SNP Links for Protein (Select 768018403) - SNP

Links from Protein

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Select item 14903693271.

rs1490369327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46725656 (GRCh38)
20:45354295 (GRCh37)
Canonical SPDI:: NC_000020.11:46725655:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46725656C>T, NC_000020.10:g.45354295C>T, NG_016284.1:g.21017C>T, NM_030777.4:c.620C>T, NM_030777.3:c.620C>T, XM_011529061.3:c.629C>T, XM_011529061.2:c.629C>T, XM_011529061.1:c.629C>T, XM_011529060.3:c.683C>T, XM_011529060.2:c.683C>T, XM_011529060.1:c.683C>T, XM_011529062.3:c.683C>T, XM_011529062.2:c.683C>T, XM_011529062.1:c.683C>T, XM_011529065.3:c.683C>T, XM_011529065.2:c.683C>T, XM_011529065.1:c.683C>T, XM_017028087.3:c.620C>T, XM_017028087.2:c.620C>T, XM_017028087.1:c.620C>T, XM_011529063.3:c.683C>T, XM_011529063.2:c.683C>T, XM_011529063.1:c.683C>T, XM_011529064.3:c.683C>T, XM_011529064.2:c.683C>T, XM_011529064.1:c.683C>T, XM_047440529.1:c.620C>T, XM_047440528.1:c.683C>T, NP_110404.1:p.Pro207Leu, XP_011527363.1:p.Pro210Leu, XP_011527362.1:p.Pro228Leu, XP_011527364.1:p.Pro228Leu, XP_011527367.1:p.Pro228Leu, XP_016883576.1:p.Pro207Leu, XP_011527365.1:p.Pro228Leu, XP_011527366.1:p.Pro228Leu, XP_047296485.1:p.Pro207Leu, XP_047296484.1:p.Pro228Leu

Select item 14888821502.

rs1488882150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:46725131 (GRCh38)
20:45353770 (GRCh37)
Canonical SPDI:: NC_000020.11:46725130:C:G,NC_000020.11:46725130:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46725131C>G, NC_000020.11:g.46725131C>T, NC_000020.10:g.45353770C>G, NC_000020.10:g.45353770C>T, NG_016284.1:g.20492C>G, NG_016284.1:g.20492C>T, NM_030777.4:c.95C>G, NM_030777.4:c.95C>T, NM_030777.3:c.95C>G, NM_030777.3:c.95C>T, XM_011529061.3:c.104C>G, XM_011529061.3:c.104C>T, XM_011529061.2:c.104C>G, XM_011529061.2:c.104C>T, XM_011529061.1:c.104C>G, XM_011529061.1:c.104C>T, XM_011529060.3:c.158C>G, XM_011529060.3:c.158C>T, XM_011529060.2:c.158C>G, XM_011529060.2:c.158C>T, XM_011529060.1:c.158C>G, XM_011529060.1:c.158C>T, XM_011529062.3:c.158C>G, XM_011529062.3:c.158C>T, XM_011529062.2:c.158C>G, XM_011529062.2:c.158C>T, XM_011529062.1:c.158C>G, XM_011529062.1:c.158C>T, XM_011529065.3:c.158C>G, XM_011529065.3:c.158C>T, XM_011529065.2:c.158C>G, XM_011529065.2:c.158C>T, XM_011529065.1:c.158C>G, XM_011529065.1:c.158C>T, XM_017028087.3:c.95C>G, XM_017028087.3:c.95C>T, XM_017028087.2:c.95C>G, XM_017028087.2:c.95C>T, XM_017028087.1:c.95C>G, XM_017028087.1:c.95C>T, XM_011529063.3:c.158C>G, XM_011529063.3:c.158C>T, XM_011529063.2:c.158C>G, XM_011529063.2:c.158C>T, XM_011529063.1:c.158C>G, XM_011529063.1:c.158C>T, XM_011529064.3:c.158C>G, XM_011529064.3:c.158C>T, XM_011529064.2:c.158C>G, XM_011529064.2:c.158C>T, XM_011529064.1:c.158C>G, XM_011529064.1:c.158C>T, XM_047440529.1:c.95C>G, XM_047440529.1:c.95C>T, XM_047440528.1:c.158C>G, XM_047440528.1:c.158C>T, NP_110404.1:p.Ala32Gly, NP_110404.1:p.Ala32Val, XP_011527363.1:p.Ala35Gly, XP_011527363.1:p.Ala35Val, XP_011527362.1:p.Ala53Gly, XP_011527362.1:p.Ala53Val, XP_011527364.1:p.Ala53Gly, XP_011527364.1:p.Ala53Val, XP_011527367.1:p.Ala53Gly, XP_011527367.1:p.Ala53Val, XP_016883576.1:p.Ala32Gly, XP_016883576.1:p.Ala32Val, XP_011527365.1:p.Ala53Gly, XP_011527365.1:p.Ala53Val, XP_011527366.1:p.Ala53Gly, XP_011527366.1:p.Ala53Val, XP_047296485.1:p.Ala32Gly, XP_047296485.1:p.Ala32Val, XP_047296484.1:p.Ala53Gly, XP_047296484.1:p.Ala53Val

Select item 14888329543.

rs1488832954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46725949 (GRCh38)
20:45354588 (GRCh37)
Canonical SPDI:: NC_000020.11:46725948:G:A
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.46725949G>A, NC_000020.10:g.45354588G>A, NG_016284.1:g.21310G>A, NM_030777.4:c.913G>A, NM_030777.3:c.913G>A, XM_011529061.3:c.922G>A, XM_011529061.2:c.922G>A, XM_011529061.1:c.922G>A, XM_011529060.3:c.976G>A, XM_011529060.2:c.976G>A, XM_011529060.1:c.976G>A, XM_011529062.3:c.976G>A, XM_011529062.2:c.976G>A, XM_011529062.1:c.976G>A, XM_011529065.3:c.976G>A, XM_011529065.2:c.976G>A, XM_011529065.1:c.976G>A, XM_017028087.3:c.913G>A, XM_017028087.2:c.913G>A, XM_017028087.1:c.913G>A, XM_011529063.3:c.976G>A, XM_011529063.2:c.976G>A, XM_011529063.1:c.976G>A, XM_011529064.3:c.976G>A, XM_011529064.2:c.976G>A, XM_011529064.1:c.976G>A, XM_047440529.1:c.913G>A, XM_047440528.1:c.976G>A, NP_110404.1:p.Ala305Thr, XP_011527363.1:p.Ala308Thr, XP_011527362.1:p.Ala326Thr, XP_011527364.1:p.Ala326Thr, XP_011527367.1:p.Ala326Thr, XP_016883576.1:p.Ala305Thr, XP_011527365.1:p.Ala326Thr, XP_011527366.1:p.Ala326Thr, XP_047296485.1:p.Ala305Thr, XP_047296484.1:p.Ala326Thr

Select item 14869037484.

rs1486903748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:46725858 (GRCh38)
20:45354497 (GRCh37)
Canonical SPDI:: NC_000020.11:46725857:G:C
Gene:: SLC2A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46725858G>C, NC_000020.10:g.45354497G>C, NG_016284.1:g.21219G>C, NM_030777.4:c.822G>C, NM_030777.3:c.822G>C, XM_011529061.3:c.831G>C, XM_011529061.2:c.831G>C, XM_011529061.1:c.831G>C, XM_011529060.3:c.885G>C, XM_011529060.2:c.885G>C, XM_011529060.1:c.885G>C, XM_011529062.3:c.885G>C, XM_011529062.2:c.885G>C, XM_011529062.1:c.885G>C, XM_011529065.3:c.885G>C, XM_011529065.2:c.885G>C, XM_011529065.1:c.885G>C, XM_017028087.3:c.822G>C, XM_017028087.2:c.822G>C, XM_017028087.1:c.822G>C, XM_011529063.3:c.885G>C, XM_011529063.2:c.885G>C, XM_011529063.1:c.885G>C, XM_011529064.3:c.885G>C, XM_011529064.2:c.885G>C, XM_011529064.1:c.885G>C, XM_047440529.1:c.822G>C, XM_047440528.1:c.885G>C

Select item 14846132415.

rs1484613241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46725160 (GRCh38)
20:45353799 (GRCh37)
Canonical SPDI:: NC_000020.11:46725159:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46725160C>T, NC_000020.10:g.45353799C>T, NG_016284.1:g.20521C>T, NM_030777.4:c.124C>T, NM_030777.3:c.124C>T, XM_011529061.3:c.133C>T, XM_011529061.2:c.133C>T, XM_011529061.1:c.133C>T, XM_011529060.3:c.187C>T, XM_011529060.2:c.187C>T, XM_011529060.1:c.187C>T, XM_011529062.3:c.187C>T, XM_011529062.2:c.187C>T, XM_011529062.1:c.187C>T, XM_011529065.3:c.187C>T, XM_011529065.2:c.187C>T, XM_011529065.1:c.187C>T, XM_017028087.3:c.124C>T, XM_017028087.2:c.124C>T, XM_017028087.1:c.124C>T, XM_011529063.3:c.187C>T, XM_011529063.2:c.187C>T, XM_011529063.1:c.187C>T, XM_011529064.3:c.187C>T, XM_011529064.2:c.187C>T, XM_011529064.1:c.187C>T, XM_047440529.1:c.124C>T, XM_047440528.1:c.187C>T

Select item 14836336616.

rs1483633661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:46726882 (GRCh38)
20:45355521 (GRCh37)
Canonical SPDI:: NC_000020.11:46726881:G:C
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.46726882G>C, NC_000020.10:g.45355521G>C, NG_016284.1:g.22243G>C, NM_030777.4:c.1307G>C, NM_030777.3:c.1307G>C, XM_011529061.3:c.1316G>C, XM_011529061.2:c.1316G>C, XM_011529061.1:c.1316G>C, XM_011529060.3:c.1370G>C, XM_011529060.2:c.1370G>C, XM_011529060.1:c.1370G>C, XM_011529062.3:c.1419G>C, XM_011529062.2:c.1419G>C, XM_011529062.1:c.1419G>C, XM_011529065.3:c.1370G>C, XM_011529065.2:c.1370G>C, XM_011529065.1:c.1370G>C, XM_017028087.3:c.1307G>C, XM_017028087.2:c.1307G>C, XM_017028087.1:c.1307G>C, XM_011529063.3:c.1370G>C, XM_011529063.2:c.1370G>C, XM_011529063.1:c.1370G>C, XM_011529064.3:c.1419G>C, XM_011529064.2:c.1419G>C, XM_011529064.1:c.1419G>C, XM_047440529.1:c.1356G>C, XM_047440528.1:c.1419G>C, NP_110404.1:p.Ser436Thr, XP_011527363.1:p.Ser439Thr, XP_011527362.1:p.Ser457Thr, XP_011527364.1:p.Gln473His, XP_011527367.1:p.Ser457Thr, XP_016883576.1:p.Ser436Thr, XP_011527365.1:p.Ser457Thr, XP_011527366.1:p.Gln473His, XP_047296485.1:p.Gln452His, XP_047296484.1:p.Gln473His

Select item 14815847047.

rs1481584704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46726182 (GRCh38)
20:45354821 (GRCh37)
Canonical SPDI:: NC_000020.11:46726181:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46726182C>T, NC_000020.10:g.45354821C>T, NG_016284.1:g.21543C>T, NM_030777.4:c.1146C>T, NM_030777.3:c.1146C>T, XM_011529061.3:c.1155C>T, XM_011529061.2:c.1155C>T, XM_011529061.1:c.1155C>T, XM_011529060.3:c.1209C>T, XM_011529060.2:c.1209C>T, XM_011529060.1:c.1209C>T, XM_011529062.3:c.1209C>T, XM_011529062.2:c.1209C>T, XM_011529062.1:c.1209C>T, XM_011529065.3:c.1209C>T, XM_011529065.2:c.1209C>T, XM_011529065.1:c.1209C>T, XM_017028087.3:c.1146C>T, XM_017028087.2:c.1146C>T, XM_017028087.1:c.1146C>T, XM_011529063.3:c.1209C>T, XM_011529063.2:c.1209C>T, XM_011529063.1:c.1209C>T, XM_011529064.3:c.1209C>T, XM_011529064.2:c.1209C>T, XM_011529064.1:c.1209C>T, XM_047440529.1:c.1146C>T, XM_047440528.1:c.1209C>T

Select item 14799327788.

rs1479932778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:46726167 (GRCh38)
20:45354806 (GRCh37)
Canonical SPDI:: NC_000020.11:46726166:T:C
Gene:: SLC2A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46726167T>C, NC_000020.10:g.45354806T>C, NG_016284.1:g.21528T>C, NM_030777.4:c.1131T>C, NM_030777.3:c.1131T>C, XM_011529061.3:c.1140T>C, XM_011529061.2:c.1140T>C, XM_011529061.1:c.1140T>C, XM_011529060.3:c.1194T>C, XM_011529060.2:c.1194T>C, XM_011529060.1:c.1194T>C, XM_011529062.3:c.1194T>C, XM_011529062.2:c.1194T>C, XM_011529062.1:c.1194T>C, XM_011529065.3:c.1194T>C, XM_011529065.2:c.1194T>C, XM_011529065.1:c.1194T>C, XM_017028087.3:c.1131T>C, XM_017028087.2:c.1131T>C, XM_017028087.1:c.1131T>C, XM_011529063.3:c.1194T>C, XM_011529063.2:c.1194T>C, XM_011529063.1:c.1194T>C, XM_011529064.3:c.1194T>C, XM_011529064.2:c.1194T>C, XM_011529064.1:c.1194T>C, XM_047440529.1:c.1131T>C, XM_047440528.1:c.1194T>C

Select item 14741051309.

rs1474105130 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:46726093 (GRCh38)
20:45354732 (GRCh37)
Canonical SPDI:: NC_000020.11:46726088:CTCTCT:CTCT
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46726089CT[2], NC_000020.10:g.45354728CT[2], NG_016284.1:g.21450CT[2], NM_030777.4:c.1057_1058del, NM_030777.3:c.1057_1058del, XM_011529061.3:c.1066_1067del, XM_011529061.2:c.1066_1067del, XM_011529061.1:c.1066_1067del, XM_011529060.3:c.1120_1121del, XM_011529060.2:c.1120_1121del, XM_011529060.1:c.1120_1121del, XM_011529062.3:c.1120_1121del, XM_011529062.2:c.1120_1121del, XM_011529062.1:c.1120_1121del, XM_011529065.3:c.1120_1121del, XM_011529065.2:c.1120_1121del, XM_011529065.1:c.1120_1121del, XM_017028087.3:c.1057_1058del, XM_017028087.2:c.1057_1058del, XM_017028087.1:c.1057_1058del, XM_011529063.3:c.1120_1121del, XM_011529063.2:c.1120_1121del, XM_011529063.1:c.1120_1121del, XM_011529064.3:c.1120_1121del, XM_011529064.2:c.1120_1121del, XM_011529064.1:c.1120_1121del, XM_047440529.1:c.1057_1058del, XM_047440528.1:c.1120_1121del, NP_110404.1:p.Leu353fs, XP_011527363.1:p.Leu356fs, XP_011527362.1:p.Leu374fs, XP_011527364.1:p.Leu374fs, XP_011527367.1:p.Leu374fs, XP_016883576.1:p.Leu353fs, XP_011527365.1:p.Leu374fs, XP_011527366.1:p.Leu374fs, XP_047296485.1:p.Leu353fs, XP_047296484.1:p.Leu374fs

Select item 147278467510.

rs1472784675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46725677 (GRCh38)
20:45354316 (GRCh37)
Canonical SPDI:: NC_000020.11:46725676:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.46725677C>T, NC_000020.10:g.45354316C>T, NG_016284.1:g.21038C>T, NM_030777.4:c.641C>T, NM_030777.3:c.641C>T, XM_011529061.3:c.650C>T, XM_011529061.2:c.650C>T, XM_011529061.1:c.650C>T, XM_011529060.3:c.704C>T, XM_011529060.2:c.704C>T, XM_011529060.1:c.704C>T, XM_011529062.3:c.704C>T, XM_011529062.2:c.704C>T, XM_011529062.1:c.704C>T, XM_011529065.3:c.704C>T, XM_011529065.2:c.704C>T, XM_011529065.1:c.704C>T, XM_017028087.3:c.641C>T, XM_017028087.2:c.641C>T, XM_017028087.1:c.641C>T, XM_011529063.3:c.704C>T, XM_011529063.2:c.704C>T, XM_011529063.1:c.704C>T, XM_011529064.3:c.704C>T, XM_011529064.2:c.704C>T, XM_011529064.1:c.704C>T, XM_047440529.1:c.641C>T, XM_047440528.1:c.704C>T, NP_110404.1:p.Pro214Leu, XP_011527363.1:p.Pro217Leu, XP_011527362.1:p.Pro235Leu, XP_011527364.1:p.Pro235Leu, XP_011527367.1:p.Pro235Leu, XP_016883576.1:p.Pro214Leu, XP_011527365.1:p.Pro235Leu, XP_011527366.1:p.Pro235Leu, XP_047296485.1:p.Pro214Leu, XP_047296484.1:p.Pro235Leu

Select item 147194169511.

rs1471941695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46708507 (GRCh38)
20:45337146 (GRCh37)
Canonical SPDI:: NC_000020.11:46708506:A:G
Gene:: SLC2A10 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.46708507A>G, NC_000020.10:g.45337146A>G, NG_016284.1:g.3868A>G, XM_011529060.3:c.21A>G, XM_011529060.2:c.21A>G, XM_011529060.1:c.21A>G, XM_011529062.3:c.21A>G, XM_011529062.2:c.21A>G, XM_011529062.1:c.21A>G, XM_011529065.3:c.21A>G, XM_011529065.2:c.21A>G, XM_011529065.1:c.21A>G, XM_011529063.3:c.21A>G, XM_011529063.2:c.21A>G, XM_011529063.1:c.21A>G, XM_011529064.3:c.21A>G, XM_011529064.2:c.21A>G, XM_011529064.1:c.21A>G, XM_047440528.1:c.21A>G

Select item 147127528912.

rs1471275289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:46726109 (GRCh38)
20:45354748 (GRCh37)
Canonical SPDI:: NC_000020.11:46726108:G:A,NC_000020.11:46726108:G:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.46726109G>A, NC_000020.11:g.46726109G>T, NC_000020.10:g.45354748G>A, NC_000020.10:g.45354748G>T, NG_016284.1:g.21470G>A, NG_016284.1:g.21470G>T, NM_030777.4:c.1073G>A, NM_030777.4:c.1073G>T, NM_030777.3:c.1073G>A, NM_030777.3:c.1073G>T, XM_011529061.3:c.1082G>A, XM_011529061.3:c.1082G>T, XM_011529061.2:c.1082G>A, XM_011529061.2:c.1082G>T, XM_011529061.1:c.1082G>A, XM_011529061.1:c.1082G>T, XM_011529060.3:c.1136G>A, XM_011529060.3:c.1136G>T, XM_011529060.2:c.1136G>A, XM_011529060.2:c.1136G>T, XM_011529060.1:c.1136G>A, XM_011529060.1:c.1136G>T, XM_011529062.3:c.1136G>A, XM_011529062.3:c.1136G>T, XM_011529062.2:c.1136G>A, XM_011529062.2:c.1136G>T, XM_011529062.1:c.1136G>A, XM_011529062.1:c.1136G>T, XM_011529065.3:c.1136G>A, XM_011529065.3:c.1136G>T, XM_011529065.2:c.1136G>A, XM_011529065.2:c.1136G>T, XM_011529065.1:c.1136G>A, XM_011529065.1:c.1136G>T, XM_017028087.3:c.1073G>A, XM_017028087.3:c.1073G>T, XM_017028087.2:c.1073G>A, XM_017028087.2:c.1073G>T, XM_017028087.1:c.1073G>A, XM_017028087.1:c.1073G>T, XM_011529063.3:c.1136G>A, XM_011529063.3:c.1136G>T, XM_011529063.2:c.1136G>A, XM_011529063.2:c.1136G>T, XM_011529063.1:c.1136G>A, XM_011529063.1:c.1136G>T, XM_011529064.3:c.1136G>A, XM_011529064.3:c.1136G>T, XM_011529064.2:c.1136G>A, XM_011529064.2:c.1136G>T, XM_011529064.1:c.1136G>A, XM_011529064.1:c.1136G>T, XM_047440529.1:c.1073G>A, XM_047440529.1:c.1073G>T, XM_047440528.1:c.1136G>A, XM_047440528.1:c.1136G>T, NP_110404.1:p.Arg358Lys, NP_110404.1:p.Arg358Met, XP_011527363.1:p.Arg361Lys, XP_011527363.1:p.Arg361Met, XP_011527362.1:p.Arg379Lys, XP_011527362.1:p.Arg379Met, XP_011527364.1:p.Arg379Lys, XP_011527364.1:p.Arg379Met, XP_011527367.1:p.Arg379Lys, XP_011527367.1:p.Arg379Met, XP_016883576.1:p.Arg358Lys, XP_016883576.1:p.Arg358Met, XP_011527365.1:p.Arg379Lys, XP_011527365.1:p.Arg379Met, XP_011527366.1:p.Arg379Lys, XP_011527366.1:p.Arg379Met, XP_047296485.1:p.Arg358Lys, XP_047296485.1:p.Arg358Met, XP_047296484.1:p.Arg379Lys, XP_047296484.1:p.Arg379Met

Select item 146945600713.

rs1469456007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46725947 (GRCh38)
20:45354586 (GRCh37)
Canonical SPDI:: NC_000020.11:46725946:G:A
Gene:: SLC2A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.46725947G>A, NC_000020.10:g.45354586G>A, NG_016284.1:g.21308G>A, NM_030777.4:c.911G>A, NM_030777.3:c.911G>A, XM_011529061.3:c.920G>A, XM_011529061.2:c.920G>A, XM_011529061.1:c.920G>A, XM_011529060.3:c.974G>A, XM_011529060.2:c.974G>A, XM_011529060.1:c.974G>A, XM_011529062.3:c.974G>A, XM_011529062.2:c.974G>A, XM_011529062.1:c.974G>A, XM_011529065.3:c.974G>A, XM_011529065.2:c.974G>A, XM_011529065.1:c.974G>A, XM_017028087.3:c.911G>A, XM_017028087.2:c.911G>A, XM_017028087.1:c.911G>A, XM_011529063.3:c.974G>A, XM_011529063.2:c.974G>A, XM_011529063.1:c.974G>A, XM_011529064.3:c.974G>A, XM_011529064.2:c.974G>A, XM_011529064.1:c.974G>A, XM_047440529.1:c.911G>A, XM_047440528.1:c.974G>A, NP_110404.1:p.Cys304Tyr, XP_011527363.1:p.Cys307Tyr, XP_011527362.1:p.Cys325Tyr, XP_011527364.1:p.Cys325Tyr, XP_011527367.1:p.Cys325Tyr, XP_016883576.1:p.Cys304Tyr, XP_011527365.1:p.Cys325Tyr, XP_011527366.1:p.Cys325Tyr, XP_047296485.1:p.Cys304Tyr, XP_047296484.1:p.Cys325Tyr

Select item 146822778114.

rs1468227781 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 20:46726859 (GRCh38)
20:45355499 (GRCh37)
Canonical SPDI:: NC_000020.11:46726859::TTTT
Gene:: SLC2A10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.46726859_46726860insTTTT, NC_000020.10:g.45355498_45355499insTTTT, NG_016284.1:g.22220_22221insTTTT, XM_011529062.3:c.1396_1397insTTTT, XM_011529062.2:c.1396_1397insTTTT, XM_011529062.1:c.1396_1397insTTTT, XM_011529064.3:c.1396_1397insTTTT, XM_011529064.2:c.1396_1397insTTTT, XM_011529064.1:c.1396_1397insTTTT, XM_047440529.1:c.1333_1334insTTTT, XM_047440528.1:c.1396_1397insTTTT, XP_011527364.1:p.Pro466fs, XP_011527366.1:p.Pro466fs, XP_047296485.1:p.Pro445fs, XP_047296484.1:p.Pro466fs

Select item 146694569515.

rs1466945695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46726119 (GRCh38)
20:45354758 (GRCh37)
Canonical SPDI:: NC_000020.11:46726118:G:A
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.46726119G>A, NC_000020.10:g.45354758G>A, NG_016284.1:g.21480G>A, NM_030777.4:c.1083G>A, NM_030777.3:c.1083G>A, XM_011529061.3:c.1092G>A, XM_011529061.2:c.1092G>A, XM_011529061.1:c.1092G>A, XM_011529060.3:c.1146G>A, XM_011529060.2:c.1146G>A, XM_011529060.1:c.1146G>A, XM_011529062.3:c.1146G>A, XM_011529062.2:c.1146G>A, XM_011529062.1:c.1146G>A, XM_011529065.3:c.1146G>A, XM_011529065.2:c.1146G>A, XM_011529065.1:c.1146G>A, XM_017028087.3:c.1083G>A, XM_017028087.2:c.1083G>A, XM_017028087.1:c.1083G>A, XM_011529063.3:c.1146G>A, XM_011529063.2:c.1146G>A, XM_011529063.1:c.1146G>A, XM_011529064.3:c.1146G>A, XM_011529064.2:c.1146G>A, XM_011529064.1:c.1146G>A, XM_047440529.1:c.1083G>A, XM_047440528.1:c.1146G>A

Select item 146376599616.

rs1463765996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:46725745 (GRCh38)
20:45354384 (GRCh37)
Canonical SPDI:: NC_000020.11:46725744:G:A,NC_000020.11:46725744:G:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46725745G>A, NC_000020.11:g.46725745G>T, NC_000020.10:g.45354384G>A, NC_000020.10:g.45354384G>T, NG_016284.1:g.21106G>A, NG_016284.1:g.21106G>T, NM_030777.4:c.709G>A, NM_030777.4:c.709G>T, NM_030777.3:c.709G>A, NM_030777.3:c.709G>T, XM_011529061.3:c.718G>A, XM_011529061.3:c.718G>T, XM_011529061.2:c.718G>A, XM_011529061.2:c.718G>T, XM_011529061.1:c.718G>A, XM_011529061.1:c.718G>T, XM_011529060.3:c.772G>A, XM_011529060.3:c.772G>T, XM_011529060.2:c.772G>A, XM_011529060.2:c.772G>T, XM_011529060.1:c.772G>A, XM_011529060.1:c.772G>T, XM_011529062.3:c.772G>A, XM_011529062.3:c.772G>T, XM_011529062.2:c.772G>A, XM_011529062.2:c.772G>T, XM_011529062.1:c.772G>A, XM_011529062.1:c.772G>T, XM_011529065.3:c.772G>A, XM_011529065.3:c.772G>T, XM_011529065.2:c.772G>A, XM_011529065.2:c.772G>T, XM_011529065.1:c.772G>A, XM_011529065.1:c.772G>T, XM_017028087.3:c.709G>A, XM_017028087.3:c.709G>T, XM_017028087.2:c.709G>A, XM_017028087.2:c.709G>T, XM_017028087.1:c.709G>A, XM_017028087.1:c.709G>T, XM_011529063.3:c.772G>A, XM_011529063.3:c.772G>T, XM_011529063.2:c.772G>A, XM_011529063.2:c.772G>T, XM_011529063.1:c.772G>A, XM_011529063.1:c.772G>T, XM_011529064.3:c.772G>A, XM_011529064.3:c.772G>T, XM_011529064.2:c.772G>A, XM_011529064.2:c.772G>T, XM_011529064.1:c.772G>A, XM_011529064.1:c.772G>T, XM_047440529.1:c.709G>A, XM_047440529.1:c.709G>T, XM_047440528.1:c.772G>A, XM_047440528.1:c.772G>T, NP_110404.1:p.Gly237Arg, NP_110404.1:p.Gly237Trp, XP_011527363.1:p.Gly240Arg, XP_011527363.1:p.Gly240Trp, XP_011527362.1:p.Gly258Arg, XP_011527362.1:p.Gly258Trp, XP_011527364.1:p.Gly258Arg, XP_011527364.1:p.Gly258Trp, XP_011527367.1:p.Gly258Arg, XP_011527367.1:p.Gly258Trp, XP_016883576.1:p.Gly237Arg, XP_016883576.1:p.Gly237Trp, XP_011527365.1:p.Gly258Arg, XP_011527365.1:p.Gly258Trp, XP_011527366.1:p.Gly258Arg, XP_011527366.1:p.Gly258Trp, XP_047296485.1:p.Gly237Arg, XP_047296485.1:p.Gly237Trp, XP_047296484.1:p.Gly258Arg, XP_047296484.1:p.Gly258Trp

Select item 146203474417.

rs1462034744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:46725135 (GRCh38)
20:45353774 (GRCh37)
Canonical SPDI:: NC_000020.11:46725134:G:C
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.46725135G>C, NC_000020.10:g.45353774G>C, NG_016284.1:g.20496G>C, NM_030777.4:c.99G>C, NM_030777.3:c.99G>C, XM_011529061.3:c.108G>C, XM_011529061.2:c.108G>C, XM_011529061.1:c.108G>C, XM_011529060.3:c.162G>C, XM_011529060.2:c.162G>C, XM_011529060.1:c.162G>C, XM_011529062.3:c.162G>C, XM_011529062.2:c.162G>C, XM_011529062.1:c.162G>C, XM_011529065.3:c.162G>C, XM_011529065.2:c.162G>C, XM_011529065.1:c.162G>C, XM_017028087.3:c.99G>C, XM_017028087.2:c.99G>C, XM_017028087.1:c.99G>C, XM_011529063.3:c.162G>C, XM_011529063.2:c.162G>C, XM_011529063.1:c.162G>C, XM_011529064.3:c.162G>C, XM_011529064.2:c.162G>C, XM_011529064.1:c.162G>C, XM_047440529.1:c.99G>C, XM_047440528.1:c.162G>C

Select item 146130563618.

rs1461305636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46726831 (GRCh38)
20:45355470 (GRCh37)
Canonical SPDI:: NC_000020.11:46726830:C:T
Gene:: SLC2A10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46726831C>T, NC_000020.10:g.45355470C>T, NG_016284.1:g.22192C>T, XM_011529062.3:c.1368C>T, XM_011529062.2:c.1368C>T, XM_011529062.1:c.1368C>T, XM_011529064.3:c.1368C>T, XM_011529064.2:c.1368C>T, XM_011529064.1:c.1368C>T, XM_047440529.1:c.1305C>T, XM_047440528.1:c.1368C>T

Select item 146024973419.

rs1460249734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:46725921 (GRCh38)
20:45354560 (GRCh37)
Canonical SPDI:: NC_000020.11:46725920:C:A
Gene:: SLC2A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.46725921C>A, NC_000020.10:g.45354560C>A, NG_016284.1:g.21282C>A, NM_030777.4:c.885C>A, NM_030777.3:c.885C>A, XM_011529061.3:c.894C>A, XM_011529061.2:c.894C>A, XM_011529061.1:c.894C>A, XM_011529060.3:c.948C>A, XM_011529060.2:c.948C>A, XM_011529060.1:c.948C>A, XM_011529062.3:c.948C>A, XM_011529062.2:c.948C>A, XM_011529062.1:c.948C>A, XM_011529065.3:c.948C>A, XM_011529065.2:c.948C>A, XM_011529065.1:c.948C>A, XM_017028087.3:c.885C>A, XM_017028087.2:c.885C>A, XM_017028087.1:c.885C>A, XM_011529063.3:c.948C>A, XM_011529063.2:c.948C>A, XM_011529063.1:c.948C>A, XM_011529064.3:c.948C>A, XM_011529064.2:c.948C>A, XM_011529064.1:c.948C>A, XM_047440529.1:c.885C>A, XM_047440528.1:c.948C>A

Select item 146013644820.

rs1460136448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46726965 (GRCh38)
20:45355604 (GRCh37)
Canonical SPDI:: NC_000020.11:46726964:C:T
Gene:: SLC2A10 (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=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.46726965C>T, NC_000020.10:g.45355604C>T, NG_016284.1:g.22326C>T, NM_030777.4:c.1390C>T, NM_030777.3:c.1390C>T, XM_011529061.3:c.1399C>T, XM_011529061.2:c.1399C>T, XM_011529061.1:c.1399C>T, XM_011529060.3:c.1453C>T, XM_011529060.2:c.1453C>T, XM_011529060.1:c.1453C>T, XM_011529062.3:c.1502C>T, XM_011529062.2:c.1502C>T, XM_011529062.1:c.1502C>T, XM_011529065.3:c.1453C>T, XM_011529065.2:c.1453C>T, XM_011529065.1:c.1453C>T, XM_017028087.3:c.1390C>T, XM_017028087.2:c.1390C>T, XM_017028087.1:c.1390C>T, XM_011529063.3:c.1453C>T, XM_011529063.2:c.1453C>T, XM_011529063.1:c.1453C>T, XM_011529064.3:c.1502C>T, XM_011529064.2:c.1502C>T, XM_011529064.1:c.1502C>T, XM_047440529.1:c.1439C>T, XM_047440528.1:c.1502C>T, NP_110404.1:p.Leu464Phe, XP_011527363.1:p.Leu467Phe, XP_011527362.1:p.Leu485Phe, XP_011527364.1:p.Pro501Leu, XP_011527367.1:p.Leu485Phe, XP_016883576.1:p.Leu464Phe, XP_011527365.1:p.Leu485Phe, XP_011527366.1:p.Pro501Leu, XP_047296485.1:p.Pro480Leu, XP_047296484.1:p.Pro501Leu

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