arg327Cys, NP_001230913.1:p.Arg330Cys, NP_001230914.1:p.Arg330Cys, XP_011543508.1:p.Arg259Cys, XP_011543509.1:p.Arg224Cys, XP_047283348.1:p.Arg299Cys

Select item 147776578212.

rs1477765782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:65654709 (GRCh38)
11:65422180 (GRCh37)
Canonical SPDI:: NC_000011.10:65654708:T:A,NC_000011.10:65654708:T:G
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000014/1 (ExAC)
G=0.000015/4 (TOPMED)
G=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65654709T>A, NC_000011.10:g.65654709T>G, NC_000011.9:g.65422180T>A, NC_000011.9:g.65422180T>G, NG_029971.1:g.13264A>T, NG_029971.1:g.13264A>C, NM_021975.4:c.1325A>T, NM_021975.4:c.1325A>C, NM_021975.3:c.1325A>T, NM_021975.3:c.1325A>C, NM_001145138.2:c.1316A>T, NM_001145138.2:c.1316A>C, NM_001145138.1:c.1316A>T, NM_001145138.1:c.1316A>C, NM_001243984.2:c.1118A>T, NM_001243984.2:c.1118A>C, NM_001243984.1:c.1118A>T, NM_001243984.1:c.1118A>C, NM_001404662.1:c.1232A>T, NM_001404662.1:c.1232A>C, NM_001404663.1:c.1232A>T, NM_001404663.1:c.1232A>C, NM_001404657.1:c.1358A>T, NM_001404657.1:c.1358A>C, NM_001404658.1:c.1298A>T, NM_001404658.1:c.1298A>C, NM_001404661.1:c.944A>T, NM_001404661.1:c.944A>C, NM_001404659.1:c.1112A>T, NM_001404659.1:c.1112A>C, NM_001404660.1:c.1007A>T, NM_001404660.1:c.1007A>C, XM_011545206.3:c.1112A>T, XM_011545206.3:c.1112A>C, XM_011545207.3:c.1007A>T, XM_011545207.3:c.1007A>C, XM_047427392.1:c.1232A>T, XM_047427392.1:c.1232A>C, NP_068810.3:p.Gln442Leu, NP_068810.3:p.Gln442Pro, NP_001138610.1:p.Gln439Leu, NP_001138610.1:p.Gln439Pro, NP_001230913.1:p.Gln373Leu, NP_001230913.1:p.Gln373Pro, XP_011543508.1:p.Gln371Leu, XP_011543508.1:p.Gln371Pro, XP_011543509.1:p.Gln336Leu, XP_011543509.1:p.Gln336Pro, XP_047283348.1:p.Gln411Leu, XP_047283348.1:p.Gln411Pro

Select item 147536516113.

rs1475365161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65659683 (GRCh38)
11:65427154 (GRCh37)
Canonical SPDI:: NC_000011.10:65659682:T:C
Gene:: RELA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65659683T>C, NC_000011.9:g.65427154T>C, NG_029971.1:g.8290A>G, NM_021975.4:c.542A>G, NM_021975.3:c.542A>G, NM_001145138.2:c.533A>G, NM_001145138.1:c.533A>G, NM_001243984.2:c.542A>G, NM_001243984.1:c.542A>G, NM_001243985.2:c.542A>G, NM_001243985.1:c.542A>G, NM_001404662.1:c.449A>G, NM_001404663.1:c.449A>G, NM_001404657.1:c.575A>G, NM_001404658.1:c.515A>G, NM_001404661.1:c.161A>G, NM_001404659.1:c.542A>G, NM_001404660.1:c.542A>G, XM_011545206.3:c.542A>G, XM_011545207.3:c.542A>G, XM_047427392.1:c.449A>G, NP_068810.3:p.His181Arg, NP_001138610.1:p.His178Arg, NP_001230913.1:p.His181Arg, NP_001230914.1:p.His181Arg, XP_011543508.1:p.His181Arg, XP_011543509.1:p.His181Arg, XP_047283348.1:p.His150Arg

Select item 147435494214.

rs1474354942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65658433 (GRCh38)
11:65425904 (GRCh37)
Canonical SPDI:: NC_000011.10:65658432:A:C
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65658433A>C, NC_000011.9:g.65425904A>C, NG_029971.1:g.9540T>G, NM_021975.4:c.731T>G, NM_021975.3:c.731T>G, NM_001145138.2:c.722T>G, NM_001145138.1:c.722T>G, NM_001243984.2:c.731T>G, NM_001243984.1:c.731T>G, NM_001243985.2:c.731T>G, NM_001243985.1:c.731T>G, NM_001404662.1:c.638T>G, NM_001404663.1:c.638T>G, NM_001404657.1:c.764T>G, NM_001404658.1:c.704T>G, NM_001404661.1:c.350T>G, XM_047427392.1:c.638T>G, NP_068810.3:p.Val244Gly, NP_001138610.1:p.Val241Gly, NP_001230913.1:p.Val244Gly, NP_001230914.1:p.Val244Gly, XP_047283348.1:p.Val213Gly

Select item 147368531815.

rs1473685318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65654531 (GRCh38)
11:65422002 (GRCh37)
Canonical SPDI:: NC_000011.10:65654530:A:G
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65654531A>G, NC_000011.9:g.65422002A>G, NG_029971.1:g.13442T>C, NM_021975.4:c.1503T>C, NM_021975.3:c.1503T>C, NM_001145138.2:c.1494T>C, NM_001145138.1:c.1494T>C, NM_001243984.2:c.1296T>C, NM_001243984.1:c.1296T>C, NM_001404662.1:c.1410T>C, NM_001404663.1:c.1410T>C, NM_001404657.1:c.1536T>C, NM_001404658.1:c.1476T>C, NM_001404661.1:c.1122T>C, NM_001404659.1:c.1290T>C, NM_001404660.1:c.1185T>C, XM_011545206.3:c.1290T>C, XM_011545207.3:c.1185T>C, XM_047427392.1:c.1410T>C

Select item 147279837716.

rs1472798377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65662067 (GRCh38)
11:65429538 (GRCh37)
Canonical SPDI:: NC_000011.10:65662066:G:A
Gene:: RELA (Varview), RELA-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000011.10:g.65662067G>A, NC_000011.9:g.65429538G>A, NG_029971.1:g.5906C>T, NM_021975.4:c.56C>T, NM_021975.3:c.56C>T, NM_001145138.2:c.56C>T, NM_001145138.1:c.56C>T, NM_001243984.2:c.56C>T, NM_001243984.1:c.56C>T, NM_001243985.2:c.56C>T, NM_001243985.1:c.56C>T, NM_001404662.1:c.-38C>T, NM_001404663.1:c.-38C>T, NM_001404657.1:c.56C>T, NM_001404658.1:c.29C>T, NM_001404661.1:c.-234C>T, NM_001404659.1:c.56C>T, NM_001404660.1:c.56C>T, XM_011545206.3:c.56C>T, XM_011545207.3:c.56C>T, XM_047427392.1:c.-38C>T, NP_068810.3:p.Pro19Leu, NP_001138610.1:p.Pro19Leu, NP_001230913.1:p.Pro19Leu, NP_001230914.1:p.Pro19Leu, XP_011543508.1:p.Pro19Leu, XP_011543509.1:p.Pro19Leu

Select item 147225379017.

rs1472253790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65654867 (GRCh38)
11:65422338 (GRCh37)
Canonical SPDI:: NC_000011.10:65654866:C:T
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65654867C>T, NC_000011.9:g.65422338C>T, NG_029971.1:g.13106G>A, NM_021975.4:c.1167G>A, NM_021975.3:c.1167G>A, NM_001145138.2:c.1158G>A, NM_001145138.1:c.1158G>A, NM_001243985.2:c.1167G>A, NM_001243985.1:c.1167G>A, NM_001404662.1:c.1074G>A, NM_001404663.1:c.1074G>A, NM_001404657.1:c.1200G>A, NM_001404658.1:c.1140G>A, NM_001404661.1:c.786G>A, NM_001404659.1:c.954G>A, NM_001404660.1:c.849G>A, XM_011545206.3:c.954G>A, XM_011545207.3:c.849G>A, XM_047427392.1:c.1074G>A

Select item 147210235218.

rs1472102352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65654528 (GRCh38)
11:65421999 (GRCh37)
Canonical SPDI:: NC_000011.10:65654527:G:A
Gene:: RELA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65654528G>A, NC_000011.9:g.65421999G>A, NG_029971.1:g.13445C>T, NM_021975.4:c.1506C>T, NM_021975.3:c.1506C>T, NM_001145138.2:c.1497C>T, NM_001145138.1:c.1497C>T, NM_001243984.2:c.1299C>T, NM_001243984.1:c.1299C>T, NM_001404662.1:c.1413C>T, NM_001404663.1:c.1413C>T, NM_001404657.1:c.1539C>T, NM_001404658.1:c.1479C>T, NM_001404661.1:c.1125C>T, NM_001404659.1:c.1293C>T, NM_001404660.1:c.1188C>T, XM_011545206.3:c.1293C>T, XM_011545207.3:c.1188C>T, XM_047427392.1:c.1413C>T

Select item 146981693819.

rs1469816938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65661958 (GRCh38)
11:65429429 (GRCh37)
Canonical SPDI:: NC_000011.10:65661957:G:A
Gene:: RELA (Varview), RELA-DT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.65661958G>A, NC_000011.9:g.65429429G>A, NG_029971.1:g.6015C>T, NM_021975.4:c.165C>T, NM_021975.3:c.165C>T, NM_001145138.2:c.165C>T, NM_001145138.1:c.165C>T, NM_001243984.2:c.165C>T, NM_001243984.1:c.165C>T, NM_001243985.2:c.165C>T, NM_001243985.1:c.165C>T, NM_001404662.1:c.72C>T, NM_001404663.1:c.72C>T, NM_001404657.1:c.165C>T, NM_001404658.1:c.138C>T, NM_001404661.1:c.-125C>T, NM_001404659.1:c.165C>T, NM_001404660.1:c.165C>T, XM_011545206.3:c.165C>T, XM_011545207.3:c.165C>T, XM_047427392.1:c.72C>T

Select item 146910421620.

rs1469104216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65659785 (GRCh38)
11:65427256 (GRCh37)
Canonical SPDI:: NC_000011.10:65659784:T:C
Gene:: RELA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65659785T>C, NC_000011.9:g.65427256T>C, NG_029971.1:g.8188A>G, NM_021975.4:c.440A>G, NM_021975.3:c.440A>G, NM_001145138.2:c.431A>G, NM_001145138.1:c.431A>G, NM_001243984.2:c.440A>G, NM_001243984.1:c.440A>G, NM_001243985.2:c.440A>G, NM_001243985.1:c.440A>G, NM_001404662.1:c.347A>G, NM_001404663.1:c.347A>G, NM_001404657.1:c.473A>G, NM_001404658.1:c.413A>G, NM_001404661.1:c.59A>G, NM_001404659.1:c.440A>G, NM_001404660.1:c.440A>G, XM_011545206.3:c.440A>G, XM_011545207.3:c.440A>G, XM_047427392.1:c.347A>G, NP_068810.3:p.Glu147Gly, NP_001138610.1:p.Glu144Gly, NP_001230913.1:p.Glu147Gly, NP_001230914.1:p.Glu147Gly, XP_011543508.1:p.Glu147Gly, XP_011543509.1:p.Glu147Gly, XP_047283348.1:p.Glu116Gly

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Clinical Significance

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Items: 1 to 20 of 505

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