SNP Links for Protein (Select 4885615) - SNP

Links from Protein

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Select item 14908181781.

rs1490818178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56346935 (GRCh38)
12:56740719 (GRCh37)
Canonical SPDI:: NC_000012.12:56346934:C:T
Gene:: STAT2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56346935C>T, NC_000012.11:g.56740719C>T, NG_046314.1:g.18319G>A, NM_005419.4:c.1745G>A, NM_005419.3:c.1745G>A, NM_198332.2:c.1733G>A, NM_198332.1:c.1733G>A, NM_001385113.1:c.1745G>A, NM_001385114.1:c.1724G>A, NM_001385110.1:c.1712G>A, NM_001385115.1:c.1703G>A, NM_001385111.1:c.1646G>A, XM_011538698.4:c.1757G>A, XM_011538698.3:c.1757G>A, XM_011538698.2:c.1757G>A, XM_011538698.1:c.1757G>A, XM_011538697.3:c.1769G>A, XM_011538697.2:c.1769G>A, XM_011538697.1:c.1769G>A, XM_047429469.1:c.800G>A, NP_005410.1:p.Ser582Asn, NP_938146.1:p.Ser578Asn, NP_001372042.1:p.Ser582Asn, NP_001372043.1:p.Ser575Asn, NP_001372039.1:p.Ser571Asn, NP_001372044.1:p.Ser568Asn, NP_001372040.1:p.Ser549Asn, XP_011537000.1:p.Ser586Asn, XP_011536999.1:p.Ser590Asn, XP_047285425.1:p.Ser267Asn

Select item 14904945692.

rs1490494569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56346167 (GRCh38)
12:56739951 (GRCh37)
Canonical SPDI:: NC_000012.12:56346166:C:T
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.56346167C>T, NC_000012.11:g.56739951C>T, NG_046314.1:g.19087G>A, NM_005419.4:c.2081G>A, NM_005419.3:c.2081G>A, NM_198332.2:c.2069G>A, NM_198332.1:c.2069G>A, NM_001385113.1:c.2081G>A, NM_001385114.1:c.2060G>A, NM_001385110.1:c.2048G>A, NM_001385115.1:c.2039G>A, NM_001385111.1:c.1982G>A, XM_011538698.4:c.2093G>A, XM_011538698.3:c.2093G>A, XM_011538698.2:c.2093G>A, XM_011538698.1:c.2093G>A, XM_011538697.3:c.2105G>A, XM_011538697.2:c.2105G>A, XM_011538697.1:c.2105G>A, XM_047429469.1:c.1136G>A, NP_005410.1:p.Arg694Lys, NP_938146.1:p.Arg690Lys, NP_001372042.1:p.Arg694Lys, NP_001372043.1:p.Arg687Lys, NP_001372039.1:p.Arg683Lys, NP_001372044.1:p.Arg680Lys, NP_001372040.1:p.Arg661Lys, XP_011537000.1:p.Arg698Lys, XP_011536999.1:p.Arg702Lys, XP_047285425.1:p.Arg379Lys

Select item 14877406633.

rs1487740663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56351360 (GRCh38)
12:56745144 (GRCh37)
Canonical SPDI:: NC_000012.12:56351359:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56351360G>A, NC_000012.11:g.56745144G>A, NG_046314.1:g.13894C>T, NM_005419.4:c.873C>T, NM_005419.3:c.873C>T, NM_198332.2:c.861C>T, NM_198332.1:c.861C>T, NM_001385113.1:c.873C>T, NM_001385114.1:c.873C>T, NM_001385110.1:c.861C>T, NM_001385115.1:c.861C>T, NM_001385111.1:c.873C>T, XM_011538698.4:c.861C>T, XM_011538698.3:c.861C>T, XM_011538698.2:c.861C>T, XM_011538698.1:c.861C>T, XM_011538699.4:c.873C>T, XM_011538699.3:c.873C>T, XM_011538699.2:c.873C>T, XM_011538699.1:c.873C>T, XR_245953.4:n.930C>T, XR_245953.3:n.984C>T, XR_245953.2:n.1094C>T, XR_245953.1:n.1097C>T, XM_011538697.3:c.873C>T, XM_011538697.2:c.873C>T, XM_011538697.1:c.873C>T, XM_047429468.1:c.873C>T, XR_007063122.1:n.918C>T, XM_047429470.1:c.873C>T, XM_047429472.1:c.873C>T, XM_047429471.1:c.873C>T

Select item 14863211394.

rs1486321139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56343411 (GRCh38)
12:56737195 (GRCh37)
Canonical SPDI:: NC_000012.12:56343410:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.56343411G>A, NC_000012.11:g.56737195G>A, NG_046314.1:g.21843C>T, NM_005419.4:c.2534C>T, NM_005419.3:c.2534C>T, NM_198332.2:c.2522C>T, NM_198332.1:c.2522C>T, NM_001385113.1:c.*103C>T, NM_001385114.1:c.2513C>T, NM_001385110.1:c.2501C>T, NM_001385115.1:c.2492C>T, NM_001385111.1:c.2435C>T, XM_011538698.4:c.2546C>T, XM_011538698.3:c.2546C>T, XM_011538698.2:c.2546C>T, XM_011538698.1:c.2546C>T, XM_011538697.3:c.2558C>T, XM_011538697.2:c.2558C>T, XM_011538697.1:c.2558C>T, XM_047429469.1:c.1589C>T, NP_005410.1:p.Pro845Leu, NP_938146.1:p.Pro841Leu, NP_001372043.1:p.Pro838Leu, NP_001372039.1:p.Pro834Leu, NP_001372044.1:p.Pro831Leu, NP_001372040.1:p.Pro812Leu, XP_011537000.1:p.Pro849Leu, XP_011536999.1:p.Pro853Leu, XP_047285425.1:p.Pro530Leu

Select item 14862527585.

rs1486252758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56351308 (GRCh38)
12:56745092 (GRCh37)
Canonical SPDI:: NC_000012.12:56351307:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56351308G>A, NC_000012.11:g.56745092G>A, NG_046314.1:g.13946C>T, NM_005419.4:c.925C>T, NM_005419.3:c.925C>T, NM_198332.2:c.913C>T, NM_198332.1:c.913C>T, NM_001385113.1:c.925C>T, NM_001385114.1:c.925C>T, NM_001385110.1:c.913C>T, NM_001385115.1:c.913C>T, NM_001385111.1:c.925C>T, XM_011538698.4:c.913C>T, XM_011538698.3:c.913C>T, XM_011538698.2:c.913C>T, XM_011538698.1:c.913C>T, XM_011538699.4:c.925C>T, XM_011538699.3:c.925C>T, XM_011538699.2:c.925C>T, XM_011538699.1:c.925C>T, XR_245953.4:n.982C>T, XR_245953.3:n.1036C>T, XR_245953.2:n.1146C>T, XR_245953.1:n.1149C>T, XM_011538697.3:c.925C>T, XM_011538697.2:c.925C>T, XM_011538697.1:c.925C>T, XM_047429468.1:c.925C>T, XR_007063122.1:n.970C>T, XM_047429470.1:c.925C>T, XM_047429472.1:c.925C>T, XM_047429471.1:c.925C>T, NP_005410.1:p.Gln309Ter, NP_938146.1:p.Gln305Ter, NP_001372042.1:p.Gln309Ter, NP_001372043.1:p.Gln309Ter, NP_001372039.1:p.Gln305Ter, NP_001372044.1:p.Gln305Ter, NP_001372040.1:p.Gln309Ter, XP_011537000.1:p.Gln305Ter, XP_011537001.1:p.Gln309Ter, XP_011536999.1:p.Gln309Ter, XP_047285424.1:p.Gln309Ter, XP_047285426.1:p.Gln309Ter, XP_047285428.1:p.Gln309Ter, XP_047285427.1:p.Gln309Ter

Select item 14860428066.

rs1486042806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56349195 (GRCh38)
12:56742979 (GRCh37)
Canonical SPDI:: NC_000012.12:56349194:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000012.12:g.56349195G>A, NC_000012.11:g.56742979G>A, NG_046314.1:g.16059C>T, NM_005419.4:c.1408C>T, NM_005419.3:c.1408C>T, NM_198332.2:c.1396C>T, NM_198332.1:c.1396C>T, NM_001385113.1:c.1408C>T, NM_001385114.1:c.1387C>T, NM_001385110.1:c.1375C>T, NM_001385115.1:c.1396C>T, XM_011538698.4:c.1396C>T, XM_011538698.3:c.1396C>T, XM_011538698.2:c.1396C>T, XM_011538698.1:c.1396C>T, XM_011538699.4:c.1408C>T, XM_011538699.3:c.1408C>T, XM_011538699.2:c.1408C>T, XM_011538699.1:c.1408C>T, XM_011538697.3:c.1408C>T, XM_011538697.2:c.1408C>T, XM_011538697.1:c.1408C>T, XM_047429469.1:c.439C>T, XM_047429468.1:c.1408C>T, XM_047429472.1:c.*94C>T, NP_005410.1:p.Leu470Phe, NP_938146.1:p.Leu466Phe, NP_001372042.1:p.Leu470Phe, NP_001372043.1:p.Leu463Phe, NP_001372039.1:p.Leu459Phe, NP_001372044.1:p.Leu466Phe, XP_011537000.1:p.Leu466Phe, XP_011537001.1:p.Leu470Phe, XP_011536999.1:p.Leu470Phe, XP_047285425.1:p.Leu147Phe, XP_047285424.1:p.Leu470Phe

Select item 14841616287.

rs1484161628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:56348602 (GRCh38)
12:56742386 (GRCh37)
Canonical SPDI:: NC_000012.12:56348601:A:T
Gene:: STAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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)
HGVS:: NC_000012.12:g.56348602A>T, NC_000012.11:g.56742386A>T, NG_046314.1:g.16652T>A, NM_005419.4:c.1651T>A, NM_005419.3:c.1651T>A, NM_198332.2:c.1639T>A, NM_198332.1:c.1639T>A, NM_001385113.1:c.1651T>A, NM_001385114.1:c.1630T>A, NM_001385110.1:c.1618T>A, NM_001385115.1:c.1609T>A, NM_001385111.1:c.1552T>A, XM_011538698.4:c.1663T>A, XM_011538698.3:c.1663T>A, XM_011538698.2:c.1663T>A, XM_011538698.1:c.1663T>A, XM_011538699.4:c.1675T>A, XM_011538699.3:c.1675T>A, XM_011538699.2:c.1675T>A, XM_011538699.1:c.1675T>A, XR_245953.4:n.1554T>A, XR_245953.3:n.1608T>A, XR_245953.2:n.1718T>A, XR_245953.1:n.1721T>A, XM_011538697.3:c.1675T>A, XM_011538697.2:c.1675T>A, XM_011538697.1:c.1675T>A, XM_047429469.1:c.706T>A, XM_047429468.1:c.1651T>A, XR_007063122.1:n.1542T>A, XM_047429470.1:c.*62T>A, NP_005410.1:p.Leu551Ile, NP_938146.1:p.Leu547Ile, NP_001372042.1:p.Leu551Ile, NP_001372043.1:p.Leu544Ile, NP_001372039.1:p.Leu540Ile, NP_001372044.1:p.Leu537Ile, NP_001372040.1:p.Leu518Ile, XP_011537000.1:p.Leu555Ile, XP_011537001.1:p.Leu559Ile, XP_011536999.1:p.Leu559Ile, XP_047285425.1:p.Leu236Ile, XP_047285424.1:p.Leu551Ile

Select item 14827083148.

rs1482708314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56354487 (GRCh38)
12:56748271 (GRCh37)
Canonical SPDI:: NC_000012.12:56354486:C:T
Gene:: STAT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
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_000012.12:g.56354487C>T, NC_000012.11:g.56748271C>T, NG_046314.1:g.10767G>A, NM_005419.4:c.761G>A, NM_005419.3:c.761G>A, NM_198332.2:c.749G>A, NM_198332.1:c.749G>A, NM_001385113.1:c.761G>A, NM_001385114.1:c.761G>A, NM_001385110.1:c.749G>A, NM_001385115.1:c.749G>A, NM_001385111.1:c.761G>A, XM_011538698.4:c.749G>A, XM_011538698.3:c.749G>A, XM_011538698.2:c.749G>A, XM_011538698.1:c.749G>A, XM_011538699.4:c.761G>A, XM_011538699.3:c.761G>A, XM_011538699.2:c.761G>A, XM_011538699.1:c.761G>A, XR_245953.4:n.818G>A, XR_245953.3:n.872G>A, XR_245953.2:n.982G>A, XR_245953.1:n.985G>A, XM_011538697.3:c.761G>A, XM_011538697.2:c.761G>A, XM_011538697.1:c.761G>A, XM_047429469.1:c.-50G>A, XM_047429468.1:c.761G>A, XR_007063122.1:n.806G>A, XM_047429470.1:c.761G>A, XM_047429472.1:c.761G>A, XM_047429471.1:c.761G>A, NP_005410.1:p.Gly254Glu, NP_938146.1:p.Gly250Glu, NP_001372042.1:p.Gly254Glu, NP_001372043.1:p.Gly254Glu, NP_001372039.1:p.Gly250Glu, NP_001372044.1:p.Gly250Glu, NP_001372040.1:p.Gly254Glu, XP_011537000.1:p.Gly250Glu, XP_011537001.1:p.Gly254Glu, XP_011536999.1:p.Gly254Glu, XP_047285424.1:p.Gly254Glu, XP_047285426.1:p.Gly254Glu, XP_047285428.1:p.Gly254Glu, XP_047285427.1:p.Gly254Glu

Select item 14821663239.

rs1482166323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56351164 (GRCh38)
12:56744948 (GRCh37)
Canonical SPDI:: NC_000012.12:56351163:C:G
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56351164C>G, NC_000012.11:g.56744948C>G, NG_046314.1:g.14090G>C, NM_005419.4:c.968G>C, NM_005419.3:c.968G>C, NM_198332.2:c.956G>C, NM_198332.1:c.956G>C, NM_001385113.1:c.968G>C, NM_001385114.1:c.968G>C, NM_001385110.1:c.956G>C, NM_001385115.1:c.956G>C, NM_001385111.1:c.968G>C, XM_011538698.4:c.956G>C, XM_011538698.3:c.956G>C, XM_011538698.2:c.956G>C, XM_011538698.1:c.956G>C, XM_011538699.4:c.968G>C, XM_011538699.3:c.968G>C, XM_011538699.2:c.968G>C, XM_011538699.1:c.968G>C, XR_245953.4:n.1025G>C, XR_245953.3:n.1079G>C, XR_245953.2:n.1189G>C, XR_245953.1:n.1192G>C, XM_011538697.3:c.968G>C, XM_011538697.2:c.968G>C, XM_011538697.1:c.968G>C, XM_047429469.1:c.-2G>C, XM_047429468.1:c.968G>C, XR_007063122.1:n.1013G>C, XM_047429470.1:c.968G>C, XM_047429472.1:c.968G>C, XM_047429471.1:c.968G>C, NP_005410.1:p.Cys323Ser, NP_938146.1:p.Cys319Ser, NP_001372042.1:p.Cys323Ser, NP_001372043.1:p.Cys323Ser, NP_001372039.1:p.Cys319Ser, NP_001372044.1:p.Cys319Ser, NP_001372040.1:p.Cys323Ser, XP_011537000.1:p.Cys319Ser, XP_011537001.1:p.Cys323Ser, XP_011536999.1:p.Cys323Ser, XP_047285424.1:p.Cys323Ser, XP_047285426.1:p.Cys323Ser, XP_047285428.1:p.Cys323Ser, XP_047285427.1:p.Cys323Ser

Select item 148215527710.

rs1482155277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56354857 (GRCh38)
12:56748641 (GRCh37)
Canonical SPDI:: NC_000012.12:56354856:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_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_000012.12:g.56354857G>A, NC_000012.11:g.56748641G>A, NG_046314.1:g.10397C>T, NM_005419.4:c.554C>T, NM_005419.3:c.554C>T, NM_198332.2:c.542C>T, NM_198332.1:c.542C>T, NM_001385113.1:c.554C>T, NM_001385114.1:c.554C>T, NM_001385110.1:c.542C>T, NM_001385115.1:c.542C>T, NM_001385111.1:c.554C>T, XM_011538698.4:c.542C>T, XM_011538698.3:c.542C>T, XM_011538698.2:c.542C>T, XM_011538698.1:c.542C>T, XM_011538699.4:c.554C>T, XM_011538699.3:c.554C>T, XM_011538699.2:c.554C>T, XM_011538699.1:c.554C>T, XR_245953.4:n.611C>T, XR_245953.3:n.665C>T, XR_245953.2:n.775C>T, XR_245953.1:n.778C>T, XM_011538697.3:c.554C>T, XM_011538697.2:c.554C>T, XM_011538697.1:c.554C>T, XM_047429468.1:c.554C>T, XR_007063122.1:n.599C>T, XM_047429470.1:c.554C>T, XM_047429472.1:c.554C>T, XM_047429471.1:c.554C>T, NP_005410.1:p.Thr185Ile, NP_938146.1:p.Thr181Ile, NP_001372042.1:p.Thr185Ile, NP_001372043.1:p.Thr185Ile, NP_001372039.1:p.Thr181Ile, NP_001372044.1:p.Thr181Ile, NP_001372040.1:p.Thr185Ile, XP_011537000.1:p.Thr181Ile, XP_011537001.1:p.Thr185Ile, XP_011536999.1:p.Thr185Ile, XP_047285424.1:p.Thr185Ile, XP_047285426.1:p.Thr185Ile, XP_047285428.1:p.Thr185Ile, XP_047285427.1:p.Thr185Ile

Select item 148193233711.

rs1481932337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56350845 (GRCh38)
12:56744629 (GRCh37)
Canonical SPDI:: NC_000012.12:56350844:C:G
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56350845C>G, NC_000012.11:g.56744629C>G, NG_046314.1:g.14409G>C, NM_005419.4:c.1078G>C, NM_005419.3:c.1078G>C, NM_198332.2:c.1066G>C, NM_198332.1:c.1066G>C, NM_001385113.1:c.1078G>C, NM_001385114.1:c.1078G>C, NM_001385110.1:c.1066G>C, NM_001385115.1:c.1066G>C, NM_001385111.1:c.1078G>C, XM_011538698.4:c.1066G>C, XM_011538698.3:c.1066G>C, XM_011538698.2:c.1066G>C, XM_011538698.1:c.1066G>C, XM_011538699.4:c.1078G>C, XM_011538699.3:c.1078G>C, XM_011538699.2:c.1078G>C, XM_011538699.1:c.1078G>C, XR_245953.4:n.1135G>C, XR_245953.3:n.1189G>C, XR_245953.2:n.1299G>C, XR_245953.1:n.1302G>C, XM_011538697.3:c.1078G>C, XM_011538697.2:c.1078G>C, XM_011538697.1:c.1078G>C, XM_047429469.1:c.109G>C, XM_047429468.1:c.1078G>C, XR_007063122.1:n.1123G>C, XM_047429470.1:c.1078G>C, XM_047429472.1:c.1078G>C, XM_047429471.1:c.1078G>C, NP_005410.1:p.Glu360Gln, NP_938146.1:p.Glu356Gln, NP_001372042.1:p.Glu360Gln, NP_001372043.1:p.Glu360Gln, NP_001372039.1:p.Glu356Gln, NP_001372044.1:p.Glu356Gln, NP_001372040.1:p.Glu360Gln, XP_011537000.1:p.Glu356Gln, XP_011537001.1:p.Glu360Gln, XP_011536999.1:p.Glu360Gln, XP_047285425.1:p.Glu37Gln, XP_047285424.1:p.Glu360Gln, XP_047285426.1:p.Glu360Gln, XP_047285428.1:p.Glu360Gln, XP_047285427.1:p.Glu360Gln

Select item 148051551812.

rs1480515518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:56343529 (GRCh38)
12:56737313 (GRCh37)
Canonical SPDI:: NC_000012.12:56343528:A:C
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.56343529A>C, NC_000012.11:g.56737313A>C, NG_046314.1:g.21725T>G, NM_005419.4:c.2416T>G, NM_005419.3:c.2416T>G, NM_198332.2:c.2404T>G, NM_198332.1:c.2404T>G, NM_001385114.1:c.2395T>G, NM_001385110.1:c.2383T>G, NM_001385115.1:c.2374T>G, NM_001385111.1:c.2317T>G, XM_011538698.4:c.2428T>G, XM_011538698.3:c.2428T>G, XM_011538698.2:c.2428T>G, XM_011538698.1:c.2428T>G, XM_011538697.3:c.2440T>G, XM_011538697.2:c.2440T>G, XM_011538697.1:c.2440T>G, XM_047429469.1:c.1471T>G, NP_005410.1:p.Phe806Val, NP_938146.1:p.Phe802Val, NP_001372043.1:p.Phe799Val, NP_001372039.1:p.Phe795Val, NP_001372044.1:p.Phe792Val, NP_001372040.1:p.Phe773Val, XP_011537000.1:p.Phe810Val, XP_011536999.1:p.Phe814Val, XP_047285425.1:p.Phe491Val

Select item 148022448813.

rs1480224488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56356186 (GRCh38)
12:56749970 (GRCh37)
Canonical SPDI:: NC_000012.12:56356185:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56356186G>A, NC_000012.11:g.56749970G>A, NG_046314.1:g.9068C>T, NM_005419.4:c.231C>T, NM_005419.3:c.231C>T, NM_198332.2:c.231C>T, NM_198332.1:c.231C>T, NM_001385113.1:c.231C>T, NM_001385114.1:c.231C>T, NM_001385110.1:c.231C>T, NM_001385115.1:c.231C>T, NM_001385111.1:c.231C>T, XM_011538698.4:c.231C>T, XM_011538698.3:c.231C>T, XM_011538698.2:c.231C>T, XM_011538698.1:c.231C>T, XM_011538699.4:c.231C>T, XM_011538699.3:c.231C>T, XM_011538699.2:c.231C>T, XM_011538699.1:c.231C>T, XR_245953.4:n.288C>T, XR_245953.3:n.342C>T, XR_245953.2:n.452C>T, XR_245953.1:n.455C>T, XM_011538697.3:c.231C>T, XM_011538697.2:c.231C>T, XM_011538697.1:c.231C>T, XM_047429468.1:c.231C>T, XR_007063122.1:n.288C>T, XM_047429470.1:c.231C>T, XM_047429472.1:c.231C>T, XM_047429471.1:c.231C>T

Select item 147557194614.

rs1475571946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56344075 (GRCh38)
12:56737859 (GRCh37)
Canonical SPDI:: NC_000012.12:56344074:T:C
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56344075T>C, NC_000012.11:g.56737859T>C, NG_046314.1:g.21179A>G, NM_005419.4:c.2163A>G, NM_005419.3:c.2163A>G, NM_198332.2:c.2151A>G, NM_198332.1:c.2151A>G, NM_001385113.1:c.2163A>G, NM_001385114.1:c.2142A>G, NM_001385110.1:c.2130A>G, NM_001385115.1:c.2121A>G, NM_001385111.1:c.2064A>G, XM_011538698.4:c.2175A>G, XM_011538698.3:c.2175A>G, XM_011538698.2:c.2175A>G, XM_011538698.1:c.2175A>G, XM_011538697.3:c.2187A>G, XM_011538697.2:c.2187A>G, XM_011538697.1:c.2187A>G, XM_047429469.1:c.1218A>G

Select item 147526854815.

rs1475268548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56349486 (GRCh38)
12:56743270 (GRCh37)
Canonical SPDI:: NC_000012.12:56349485:T:C
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56349486T>C, NC_000012.11:g.56743270T>C, NG_046314.1:g.15768A>G, NM_005419.4:c.1281A>G, NM_005419.3:c.1281A>G, NM_198332.2:c.1269A>G, NM_198332.1:c.1269A>G, NM_001385113.1:c.1281A>G, NM_001385114.1:c.1260A>G, NM_001385110.1:c.1248A>G, NM_001385115.1:c.1269A>G, NM_001385111.1:c.1281A>G, XM_011538698.4:c.1269A>G, XM_011538698.3:c.1269A>G, XM_011538698.2:c.1269A>G, XM_011538698.1:c.1269A>G, XM_011538699.4:c.1281A>G, XM_011538699.3:c.1281A>G, XM_011538699.2:c.1281A>G, XM_011538699.1:c.1281A>G, XR_245953.4:n.1338A>G, XR_245953.3:n.1392A>G, XR_245953.2:n.1502A>G, XR_245953.1:n.1505A>G, XM_011538697.3:c.1281A>G, XM_011538697.2:c.1281A>G, XM_011538697.1:c.1281A>G, XM_047429469.1:c.312A>G, XM_047429468.1:c.1281A>G, XR_007063122.1:n.1326A>G, XM_047429470.1:c.1281A>G, XM_047429472.1:c.1281A>G, XM_047429471.1:c.1281A>G

Select item 147455556316.

rs1474555563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56348967 (GRCh38)
12:56742751 (GRCh37)
Canonical SPDI:: NC_000012.12:56348966:G:A
Gene:: STAT2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56348967G>A, NC_000012.11:g.56742751G>A, NG_046314.1:g.16287C>T, NM_005419.4:c.1533C>T, NM_005419.3:c.1533C>T, NM_198332.2:c.1521C>T, NM_198332.1:c.1521C>T, NM_001385113.1:c.1533C>T, NM_001385114.1:c.1512C>T, NM_001385110.1:c.1500C>T, NM_001385115.1:c.1491C>T, NM_001385111.1:c.1434C>T, XM_011538698.4:c.1545C>T, XM_011538698.3:c.1545C>T, XM_011538698.2:c.1545C>T, XM_011538698.1:c.1545C>T, XM_011538699.4:c.1557C>T, XM_011538699.3:c.1557C>T, XM_011538699.2:c.1557C>T, XM_011538699.1:c.1557C>T, XM_011538697.3:c.1557C>T, XM_011538697.2:c.1557C>T, XM_011538697.1:c.1557C>T, XM_047429469.1:c.588C>T, XM_047429468.1:c.1533C>T

Select item 147336504217.

rs1473365042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56355451 (GRCh38)
12:56749235 (GRCh37)
Canonical SPDI:: NC_000012.12:56355450:T:C
Gene:: STAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.56355451T>C, NC_000012.11:g.56749235T>C, NG_046314.1:g.9803A>G, NM_005419.4:c.463A>G, NM_005419.3:c.463A>G, NM_198332.2:c.451A>G, NM_198332.1:c.451A>G, NM_001385113.1:c.463A>G, NM_001385114.1:c.463A>G, NM_001385110.1:c.451A>G, NM_001385115.1:c.451A>G, NM_001385111.1:c.463A>G, XM_011538698.4:c.451A>G, XM_011538698.3:c.451A>G, XM_011538698.2:c.451A>G, XM_011538698.1:c.451A>G, XM_011538699.4:c.463A>G, XM_011538699.3:c.463A>G, XM_011538699.2:c.463A>G, XM_011538699.1:c.463A>G, XR_245953.4:n.520A>G, XR_245953.3:n.574A>G, XR_245953.2:n.684A>G, XR_245953.1:n.687A>G, XM_011538697.3:c.463A>G, XM_011538697.2:c.463A>G, XM_011538697.1:c.463A>G, XM_047429468.1:c.463A>G, XR_007063122.1:n.508A>G, XM_047429470.1:c.463A>G, XM_047429472.1:c.463A>G, XM_047429471.1:c.463A>G, NP_005410.1:p.Met155Val, NP_938146.1:p.Met151Val, NP_001372042.1:p.Met155Val, NP_001372043.1:p.Met155Val, NP_001372039.1:p.Met151Val, NP_001372044.1:p.Met151Val, NP_001372040.1:p.Met155Val, XP_011537000.1:p.Met151Val, XP_011537001.1:p.Met155Val, XP_011536999.1:p.Met155Val, XP_047285424.1:p.Met155Val, XP_047285426.1:p.Met155Val, XP_047285428.1:p.Met155Val, XP_047285427.1:p.Met155Val

Select item 147260961718.

rs1472609617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56351447 (GRCh38)
12:56745231 (GRCh37)
Canonical SPDI:: NC_000012.12:56351446:G:C
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.56351447G>C, NC_000012.11:g.56745231G>C, NG_046314.1:g.13807C>G, NM_005419.4:c.786C>G, NM_005419.3:c.786C>G, NM_198332.2:c.774C>G, NM_198332.1:c.774C>G, NM_001385113.1:c.786C>G, NM_001385114.1:c.786C>G, NM_001385110.1:c.774C>G, NM_001385115.1:c.774C>G, NM_001385111.1:c.786C>G, XM_011538698.4:c.774C>G, XM_011538698.3:c.774C>G, XM_011538698.2:c.774C>G, XM_011538698.1:c.774C>G, XM_011538699.4:c.786C>G, XM_011538699.3:c.786C>G, XM_011538699.2:c.786C>G, XM_011538699.1:c.786C>G, XR_245953.4:n.843C>G, XR_245953.3:n.897C>G, XR_245953.2:n.1007C>G, XR_245953.1:n.1010C>G, XM_011538697.3:c.786C>G, XM_011538697.2:c.786C>G, XM_011538697.1:c.786C>G, XM_047429468.1:c.786C>G, XR_007063122.1:n.831C>G, XM_047429470.1:c.786C>G, XM_047429472.1:c.786C>G, XM_047429471.1:c.786C>G, NP_005410.1:p.Phe262Leu, NP_938146.1:p.Phe258Leu, NP_001372042.1:p.Phe262Leu, NP_001372043.1:p.Phe262Leu, NP_001372039.1:p.Phe258Leu, NP_001372044.1:p.Phe258Leu, NP_001372040.1:p.Phe262Leu, XP_011537000.1:p.Phe258Leu, XP_011537001.1:p.Phe262Leu, XP_011536999.1:p.Phe262Leu, XP_047285424.1:p.Phe262Leu, XP_047285426.1:p.Phe262Leu, XP_047285428.1:p.Phe262Leu, XP_047285427.1:p.Phe262Leu

Select item 147149256119.

rs1471492561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56354802 (GRCh38)
12:56748586 (GRCh37)
Canonical SPDI:: NC_000012.12:56354801:G:C
Gene:: STAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000012.12:g.56354802G>C, NC_000012.11:g.56748586G>C, NG_046314.1:g.10452C>G, NM_005419.4:c.609C>G, NM_005419.3:c.609C>G, NM_198332.2:c.597C>G, NM_198332.1:c.597C>G, NM_001385113.1:c.609C>G, NM_001385114.1:c.609C>G, NM_001385110.1:c.597C>G, NM_001385115.1:c.597C>G, NM_001385111.1:c.609C>G, XM_011538698.4:c.597C>G, XM_011538698.3:c.597C>G, XM_011538698.2:c.597C>G, XM_011538698.1:c.597C>G, XM_011538699.4:c.609C>G, XM_011538699.3:c.609C>G, XM_011538699.2:c.609C>G, XM_011538699.1:c.609C>G, XR_245953.4:n.666C>G, XR_245953.3:n.720C>G, XR_245953.2:n.830C>G, XR_245953.1:n.833C>G, XM_011538697.3:c.609C>G, XM_011538697.2:c.609C>G, XM_011538697.1:c.609C>G, XM_047429468.1:c.609C>G, XR_007063122.1:n.654C>G, XM_047429470.1:c.609C>G, XM_047429472.1:c.609C>G, XM_047429471.1:c.609C>G

Select item 147025931220.

rs1470259312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56343862 (GRCh38)
12:56737646 (GRCh37)
Canonical SPDI:: NC_000012.12:56343861:G:A,NC_000012.12:56343861:G:C
Gene:: STAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56343862G>A, NC_000012.12:g.56343862G>C, NC_000012.11:g.56737646G>A, NC_000012.11:g.56737646G>C, NG_046314.1:g.21392C>T, NG_046314.1:g.21392C>G, NM_005419.4:c.2376C>T, NM_005419.4:c.2376C>G, NM_005419.3:c.2376C>T, NM_005419.3:c.2376C>G, NM_198332.2:c.2364C>T, NM_198332.2:c.2364C>G, NM_198332.1:c.2364C>T, NM_198332.1:c.2364C>G, NM_001385113.1:c.2376C>T, NM_001385113.1:c.2376C>G, NM_001385114.1:c.2355C>T, NM_001385114.1:c.2355C>G, NM_001385110.1:c.2343C>T, NM_001385110.1:c.2343C>G, NM_001385115.1:c.2334C>T, NM_001385115.1:c.2334C>G, NM_001385111.1:c.2277C>T, NM_001385111.1:c.2277C>G, XM_011538698.4:c.2388C>T, XM_011538698.4:c.2388C>G, XM_011538698.3:c.2388C>T, XM_011538698.3:c.2388C>G, XM_011538698.2:c.2388C>T, XM_011538698.2:c.2388C>G, XM_011538698.1:c.2388C>T, XM_011538698.1:c.2388C>G, XM_011538697.3:c.2400C>T, XM_011538697.3:c.2400C>G, XM_011538697.2:c.2400C>T, XM_011538697.2:c.2400C>G, XM_011538697.1:c.2400C>T, XM_011538697.1:c.2400C>G, XM_047429469.1:c.1431C>T, XM_047429469.1:c.1431C>G

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