SNP Links for Protein (Select 55749531) - SNP

Links from Protein

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Select item 14888494061.

rs1488849406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:66059211 (GRCh38)
11:65826682 (GRCh37)
Canonical SPDI:: NC_000011.10:66059210:A:T
Gene:: SF3B2 (Varview)
Functional Consequence:: missense_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.66059211A>T, NC_000011.9:g.65826682A>T, XM_005273726.5:c.1190A>T, XM_005273726.4:c.1190A>T, XM_005273726.3:c.1190A>T, XM_005273726.2:c.1190A>T, XM_005273726.1:c.1190A>T, XM_011544740.4:c.1190A>T, XM_011544740.3:c.1190A>T, XM_011544740.2:c.1190A>T, XM_011544740.1:c.1190A>T, NM_006842.3:c.1193A>T, NM_006842.2:c.1193A>T, XM_017017144.3:c.1187A>T, XM_017017144.2:c.1187A>T, XM_017017144.1:c.1187A>T, XP_005273783.1:p.Asp397Val, XP_011543042.1:p.Asp397Val, NP_006833.2:p.Asp398Val, XP_016872633.1:p.Asp396Val

Select item 14846397642.

rs1484639764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:66068709 (GRCh38)
11:65836181 (GRCh37)
Canonical SPDI:: NC_000011.10:66068709:GGGGG:GGGGGG
Gene:: SF3B2 (Varview), PACS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66068714dup, NC_000011.9:g.65836185dup, NG_033900.1:g.3362dup, XM_005273726.5:c.2654dup, XM_005273726.4:c.2654dup, XM_005273726.3:c.2654dup, XM_005273726.2:c.2654dup, XM_005273726.1:c.2654dup, XM_011544740.4:c.2654dup, XM_011544740.3:c.2654dup, XM_011544740.2:c.2654dup, XM_011544740.1:c.2654dup, NM_006842.3:c.2657dup, NM_006842.2:c.2657dup, XM_017017144.3:c.2651dup, XM_017017144.2:c.2651dup, XM_017017144.1:c.2651dup, XP_005273783.1:p.Ser886fs, XP_011543042.1:p.Ser886fs, NP_006833.2:p.Ser887fs, XP_016872633.1:p.Ser885fs

Select item 14832874013.

rs1483287401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66055145 (GRCh38)
11:65822616 (GRCh37)
Canonical SPDI:: NC_000011.10:66055144:C:T
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.66055145C>T, NC_000011.9:g.65822616C>T, XM_005273726.5:c.328C>T, XM_005273726.4:c.328C>T, XM_005273726.3:c.328C>T, XM_005273726.2:c.328C>T, XM_005273726.1:c.328C>T, XM_011544740.4:c.328C>T, XM_011544740.3:c.328C>T, XM_011544740.2:c.328C>T, XM_011544740.1:c.328C>T, NM_006842.3:c.328C>T, NM_006842.2:c.328C>T, XM_017017144.3:c.328C>T, XM_017017144.2:c.328C>T, XM_017017144.1:c.328C>T, XP_005273783.1:p.Pro110Ser, XP_011543042.1:p.Pro110Ser, NP_006833.2:p.Pro110Ser, XP_016872633.1:p.Pro110Ser

Select item 14830398024.

rs1483039802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:66063427 (GRCh38)
11:65830898 (GRCh37)
Canonical SPDI:: NC_000011.10:66063426:C:G,NC_000011.10:66063426:C:T
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66063427C>G, NC_000011.10:g.66063427C>T, NC_000011.9:g.65830898C>G, NC_000011.9:g.65830898C>T, XM_005273726.5:c.2110C>G, XM_005273726.5:c.2110C>T, XM_005273726.4:c.2110C>G, XM_005273726.4:c.2110C>T, XM_005273726.3:c.2110C>G, XM_005273726.3:c.2110C>T, XM_005273726.2:c.2110C>G, XM_005273726.2:c.2110C>T, XM_005273726.1:c.2110C>G, XM_005273726.1:c.2110C>T, XM_011544740.4:c.2110C>G, XM_011544740.4:c.2110C>T, XM_011544740.3:c.2110C>G, XM_011544740.3:c.2110C>T, XM_011544740.2:c.2110C>G, XM_011544740.2:c.2110C>T, XM_011544740.1:c.2110C>G, XM_011544740.1:c.2110C>T, NM_006842.3:c.2113C>G, NM_006842.3:c.2113C>T, NM_006842.2:c.2113C>G, NM_006842.2:c.2113C>T, XM_017017144.3:c.2107C>G, XM_017017144.3:c.2107C>T, XM_017017144.2:c.2107C>G, XM_017017144.2:c.2107C>T, XM_017017144.1:c.2107C>G, XM_017017144.1:c.2107C>T, XP_005273783.1:p.Arg704Gly, XP_005273783.1:p.Arg704Trp, XP_011543042.1:p.Arg704Gly, XP_011543042.1:p.Arg704Trp, NP_006833.2:p.Arg705Gly, NP_006833.2:p.Arg705Trp, XP_016872633.1:p.Arg703Gly, XP_016872633.1:p.Arg703Trp

Select item 14830247595.

rs1483024759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66061686 (GRCh38)
11:65829157 (GRCh37)
Canonical SPDI:: NC_000011.10:66061685:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66061686G>A, NC_000011.9:g.65829157G>A, XM_005273726.5:c.1777G>A, XM_005273726.4:c.1777G>A, XM_005273726.3:c.1777G>A, XM_005273726.2:c.1777G>A, XM_005273726.1:c.1777G>A, XM_011544740.4:c.1777G>A, XM_011544740.3:c.1777G>A, XM_011544740.2:c.1777G>A, XM_011544740.1:c.1777G>A, NM_006842.3:c.1780G>A, NM_006842.2:c.1780G>A, XM_017017144.3:c.1774G>A, XM_017017144.2:c.1774G>A, XM_017017144.1:c.1774G>A, XP_005273783.1:p.Gly593Arg, XP_011543042.1:p.Gly593Arg, NP_006833.2:p.Gly594Arg, XP_016872633.1:p.Gly592Arg

Select item 14826385316.

rs1482638531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:66052393 (GRCh38)
11:65819864 (GRCh37)
Canonical SPDI:: NC_000011.10:66052392:G:A,NC_000011.10:66052392:G:C
Gene:: SF3B2 (Varview), SNORD13F (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66052393G>A, NC_000011.10:g.66052393G>C, NC_000011.9:g.65819864G>A, NC_000011.9:g.65819864G>C, XM_005273726.5:c.9G>A, XM_005273726.5:c.9G>C, XM_005273726.4:c.9G>A, XM_005273726.4:c.9G>C, XM_005273726.3:c.9G>A, XM_005273726.3:c.9G>C, XM_005273726.2:c.9G>A, XM_005273726.2:c.9G>C, XM_005273726.1:c.9G>A, XM_005273726.1:c.9G>C, XM_011544740.4:c.9G>A, XM_011544740.4:c.9G>C, XM_011544740.3:c.9G>A, XM_011544740.3:c.9G>C, XM_011544740.2:c.9G>A, XM_011544740.2:c.9G>C, XM_011544740.1:c.9G>A, XM_011544740.1:c.9G>C, NM_006842.3:c.9G>A, NM_006842.3:c.9G>C, NM_006842.2:c.9G>A, NM_006842.2:c.9G>C, XM_017017144.3:c.9G>A, XM_017017144.3:c.9G>C, XM_017017144.2:c.9G>A, XM_017017144.2:c.9G>C, XM_017017144.1:c.9G>A, XM_017017144.1:c.9G>C

Select item 14822800267.

rs1482280026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66067985 (GRCh38)
11:65835456 (GRCh37)
Canonical SPDI:: NC_000011.10:66067984:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66067985G>A, NC_000011.9:g.65835456G>A, NG_033900.1:g.2633G>A, XM_005273726.5:c.2367G>A, XM_005273726.4:c.2367G>A, XM_005273726.3:c.2367G>A, XM_005273726.2:c.2367G>A, XM_005273726.1:c.2367G>A, XM_011544740.4:c.2367G>A, XM_011544740.3:c.2367G>A, XM_011544740.2:c.2367G>A, XM_011544740.1:c.2367G>A, NM_006842.3:c.2370G>A, NM_006842.2:c.2370G>A, XM_017017144.3:c.2364G>A, XM_017017144.2:c.2364G>A, XM_017017144.1:c.2364G>A

Select item 14797696718.

rs1479769671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66058922 (GRCh38)
11:65826393 (GRCh37)
Canonical SPDI:: NC_000011.10:66058921:C:T
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66058922C>T, NC_000011.9:g.65826393C>T, XM_005273726.5:c.1056C>T, XM_005273726.4:c.1056C>T, XM_005273726.3:c.1056C>T, XM_005273726.2:c.1056C>T, XM_005273726.1:c.1056C>T, XM_011544740.4:c.1056C>T, XM_011544740.3:c.1056C>T, XM_011544740.2:c.1056C>T, XM_011544740.1:c.1056C>T, NM_006842.3:c.1059C>T, NM_006842.2:c.1059C>T, XM_017017144.3:c.1053C>T, XM_017017144.2:c.1053C>T, XM_017017144.1:c.1053C>T

Select item 14740969779.

rs1474096977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:66068040 (GRCh38)
11:65835511 (GRCh37)
Canonical SPDI:: NC_000011.10:66068039:T:A
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66068040T>A, NC_000011.9:g.65835511T>A, NG_033900.1:g.2688T>A, XM_005273726.5:c.2422T>A, XM_005273726.4:c.2422T>A, XM_005273726.3:c.2422T>A, XM_005273726.2:c.2422T>A, XM_005273726.1:c.2422T>A, XM_011544740.4:c.2422T>A, XM_011544740.3:c.2422T>A, XM_011544740.2:c.2422T>A, XM_011544740.1:c.2422T>A, NM_006842.3:c.2425T>A, NM_006842.2:c.2425T>A, XM_017017144.3:c.2419T>A, XM_017017144.2:c.2419T>A, XM_017017144.1:c.2419T>A, XP_005273783.1:p.Ser808Thr, XP_011543042.1:p.Ser808Thr, NP_006833.2:p.Ser809Thr, XP_016872633.1:p.Ser807Thr

Select item 147340001310.

rs1473400013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66068728 (GRCh38)
11:65836199 (GRCh37)
Canonical SPDI:: NC_000011.10:66068727:A:C
Gene:: SF3B2 (Varview), PACS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66068728A>C, NC_000011.9:g.65836199A>C, NG_033900.1:g.3376A>C, XM_005273726.5:c.2668A>C, XM_005273726.4:c.2668A>C, XM_005273726.3:c.2668A>C, XM_005273726.2:c.2668A>C, XM_005273726.1:c.2668A>C, XM_011544740.4:c.2668A>C, XM_011544740.3:c.2668A>C, XM_011544740.2:c.2668A>C, XM_011544740.1:c.2668A>C, NM_006842.3:c.2671A>C, NM_006842.2:c.2671A>C, XM_017017144.3:c.2665A>C, XM_017017144.2:c.2665A>C, XM_017017144.1:c.2665A>C, XP_005273783.1:p.Lys890Gln, XP_011543042.1:p.Lys890Gln, NP_006833.2:p.Lys891Gln, XP_016872633.1:p.Lys889Gln

Select item 147021511411.

rs1470215114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:66059902 (GRCh38)
11:65827373 (GRCh37)
Canonical SPDI:: NC_000011.10:66059901:C:G,NC_000011.10:66059901:C:T
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.66059902C>G, NC_000011.10:g.66059902C>T, NC_000011.9:g.65827373C>G, NC_000011.9:g.65827373C>T, XM_005273726.5:c.1519C>G, XM_005273726.5:c.1519C>T, XM_005273726.4:c.1519C>G, XM_005273726.4:c.1519C>T, XM_005273726.3:c.1519C>G, XM_005273726.3:c.1519C>T, XM_005273726.2:c.1519C>G, XM_005273726.2:c.1519C>T, XM_005273726.1:c.1519C>G, XM_005273726.1:c.1519C>T, XM_011544740.4:c.1519C>G, XM_011544740.4:c.1519C>T, XM_011544740.3:c.1519C>G, XM_011544740.3:c.1519C>T, XM_011544740.2:c.1519C>G, XM_011544740.2:c.1519C>T, XM_011544740.1:c.1519C>G, XM_011544740.1:c.1519C>T, NM_006842.3:c.1522C>G, NM_006842.3:c.1522C>T, NM_006842.2:c.1522C>G, NM_006842.2:c.1522C>T, XM_017017144.3:c.1516C>G, XM_017017144.3:c.1516C>T, XM_017017144.2:c.1516C>G, XM_017017144.2:c.1516C>T, XM_017017144.1:c.1516C>G, XM_017017144.1:c.1516C>T, XP_005273783.1:p.Arg507Gly, XP_005273783.1:p.Arg507Cys, XP_011543042.1:p.Arg507Gly, XP_011543042.1:p.Arg507Cys, NP_006833.2:p.Arg508Gly, NP_006833.2:p.Arg508Cys, XP_016872633.1:p.Arg506Gly, XP_016872633.1:p.Arg506Cys

Select item 146916100412.

rs1469161004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66058837 (GRCh38)
11:65826308 (GRCh37)
Canonical SPDI:: NC_000011.10:66058836:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
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.66058837G>A, NC_000011.9:g.65826308G>A, XM_005273726.5:c.971G>A, XM_005273726.4:c.971G>A, XM_005273726.3:c.971G>A, XM_005273726.2:c.971G>A, XM_005273726.1:c.971G>A, XM_011544740.4:c.971G>A, XM_011544740.3:c.971G>A, XM_011544740.2:c.971G>A, XM_011544740.1:c.971G>A, NM_006842.3:c.974G>A, NM_006842.2:c.974G>A, XM_017017144.3:c.968G>A, XM_017017144.2:c.968G>A, XM_017017144.1:c.968G>A, XP_005273783.1:p.Arg324Gln, XP_011543042.1:p.Arg324Gln, NP_006833.2:p.Arg325Gln, XP_016872633.1:p.Arg323Gln

Select item 146792198113.

rs1467921981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66057277 (GRCh38)
11:65824748 (GRCh37)
Canonical SPDI:: NC_000011.10:66057276:G:A,NC_000011.10:66057276:G:T
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66057277G>A, NC_000011.10:g.66057277G>T, NC_000011.9:g.65824748G>A, NC_000011.9:g.65824748G>T, XM_005273726.5:c.676G>A, XM_005273726.5:c.676G>T, XM_005273726.4:c.676G>A, XM_005273726.4:c.676G>T, XM_005273726.3:c.676G>A, XM_005273726.3:c.676G>T, XM_005273726.2:c.676G>A, XM_005273726.2:c.676G>T, XM_005273726.1:c.676G>A, XM_005273726.1:c.676G>T, XM_011544740.4:c.676G>A, XM_011544740.4:c.676G>T, XM_011544740.3:c.676G>A, XM_011544740.3:c.676G>T, XM_011544740.2:c.676G>A, XM_011544740.2:c.676G>T, XM_011544740.1:c.676G>A, XM_011544740.1:c.676G>T, NM_006842.3:c.679G>A, NM_006842.3:c.679G>T, NM_006842.2:c.679G>A, NM_006842.2:c.679G>T, XM_017017144.3:c.673G>A, XM_017017144.3:c.673G>T, XM_017017144.2:c.673G>A, XM_017017144.2:c.673G>T, XM_017017144.1:c.673G>A, XM_017017144.1:c.673G>T, XP_005273783.1:p.Val226Met, XP_005273783.1:p.Val226Leu, XP_011543042.1:p.Val226Met, XP_011543042.1:p.Val226Leu, NP_006833.2:p.Val227Met, NP_006833.2:p.Val227Leu, XP_016872633.1:p.Val225Met, XP_016872633.1:p.Val225Leu

Select item 146416705114.

rs1464167051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66057279 (GRCh38)
11:65824750 (GRCh37)
Canonical SPDI:: NC_000011.10:66057278:G:C
Gene:: SF3B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66057279G>C, NC_000011.9:g.65824750G>C, XM_005273726.5:c.678G>C, XM_005273726.4:c.678G>C, XM_005273726.3:c.678G>C, XM_005273726.2:c.678G>C, XM_005273726.1:c.678G>C, XM_011544740.4:c.678G>C, XM_011544740.3:c.678G>C, XM_011544740.2:c.678G>C, XM_011544740.1:c.678G>C, NM_006842.3:c.681G>C, NM_006842.2:c.681G>C, XM_017017144.3:c.675G>C, XM_017017144.2:c.675G>C, XM_017017144.1:c.675G>C

Select item 146241119915.

rs1462411199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66059880 (GRCh38)
11:65827351 (GRCh37)
Canonical SPDI:: NC_000011.10:66059879:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66059880G>A, NC_000011.9:g.65827351G>A, XM_005273726.5:c.1497G>A, XM_005273726.4:c.1497G>A, XM_005273726.3:c.1497G>A, XM_005273726.2:c.1497G>A, XM_005273726.1:c.1497G>A, XM_011544740.4:c.1497G>A, XM_011544740.3:c.1497G>A, XM_011544740.2:c.1497G>A, XM_011544740.1:c.1497G>A, NM_006842.3:c.1500G>A, NM_006842.2:c.1500G>A, XM_017017144.3:c.1494G>A, XM_017017144.2:c.1494G>A, XM_017017144.1:c.1494G>A

Select item 146210700716.

rs1462107007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66059299 (GRCh38)
11:65826770 (GRCh37)
Canonical SPDI:: NC_000011.10:66059298:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66059299G>A, NC_000011.9:g.65826770G>A, XM_005273726.5:c.1278G>A, XM_005273726.4:c.1278G>A, XM_005273726.3:c.1278G>A, XM_005273726.2:c.1278G>A, XM_005273726.1:c.1278G>A, XM_011544740.4:c.1278G>A, XM_011544740.3:c.1278G>A, XM_011544740.2:c.1278G>A, XM_011544740.1:c.1278G>A, NM_006842.3:c.1281G>A, NM_006842.2:c.1281G>A, XM_017017144.3:c.1275G>A, XM_017017144.2:c.1275G>A, XM_017017144.1:c.1275G>A

Select item 146122398917.

rs1461223989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66058055 (GRCh38)
11:65825526 (GRCh37)
Canonical SPDI:: NC_000011.10:66058054:T:C
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66058055T>C, NC_000011.9:g.65825526T>C, XM_005273726.5:c.776T>C, XM_005273726.4:c.776T>C, XM_005273726.3:c.776T>C, XM_005273726.2:c.776T>C, XM_005273726.1:c.776T>C, XM_011544740.4:c.776T>C, XM_011544740.3:c.776T>C, XM_011544740.2:c.776T>C, XM_011544740.1:c.776T>C, NM_006842.3:c.779T>C, NM_006842.2:c.779T>C, XM_017017144.3:c.773T>C, XM_017017144.2:c.773T>C, XM_017017144.1:c.773T>C, XP_005273783.1:p.Met259Thr, XP_011543042.1:p.Met259Thr, NP_006833.2:p.Met260Thr, XP_016872633.1:p.Met258Thr

Select item 145769116818.

rs1457691168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 11:66055093 (GRCh38)
11:65822565 (GRCh37)
Canonical SPDI:: NC_000011.10:66055093:CCACCACCACC:CCACCACCACCACC
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: CCA=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66055096ACC[4], NC_000011.9:g.65822567ACC[4], XM_005273726.5:c.279ACC[4], XM_005273726.4:c.279ACC[4], XM_005273726.3:c.279ACC[4], XM_005273726.2:c.279ACC[4], XM_005273726.1:c.279ACC[4], XM_011544740.4:c.279ACC[4], XM_011544740.3:c.279ACC[4], XM_011544740.2:c.279ACC[4], XM_011544740.1:c.279ACC[4], NM_006842.3:c.279ACC[4], NM_006842.2:c.279ACC[4], XM_017017144.3:c.279ACC[4], XM_017017144.2:c.279ACC[4], XM_017017144.1:c.279ACC[4], XP_005273783.1:p.Pro96dup, XP_011543042.1:p.Pro96dup, NP_006833.2:p.Pro96dup, XP_016872633.1:p.Pro96dup

Select item 145713204719.

rs1457132047 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:66059937 (GRCh38)
11:65827409 (GRCh37)
Canonical SPDI:: NC_000011.10:66059937:CCCCCC:CCCCCCC
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000011.10:g.66059943dup, NC_000011.9:g.65827414dup, XM_005273726.5:c.1560dup, XM_005273726.4:c.1560dup, XM_005273726.3:c.1560dup, XM_005273726.2:c.1560dup, XM_005273726.1:c.1560dup, XM_011544740.4:c.1560dup, XM_011544740.3:c.1560dup, XM_011544740.2:c.1560dup, XM_011544740.1:c.1560dup, NM_006842.3:c.1563dup, NM_006842.2:c.1563dup, XM_017017144.3:c.1557dup, XM_017017144.2:c.1557dup, XM_017017144.1:c.1557dup, XP_005273783.1:p.Phe521fs, XP_011543042.1:p.Phe521fs, NP_006833.2:p.Phe522fs, XP_016872633.1:p.Phe520fs

Select item 145704889020.

rs1457048890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66063057 (GRCh38)
11:65830528 (GRCh37)
Canonical SPDI:: NC_000011.10:66063056:G:A
Gene:: SF3B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66063057G>A, NC_000011.9:g.65830528G>A, XM_005273726.5:c.2023G>A, XM_005273726.4:c.2023G>A, XM_005273726.3:c.2023G>A, XM_005273726.2:c.2023G>A, XM_005273726.1:c.2023G>A, XM_011544740.4:c.2023G>A, XM_011544740.3:c.2023G>A, XM_011544740.2:c.2023G>A, XM_011544740.1:c.2023G>A, NM_006842.3:c.2026G>A, NM_006842.2:c.2026G>A, XM_017017144.3:c.2020G>A, XM_017017144.2:c.2020G>A, XM_017017144.1:c.2020G>A, XP_005273783.1:p.Asp675Asn, XP_011543042.1:p.Asp675Asn, NP_006833.2:p.Asp676Asn, XP_016872633.1:p.Asp674Asn

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