SNP Links for Protein (Select 6912516) - SNP

Links from Protein

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Select item 14884476151.

rs1488447615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:10054656 (GRCh38)
8:9912166 (GRCh37)
Canonical SPDI:: NC_000008.11:10054655:C:T
Gene:: MSRA (Varview), MSRA-DT (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.10054656C>T, NC_000008.10:g.9912166C>T, NW_018654717.1:g.3293752G>A, NM_012331.5:c.140C>T, NM_012331.4:c.140C>T, NM_012331.3:c.140C>T, XM_011543823.3:c.140C>T, XM_011543823.2:c.140C>T, XM_011543823.1:c.140C>T, NM_001135670.3:c.140C>T, NM_001135670.2:c.140C>T, NM_001135670.1:c.140C>T, XM_011543822.3:c.140C>T, XM_011543822.2:c.140C>T, XM_011543822.1:c.140C>T, XM_024447162.2:c.140C>T, XM_024447162.1:c.140C>T, NP_036463.1:p.Ala47Val, XP_011542125.1:p.Ala47Val, NP_001129142.1:p.Ala47Val, XP_011542124.1:p.Ala47Val, XP_024302930.1:p.Ala47Val

Select item 14854089902.

rs1485408990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:10245154 (GRCh38)
8:10102664 (GRCh37)
Canonical SPDI:: NC_000008.11:10245153:G:C
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.10245154G>C, NC_000008.10:g.10102664G>C, NW_018654717.1:g.3102243C>G, NM_012331.5:c.262G>C, NM_012331.4:c.262G>C, NM_012331.3:c.262G>C, XM_017013451.3:c.133G>C, XM_017013451.2:c.133G>C, XM_017013451.1:c.133G>C, XM_011543823.3:c.262G>C, XM_011543823.2:c.262G>C, XM_011543823.1:c.262G>C, NM_001199729.3:c.64G>C, NM_001199729.2:c.64G>C, NM_001199729.1:c.64G>C, XM_017013450.3:c.64G>C, XM_017013450.2:c.64G>C, XM_017013450.1:c.64G>C, XM_011543822.3:c.262G>C, XM_011543822.2:c.262G>C, XM_011543822.1:c.262G>C, NM_001135671.3:c.133G>C, NM_001135671.2:c.133G>C, NM_001135671.1:c.133G>C, XM_024447162.2:c.262G>C, XM_024447162.1:c.262G>C, NP_036463.1:p.Val88Leu, XP_016868940.1:p.Val45Leu, XP_011542125.1:p.Val88Leu, NP_001186658.1:p.Val22Leu, XP_016868939.1:p.Val22Leu, XP_011542124.1:p.Val88Leu, NP_001129143.1:p.Val45Leu, XP_024302930.1:p.Val88Leu

Select item 14789787443.

rs1478978744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:10054649 (GRCh38)
8:9912159 (GRCh37)
Canonical SPDI:: NC_000008.11:10054648:C:G
Gene:: MSRA (Varview), MSRA-DT (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000113/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.10054649C>G, NC_000008.10:g.9912159C>G, NW_018654717.1:g.3293759G>C, NM_012331.5:c.133C>G, NM_012331.4:c.133C>G, NM_012331.3:c.133C>G, XM_011543823.3:c.133C>G, XM_011543823.2:c.133C>G, XM_011543823.1:c.133C>G, NM_001135670.3:c.133C>G, NM_001135670.2:c.133C>G, NM_001135670.1:c.133C>G, XM_011543822.3:c.133C>G, XM_011543822.2:c.133C>G, XM_011543822.1:c.133C>G, XM_024447162.2:c.133C>G, XM_024447162.1:c.133C>G, NP_036463.1:p.Pro45Ala, XP_011542125.1:p.Pro45Ala, NP_001129142.1:p.Pro45Ala, XP_011542124.1:p.Pro45Ala, XP_024302930.1:p.Pro45Ala

Select item 14779764024.

rs1477976402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:10428195 (GRCh38)
8:10285705 (GRCh37)
Canonical SPDI:: NC_000008.11:10428194:G:A
Gene:: MSRA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.10428195G>A, NC_000008.10:g.10285705G>A, NW_018654717.1:g.2918833C>T, NM_012331.5:c.591G>A, NM_012331.4:c.591G>A, NM_012331.3:c.591G>A, NM_001199729.3:c.393G>A, NM_001199729.2:c.393G>A, NM_001199729.1:c.393G>A, NM_001135671.3:c.462G>A, NM_001135671.2:c.462G>A, NM_001135671.1:c.462G>A, XM_017013450.3:c.393G>A, XM_017013450.2:c.393G>A, XM_017013450.1:c.393G>A, NM_001135670.3:c.471G>A, NM_001135670.2:c.471G>A, NM_001135670.1:c.471G>A

Select item 14779319965.

rs1477931996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:10319903 (GRCh38)
8:10177413 (GRCh37)
Canonical SPDI:: NC_000008.11:10319902:C:G,NC_000008.11:10319902:C:T
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.10319903C>G, NC_000008.11:g.10319903C>T, NC_000008.10:g.10177413C>G, NC_000008.10:g.10177413C>T, NW_018654717.1:g.3027147G>C, NW_018654717.1:g.3027147G>A, NM_012331.5:c.457C>G, NM_012331.5:c.457C>T, NM_012331.4:c.457C>G, NM_012331.4:c.457C>T, NM_012331.3:c.457C>G, NM_012331.3:c.457C>T, XM_017013451.3:c.328C>G, XM_017013451.3:c.328C>T, XM_017013451.2:c.328C>G, XM_017013451.2:c.328C>T, XM_017013451.1:c.328C>G, XM_017013451.1:c.328C>T, XM_011543823.3:c.457C>G, XM_011543823.3:c.457C>T, XM_011543823.2:c.457C>G, XM_011543823.2:c.457C>T, XM_011543823.1:c.457C>G, XM_011543823.1:c.457C>T, NM_001199729.3:c.259C>G, NM_001199729.3:c.259C>T, NM_001199729.2:c.259C>G, NM_001199729.2:c.259C>T, NM_001199729.1:c.259C>G, NM_001199729.1:c.259C>T, NM_001135671.3:c.328C>G, NM_001135671.3:c.328C>T, NM_001135671.2:c.328C>G, NM_001135671.2:c.328C>T, NM_001135671.1:c.328C>G, NM_001135671.1:c.328C>T, XM_017013450.3:c.259C>G, XM_017013450.3:c.259C>T, XM_017013450.2:c.259C>G, XM_017013450.2:c.259C>T, XM_017013450.1:c.259C>G, XM_017013450.1:c.259C>T, NM_001135670.3:c.337C>G, NM_001135670.3:c.337C>T, NM_001135670.2:c.337C>G, NM_001135670.2:c.337C>T, NM_001135670.1:c.337C>G, NM_001135670.1:c.337C>T, XM_011543822.3:c.457C>G, XM_011543822.3:c.457C>T, XM_011543822.2:c.457C>G, XM_011543822.2:c.457C>T, XM_011543822.1:c.457C>G, XM_011543822.1:c.457C>T, NP_036463.1:p.His153Asp, NP_036463.1:p.His153Tyr, XP_016868940.1:p.His110Asp, XP_016868940.1:p.His110Tyr, XP_011542125.1:p.His153Asp, XP_011542125.1:p.His153Tyr, NP_001186658.1:p.His87Asp, NP_001186658.1:p.His87Tyr, NP_001129143.1:p.His110Asp, NP_001129143.1:p.His110Tyr, XP_016868939.1:p.His87Asp, XP_016868939.1:p.His87Tyr, NP_001129142.1:p.His113Asp, NP_001129142.1:p.His113Tyr, XP_011542124.1:p.His153Asp, XP_011542124.1:p.His153Tyr

Select item 14765626486.

rs1476562648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:10319916 (GRCh38)
8:10177426 (GRCh37)
Canonical SPDI:: NC_000008.11:10319915:A:G
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.10319916A>G, NC_000008.10:g.10177426A>G, NW_018654717.1:g.3027134T>C, NM_012331.5:c.470A>G, NM_012331.4:c.470A>G, NM_012331.3:c.470A>G, XM_017013451.3:c.341A>G, XM_017013451.2:c.341A>G, XM_017013451.1:c.341A>G, XM_011543823.3:c.470A>G, XM_011543823.2:c.470A>G, XM_011543823.1:c.470A>G, NM_001199729.3:c.272A>G, NM_001199729.2:c.272A>G, NM_001199729.1:c.272A>G, NM_001135671.3:c.341A>G, NM_001135671.2:c.341A>G, NM_001135671.1:c.341A>G, XM_017013450.3:c.272A>G, XM_017013450.2:c.272A>G, XM_017013450.1:c.272A>G, NM_001135670.3:c.350A>G, NM_001135670.2:c.350A>G, NM_001135670.1:c.350A>G, XM_011543822.3:c.470A>G, XM_011543822.2:c.470A>G, XM_011543822.1:c.470A>G, NP_036463.1:p.Tyr157Cys, XP_016868940.1:p.Tyr114Cys, XP_011542125.1:p.Tyr157Cys, NP_001186658.1:p.Tyr91Cys, NP_001129143.1:p.Tyr114Cys, XP_016868939.1:p.Tyr91Cys, NP_001129142.1:p.Tyr117Cys, XP_011542124.1:p.Tyr157Cys

Select item 14750162557.

rs1475016255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:10054615 (GRCh38)
8:9912125 (GRCh37)
Canonical SPDI:: NC_000008.11:10054614:C:T
Gene:: MSRA (Varview), MSRA-DT (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.10054615C>T, NC_000008.10:g.9912125C>T, NW_018654717.1:g.3293793G>A, NM_012331.5:c.99C>T, NM_012331.4:c.99C>T, NM_012331.3:c.99C>T, XM_011543823.3:c.99C>T, XM_011543823.2:c.99C>T, XM_011543823.1:c.99C>T, NM_001135670.3:c.99C>T, NM_001135670.2:c.99C>T, NM_001135670.1:c.99C>T, XM_011543822.3:c.99C>T, XM_011543822.2:c.99C>T, XM_011543822.1:c.99C>T, XM_024447162.2:c.99C>T, XM_024447162.1:c.99C>T

Select item 14632487878.

rs1463248787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:10428159 (GRCh38)
8:10285669 (GRCh37)
Canonical SPDI:: NC_000008.11:10428158:G:C
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.10428159G>C, NC_000008.10:g.10285669G>C, NW_018654717.1:g.2918869C>G, NM_012331.5:c.555G>C, NM_012331.4:c.555G>C, NM_012331.3:c.555G>C, NM_001199729.3:c.357G>C, NM_001199729.2:c.357G>C, NM_001199729.1:c.357G>C, NM_001135671.3:c.426G>C, NM_001135671.2:c.426G>C, NM_001135671.1:c.426G>C, XM_017013450.3:c.357G>C, XM_017013450.2:c.357G>C, XM_017013450.1:c.357G>C, NM_001135670.3:c.435G>C, NM_001135670.2:c.435G>C, NM_001135670.1:c.435G>C, NP_036463.1:p.Glu185Asp, NP_001186658.1:p.Glu119Asp, NP_001129143.1:p.Glu142Asp, XP_016868939.1:p.Glu119Asp, NP_001129142.1:p.Glu145Asp

Select item 14585914799.

rs1458591479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:10319904 (GRCh38)
8:10177414 (GRCh37)
Canonical SPDI:: NC_000008.11:10319903:A:G,NC_000008.11:10319903:A:T
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.10319904A>G, NC_000008.11:g.10319904A>T, NC_000008.10:g.10177414A>G, NC_000008.10:g.10177414A>T, NW_018654717.1:g.3027146T>C, NW_018654717.1:g.3027146T>A, NM_012331.5:c.458A>G, NM_012331.5:c.458A>T, NM_012331.4:c.458A>G, NM_012331.4:c.458A>T, NM_012331.3:c.458A>G, NM_012331.3:c.458A>T, XM_017013451.3:c.329A>G, XM_017013451.3:c.329A>T, XM_017013451.2:c.329A>G, XM_017013451.2:c.329A>T, XM_017013451.1:c.329A>G, XM_017013451.1:c.329A>T, XM_011543823.3:c.458A>G, XM_011543823.3:c.458A>T, XM_011543823.2:c.458A>G, XM_011543823.2:c.458A>T, XM_011543823.1:c.458A>G, XM_011543823.1:c.458A>T, NM_001199729.3:c.260A>G, NM_001199729.3:c.260A>T, NM_001199729.2:c.260A>G, NM_001199729.2:c.260A>T, NM_001199729.1:c.260A>G, NM_001199729.1:c.260A>T, NM_001135671.3:c.329A>G, NM_001135671.3:c.329A>T, NM_001135671.2:c.329A>G, NM_001135671.2:c.329A>T, NM_001135671.1:c.329A>G, NM_001135671.1:c.329A>T, XM_017013450.3:c.260A>G, XM_017013450.3:c.260A>T, XM_017013450.2:c.260A>G, XM_017013450.2:c.260A>T, XM_017013450.1:c.260A>G, XM_017013450.1:c.260A>T, NM_001135670.3:c.338A>G, NM_001135670.3:c.338A>T, NM_001135670.2:c.338A>G, NM_001135670.2:c.338A>T, NM_001135670.1:c.338A>G, NM_001135670.1:c.338A>T, XM_011543822.3:c.458A>G, XM_011543822.3:c.458A>T, XM_011543822.2:c.458A>G, XM_011543822.2:c.458A>T, XM_011543822.1:c.458A>G, XM_011543822.1:c.458A>T, NP_036463.1:p.His153Arg, NP_036463.1:p.His153Leu, XP_016868940.1:p.His110Arg, XP_016868940.1:p.His110Leu, XP_011542125.1:p.His153Arg, XP_011542125.1:p.His153Leu, NP_001186658.1:p.His87Arg, NP_001186658.1:p.His87Leu, NP_001129143.1:p.His110Arg, NP_001129143.1:p.His110Leu, XP_016868939.1:p.His87Arg, XP_016868939.1:p.His87Leu, NP_001129142.1:p.His113Arg, NP_001129142.1:p.His113Leu, XP_011542124.1:p.His153Arg, XP_011542124.1:p.His153Leu

Select item 145833178710.

rs1458331787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:10207899 (GRCh38)
8:10065409 (GRCh37)
Canonical SPDI:: NC_000008.11:10207898:T:C
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00009/4 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.10207899T>C, NC_000008.10:g.10065409T>C, NW_018654717.1:g.3139493A>G, NM_012331.5:c.209T>C, NM_012331.4:c.209T>C, NM_012331.3:c.209T>C, XM_017013451.3:c.80T>C, XM_017013451.2:c.80T>C, XM_017013451.1:c.80T>C, XM_011543823.3:c.209T>C, XM_011543823.2:c.209T>C, XM_011543823.1:c.209T>C, NM_001199729.3:c.11T>C, NM_001199729.2:c.11T>C, NM_001199729.1:c.11T>C, NM_001135671.3:c.80T>C, NM_001135671.2:c.80T>C, NM_001135671.1:c.80T>C, XM_017013450.3:c.11T>C, XM_017013450.2:c.11T>C, XM_017013450.1:c.11T>C, NM_001135670.3:c.209T>C, NM_001135670.2:c.209T>C, NM_001135670.1:c.209T>C, XM_011543822.3:c.209T>C, XM_011543822.2:c.209T>C, XM_011543822.1:c.209T>C, XM_024447162.2:c.209T>C, XM_024447162.1:c.209T>C, NP_036463.1:p.Phe70Ser, XP_016868940.1:p.Phe27Ser, XP_011542125.1:p.Phe70Ser, NP_001186658.1:p.Phe4Ser, NP_001129143.1:p.Phe27Ser, XP_016868939.1:p.Phe4Ser, NP_001129142.1:p.Phe70Ser, XP_011542124.1:p.Phe70Ser, XP_024302930.1:p.Phe70Ser

Select item 145824533211.

rs1458245332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:10054561 (GRCh38)
8:9912071 (GRCh37)
Canonical SPDI:: NC_000008.11:10054560:C:A,NC_000008.11:10054560:C:G
Gene:: MSRA (Varview), MSRA-DT (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.10054561C>A, NC_000008.11:g.10054561C>G, NC_000008.10:g.9912071C>A, NC_000008.10:g.9912071C>G, NW_018654717.1:g.3293847G>T, NW_018654717.1:g.3293847G>C, NM_012331.5:c.45C>A, NM_012331.5:c.45C>G, NM_012331.4:c.45C>A, NM_012331.4:c.45C>G, NM_012331.3:c.45C>A, NM_012331.3:c.45C>G, XM_011543823.3:c.45C>A, XM_011543823.3:c.45C>G, XM_011543823.2:c.45C>A, XM_011543823.2:c.45C>G, XM_011543823.1:c.45C>A, XM_011543823.1:c.45C>G, NM_001135670.3:c.45C>A, NM_001135670.3:c.45C>G, NM_001135670.2:c.45C>A, NM_001135670.2:c.45C>G, NM_001135670.1:c.45C>A, NM_001135670.1:c.45C>G, XM_011543822.3:c.45C>A, XM_011543822.3:c.45C>G, XM_011543822.2:c.45C>A, XM_011543822.2:c.45C>G, XM_011543822.1:c.45C>A, XM_011543822.1:c.45C>G, XM_024447162.2:c.45C>A, XM_024447162.2:c.45C>G, XM_024447162.1:c.45C>A, XM_024447162.1:c.45C>G, NP_036463.1:p.His15Gln, NP_036463.1:p.His15Gln, XP_011542125.1:p.His15Gln, XP_011542125.1:p.His15Gln, NP_001129142.1:p.His15Gln, NP_001129142.1:p.His15Gln, XP_011542124.1:p.His15Gln, XP_011542124.1:p.His15Gln, XP_024302930.1:p.His15Gln, XP_024302930.1:p.His15Gln

Select item 145696932312.

rs1456969323 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 8:10428241 (GRCh38)
8:10285751 (GRCh37)
Canonical SPDI:: NC_000008.11:10428240:A:
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.10428241del, NC_000008.10:g.10285751del, NW_018654717.1:g.2918787del, NM_012331.5:c.637del, NM_012331.4:c.637del, NM_012331.3:c.637del, NM_001199729.3:c.439del, NM_001199729.2:c.439del, NM_001199729.1:c.439del, NM_001135671.3:c.508del, NM_001135671.2:c.508del, NM_001135671.1:c.508del, XM_017013450.3:c.439del, XM_017013450.2:c.439del, XM_017013450.1:c.439del, NM_001135670.3:c.517del, NM_001135670.2:c.517del, NM_001135670.1:c.517del, NP_036463.1:p.Ser213fs, NP_001186658.1:p.Ser147fs, NP_001129143.1:p.Ser170fs, XP_016868939.1:p.Ser147fs, NP_001129142.1:p.Ser173fs

Select item 145530844813.

rs1455308448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:10319925 (GRCh38)
8:10177435 (GRCh37)
Canonical SPDI:: NC_000008.11:10319924:C:G
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000008.11:g.10319925C>G, NC_000008.10:g.10177435C>G, NW_018654717.1:g.3027125G>C, NM_012331.5:c.479C>G, NM_012331.4:c.479C>G, NM_012331.3:c.479C>G, XM_017013451.3:c.350C>G, XM_017013451.2:c.350C>G, XM_017013451.1:c.350C>G, XM_011543823.3:c.479C>G, XM_011543823.2:c.479C>G, XM_011543823.1:c.479C>G, NM_001199729.3:c.281C>G, NM_001199729.2:c.281C>G, NM_001199729.1:c.281C>G, NM_001135671.3:c.350C>G, NM_001135671.2:c.350C>G, NM_001135671.1:c.350C>G, XM_017013450.3:c.281C>G, XM_017013450.2:c.281C>G, XM_017013450.1:c.281C>G, NM_001135670.3:c.359C>G, NM_001135670.2:c.359C>G, NM_001135670.1:c.359C>G, XM_011543822.3:c.479C>G, XM_011543822.2:c.479C>G, XM_011543822.1:c.479C>G, NP_036463.1:p.Ala160Gly, XP_016868940.1:p.Ala117Gly, XP_011542125.1:p.Ala160Gly, NP_001186658.1:p.Ala94Gly, NP_001129143.1:p.Ala117Gly, XP_016868939.1:p.Ala94Gly, NP_001129142.1:p.Ala120Gly, XP_011542124.1:p.Ala160Gly

Select item 145526264414.

rs1455262644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:10301578 (GRCh38)
8:10159088 (GRCh37)
Canonical SPDI:: NC_000008.11:10301577:G:C
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.10301578G>C, NC_000008.10:g.10159088G>C, NW_018654717.1:g.3045475C>G, NM_012331.5:c.376G>C, NM_012331.4:c.376G>C, NM_012331.3:c.376G>C, XM_017013451.3:c.247G>C, XM_017013451.2:c.247G>C, XM_017013451.1:c.247G>C, XM_011543823.3:c.376G>C, XM_011543823.2:c.376G>C, XM_011543823.1:c.376G>C, NM_001199729.3:c.178G>C, NM_001199729.2:c.178G>C, NM_001199729.1:c.178G>C, NM_001135671.3:c.247G>C, NM_001135671.2:c.247G>C, NM_001135671.1:c.247G>C, XM_017013450.3:c.178G>C, XM_017013450.2:c.178G>C, XM_017013450.1:c.178G>C, NM_001135670.3:c.256G>C, NM_001135670.2:c.256G>C, NM_001135670.1:c.256G>C, XM_011543822.3:c.376G>C, XM_011543822.2:c.376G>C, XM_011543822.1:c.376G>C, NP_036463.1:p.Glu126Gln, XP_016868940.1:p.Glu83Gln, XP_011542125.1:p.Glu126Gln, NP_001186658.1:p.Glu60Gln, NP_001129143.1:p.Glu83Gln, XP_016868939.1:p.Glu60Gln, NP_001129142.1:p.Glu86Gln, XP_011542124.1:p.Glu126Gln

Select item 145301061915.

rs1453010619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:10207870 (GRCh38)
8:10065380 (GRCh37)
Canonical SPDI:: NC_000008.11:10207869:T:C
Gene:: MSRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.10207870T>C, NC_000008.10:g.10065380T>C, NW_018654717.1:g.3139522A>G, NM_012331.5:c.180T>C, NM_012331.4:c.180T>C, NM_012331.3:c.180T>C, XM_017013451.3:c.51T>C, XM_017013451.2:c.51T>C, XM_017013451.1:c.51T>C, XM_011543823.3:c.180T>C, XM_011543823.2:c.180T>C, XM_011543823.1:c.180T>C, NM_001199729.3:c.-19T>C, NM_001199729.2:c.-19T>C, NM_001199729.1:c.-19T>C, NM_001135671.3:c.51T>C, NM_001135671.2:c.51T>C, NM_001135671.1:c.51T>C, XM_017013450.3:c.-19T>C, XM_017013450.2:c.-19T>C, XM_017013450.1:c.-19T>C, NM_001135670.3:c.180T>C, NM_001135670.2:c.180T>C, NM_001135670.1:c.180T>C, XM_011543822.3:c.180T>C, XM_011543822.2:c.180T>C, XM_011543822.1:c.180T>C, XM_024447162.2:c.180T>C, XM_024447162.1:c.180T>C

Select item 145224570416.

rs1452245704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:10428241 (GRCh38)
8:10285751 (GRCh37)
Canonical SPDI:: NC_000008.11:10428240:A:G,NC_000008.11:10428240:A:T
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00103/3 (KOREAN)
HGVS:: NC_000008.11:g.10428241A>G, NC_000008.11:g.10428241A>T, NC_000008.10:g.10285751A>G, NC_000008.10:g.10285751A>T, NW_018654717.1:g.2918787T>C, NW_018654717.1:g.2918787T>A, NM_012331.5:c.637A>G, NM_012331.5:c.637A>T, NM_012331.4:c.637A>G, NM_012331.4:c.637A>T, NM_012331.3:c.637A>G, NM_012331.3:c.637A>T, NM_001199729.3:c.439A>G, NM_001199729.3:c.439A>T, NM_001199729.2:c.439A>G, NM_001199729.2:c.439A>T, NM_001199729.1:c.439A>G, NM_001199729.1:c.439A>T, NM_001135671.3:c.508A>G, NM_001135671.3:c.508A>T, NM_001135671.2:c.508A>G, NM_001135671.2:c.508A>T, NM_001135671.1:c.508A>G, NM_001135671.1:c.508A>T, XM_017013450.3:c.439A>G, XM_017013450.3:c.439A>T, XM_017013450.2:c.439A>G, XM_017013450.2:c.439A>T, XM_017013450.1:c.439A>G, XM_017013450.1:c.439A>T, NM_001135670.3:c.517A>G, NM_001135670.3:c.517A>T, NM_001135670.2:c.517A>G, NM_001135670.2:c.517A>T, NM_001135670.1:c.517A>G, NM_001135670.1:c.517A>T, NP_036463.1:p.Ser213Gly, NP_036463.1:p.Ser213Cys, NP_001186658.1:p.Ser147Gly, NP_001186658.1:p.Ser147Cys, NP_001129143.1:p.Ser170Gly, NP_001129143.1:p.Ser170Cys, XP_016868939.1:p.Ser147Gly, XP_016868939.1:p.Ser147Cys, NP_001129142.1:p.Ser173Gly, NP_001129142.1:p.Ser173Cys

Select item 144975670417.

rs1449756704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:10054596 (GRCh38)
8:9912106 (GRCh37)
Canonical SPDI:: NC_000008.11:10054595:C:A,NC_000008.11:10054595:C:T
Gene:: MSRA (Varview), MSRA-DT (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.10054596C>A, NC_000008.11:g.10054596C>T, NC_000008.10:g.9912106C>A, NC_000008.10:g.9912106C>T, NW_018654717.1:g.3293812G>T, NW_018654717.1:g.3293812G>A, NM_012331.5:c.80C>A, NM_012331.5:c.80C>T, NM_012331.4:c.80C>A, NM_012331.4:c.80C>T, NM_012331.3:c.80C>A, NM_012331.3:c.80C>T, XM_011543823.3:c.80C>A, XM_011543823.3:c.80C>T, XM_011543823.2:c.80C>A, XM_011543823.2:c.80C>T, XM_011543823.1:c.80C>A, XM_011543823.1:c.80C>T, NM_001135670.3:c.80C>A, NM_001135670.3:c.80C>T, NM_001135670.2:c.80C>A, NM_001135670.2:c.80C>T, NM_001135670.1:c.80C>A, NM_001135670.1:c.80C>T, XM_011543822.3:c.80C>A, XM_011543822.3:c.80C>T, XM_011543822.2:c.80C>A, XM_011543822.2:c.80C>T, XM_011543822.1:c.80C>A, XM_011543822.1:c.80C>T, XM_024447162.2:c.80C>A, XM_024447162.2:c.80C>T, XM_024447162.1:c.80C>A, XM_024447162.1:c.80C>T, NP_036463.1:p.Ala27Asp, NP_036463.1:p.Ala27Val, XP_011542125.1:p.Ala27Asp, XP_011542125.1:p.Ala27Val, NP_001129142.1:p.Ala27Asp, NP_001129142.1:p.Ala27Val, XP_011542124.1:p.Ala27Asp, XP_011542124.1:p.Ala27Val, XP_024302930.1:p.Ala27Asp, XP_024302930.1:p.Ala27Val

Select item 144878670618.

rs1448786706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:10207889 (GRCh38)
8:10065399 (GRCh37)
Canonical SPDI:: NC_000008.11:10207888:A:G
Gene:: MSRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.10207889A>G, NC_000008.10:g.10065399A>G, NW_018654717.1:g.3139503T>C, NM_012331.5:c.199A>G, NM_012331.4:c.199A>G, NM_012331.3:c.199A>G, XM_017013451.3:c.70A>G, XM_017013451.2:c.70A>G, XM_017013451.1:c.70A>G, XM_011543823.3:c.199A>G, XM_011543823.2:c.199A>G, XM_011543823.1:c.199A>G, NM_001199729.3:c.1A>G, NM_001199729.2:c.1A>G, NM_001199729.1:c.1A>G, NM_001135671.3:c.70A>G, NM_001135671.2:c.70A>G, NM_001135671.1:c.70A>G, XM_017013450.3:c.1A>G, XM_017013450.2:c.1A>G, XM_017013450.1:c.1A>G, NM_001135670.3:c.199A>G, NM_001135670.2:c.199A>G, NM_001135670.1:c.199A>G, XM_011543822.3:c.199A>G, XM_011543822.2:c.199A>G, XM_011543822.1:c.199A>G, XM_024447162.2:c.199A>G, XM_024447162.1:c.199A>G, NP_036463.1:p.Met67Val, XP_016868940.1:p.Met24Val, XP_011542125.1:p.Met67Val, NP_001186658.1:p.Met1Val, NP_001129143.1:p.Met24Val, XP_016868939.1:p.Met1Val, NP_001129142.1:p.Met67Val, XP_011542124.1:p.Met67Val, XP_024302930.1:p.Met67Val

Select item 144803142719.

rs1448031427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:10319889 (GRCh38)
8:10177399 (GRCh37)
Canonical SPDI:: NC_000008.11:10319888:G:A,NC_000008.11:10319888:G:T
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00014/2 (TOMMO)
HGVS:: NC_000008.11:g.10319889G>A, NC_000008.11:g.10319889G>T, NC_000008.10:g.10177399G>A, NC_000008.10:g.10177399G>T, NW_018654717.1:g.3027161C>T, NW_018654717.1:g.3027161C>A, NM_012331.5:c.443G>A, NM_012331.5:c.443G>T, NM_012331.4:c.443G>A, NM_012331.4:c.443G>T, NM_012331.3:c.443G>A, NM_012331.3:c.443G>T, XM_017013451.3:c.314G>A, XM_017013451.3:c.314G>T, XM_017013451.2:c.314G>A, XM_017013451.2:c.314G>T, XM_017013451.1:c.314G>A, XM_017013451.1:c.314G>T, NM_001199729.3:c.245G>A, NM_001199729.3:c.245G>T, NM_001199729.2:c.245G>A, NM_001199729.2:c.245G>T, NM_001199729.1:c.245G>A, NM_001199729.1:c.245G>T, NM_001135671.3:c.314G>A, NM_001135671.3:c.314G>T, NM_001135671.2:c.314G>A, NM_001135671.2:c.314G>T, NM_001135671.1:c.314G>A, NM_001135671.1:c.314G>T, XM_017013450.3:c.245G>A, XM_017013450.3:c.245G>T, XM_017013450.2:c.245G>A, XM_017013450.2:c.245G>T, XM_017013450.1:c.245G>A, XM_017013450.1:c.245G>T, NM_001135670.3:c.323G>A, NM_001135670.3:c.323G>T, NM_001135670.2:c.323G>A, NM_001135670.2:c.323G>T, NM_001135670.1:c.323G>A, NM_001135670.1:c.323G>T, XM_011543822.3:c.443G>A, XM_011543822.3:c.443G>T, XM_011543822.2:c.443G>A, XM_011543822.2:c.443G>T, XM_011543822.1:c.443G>A, XM_011543822.1:c.443G>T, XM_011543823.3:c.443G>A, XM_011543823.3:c.443G>T, XM_011543823.2:c.443G>A, XM_011543823.2:c.443G>T, XM_011543823.1:c.443G>A, XM_011543823.1:c.443G>T, NP_036463.1:p.Arg148His, NP_036463.1:p.Arg148Leu, XP_016868940.1:p.Arg105His, XP_016868940.1:p.Arg105Leu, NP_001186658.1:p.Arg82His, NP_001186658.1:p.Arg82Leu, NP_001129143.1:p.Arg105His, NP_001129143.1:p.Arg105Leu, XP_016868939.1:p.Arg82His, XP_016868939.1:p.Arg82Leu, NP_001129142.1:p.Arg108His, NP_001129142.1:p.Arg108Leu, XP_011542124.1:p.Arg148His, XP_011542124.1:p.Arg148Leu, XP_011542125.1:p.Arg148His, XP_011542125.1:p.Arg148Leu

Select item 144772316820.

rs1447723168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:10301546 (GRCh38)
8:10159056 (GRCh37)
Canonical SPDI:: NC_000008.11:10301545:A:C,NC_000008.11:10301545:A:G
Gene:: MSRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.10301546A>C, NC_000008.11:g.10301546A>G, NC_000008.10:g.10159056A>C, NC_000008.10:g.10159056A>G, NW_018654717.1:g.3045507T>G, NW_018654717.1:g.3045507T>C, NM_012331.5:c.344A>C, NM_012331.5:c.344A>G, NM_012331.4:c.344A>C, NM_012331.4:c.344A>G, NM_012331.3:c.344A>C, NM_012331.3:c.344A>G, XM_017013451.3:c.215A>C, XM_017013451.3:c.215A>G, XM_017013451.2:c.215A>C, XM_017013451.2:c.215A>G, XM_017013451.1:c.215A>C, XM_017013451.1:c.215A>G, XM_011543823.3:c.344A>C, XM_011543823.3:c.344A>G, XM_011543823.2:c.344A>C, XM_011543823.2:c.344A>G, XM_011543823.1:c.344A>C, XM_011543823.1:c.344A>G, NM_001199729.3:c.146A>C, NM_001199729.3:c.146A>G, NM_001199729.2:c.146A>C, NM_001199729.2:c.146A>G, NM_001199729.1:c.146A>C, NM_001199729.1:c.146A>G, NM_001135671.3:c.215A>C, NM_001135671.3:c.215A>G, NM_001135671.2:c.215A>C, NM_001135671.2:c.215A>G, NM_001135671.1:c.215A>C, NM_001135671.1:c.215A>G, XM_017013450.3:c.146A>C, XM_017013450.3:c.146A>G, XM_017013450.2:c.146A>C, XM_017013450.2:c.146A>G, XM_017013450.1:c.146A>C, XM_017013450.1:c.146A>G, NM_001135670.3:c.224A>C, NM_001135670.3:c.224A>G, NM_001135670.2:c.224A>C, NM_001135670.2:c.224A>G, NM_001135670.1:c.224A>C, NM_001135670.1:c.224A>G, XM_011543822.3:c.344A>C, XM_011543822.3:c.344A>G, XM_011543822.2:c.344A>C, XM_011543822.2:c.344A>G, XM_011543822.1:c.344A>C, XM_011543822.1:c.344A>G, NP_036463.1:p.His115Pro, NP_036463.1:p.His115Arg, XP_016868940.1:p.His72Pro, XP_016868940.1:p.His72Arg, XP_011542125.1:p.His115Pro, XP_011542125.1:p.His115Arg, NP_001186658.1:p.His49Pro, NP_001186658.1:p.His49Arg, NP_001129143.1:p.His72Pro, NP_001129143.1:p.His72Arg, XP_016868939.1:p.His49Pro, XP_016868939.1:p.His49Arg, NP_001129142.1:p.His75Pro, NP_001129142.1:p.His75Arg, XP_011542124.1:p.His115Pro, XP_011542124.1:p.His115Arg

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