SNP Links for Protein (Select 767956580) - SNP

Links from Protein

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Select item 14896215221.

rs1489621522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:114643156 (GRCh38)
9:117405436 (GRCh37)
Canonical SPDI:: NC_000009.12:114643155:C:T
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_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)
HGVS:: NC_000009.12:g.114643156C>T, NC_000009.11:g.117405436C>T, NM_153045.4:c.872C>T, NM_153045.3:c.872C>T, XM_011518351.3:c.1073C>T, XM_011518351.2:c.1073C>T, XM_011518351.1:c.1073C>T, XM_011518350.2:c.1073C>T, XM_011518350.1:c.1073C>T, XM_011518352.2:c.1070C>T, XM_011518352.1:c.1070C>T, XM_011518353.2:c.962C>T, XM_011518353.1:c.962C>T, NM_001330760.2:c.875C>T, NM_001330760.1:c.875C>T, XM_011518354.2:c.812C>T, XM_011518354.1:c.812C>T, XM_011518355.2:c.809C>T, XM_011518355.1:c.809C>T, XM_017014430.2:c.698C>T, XM_017014430.1:c.698C>T, XR_001746225.2:n.1425C>T, XR_001746225.1:n.1260C>T, XR_001746226.2:n.1224C>T, XR_001746226.1:n.1089C>T, XM_024447441.1:c.872C>T, XM_047422924.1:c.875C>T, XM_047422923.1:c.959C>T, XM_047422925.1:c.872C>T, XM_047422927.1:c.764C>T, XM_047422928.1:c.761C>T, XM_047422929.1:c.701C>T, XR_007061260.1:n.1422C>T, NP_694590.2:p.Ala291Val, XP_011516653.1:p.Ala358Val, XP_011516652.1:p.Ala358Val, XP_011516654.1:p.Ala357Val, XP_011516655.1:p.Ala321Val, NP_001317689.1:p.Ala292Val, XP_011516656.1:p.Ala271Val, XP_011516657.1:p.Ala270Val, XP_016869919.1:p.Ala233Val, XP_024303209.1:p.Ala291Val, XP_047278880.1:p.Ala292Val, XP_047278879.1:p.Ala320Val, XP_047278881.1:p.Ala291Val, XP_047278883.1:p.Ala255Val, XP_047278884.1:p.Ala254Val, XP_047278885.1:p.Ala234Val

Select item 14880054542.

rs1488005454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114638569 (GRCh38)
9:117400849 (GRCh37)
Canonical SPDI:: NC_000009.12:114638568:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114638569A>G, NC_000009.11:g.117400849A>G, NM_153045.4:c.692A>G, NM_153045.3:c.692A>G, XM_011518351.3:c.893A>G, XM_011518351.2:c.893A>G, XM_011518351.1:c.893A>G, XM_011518350.2:c.893A>G, XM_011518350.1:c.893A>G, XM_011518352.2:c.890A>G, XM_011518352.1:c.890A>G, XM_011518353.2:c.782A>G, XM_011518353.1:c.782A>G, NM_001330760.2:c.695A>G, NM_001330760.1:c.695A>G, XM_011518354.2:c.632A>G, XM_011518354.1:c.632A>G, XM_011518355.2:c.629A>G, XM_011518355.1:c.629A>G, XM_017014430.2:c.518A>G, XM_017014430.1:c.518A>G, XR_001746225.2:n.1245A>G, XR_001746225.1:n.1080A>G, XR_001746226.2:n.1044A>G, XR_001746226.1:n.909A>G, XM_024447441.1:c.692A>G, XM_047422924.1:c.695A>G, XM_047422923.1:c.779A>G, XM_047422925.1:c.692A>G, XM_047422927.1:c.584A>G, XM_047422928.1:c.581A>G, XM_047422929.1:c.521A>G, XR_007061260.1:n.1242A>G, NP_694590.2:p.Gln231Arg, XP_011516653.1:p.Gln298Arg, XP_011516652.1:p.Gln298Arg, XP_011516654.1:p.Gln297Arg, XP_011516655.1:p.Gln261Arg, NP_001317689.1:p.Gln232Arg, XP_011516656.1:p.Gln211Arg, XP_011516657.1:p.Gln210Arg, XP_016869919.1:p.Gln173Arg, XP_024303209.1:p.Gln231Arg, XP_047278880.1:p.Gln232Arg, XP_047278879.1:p.Gln260Arg, XP_047278881.1:p.Gln231Arg, XP_047278883.1:p.Gln195Arg, XP_047278884.1:p.Gln194Arg, XP_047278885.1:p.Gln174Arg

Select item 14820970813.

rs1482097081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114633857 (GRCh38)
9:117396137 (GRCh37)
Canonical SPDI:: NC_000009.12:114633856:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000009.12:g.114633857A>G, NC_000009.11:g.117396137A>G, NM_153045.4:c.564A>G, NM_153045.3:c.564A>G, XM_011518351.3:c.765A>G, XM_011518351.2:c.765A>G, XM_011518351.1:c.765A>G, XM_011518350.2:c.765A>G, XM_011518350.1:c.765A>G, XM_011518352.2:c.762A>G, XM_011518352.1:c.762A>G, NM_001330760.2:c.567A>G, NM_001330760.1:c.567A>G, XM_011518354.2:c.504A>G, XM_011518354.1:c.504A>G, XM_011518355.2:c.501A>G, XM_011518355.1:c.501A>G, XR_001746225.2:n.1117A>G, XR_001746225.1:n.952A>G, XR_001746226.2:n.916A>G, XR_001746226.1:n.781A>G, XM_024447441.1:c.564A>G, XM_047422924.1:c.567A>G, XM_047422925.1:c.564A>G, XR_007061260.1:n.1114A>G

Select item 14819675924.

rs1481967592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114628225 (GRCh38)
9:117390505 (GRCh37)
Canonical SPDI:: NC_000009.12:114628224:T:C
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.114628225T>C, NC_000009.11:g.117390505T>C, NM_153045.4:c.449T>C, NM_153045.3:c.449T>C, XM_011518351.3:c.650T>C, XM_011518351.2:c.650T>C, XM_011518351.1:c.650T>C, XM_011518350.2:c.650T>C, XM_011518350.1:c.650T>C, XM_011518352.2:c.647T>C, XM_011518352.1:c.647T>C, XM_011518353.2:c.650T>C, XM_011518353.1:c.650T>C, NM_001330760.2:c.452T>C, NM_001330760.1:c.452T>C, XM_011518354.2:c.389T>C, XM_011518354.1:c.389T>C, XM_011518355.2:c.386T>C, XM_011518355.1:c.386T>C, XM_017014430.2:c.386T>C, XM_017014430.1:c.386T>C, XR_001746225.2:n.1002T>C, XR_001746225.1:n.837T>C, XR_001746226.2:n.801T>C, XR_001746226.1:n.666T>C, XM_024447441.1:c.449T>C, XM_047422924.1:c.452T>C, XM_047422923.1:c.647T>C, XM_047422925.1:c.449T>C, XM_047422927.1:c.452T>C, XM_047422928.1:c.449T>C, XM_047422929.1:c.389T>C, XR_007061260.1:n.999T>C, NP_694590.2:p.Leu150Pro, XP_011516653.1:p.Leu217Pro, XP_011516652.1:p.Leu217Pro, XP_011516654.1:p.Leu216Pro, XP_011516655.1:p.Leu217Pro, NP_001317689.1:p.Leu151Pro, XP_011516656.1:p.Leu130Pro, XP_011516657.1:p.Leu129Pro, XP_016869919.1:p.Leu129Pro, XP_024303209.1:p.Leu150Pro, XP_047278880.1:p.Leu151Pro, XP_047278879.1:p.Leu216Pro, XP_047278881.1:p.Leu150Pro, XP_047278883.1:p.Leu151Pro, XP_047278884.1:p.Leu150Pro, XP_047278885.1:p.Leu130Pro

Select item 14811188805.

rs1481118880 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 9:114622394 (GRCh38)
9:117384674 (GRCh37)
Canonical SPDI:: NC_000009.12:114622393:CCCCCC:CCCCC,NC_000009.12:114622393:CCCCCC:CCCCCCC
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000009.12:g.114622399del, NC_000009.12:g.114622399dup, NC_000009.11:g.117384679del, NC_000009.11:g.117384679dup, XM_011518351.3:c.203del, XM_011518351.3:c.203dup, XM_011518351.2:c.203del, XM_011518351.2:c.203dup, XM_011518351.1:c.203del, XM_011518351.1:c.203dup, XM_011518350.2:c.203del, XM_011518350.2:c.203dup, XM_011518350.1:c.203del, XM_011518350.1:c.203dup, XM_011518352.2:c.203del, XM_011518352.2:c.203dup, XM_011518352.1:c.203del, XM_011518352.1:c.203dup, XM_011518353.2:c.203del, XM_011518353.2:c.203dup, XM_011518353.1:c.203del, XM_011518353.1:c.203dup, XR_001746225.2:n.555del, XR_001746225.2:n.555dup, XR_001746225.1:n.390del, XR_001746225.1:n.390dup, XM_047422923.1:c.203del, XM_047422923.1:c.203dup, XR_007061260.1:n.555del, XR_007061260.1:n.555dup, XP_011516653.1:p.Pro68fs, XP_011516653.1:p.Asp69fs, XP_011516652.1:p.Pro68fs, XP_011516652.1:p.Asp69fs, XP_011516654.1:p.Pro68fs, XP_011516654.1:p.Asp69fs, XP_011516655.1:p.Pro68fs, XP_011516655.1:p.Asp69fs, XP_047278879.1:p.Pro68fs, XP_047278879.1:p.Asp69fs

Select item 14799316746.

rs1479931674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:114622449 (GRCh38)
9:117384729 (GRCh37)
Canonical SPDI:: NC_000009.12:114622448:C:T
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114622449C>T, NC_000009.11:g.117384729C>T, XM_011518351.3:c.253C>T, XM_011518351.2:c.253C>T, XM_011518351.1:c.253C>T, XM_011518350.2:c.253C>T, XM_011518350.1:c.253C>T, XM_011518352.2:c.253C>T, XM_011518352.1:c.253C>T, XM_011518353.2:c.253C>T, XM_011518353.1:c.253C>T, XR_001746225.2:n.605C>T, XR_001746225.1:n.440C>T, XM_047422923.1:c.253C>T, XR_007061260.1:n.605C>T, XP_011516653.1:p.Gln85Ter, XP_011516652.1:p.Gln85Ter, XP_011516654.1:p.Gln85Ter, XP_011516655.1:p.Gln85Ter, XP_047278879.1:p.Gln85Ter

Select item 14792180167.

rs1479218016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114633789 (GRCh38)
9:117396069 (GRCh37)
Canonical SPDI:: NC_000009.12:114633788:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114633789A>G, NC_000009.11:g.117396069A>G, NM_153045.4:c.496A>G, NM_153045.3:c.496A>G, XM_011518351.3:c.697A>G, XM_011518351.2:c.697A>G, XM_011518351.1:c.697A>G, XM_011518350.2:c.697A>G, XM_011518350.1:c.697A>G, XM_011518352.2:c.694A>G, XM_011518352.1:c.694A>G, NM_001330760.2:c.499A>G, NM_001330760.1:c.499A>G, XM_011518354.2:c.436A>G, XM_011518354.1:c.436A>G, XM_011518355.2:c.433A>G, XM_011518355.1:c.433A>G, XR_001746225.2:n.1049A>G, XR_001746225.1:n.884A>G, XR_001746226.2:n.848A>G, XR_001746226.1:n.713A>G, XM_024447441.1:c.496A>G, XM_047422924.1:c.499A>G, XM_047422925.1:c.496A>G, XR_007061260.1:n.1046A>G, NP_694590.2:p.Arg166Gly, XP_011516653.1:p.Arg233Gly, XP_011516652.1:p.Arg233Gly, XP_011516654.1:p.Arg232Gly, NP_001317689.1:p.Arg167Gly, XP_011516656.1:p.Arg146Gly, XP_011516657.1:p.Arg145Gly, XP_024303209.1:p.Arg166Gly, XP_047278880.1:p.Arg167Gly, XP_047278881.1:p.Arg166Gly

Select item 14786228668.

rs1478622866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114628160 (GRCh38)
9:117390440 (GRCh37)
Canonical SPDI:: NC_000009.12:114628159:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000009.12:g.114628160G>A, NC_000009.11:g.117390440G>A, NM_153045.4:c.384G>A, NM_153045.3:c.384G>A, XM_011518351.3:c.585G>A, XM_011518351.2:c.585G>A, XM_011518351.1:c.585G>A, XM_011518350.2:c.585G>A, XM_011518350.1:c.585G>A, XM_011518352.2:c.582G>A, XM_011518352.1:c.582G>A, XM_011518353.2:c.585G>A, XM_011518353.1:c.585G>A, NM_001330760.2:c.387G>A, NM_001330760.1:c.387G>A, XM_011518354.2:c.324G>A, XM_011518354.1:c.324G>A, XM_011518355.2:c.321G>A, XM_011518355.1:c.321G>A, XM_017014430.2:c.321G>A, XM_017014430.1:c.321G>A, XR_001746225.2:n.937G>A, XR_001746225.1:n.772G>A, XR_001746226.2:n.736G>A, XR_001746226.1:n.601G>A, XM_024447441.1:c.384G>A, XM_047422924.1:c.387G>A, XM_047422923.1:c.582G>A, XM_047422925.1:c.384G>A, XM_047422927.1:c.387G>A, XM_047422928.1:c.384G>A, XM_047422929.1:c.324G>A, XR_007061260.1:n.934G>A

Select item 14785191469.

rs1478519146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114638588 (GRCh38)
9:117400868 (GRCh37)
Canonical SPDI:: NC_000009.12:114638587:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114638588G>A, NC_000009.11:g.117400868G>A, NM_153045.4:c.711G>A, NM_153045.3:c.711G>A, XM_011518351.3:c.912G>A, XM_011518351.2:c.912G>A, XM_011518351.1:c.912G>A, XM_011518350.2:c.912G>A, XM_011518350.1:c.912G>A, XM_011518352.2:c.909G>A, XM_011518352.1:c.909G>A, XM_011518353.2:c.801G>A, XM_011518353.1:c.801G>A, NM_001330760.2:c.714G>A, NM_001330760.1:c.714G>A, XM_011518354.2:c.651G>A, XM_011518354.1:c.651G>A, XM_011518355.2:c.648G>A, XM_011518355.1:c.648G>A, XM_017014430.2:c.537G>A, XM_017014430.1:c.537G>A, XR_001746225.2:n.1264G>A, XR_001746225.1:n.1099G>A, XR_001746226.2:n.1063G>A, XR_001746226.1:n.928G>A, XM_024447441.1:c.711G>A, XM_047422924.1:c.714G>A, XM_047422923.1:c.798G>A, XM_047422925.1:c.711G>A, XM_047422927.1:c.603G>A, XM_047422928.1:c.600G>A, XM_047422929.1:c.540G>A, XR_007061260.1:n.1261G>A

Select item 147685536810.

rs1476855368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:114633802 (GRCh38)
9:117396082 (GRCh37)
Canonical SPDI:: NC_000009.12:114633801:C:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.114633802C>A, NC_000009.11:g.117396082C>A, NM_153045.4:c.509C>A, NM_153045.3:c.509C>A, XM_011518351.3:c.710C>A, XM_011518351.2:c.710C>A, XM_011518351.1:c.710C>A, XM_011518350.2:c.710C>A, XM_011518350.1:c.710C>A, XM_011518352.2:c.707C>A, XM_011518352.1:c.707C>A, NM_001330760.2:c.512C>A, NM_001330760.1:c.512C>A, XM_011518354.2:c.449C>A, XM_011518354.1:c.449C>A, XM_011518355.2:c.446C>A, XM_011518355.1:c.446C>A, XR_001746225.2:n.1062C>A, XR_001746225.1:n.897C>A, XR_001746226.2:n.861C>A, XR_001746226.1:n.726C>A, XM_024447441.1:c.509C>A, XM_047422924.1:c.512C>A, XM_047422925.1:c.509C>A, XR_007061260.1:n.1059C>A, NP_694590.2:p.Ala170Asp, XP_011516653.1:p.Ala237Asp, XP_011516652.1:p.Ala237Asp, XP_011516654.1:p.Ala236Asp, NP_001317689.1:p.Ala171Asp, XP_011516656.1:p.Ala150Asp, XP_011516657.1:p.Ala149Asp, XP_024303209.1:p.Ala170Asp, XP_047278880.1:p.Ala171Asp, XP_047278881.1:p.Ala170Asp

Select item 147502409111.

rs1475024091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:114624454 (GRCh38)
9:117386734 (GRCh37)
Canonical SPDI:: NC_000009.12:114624453:A:C,NC_000009.12:114624453:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.114624454A>C, NC_000009.12:g.114624454A>G, NC_000009.11:g.117386734A>C, NC_000009.11:g.117386734A>G, NM_153045.4:c.211A>C, NM_153045.4:c.211A>G, NM_153045.3:c.211A>C, NM_153045.3:c.211A>G, XM_011518351.3:c.409A>C, XM_011518351.3:c.409A>G, XM_011518351.2:c.409A>C, XM_011518351.2:c.409A>G, XM_011518351.1:c.409A>C, XM_011518351.1:c.409A>G, XM_011518350.2:c.409A>C, XM_011518350.2:c.409A>G, XM_011518350.1:c.409A>C, XM_011518350.1:c.409A>G, XM_011518352.2:c.409A>C, XM_011518352.2:c.409A>G, XM_011518352.1:c.409A>C, XM_011518352.1:c.409A>G, XM_011518353.2:c.409A>C, XM_011518353.2:c.409A>G, XM_011518353.1:c.409A>C, XM_011518353.1:c.409A>G, NM_001330760.2:c.211A>C, NM_001330760.2:c.211A>G, NM_001330760.1:c.211A>C, NM_001330760.1:c.211A>G, XM_011518354.2:c.148A>C, XM_011518354.2:c.148A>G, XM_011518354.1:c.148A>C, XM_011518354.1:c.148A>G, XM_011518355.2:c.148A>C, XM_011518355.2:c.148A>G, XM_011518355.1:c.148A>C, XM_011518355.1:c.148A>G, XM_017014430.2:c.148A>C, XM_017014430.2:c.148A>G, XM_017014430.1:c.148A>C, XM_017014430.1:c.148A>G, XR_001746225.2:n.761A>C, XR_001746225.2:n.761A>G, XR_001746225.1:n.596A>C, XR_001746225.1:n.596A>G, XR_001746226.2:n.563A>C, XR_001746226.2:n.563A>G, XR_001746226.1:n.428A>C, XR_001746226.1:n.428A>G, XM_024447441.1:c.211A>C, XM_024447441.1:c.211A>G, XM_047422924.1:c.211A>C, XM_047422924.1:c.211A>G, XM_047422923.1:c.409A>C, XM_047422923.1:c.409A>G, XM_047422925.1:c.211A>C, XM_047422925.1:c.211A>G, XM_047422927.1:c.211A>C, XM_047422927.1:c.211A>G, XM_047422928.1:c.211A>C, XM_047422928.1:c.211A>G, XM_047422929.1:c.148A>C, XM_047422929.1:c.148A>G, XR_007061260.1:n.761A>C, XR_007061260.1:n.761A>G, NP_694590.2:p.Ile71Leu, NP_694590.2:p.Ile71Val, XP_011516653.1:p.Ile137Leu, XP_011516653.1:p.Ile137Val, XP_011516652.1:p.Ile137Leu, XP_011516652.1:p.Ile137Val, XP_011516654.1:p.Ile137Leu, XP_011516654.1:p.Ile137Val, XP_011516655.1:p.Ile137Leu, XP_011516655.1:p.Ile137Val, NP_001317689.1:p.Ile71Leu, NP_001317689.1:p.Ile71Val, XP_011516656.1:p.Ile50Leu, XP_011516656.1:p.Ile50Val, XP_011516657.1:p.Ile50Leu, XP_011516657.1:p.Ile50Val, XP_016869919.1:p.Ile50Leu, XP_016869919.1:p.Ile50Val, XP_024303209.1:p.Ile71Leu, XP_024303209.1:p.Ile71Val, XP_047278880.1:p.Ile71Leu, XP_047278880.1:p.Ile71Val, XP_047278879.1:p.Ile137Leu, XP_047278879.1:p.Ile137Val, XP_047278881.1:p.Ile71Leu, XP_047278881.1:p.Ile71Val, XP_047278883.1:p.Ile71Leu, XP_047278883.1:p.Ile71Val, XP_047278884.1:p.Ile71Leu, XP_047278884.1:p.Ile71Val, XP_047278885.1:p.Ile50Leu, XP_047278885.1:p.Ile50Val

Select item 147288077912.

rs1472880779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114622436 (GRCh38)
9:117384716 (GRCh37)
Canonical SPDI:: NC_000009.12:114622435:T:C
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.114622436T>C, NC_000009.11:g.117384716T>C, XM_011518351.3:c.240T>C, XM_011518351.2:c.240T>C, XM_011518351.1:c.240T>C, XM_011518350.2:c.240T>C, XM_011518350.1:c.240T>C, XM_011518352.2:c.240T>C, XM_011518352.1:c.240T>C, XM_011518353.2:c.240T>C, XM_011518353.1:c.240T>C, XR_001746225.2:n.592T>C, XR_001746225.1:n.427T>C, XM_047422923.1:c.240T>C, XR_007061260.1:n.592T>C

Select item 146827718413.

rs1468277184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114622316 (GRCh38)
9:117384596 (GRCh37)
Canonical SPDI:: NC_000009.12:114622315:T:C
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.114622316T>C, NC_000009.11:g.117384596T>C, XM_011518351.3:c.120T>C, XM_011518351.2:c.120T>C, XM_011518351.1:c.120T>C, XM_011518350.2:c.120T>C, XM_011518350.1:c.120T>C, XM_011518352.2:c.120T>C, XM_011518352.1:c.120T>C, XM_011518353.2:c.120T>C, XM_011518353.1:c.120T>C, XR_001746225.2:n.472T>C, XR_001746225.1:n.307T>C, XM_047422923.1:c.120T>C, XR_007061260.1:n.472T>C

Select item 146628856814.

rs1466288568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114626990 (GRCh38)
9:117389270 (GRCh37)
Canonical SPDI:: NC_000009.12:114626989:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114626990G>A, NC_000009.11:g.117389270G>A, NM_153045.4:c.308G>A, NM_153045.3:c.308G>A, XM_011518351.3:c.509G>A, XM_011518351.2:c.509G>A, XM_011518351.1:c.509G>A, XM_011518350.2:c.509G>A, XM_011518350.1:c.509G>A, XM_011518352.2:c.506G>A, XM_011518352.1:c.506G>A, XM_011518353.2:c.509G>A, XM_011518353.1:c.509G>A, NM_001330760.2:c.311G>A, NM_001330760.1:c.311G>A, XM_011518354.2:c.248G>A, XM_011518354.1:c.248G>A, XM_011518355.2:c.245G>A, XM_011518355.1:c.245G>A, XM_017014430.2:c.245G>A, XM_017014430.1:c.245G>A, XR_001746225.2:n.861G>A, XR_001746225.1:n.696G>A, XR_001746226.2:n.660G>A, XR_001746226.1:n.525G>A, XM_024447441.1:c.308G>A, XM_047422924.1:c.311G>A, XM_047422923.1:c.506G>A, XM_047422925.1:c.308G>A, XM_047422927.1:c.311G>A, XM_047422928.1:c.308G>A, XM_047422929.1:c.248G>A, XR_007061260.1:n.858G>A, NP_694590.2:p.Arg103Gln, XP_011516653.1:p.Arg170Gln, XP_011516652.1:p.Arg170Gln, XP_011516654.1:p.Arg169Gln, XP_011516655.1:p.Arg170Gln, NP_001317689.1:p.Arg104Gln, XP_011516656.1:p.Arg83Gln, XP_011516657.1:p.Arg82Gln, XP_016869919.1:p.Arg82Gln, XP_024303209.1:p.Arg103Gln, XP_047278880.1:p.Arg104Gln, XP_047278879.1:p.Arg169Gln, XP_047278881.1:p.Arg103Gln, XP_047278883.1:p.Arg104Gln, XP_047278884.1:p.Arg103Gln, XP_047278885.1:p.Arg83Gln

Select item 145930305415.

rs1459303054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114617247 (GRCh38)
9:117379527 (GRCh37)
Canonical SPDI:: NC_000009.12:114617246:T:C
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.114617247T>C, NC_000009.11:g.117379527T>C, NM_153045.4:c.52T>C, NM_153045.3:c.52T>C, XM_011518351.3:c.52T>C, XM_011518351.2:c.52T>C, XM_011518351.1:c.52T>C, XM_011518350.2:c.52T>C, XM_011518350.1:c.52T>C, XM_011518352.2:c.52T>C, XM_011518352.1:c.52T>C, XM_011518353.2:c.52T>C, XM_011518353.1:c.52T>C, NM_001330760.2:c.52T>C, NM_001330760.1:c.52T>C, XM_011518354.2:c.-226T>C, XM_011518354.1:c.-226T>C, XM_011518355.2:c.-226T>C, XM_011518355.1:c.-226T>C, XM_017014430.2:c.-226T>C, XM_017014430.1:c.-226T>C, XR_001746225.2:n.404T>C, XR_001746225.1:n.239T>C, XR_001746226.2:n.404T>C, XR_001746226.1:n.269T>C, XM_024447441.1:c.52T>C, XM_047422924.1:c.52T>C, XM_047422923.1:c.52T>C, XM_047422925.1:c.52T>C, XM_047422927.1:c.52T>C, XM_047422928.1:c.52T>C, XM_047422929.1:c.-226T>C, XR_007061260.1:n.404T>C, NP_694590.2:p.Ser18Pro, XP_011516653.1:p.Ser18Pro, XP_011516652.1:p.Ser18Pro, XP_011516654.1:p.Ser18Pro, XP_011516655.1:p.Ser18Pro, NP_001317689.1:p.Ser18Pro, XP_024303209.1:p.Ser18Pro, XP_047278880.1:p.Ser18Pro, XP_047278879.1:p.Ser18Pro, XP_047278881.1:p.Ser18Pro, XP_047278883.1:p.Ser18Pro, XP_047278884.1:p.Ser18Pro

Select item 145663779016.

rs1456637790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114643137 (GRCh38)
9:117405417 (GRCh37)
Canonical SPDI:: NC_000009.12:114643136:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.114643137A>G, NC_000009.11:g.117405417A>G, NM_153045.4:c.853A>G, NM_153045.3:c.853A>G, XM_011518351.3:c.1054A>G, XM_011518351.2:c.1054A>G, XM_011518351.1:c.1054A>G, XM_011518350.2:c.1054A>G, XM_011518350.1:c.1054A>G, XM_011518352.2:c.1051A>G, XM_011518352.1:c.1051A>G, XM_011518353.2:c.943A>G, XM_011518353.1:c.943A>G, NM_001330760.2:c.856A>G, NM_001330760.1:c.856A>G, XM_011518354.2:c.793A>G, XM_011518354.1:c.793A>G, XM_011518355.2:c.790A>G, XM_011518355.1:c.790A>G, XM_017014430.2:c.679A>G, XM_017014430.1:c.679A>G, XR_001746225.2:n.1406A>G, XR_001746225.1:n.1241A>G, XR_001746226.2:n.1205A>G, XR_001746226.1:n.1070A>G, XM_024447441.1:c.853A>G, XM_047422924.1:c.856A>G, XM_047422923.1:c.940A>G, XM_047422925.1:c.853A>G, XM_047422927.1:c.745A>G, XM_047422928.1:c.742A>G, XM_047422929.1:c.682A>G, XR_007061260.1:n.1403A>G, NP_694590.2:p.Met285Val, XP_011516653.1:p.Met352Val, XP_011516652.1:p.Met352Val, XP_011516654.1:p.Met351Val, XP_011516655.1:p.Met315Val, NP_001317689.1:p.Met286Val, XP_011516656.1:p.Met265Val, XP_011516657.1:p.Met264Val, XP_016869919.1:p.Met227Val, XP_024303209.1:p.Met285Val, XP_047278880.1:p.Met286Val, XP_047278879.1:p.Met314Val, XP_047278881.1:p.Met285Val, XP_047278883.1:p.Met249Val, XP_047278884.1:p.Met248Val, XP_047278885.1:p.Met228Val

Select item 145388962817.

rs1453889628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:114624392 (GRCh38)
9:117386672 (GRCh37)
Canonical SPDI:: NC_000009.12:114624391:A:C,NC_000009.12:114624391:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.114624392A>C, NC_000009.12:g.114624392A>G, NC_000009.11:g.117386672A>C, NC_000009.11:g.117386672A>G, NM_153045.4:c.149A>C, NM_153045.4:c.149A>G, NM_153045.3:c.149A>C, NM_153045.3:c.149A>G, XM_011518351.3:c.347A>C, XM_011518351.3:c.347A>G, XM_011518351.2:c.347A>C, XM_011518351.2:c.347A>G, XM_011518351.1:c.347A>C, XM_011518351.1:c.347A>G, XM_011518350.2:c.347A>C, XM_011518350.2:c.347A>G, XM_011518350.1:c.347A>C, XM_011518350.1:c.347A>G, XM_011518352.2:c.347A>C, XM_011518352.2:c.347A>G, XM_011518352.1:c.347A>C, XM_011518352.1:c.347A>G, XM_011518353.2:c.347A>C, XM_011518353.2:c.347A>G, XM_011518353.1:c.347A>C, XM_011518353.1:c.347A>G, NM_001330760.2:c.149A>C, NM_001330760.2:c.149A>G, NM_001330760.1:c.149A>C, NM_001330760.1:c.149A>G, XM_011518354.2:c.86A>C, XM_011518354.2:c.86A>G, XM_011518354.1:c.86A>C, XM_011518354.1:c.86A>G, XM_011518355.2:c.86A>C, XM_011518355.2:c.86A>G, XM_011518355.1:c.86A>C, XM_011518355.1:c.86A>G, XM_017014430.2:c.86A>C, XM_017014430.2:c.86A>G, XM_017014430.1:c.86A>C, XM_017014430.1:c.86A>G, XR_001746225.2:n.699A>C, XR_001746225.2:n.699A>G, XR_001746225.1:n.534A>C, XR_001746225.1:n.534A>G, XR_001746226.2:n.501A>C, XR_001746226.2:n.501A>G, XR_001746226.1:n.366A>C, XR_001746226.1:n.366A>G, XM_024447441.1:c.149A>C, XM_024447441.1:c.149A>G, XM_047422924.1:c.149A>C, XM_047422924.1:c.149A>G, XM_047422923.1:c.347A>C, XM_047422923.1:c.347A>G, XM_047422925.1:c.149A>C, XM_047422925.1:c.149A>G, XM_047422927.1:c.149A>C, XM_047422927.1:c.149A>G, XM_047422928.1:c.149A>C, XM_047422928.1:c.149A>G, XM_047422929.1:c.86A>C, XM_047422929.1:c.86A>G, XR_007061260.1:n.699A>C, XR_007061260.1:n.699A>G, NP_694590.2:p.Asn50Thr, NP_694590.2:p.Asn50Ser, XP_011516653.1:p.Asn116Thr, XP_011516653.1:p.Asn116Ser, XP_011516652.1:p.Asn116Thr, XP_011516652.1:p.Asn116Ser, XP_011516654.1:p.Asn116Thr, XP_011516654.1:p.Asn116Ser, XP_011516655.1:p.Asn116Thr, XP_011516655.1:p.Asn116Ser, NP_001317689.1:p.Asn50Thr, NP_001317689.1:p.Asn50Ser, XP_011516656.1:p.Asn29Thr, XP_011516656.1:p.Asn29Ser, XP_011516657.1:p.Asn29Thr, XP_011516657.1:p.Asn29Ser, XP_016869919.1:p.Asn29Thr, XP_016869919.1:p.Asn29Ser, XP_024303209.1:p.Asn50Thr, XP_024303209.1:p.Asn50Ser, XP_047278880.1:p.Asn50Thr, XP_047278880.1:p.Asn50Ser, XP_047278879.1:p.Asn116Thr, XP_047278879.1:p.Asn116Ser, XP_047278881.1:p.Asn50Thr, XP_047278881.1:p.Asn50Ser, XP_047278883.1:p.Asn50Thr, XP_047278883.1:p.Asn50Ser, XP_047278884.1:p.Asn50Thr, XP_047278884.1:p.Asn50Ser, XP_047278885.1:p.Asn29Thr, XP_047278885.1:p.Asn29Ser

Select item 145144886018.

rs1451448860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:114624442 (GRCh38)
9:117386722 (GRCh37)
Canonical SPDI:: NC_000009.12:114624441:C:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114624442C>A, NC_000009.11:g.117386722C>A, NM_153045.4:c.199C>A, NM_153045.3:c.199C>A, XM_011518351.3:c.397C>A, XM_011518351.2:c.397C>A, XM_011518351.1:c.397C>A, XM_011518350.2:c.397C>A, XM_011518350.1:c.397C>A, XM_011518352.2:c.397C>A, XM_011518352.1:c.397C>A, XM_011518353.2:c.397C>A, XM_011518353.1:c.397C>A, NM_001330760.2:c.199C>A, NM_001330760.1:c.199C>A, XM_011518354.2:c.136C>A, XM_011518354.1:c.136C>A, XM_011518355.2:c.136C>A, XM_011518355.1:c.136C>A, XM_017014430.2:c.136C>A, XM_017014430.1:c.136C>A, XR_001746225.2:n.749C>A, XR_001746225.1:n.584C>A, XR_001746226.2:n.551C>A, XR_001746226.1:n.416C>A, XM_024447441.1:c.199C>A, XM_047422924.1:c.199C>A, XM_047422923.1:c.397C>A, XM_047422925.1:c.199C>A, XM_047422927.1:c.199C>A, XM_047422928.1:c.199C>A, XM_047422929.1:c.136C>A, XR_007061260.1:n.749C>A, NP_694590.2:p.Gln67Lys, XP_011516653.1:p.Gln133Lys, XP_011516652.1:p.Gln133Lys, XP_011516654.1:p.Gln133Lys, XP_011516655.1:p.Gln133Lys, NP_001317689.1:p.Gln67Lys, XP_011516656.1:p.Gln46Lys, XP_011516657.1:p.Gln46Lys, XP_016869919.1:p.Gln46Lys, XP_024303209.1:p.Gln67Lys, XP_047278880.1:p.Gln67Lys, XP_047278879.1:p.Gln133Lys, XP_047278881.1:p.Gln67Lys, XP_047278883.1:p.Gln67Lys, XP_047278884.1:p.Gln67Lys, XP_047278885.1:p.Gln46Lys

Select item 144928615519.

rs1449286155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114622377 (GRCh38)
9:117384657 (GRCh37)
Canonical SPDI:: NC_000009.12:114622376:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114622377G>A, NC_000009.11:g.117384657G>A, XM_011518351.3:c.181G>A, XM_011518351.2:c.181G>A, XM_011518351.1:c.181G>A, XM_011518350.2:c.181G>A, XM_011518350.1:c.181G>A, XM_011518352.2:c.181G>A, XM_011518352.1:c.181G>A, XM_011518353.2:c.181G>A, XM_011518353.1:c.181G>A, XR_001746225.2:n.533G>A, XR_001746225.1:n.368G>A, XM_047422923.1:c.181G>A, XR_007061260.1:n.533G>A, XP_011516653.1:p.Gly61Ser, XP_011516652.1:p.Gly61Ser, XP_011516654.1:p.Gly61Ser, XP_011516655.1:p.Gly61Ser, XP_047278879.1:p.Gly61Ser

Select item 144835695520.

rs1448356955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114627004 (GRCh38)
9:117389284 (GRCh37)
Canonical SPDI:: NC_000009.12:114627003:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114627004G>A, NC_000009.11:g.117389284G>A, NM_153045.4:c.322G>A, NM_153045.3:c.322G>A, XM_011518351.3:c.523G>A, XM_011518351.2:c.523G>A, XM_011518351.1:c.523G>A, XM_011518350.2:c.523G>A, XM_011518350.1:c.523G>A, XM_011518352.2:c.520G>A, XM_011518352.1:c.520G>A, XM_011518353.2:c.523G>A, XM_011518353.1:c.523G>A, NM_001330760.2:c.325G>A, NM_001330760.1:c.325G>A, XM_011518354.2:c.262G>A, XM_011518354.1:c.262G>A, XM_011518355.2:c.259G>A, XM_011518355.1:c.259G>A, XM_017014430.2:c.259G>A, XM_017014430.1:c.259G>A, XR_001746225.2:n.875G>A, XR_001746225.1:n.710G>A, XR_001746226.2:n.674G>A, XR_001746226.1:n.539G>A, XM_024447441.1:c.322G>A, XM_047422924.1:c.325G>A, XM_047422923.1:c.520G>A, XM_047422925.1:c.322G>A, XM_047422927.1:c.325G>A, XM_047422928.1:c.322G>A, XM_047422929.1:c.262G>A, XR_007061260.1:n.872G>A, NP_694590.2:p.Val108Met, XP_011516653.1:p.Val175Met, XP_011516652.1:p.Val175Met, XP_011516654.1:p.Val174Met, XP_011516655.1:p.Val175Met, NP_001317689.1:p.Val109Met, XP_011516656.1:p.Val88Met, XP_011516657.1:p.Val87Met, XP_016869919.1:p.Val87Met, XP_024303209.1:p.Val108Met, XP_047278880.1:p.Val109Met, XP_047278879.1:p.Val174Met, XP_047278881.1:p.Val108Met, XP_047278883.1:p.Val109Met, XP_047278884.1:p.Val108Met, XP_047278885.1:p.Val88Met

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