SNP Links for Protein (Select 257743264) - SNP

Links from Protein

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Select item 14904522961.

rs1490452296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:127829809 (GRCh38)
6:128150954 (GRCh37)
Canonical SPDI:: NC_000006.12:127829808:C:T
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.127829809C>T, NC_000006.11:g.128150954C>T, NG_016226.1:g.93823G>A, NM_001010923.3:c.376G>A, NM_001010923.2:c.376G>A, NM_001164685.2:c.376G>A, NM_001164685.1:c.376G>A, NM_001164687.2:c.271G>A, NM_001164687.1:c.271G>A, NM_001394522.1:c.85G>A, NM_001318531.1:c.85G>A, NM_001394520.1:c.298G>A, NT_187556.1:g.175007C>T, XM_047418763.1:c.403G>A, XM_047418765.1:c.376G>A, XM_047418767.1:c.298G>A, XM_047418766.1:c.376G>A, XM_047418764.1:c.403G>A, NP_001010923.1:p.Glu126Lys, NP_001158157.1:p.Glu126Lys, NP_001158159.1:p.Glu91Lys, NP_001381451.1:p.Glu29Lys, NP_001305460.1:p.Glu29Lys, NP_001381449.1:p.Glu100Lys, XP_047274719.1:p.Glu135Lys, XP_047274721.1:p.Glu126Lys, XP_047274723.1:p.Glu100Lys, XP_047274722.1:p.Glu126Lys, XP_047274720.1:p.Glu135Lys

Select item 14895660322.

rs1489566032 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGACTT>- [Show Flanks]
Chromosome:: 6:127813884 (GRCh38)
6:128135029 (GRCh37)
Canonical SPDI:: NC_000006.12:127813880:CTTTGACTT:CTT
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.127813884_127813889del, NC_000006.11:g.128135029_128135034del, NG_016226.1:g.109746_109751del, NM_001010923.3:c.755_760del, NM_001010923.2:c.755_760del, NM_001164685.2:c.755_760del, NM_001164685.1:c.755_760del, NM_001164687.2:c.650_655del, NM_001164687.1:c.650_655del, NM_001394522.1:c.464_469del, NM_001318531.1:c.464_469del, NM_001394520.1:c.677_682del, NM_001394521.1:c.296_301del, NT_187556.1:g.159082_159087del, XM_047418763.1:c.782_787del, XM_047418765.1:c.755_760del, XM_047418767.1:c.677_682del, XM_047418766.1:c.755_760del, XM_047418764.1:c.782_787del, NP_001010923.1:p.Val252_Lys253del, NP_001158157.1:p.Val252_Lys253del, NP_001158159.1:p.Val217_Lys218del, NP_001381451.1:p.Val155_Lys156del, NP_001305460.1:p.Val155_Lys156del, NP_001381449.1:p.Val226_Lys227del, NP_001381450.1:p.Val99_Lys100del, XP_047274719.1:p.Val261_Lys262del, XP_047274721.1:p.Val252_Lys253del, XP_047274723.1:p.Val226_Lys227del, XP_047274722.1:p.Val252_Lys253del, XP_047274720.1:p.Val261_Lys262del

Select item 14885767653.

rs1488576765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:127813585 (GRCh38)
6:128134730 (GRCh37)
Canonical SPDI:: NC_000006.12:127813584:G:A
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.127813585G>A, NC_000006.11:g.128134730G>A, NG_016226.1:g.110047C>T, NM_001010923.3:c.1056C>T, NM_001010923.2:c.1056C>T, NM_001164685.2:c.1056C>T, NM_001164685.1:c.1056C>T, NM_001164687.2:c.951C>T, NM_001164687.1:c.951C>T, NM_001394522.1:c.765C>T, NM_001318531.1:c.765C>T, NM_001394520.1:c.978C>T, NM_001394521.1:c.597C>T, NT_187556.1:g.158783G>A, XM_047418763.1:c.1083C>T, XM_047418765.1:c.1056C>T, XM_047418767.1:c.978C>T, XM_047418766.1:c.1056C>T, XM_047418764.1:c.1083C>T

Select item 14848179254.

rs1484817925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:127813487 (GRCh38)
6:128134632 (GRCh37)
Canonical SPDI:: NC_000006.12:127813486:A:C,NC_000006.12:127813486:A:G,NC_000006.12:127813486:A:T
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.127813487A>C, NC_000006.12:g.127813487A>G, NC_000006.12:g.127813487A>T, NC_000006.11:g.128134632A>C, NC_000006.11:g.128134632A>G, NC_000006.11:g.128134632A>T, NG_016226.1:g.110145T>G, NG_016226.1:g.110145T>C, NG_016226.1:g.110145T>A, NM_001010923.3:c.1154T>G, NM_001010923.3:c.1154T>C, NM_001010923.3:c.1154T>A, NM_001010923.2:c.1154T>G, NM_001010923.2:c.1154T>C, NM_001010923.2:c.1154T>A, NM_001164685.2:c.1154T>G, NM_001164685.2:c.1154T>C, NM_001164685.2:c.1154T>A, NM_001164685.1:c.1154T>G, NM_001164685.1:c.1154T>C, NM_001164685.1:c.1154T>A, NM_001164687.2:c.1049T>G, NM_001164687.2:c.1049T>C, NM_001164687.2:c.1049T>A, NM_001164687.1:c.1049T>G, NM_001164687.1:c.1049T>C, NM_001164687.1:c.1049T>A, NM_001394522.1:c.863T>G, NM_001394522.1:c.863T>C, NM_001394522.1:c.863T>A, NM_001318531.1:c.863T>G, NM_001318531.1:c.863T>C, NM_001318531.1:c.863T>A, NM_001394520.1:c.1076T>G, NM_001394520.1:c.1076T>C, NM_001394520.1:c.1076T>A, NM_001394521.1:c.695T>G, NM_001394521.1:c.695T>C, NM_001394521.1:c.695T>A, NT_187556.1:g.158685A>C, NT_187556.1:g.158685A>G, NT_187556.1:g.158685A>T, XM_047418763.1:c.1181T>G, XM_047418763.1:c.1181T>C, XM_047418763.1:c.1181T>A, XM_047418765.1:c.1154T>G, XM_047418765.1:c.1154T>C, XM_047418765.1:c.1154T>A, XM_047418767.1:c.1076T>G, XM_047418767.1:c.1076T>C, XM_047418767.1:c.1076T>A, XM_047418766.1:c.1154T>G, XM_047418766.1:c.1154T>C, XM_047418766.1:c.1154T>A, XM_047418764.1:c.1181T>G, XM_047418764.1:c.1181T>C, XM_047418764.1:c.1181T>A, NP_001010923.1:p.Val385Gly, NP_001010923.1:p.Val385Ala, NP_001010923.1:p.Val385Asp, NP_001158157.1:p.Val385Gly, NP_001158157.1:p.Val385Ala, NP_001158157.1:p.Val385Asp, NP_001158159.1:p.Val350Gly, NP_001158159.1:p.Val350Ala, NP_001158159.1:p.Val350Asp, NP_001381451.1:p.Val288Gly, NP_001381451.1:p.Val288Ala, NP_001381451.1:p.Val288Asp, NP_001305460.1:p.Val288Gly, NP_001305460.1:p.Val288Ala, NP_001305460.1:p.Val288Asp, NP_001381449.1:p.Val359Gly, NP_001381449.1:p.Val359Ala, NP_001381449.1:p.Val359Asp, NP_001381450.1:p.Val232Gly, NP_001381450.1:p.Val232Ala, NP_001381450.1:p.Val232Asp, XP_047274719.1:p.Val394Gly, XP_047274719.1:p.Val394Ala, XP_047274719.1:p.Val394Asp, XP_047274721.1:p.Val385Gly, XP_047274721.1:p.Val385Ala, XP_047274721.1:p.Val385Asp, XP_047274723.1:p.Val359Gly, XP_047274723.1:p.Val359Ala, XP_047274723.1:p.Val359Asp, XP_047274722.1:p.Val385Gly, XP_047274722.1:p.Val385Ala, XP_047274722.1:p.Val385Asp, XP_047274720.1:p.Val394Gly, XP_047274720.1:p.Val394Ala, XP_047274720.1:p.Val394Asp

Select item 14844348615.

rs1484434861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127812894 (GRCh38)
6:128134039 (GRCh37)
Canonical SPDI:: NC_000006.12:127812893:T:C
Gene:: THEMIS (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)
HGVS:: NC_000006.12:g.127812894T>C, NC_000006.11:g.128134039T>C, NG_016226.1:g.110738A>G, NM_001010923.3:c.1747A>G, NM_001010923.2:c.1747A>G, NM_001164685.2:c.1747A>G, NM_001164685.1:c.1747A>G, NM_001164687.2:c.1642A>G, NM_001164687.1:c.1642A>G, NM_001394522.1:c.1456A>G, NM_001318531.1:c.1456A>G, NM_001394520.1:c.1669A>G, NM_001394521.1:c.1288A>G, NT_187556.1:g.158092T>C, XM_047418763.1:c.1774A>G, XM_047418765.1:c.1747A>G, XM_047418767.1:c.1669A>G, XM_047418766.1:c.1747A>G, XM_047418764.1:c.1774A>G, NP_001010923.1:p.Lys583Glu, NP_001158157.1:p.Lys583Glu, NP_001158159.1:p.Lys548Glu, NP_001381451.1:p.Lys486Glu, NP_001305460.1:p.Lys486Glu, NP_001381449.1:p.Lys557Glu, NP_001381450.1:p.Lys430Glu, XP_047274719.1:p.Lys592Glu, XP_047274721.1:p.Lys583Glu, XP_047274723.1:p.Lys557Glu, XP_047274722.1:p.Lys583Glu, XP_047274720.1:p.Lys592Glu

Select item 14807011956.

rs1480701195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:127719781 (GRCh38)
6:128040926 (GRCh37)
Canonical SPDI:: NC_000006.12:127719780:C:G
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.127719781C>G, NC_000006.11:g.128040926C>G, NG_016226.1:g.203851G>C, NM_001010923.3:c.1801G>C, NM_001010923.2:c.1801G>C, NM_001164685.2:c.1918G>C, NM_001164685.1:c.1918G>C, NM_001164687.2:c.1696G>C, NM_001164687.1:c.1696G>C, NM_001394522.1:c.1510G>C, NM_001318531.1:c.1510G>C, NM_001394520.1:c.1723G>C, NM_001394521.1:c.1342G>C, NT_187556.1:g.64979C>G, XM_047418766.1:c.1801G>C, XM_047418764.1:c.1828G>C, NP_001010923.1:p.Ala601Pro, NP_001158157.1:p.Ala640Pro, NP_001158159.1:p.Ala566Pro, NP_001381451.1:p.Ala504Pro, NP_001305460.1:p.Ala504Pro, NP_001381449.1:p.Ala575Pro, NP_001381450.1:p.Ala448Pro, XP_047274722.1:p.Ala601Pro, XP_047274720.1:p.Ala610Pro

Select item 14806405747.

rs1480640574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127813583 (GRCh38)
6:128134728 (GRCh37)
Canonical SPDI:: NC_000006.12:127813582:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.127813583T>C, NC_000006.11:g.128134728T>C, NG_016226.1:g.110049A>G, NM_001010923.3:c.1058A>G, NM_001010923.2:c.1058A>G, NM_001164685.2:c.1058A>G, NM_001164685.1:c.1058A>G, NM_001164687.2:c.953A>G, NM_001164687.1:c.953A>G, NM_001394522.1:c.767A>G, NM_001318531.1:c.767A>G, NM_001394520.1:c.980A>G, NM_001394521.1:c.599A>G, NT_187556.1:g.158781T>C, XM_047418763.1:c.1085A>G, XM_047418765.1:c.1058A>G, XM_047418767.1:c.980A>G, XM_047418766.1:c.1058A>G, XM_047418764.1:c.1085A>G, NP_001010923.1:p.Tyr353Cys, NP_001158157.1:p.Tyr353Cys, NP_001158159.1:p.Tyr318Cys, NP_001381451.1:p.Tyr256Cys, NP_001305460.1:p.Tyr256Cys, NP_001381449.1:p.Tyr327Cys, NP_001381450.1:p.Tyr200Cys, XP_047274719.1:p.Tyr362Cys, XP_047274721.1:p.Tyr353Cys, XP_047274723.1:p.Tyr327Cys, XP_047274722.1:p.Tyr353Cys, XP_047274720.1:p.Tyr362Cys

Select item 14805891308.

rs1480589130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:127829749 (GRCh38)
6:128150894 (GRCh37)
Canonical SPDI:: NC_000006.12:127829748:C:T
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.127829749C>T, NC_000006.11:g.128150894C>T, NG_016226.1:g.93883G>A, NM_001010923.3:c.436G>A, NM_001010923.2:c.436G>A, NM_001164685.2:c.436G>A, NM_001164685.1:c.436G>A, NM_001164687.2:c.331G>A, NM_001164687.1:c.331G>A, NM_001394522.1:c.145G>A, NM_001318531.1:c.145G>A, NM_001394520.1:c.358G>A, NT_187556.1:g.174947C>T, XM_047418763.1:c.463G>A, XM_047418765.1:c.436G>A, XM_047418767.1:c.358G>A, XM_047418766.1:c.436G>A, XM_047418764.1:c.463G>A, NP_001010923.1:p.Gly146Arg, NP_001158157.1:p.Gly146Arg, NP_001158159.1:p.Gly111Arg, NP_001381451.1:p.Gly49Arg, NP_001305460.1:p.Gly49Arg, NP_001381449.1:p.Gly120Arg, XP_047274719.1:p.Gly155Arg, XP_047274721.1:p.Gly146Arg, XP_047274723.1:p.Gly120Arg, XP_047274722.1:p.Gly146Arg, XP_047274720.1:p.Gly155Arg

Select item 14802333029.

rs1480233302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127829741 (GRCh38)
6:128150886 (GRCh37)
Canonical SPDI:: NC_000006.12:127829740:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.127829741T>C, NC_000006.11:g.128150886T>C, NG_016226.1:g.93891A>G, NM_001010923.3:c.444A>G, NM_001010923.2:c.444A>G, NM_001164685.2:c.444A>G, NM_001164685.1:c.444A>G, NM_001164687.2:c.339A>G, NM_001164687.1:c.339A>G, NM_001394522.1:c.153A>G, NM_001318531.1:c.153A>G, NM_001394520.1:c.366A>G, NT_187556.1:g.174939T>C, XM_047418763.1:c.471A>G, XM_047418765.1:c.444A>G, XM_047418767.1:c.366A>G, XM_047418766.1:c.444A>G, XM_047418764.1:c.471A>G, NP_001010923.1:p.Ile148Met, NP_001158157.1:p.Ile148Met, NP_001158159.1:p.Ile113Met, NP_001381451.1:p.Ile51Met, NP_001305460.1:p.Ile51Met, NP_001381449.1:p.Ile122Met, XP_047274719.1:p.Ile157Met, XP_047274721.1:p.Ile148Met, XP_047274723.1:p.Ile122Met, XP_047274722.1:p.Ile148Met, XP_047274720.1:p.Ile157Met

Select item 147987894910.

rs1479878949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127710007 (GRCh38)
6:128031152 (GRCh37)
Canonical SPDI:: NC_000006.12:127710006:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.127710007T>C, NC_000006.11:g.128031152T>C, NG_016226.1:g.213625A>G, NM_001010923.3:c.1904A>G, NM_001010923.2:c.1904A>G, NM_001164685.2:c.2021A>G, NM_001164685.1:c.2021A>G, NM_001164687.2:c.1799A>G, NM_001164687.1:c.1799A>G, NM_001394522.1:c.1613A>G, NM_001318531.1:c.1613A>G, NM_001394520.1:c.1826A>G, NM_001394521.1:c.1445A>G, NT_187556.1:g.55205T>C, XM_047418766.1:c.1904A>G, XM_047418764.1:c.1931A>G, NP_001010923.1:p.Lys635Arg, NP_001158157.1:p.Lys674Arg, NP_001158159.1:p.Lys600Arg, NP_001381451.1:p.Lys538Arg, NP_001305460.1:p.Lys538Arg, NP_001381449.1:p.Lys609Arg, NP_001381450.1:p.Lys482Arg, XP_047274722.1:p.Lys635Arg, XP_047274720.1:p.Lys644Arg

Select item 147793438711.

rs1477934387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:127719791 (GRCh38)
6:128040936 (GRCh37)
Canonical SPDI:: NC_000006.12:127719790:G:A,NC_000006.12:127719790:G:C
Gene:: THEMIS (Varview)
Functional Consequence:: missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.127719791G>A, NC_000006.12:g.127719791G>C, NC_000006.11:g.128040936G>A, NC_000006.11:g.128040936G>C, NG_016226.1:g.203841C>T, NG_016226.1:g.203841C>G, NM_001010923.3:c.1791C>T, NM_001010923.3:c.1791C>G, NM_001010923.2:c.1791C>T, NM_001010923.2:c.1791C>G, NM_001164685.2:c.1908C>T, NM_001164685.2:c.1908C>G, NM_001164685.1:c.1908C>T, NM_001164685.1:c.1908C>G, NM_001164687.2:c.1686C>T, NM_001164687.2:c.1686C>G, NM_001164687.1:c.1686C>T, NM_001164687.1:c.1686C>G, NM_001394522.1:c.1500C>T, NM_001394522.1:c.1500C>G, NM_001318531.1:c.1500C>T, NM_001318531.1:c.1500C>G, NM_001394520.1:c.1713C>T, NM_001394520.1:c.1713C>G, NM_001394521.1:c.1332C>T, NM_001394521.1:c.1332C>G, NT_187556.1:g.64989G>A, NT_187556.1:g.64989G>C, XM_047418766.1:c.1791C>T, XM_047418766.1:c.1791C>G, XM_047418764.1:c.1818C>T, XM_047418764.1:c.1818C>G, NP_001010923.1:p.His597Gln, NP_001158157.1:p.His636Gln, NP_001158159.1:p.His562Gln, NP_001381451.1:p.His500Gln, NP_001305460.1:p.His500Gln, NP_001381449.1:p.His571Gln, NP_001381450.1:p.His444Gln, XP_047274722.1:p.His597Gln, XP_047274720.1:p.His606Gln

Select item 147418862712.

rs1474188627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127813736 (GRCh38)
6:128134881 (GRCh37)
Canonical SPDI:: NC_000006.12:127813735:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.127813736T>C, NC_000006.11:g.128134881T>C, NG_016226.1:g.109896A>G, NM_001010923.3:c.905A>G, NM_001010923.2:c.905A>G, NM_001164685.2:c.905A>G, NM_001164685.1:c.905A>G, NM_001164687.2:c.800A>G, NM_001164687.1:c.800A>G, NM_001394522.1:c.614A>G, NM_001318531.1:c.614A>G, NM_001394520.1:c.827A>G, NM_001394521.1:c.446A>G, NT_187556.1:g.158934T>C, XM_047418763.1:c.932A>G, XM_047418765.1:c.905A>G, XM_047418767.1:c.827A>G, XM_047418766.1:c.905A>G, XM_047418764.1:c.932A>G, NP_001010923.1:p.Gln302Arg, NP_001158157.1:p.Gln302Arg, NP_001158159.1:p.Gln267Arg, NP_001381451.1:p.Gln205Arg, NP_001305460.1:p.Gln205Arg, NP_001381449.1:p.Gln276Arg, NP_001381450.1:p.Gln149Arg, XP_047274719.1:p.Gln311Arg, XP_047274721.1:p.Gln302Arg, XP_047274723.1:p.Gln276Arg, XP_047274722.1:p.Gln302Arg, XP_047274720.1:p.Gln311Arg

Select item 147119578713.

rs1471195787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:127855087 (GRCh38)
6:128176232 (GRCh37)
Canonical SPDI:: NC_000006.12:127855086:C:G
Gene:: THEMIS (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.127855087C>G, NC_000006.11:g.128176232C>G, NG_016226.1:g.68545G>C, NM_001010923.3:c.193G>C, NM_001010923.2:c.193G>C, NM_001164685.2:c.193G>C, NM_001164685.1:c.193G>C, NM_001164687.2:c.88G>C, NM_001164687.1:c.88G>C, NM_001394522.1:c.-279G>C, NM_001318531.1:c.-404G>C, NM_001394520.1:c.88G>C, NM_001394521.1:c.193G>C, NT_187556.1:g.200285C>G, XM_047418763.1:c.193G>C, XM_047418765.1:c.193G>C, XM_047418767.1:c.88G>C, XM_047418766.1:c.193G>C, XM_047418764.1:c.193G>C, NP_001010923.1:p.Glu65Gln, NP_001158157.1:p.Glu65Gln, NP_001158159.1:p.Glu30Gln, NP_001381449.1:p.Glu30Gln, NP_001381450.1:p.Glu65Gln, XP_047274719.1:p.Glu65Gln, XP_047274721.1:p.Glu65Gln, XP_047274723.1:p.Glu30Gln, XP_047274722.1:p.Glu65Gln, XP_047274720.1:p.Glu65Gln

Select item 146960656814.

rs1469606568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:127812961 (GRCh38)
6:128134106 (GRCh37)
Canonical SPDI:: NC_000006.12:127812960:G:T
Gene:: THEMIS (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_000006.12:g.127812961G>T, NC_000006.11:g.128134106G>T, NG_016226.1:g.110671C>A, NM_001010923.3:c.1680C>A, NM_001010923.2:c.1680C>A, NM_001164685.2:c.1680C>A, NM_001164685.1:c.1680C>A, NM_001164687.2:c.1575C>A, NM_001164687.1:c.1575C>A, NM_001394522.1:c.1389C>A, NM_001318531.1:c.1389C>A, NM_001394520.1:c.1602C>A, NM_001394521.1:c.1221C>A, NT_187556.1:g.158159G>T, XM_047418763.1:c.1707C>A, XM_047418765.1:c.1680C>A, XM_047418767.1:c.1602C>A, XM_047418766.1:c.1680C>A, XM_047418764.1:c.1707C>A, NP_001010923.1:p.His560Gln, NP_001158157.1:p.His560Gln, NP_001158159.1:p.His525Gln, NP_001381451.1:p.His463Gln, NP_001305460.1:p.His463Gln, NP_001381449.1:p.His534Gln, NP_001381450.1:p.His407Gln, XP_047274719.1:p.His569Gln, XP_047274721.1:p.His560Gln, XP_047274723.1:p.His534Gln, XP_047274722.1:p.His560Gln, XP_047274720.1:p.His569Gln

Select item 146949599315.

rs1469495993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:127813259 (GRCh38)
6:128134404 (GRCh37)
Canonical SPDI:: NC_000006.12:127813258:A:T
Gene:: THEMIS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.127813259A>T, NC_000006.11:g.128134404A>T, NG_016226.1:g.110373T>A, NM_001010923.3:c.1382T>A, NM_001010923.2:c.1382T>A, NM_001164685.2:c.1382T>A, NM_001164685.1:c.1382T>A, NM_001164687.2:c.1277T>A, NM_001164687.1:c.1277T>A, NM_001394522.1:c.1091T>A, NM_001318531.1:c.1091T>A, NM_001394520.1:c.1304T>A, NM_001394521.1:c.923T>A, NT_187556.1:g.158457A>T, XM_047418763.1:c.1409T>A, XM_047418765.1:c.1382T>A, XM_047418767.1:c.1304T>A, XM_047418766.1:c.1382T>A, XM_047418764.1:c.1409T>A, NP_001010923.1:p.Val461Glu, NP_001158157.1:p.Val461Glu, NP_001158159.1:p.Val426Glu, NP_001381451.1:p.Val364Glu, NP_001305460.1:p.Val364Glu, NP_001381449.1:p.Val435Glu, NP_001381450.1:p.Val308Glu, XP_047274719.1:p.Val470Glu, XP_047274721.1:p.Val461Glu, XP_047274723.1:p.Val435Glu, XP_047274722.1:p.Val461Glu, XP_047274720.1:p.Val470Glu

Select item 146857445116.

rs1468574451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:127813152 (GRCh38)
6:128134297 (GRCh37)
Canonical SPDI:: NC_000006.12:127813151:T:G
Gene:: THEMIS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.127813152T>G, NC_000006.11:g.128134297T>G, NG_016226.1:g.110480A>C, NM_001010923.3:c.1489A>C, NM_001010923.2:c.1489A>C, NM_001164685.2:c.1489A>C, NM_001164685.1:c.1489A>C, NM_001164687.2:c.1384A>C, NM_001164687.1:c.1384A>C, NM_001394522.1:c.1198A>C, NM_001318531.1:c.1198A>C, NM_001394520.1:c.1411A>C, NM_001394521.1:c.1030A>C, NT_187556.1:g.158350T>G, XM_047418763.1:c.1516A>C, XM_047418765.1:c.1489A>C, XM_047418767.1:c.1411A>C, XM_047418766.1:c.1489A>C, XM_047418764.1:c.1516A>C, NP_001010923.1:p.Asn497His, NP_001158157.1:p.Asn497His, NP_001158159.1:p.Asn462His, NP_001381451.1:p.Asn400His, NP_001305460.1:p.Asn400His, NP_001381449.1:p.Asn471His, NP_001381450.1:p.Asn344His, XP_047274719.1:p.Asn506His, XP_047274721.1:p.Asn497His, XP_047274723.1:p.Asn471His, XP_047274722.1:p.Asn497His, XP_047274720.1:p.Asn506His

Select item 146686734717.

rs1466867347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:127719767 (GRCh38)
6:128040912 (GRCh37)
Canonical SPDI:: NC_000006.12:127719766:T:A,NC_000006.12:127719766:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.127719767T>A, NC_000006.12:g.127719767T>C, NC_000006.11:g.128040912T>A, NC_000006.11:g.128040912T>C, NG_016226.1:g.203865A>T, NG_016226.1:g.203865A>G, NM_001010923.3:c.1815A>T, NM_001010923.3:c.1815A>G, NM_001010923.2:c.1815A>T, NM_001010923.2:c.1815A>G, NM_001164685.2:c.1932A>T, NM_001164685.2:c.1932A>G, NM_001164685.1:c.1932A>T, NM_001164685.1:c.1932A>G, NM_001164687.2:c.1710A>T, NM_001164687.2:c.1710A>G, NM_001164687.1:c.1710A>T, NM_001164687.1:c.1710A>G, NM_001394522.1:c.1524A>T, NM_001394522.1:c.1524A>G, NM_001318531.1:c.1524A>T, NM_001318531.1:c.1524A>G, NM_001394520.1:c.1737A>T, NM_001394520.1:c.1737A>G, NM_001394521.1:c.1356A>T, NM_001394521.1:c.1356A>G, NT_187556.1:g.64965T>A, NT_187556.1:g.64965T>C, XM_047418766.1:c.1815A>T, XM_047418766.1:c.1815A>G, XM_047418764.1:c.1842A>T, XM_047418764.1:c.1842A>G

Select item 146635995018.

rs1466359950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:127812916 (GRCh38)
6:128134061 (GRCh37)
Canonical SPDI:: NC_000006.12:127812915:T:C
Gene:: THEMIS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000113/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.127812916T>C, NC_000006.11:g.128134061T>C, NG_016226.1:g.110716A>G, NM_001010923.3:c.1725A>G, NM_001010923.2:c.1725A>G, NM_001164685.2:c.1725A>G, NM_001164685.1:c.1725A>G, NM_001164687.2:c.1620A>G, NM_001164687.1:c.1620A>G, NM_001394522.1:c.1434A>G, NM_001318531.1:c.1434A>G, NM_001394520.1:c.1647A>G, NM_001394521.1:c.1266A>G, NT_187556.1:g.158114T>C, XM_047418763.1:c.1752A>G, XM_047418765.1:c.1725A>G, XM_047418767.1:c.1647A>G, XM_047418766.1:c.1725A>G, XM_047418764.1:c.1752A>G

Select item 146502259119.

rs1465022591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:127829689 (GRCh38)
6:128150834 (GRCh37)
Canonical SPDI:: NC_000006.12:127829688:G:A
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.127829689G>A, NC_000006.11:g.128150834G>A, NG_016226.1:g.93943C>T, NM_001010923.3:c.496C>T, NM_001010923.2:c.496C>T, NM_001164685.2:c.496C>T, NM_001164685.1:c.496C>T, NM_001164687.2:c.391C>T, NM_001164687.1:c.391C>T, NM_001394522.1:c.205C>T, NM_001318531.1:c.205C>T, NM_001394520.1:c.418C>T, NT_187556.1:g.174887G>A, XM_047418763.1:c.523C>T, XM_047418765.1:c.496C>T, XM_047418767.1:c.418C>T, XM_047418766.1:c.496C>T, XM_047418764.1:c.523C>T, NP_001010923.1:p.Pro166Ser, NP_001158157.1:p.Pro166Ser, NP_001158159.1:p.Pro131Ser, NP_001381451.1:p.Pro69Ser, NP_001305460.1:p.Pro69Ser, NP_001381449.1:p.Pro140Ser, XP_047274719.1:p.Pro175Ser, XP_047274721.1:p.Pro166Ser, XP_047274723.1:p.Pro140Ser, XP_047274722.1:p.Pro166Ser, XP_047274720.1:p.Pro175Ser

Select item 146073584820.

rs1460735848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:127855104 (GRCh38)
6:128176249 (GRCh37)
Canonical SPDI:: NC_000006.12:127855103:A:G
Gene:: THEMIS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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_000006.12:g.127855104A>G, NC_000006.11:g.128176249A>G, NG_016226.1:g.68528T>C, NM_001010923.3:c.176T>C, NM_001010923.2:c.176T>C, NM_001164685.2:c.176T>C, NM_001164685.1:c.176T>C, NM_001164687.2:c.71T>C, NM_001164687.1:c.71T>C, NM_001394522.1:c.-296T>C, NM_001318531.1:c.-421T>C, NM_001394520.1:c.71T>C, NM_001394521.1:c.176T>C, NT_187556.1:g.200302A>G, XM_047418763.1:c.176T>C, XM_047418765.1:c.176T>C, XM_047418767.1:c.71T>C, XM_047418766.1:c.176T>C, XM_047418764.1:c.176T>C, NP_001010923.1:p.Ile59Thr, NP_001158157.1:p.Ile59Thr, NP_001158159.1:p.Ile24Thr, NP_001381449.1:p.Ile24Thr, NP_001381450.1:p.Ile59Thr, XP_047274719.1:p.Ile59Thr, XP_047274721.1:p.Ile59Thr, XP_047274723.1:p.Ile24Thr, XP_047274722.1:p.Ile59Thr, XP_047274720.1:p.Ile59Thr

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