SNP Links for Protein (Select 914615971) - SNP

Links from Protein

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Select item 14739210531.

rs1473921053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39774883 (GRCh38)
4:39776503 (GRCh37)
Canonical SPDI:: NC_000004.12:39774882:T:C
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.39774883T>C, NC_000004.11:g.39776503T>C, NM_005339.5:c.349T>C, NM_005339.4:c.349T>C, NM_001312647.2:c.40T>C, NM_001312647.1:c.40T>C, NM_001312648.2:c.40T>C, NM_001312648.1:c.40T>C, NM_001111112.2:c.349T>C, NM_001111112.1:c.349T>C, NM_001111113.2:c.196T>C, NM_001111113.1:c.196T>C, XM_047450157.1:c.40T>C, XM_047450158.1:c.40T>C, XM_047450156.1:c.196T>C

Select item 14501590162.

rs1450159016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39778411 (GRCh38)
4:39780031 (GRCh37)
Canonical SPDI:: NC_000004.12:39778410:A:G
Gene:: UBE2K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39778411A>G, NC_000004.11:g.39780031A>G, NM_005339.5:c.580A>G, NM_005339.4:c.580A>G, NM_001312647.2:c.271A>G, NM_001312647.1:c.271A>G, NM_001312648.2:c.271A>G, NM_001312648.1:c.271A>G, NM_001111112.2:c.451A>G, NM_001111112.1:c.451A>G, NM_001111113.2:c.427A>G, NM_001111113.1:c.427A>G, NM_001312646.2:c.397A>G, NM_001312646.1:c.397A>G, XM_047450157.1:c.271A>G, XM_047450158.1:c.271A>G, XM_047450156.1:c.298A>G, NP_005330.1:p.Thr194Ala, NP_001299576.1:p.Thr91Ala, NP_001299577.1:p.Thr91Ala, NP_001104582.1:p.Thr151Ala, NP_001104583.1:p.Thr143Ala, NP_001299575.1:p.Thr133Ala, XP_047306113.1:p.Thr91Ala, XP_047306114.1:p.Thr91Ala, XP_047306112.1:p.Thr100Ala

Select item 14496114633.

rs1449611463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39774852 (GRCh38)
4:39776472 (GRCh37)
Canonical SPDI:: NC_000004.12:39774851:C:T
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.39774852C>T, NC_000004.11:g.39776472C>T, NM_005339.5:c.318C>T, NM_005339.4:c.318C>T, NM_001312647.2:c.9C>T, NM_001312647.1:c.9C>T, NM_001312648.2:c.9C>T, NM_001312648.1:c.9C>T, NM_001111112.2:c.318C>T, NM_001111112.1:c.318C>T, NM_001111113.2:c.165C>T, NM_001111113.1:c.165C>T, XM_047450157.1:c.9C>T, XM_047450158.1:c.9C>T, XM_047450156.1:c.165C>T

Select item 14487888614.

rs1448788861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39774862 (GRCh38)
4:39776482 (GRCh37)
Canonical SPDI:: NC_000004.12:39774861:T:C
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39774862T>C, NC_000004.11:g.39776482T>C, NM_005339.5:c.328T>C, NM_005339.4:c.328T>C, NM_001312647.2:c.19T>C, NM_001312647.1:c.19T>C, NM_001312648.2:c.19T>C, NM_001312648.1:c.19T>C, NM_001111112.2:c.328T>C, NM_001111112.1:c.328T>C, NM_001111113.2:c.175T>C, NM_001111113.1:c.175T>C, XM_047450157.1:c.19T>C, XM_047450158.1:c.19T>C, XM_047450156.1:c.175T>C

Select item 14409476815.

rs1440947681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:39777789 (GRCh38)
4:39779409 (GRCh37)
Canonical SPDI:: NC_000004.12:39777788:A:G,NC_000004.12:39777788:A:T
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.39777789A>G, NC_000004.12:g.39777789A>T, NC_000004.11:g.39779409A>G, NC_000004.11:g.39779409A>T, NM_005339.5:c.507A>G, NM_005339.5:c.507A>T, NM_005339.4:c.507A>G, NM_005339.4:c.507A>T, NM_001312647.2:c.198A>G, NM_001312647.2:c.198A>T, NM_001312647.1:c.198A>G, NM_001312647.1:c.198A>T, NM_001312648.2:c.198A>G, NM_001312648.2:c.198A>T, NM_001312648.1:c.198A>G, NM_001312648.1:c.198A>T, NM_001111113.2:c.354A>G, NM_001111113.2:c.354A>T, NM_001111113.1:c.354A>G, NM_001111113.1:c.354A>T, NM_001312646.2:c.324A>G, NM_001312646.2:c.324A>T, NM_001312646.1:c.324A>G, NM_001312646.1:c.324A>T, XM_047450157.1:c.198A>G, XM_047450157.1:c.198A>T, XM_047450158.1:c.198A>G, XM_047450158.1:c.198A>T

Select item 13559183766.

rs1355918376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39777796 (GRCh38)
4:39779416 (GRCh37)
Canonical SPDI:: NC_000004.12:39777795:A:G
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39777796A>G, NC_000004.11:g.39779416A>G, NM_005339.5:c.514A>G, NM_005339.4:c.514A>G, NM_001312647.2:c.205A>G, NM_001312647.1:c.205A>G, NM_001312648.2:c.205A>G, NM_001312648.1:c.205A>G, NM_001111113.2:c.361A>G, NM_001111113.1:c.361A>G, NM_001312646.2:c.331A>G, NM_001312646.1:c.331A>G, XM_047450157.1:c.205A>G, XM_047450158.1:c.205A>G, NP_005330.1:p.Met172Val, NP_001299576.1:p.Met69Val, NP_001299577.1:p.Met69Val, NP_001104583.1:p.Met121Val, NP_001299575.1:p.Met111Val, XP_047306113.1:p.Met69Val, XP_047306114.1:p.Met69Val

Select item 13456224457.

rs1345622445 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:39777772 (GRCh38)
4:39779392 (GRCh37)
Canonical SPDI:: NC_000004.12:39777771:AAAAAAA:AAAAAA
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
HGVS:: NC_000004.12:g.39777778del, NC_000004.11:g.39779398del, NM_005339.5:c.496del, NM_005339.4:c.496del, NM_001312647.2:c.187del, NM_001312647.1:c.187del, NM_001312648.2:c.187del, NM_001312648.1:c.187del, NM_001111113.2:c.343del, NM_001111113.1:c.343del, NM_001312646.2:c.313del, NM_001312646.1:c.313del, XM_047450157.1:c.187del, XM_047450158.1:c.187del, NP_005330.1:p.Lys165_Ile166insTer, NP_001299576.1:p.Lys62_Ile63insTer, NP_001299577.1:p.Lys62_Ile63insTer, NP_001104583.1:p.Lys114_Ile115insTer, NP_001299575.1:p.Lys104_Ile105insTer, XP_047306113.1:p.Lys62_Ile63insTer, XP_047306114.1:p.Lys62_Ile63insTer

Select item 13422241578.

rs1342224157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:39777760 (GRCh38)
4:39779380 (GRCh37)
Canonical SPDI:: NC_000004.12:39777759:C:A,NC_000004.12:39777759:C:T
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39777760C>A, NC_000004.12:g.39777760C>T, NC_000004.11:g.39779380C>A, NC_000004.11:g.39779380C>T, NM_005339.5:c.478C>A, NM_005339.5:c.478C>T, NM_005339.4:c.478C>A, NM_005339.4:c.478C>T, NM_001312647.2:c.169C>A, NM_001312647.2:c.169C>T, NM_001312647.1:c.169C>A, NM_001312647.1:c.169C>T, NM_001312648.2:c.169C>A, NM_001312648.2:c.169C>T, NM_001312648.1:c.169C>A, NM_001312648.1:c.169C>T, NM_001111113.2:c.325C>A, NM_001111113.2:c.325C>T, NM_001111113.1:c.325C>A, NM_001111113.1:c.325C>T, NM_001312646.2:c.295C>A, NM_001312646.2:c.295C>T, NM_001312646.1:c.295C>A, NM_001312646.1:c.295C>T, XM_047450157.1:c.169C>A, XM_047450157.1:c.169C>T, XM_047450158.1:c.169C>A, XM_047450158.1:c.169C>T, NP_005330.1:p.Pro160Thr, NP_005330.1:p.Pro160Ser, NP_001299576.1:p.Pro57Thr, NP_001299576.1:p.Pro57Ser, NP_001299577.1:p.Pro57Thr, NP_001299577.1:p.Pro57Ser, NP_001104583.1:p.Pro109Thr, NP_001104583.1:p.Pro109Ser, NP_001299575.1:p.Pro99Thr, NP_001299575.1:p.Pro99Ser, XP_047306113.1:p.Pro57Thr, XP_047306113.1:p.Pro57Ser, XP_047306114.1:p.Pro57Thr, XP_047306114.1:p.Pro57Ser

Select item 13329294669.

rs1332929466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39777707 (GRCh38)
4:39779327 (GRCh37)
Canonical SPDI:: NC_000004.12:39777706:A:G
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39777707A>G, NC_000004.11:g.39779327A>G, NM_005339.5:c.425A>G, NM_005339.4:c.425A>G, NM_001312647.2:c.116A>G, NM_001312647.1:c.116A>G, NM_001312648.2:c.116A>G, NM_001312648.1:c.116A>G, NM_001111113.2:c.272A>G, NM_001111113.1:c.272A>G, NM_001312646.2:c.242A>G, NM_001312646.1:c.242A>G, XM_047450157.1:c.116A>G, XM_047450158.1:c.116A>G, NP_005330.1:p.Lys142Arg, NP_001299576.1:p.Lys39Arg, NP_001299577.1:p.Lys39Arg, NP_001104583.1:p.Lys91Arg, NP_001299575.1:p.Lys81Arg, XP_047306113.1:p.Lys39Arg, XP_047306114.1:p.Lys39Arg

Select item 126485407910.

rs1264854079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39777770 (GRCh38)
4:39779390 (GRCh37)
Canonical SPDI:: NC_000004.12:39777769:C:A
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39777770C>A, NC_000004.11:g.39779390C>A, NM_005339.5:c.488C>A, NM_005339.4:c.488C>A, NM_001312647.2:c.179C>A, NM_001312647.1:c.179C>A, NM_001312648.2:c.179C>A, NM_001312648.1:c.179C>A, NM_001111113.2:c.335C>A, NM_001111113.1:c.335C>A, NM_001312646.2:c.305C>A, NM_001312646.1:c.305C>A, XM_047450157.1:c.179C>A, XM_047450158.1:c.179C>A, NP_005330.1:p.Thr163Asn, NP_001299576.1:p.Thr60Asn, NP_001299577.1:p.Thr60Asn, NP_001104583.1:p.Thr112Asn, NP_001299575.1:p.Thr102Asn, XP_047306113.1:p.Thr60Asn, XP_047306114.1:p.Thr60Asn

Select item 119872932311.

rs1198729323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:39778364 (GRCh38)
4:39779984 (GRCh37)
Canonical SPDI:: NC_000004.12:39778363:C:A,NC_000004.12:39778363:C:G
Gene:: UBE2K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39778364C>A, NC_000004.12:g.39778364C>G, NC_000004.11:g.39779984C>A, NC_000004.11:g.39779984C>G, NM_005339.5:c.533C>A, NM_005339.5:c.533C>G, NM_005339.4:c.533C>A, NM_005339.4:c.533C>G, NM_001312647.2:c.224C>A, NM_001312647.2:c.224C>G, NM_001312647.1:c.224C>A, NM_001312647.1:c.224C>G, NM_001312648.2:c.224C>A, NM_001312648.2:c.224C>G, NM_001312648.1:c.224C>A, NM_001312648.1:c.224C>G, NM_001111112.2:c.404C>A, NM_001111112.2:c.404C>G, NM_001111112.1:c.404C>A, NM_001111112.1:c.404C>G, NM_001111113.2:c.380C>A, NM_001111113.2:c.380C>G, NM_001111113.1:c.380C>A, NM_001111113.1:c.380C>G, NM_001312646.2:c.350C>A, NM_001312646.2:c.350C>G, NM_001312646.1:c.350C>A, NM_001312646.1:c.350C>G, XM_047450157.1:c.224C>A, XM_047450157.1:c.224C>G, XM_047450158.1:c.224C>A, XM_047450158.1:c.224C>G, XM_047450156.1:c.251C>A, XM_047450156.1:c.251C>G, NP_005330.1:p.Ala178Glu, NP_005330.1:p.Ala178Gly, NP_001299576.1:p.Ala75Glu, NP_001299576.1:p.Ala75Gly, NP_001299577.1:p.Ala75Glu, NP_001299577.1:p.Ala75Gly, NP_001104582.1:p.Ala135Glu, NP_001104582.1:p.Ala135Gly, NP_001104583.1:p.Ala127Glu, NP_001104583.1:p.Ala127Gly, NP_001299575.1:p.Ala117Glu, NP_001299575.1:p.Ala117Gly, XP_047306113.1:p.Ala75Glu, XP_047306113.1:p.Ala75Gly, XP_047306114.1:p.Ala75Glu, XP_047306114.1:p.Ala75Gly, XP_047306112.1:p.Ala84Glu, XP_047306112.1:p.Ala84Gly

Select item 116014070412.

rs1160140704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39777694 (GRCh38)
4:39779314 (GRCh37)
Canonical SPDI:: NC_000004.12:39777693:C:T
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39777694C>T, NC_000004.11:g.39779314C>T, NM_005339.5:c.412C>T, NM_005339.4:c.412C>T, NM_001312647.2:c.103C>T, NM_001312647.1:c.103C>T, NM_001312648.2:c.103C>T, NM_001312648.1:c.103C>T, NM_001111113.2:c.259C>T, NM_001111113.1:c.259C>T, NM_001312646.2:c.229C>T, NM_001312646.1:c.229C>T, XM_047450157.1:c.103C>T, XM_047450158.1:c.103C>T, NP_005330.1:p.Pro138Ser, NP_001299576.1:p.Pro35Ser, NP_001299577.1:p.Pro35Ser, NP_001104583.1:p.Pro87Ser, NP_001299575.1:p.Pro77Ser, XP_047306113.1:p.Pro35Ser, XP_047306114.1:p.Pro35Ser

Select item 105646789413.

rs1056467894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:39777718 (GRCh38)
4:39779338 (GRCh37)
Canonical SPDI:: NC_000004.12:39777717:C:G,NC_000004.12:39777717:C:T
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/3 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.39777718C>G, NC_000004.12:g.39777718C>T, NC_000004.11:g.39779338C>G, NC_000004.11:g.39779338C>T, NM_005339.5:c.436C>G, NM_005339.5:c.436C>T, NM_005339.4:c.436C>G, NM_005339.4:c.436C>T, NM_001312647.2:c.127C>G, NM_001312647.2:c.127C>T, NM_001312647.1:c.127C>G, NM_001312647.1:c.127C>T, NM_001312648.2:c.127C>G, NM_001312648.2:c.127C>T, NM_001312648.1:c.127C>G, NM_001312648.1:c.127C>T, NM_001111113.2:c.283C>G, NM_001111113.2:c.283C>T, NM_001111113.1:c.283C>G, NM_001111113.1:c.283C>T, NM_001312646.2:c.253C>G, NM_001312646.2:c.253C>T, NM_001312646.1:c.253C>G, NM_001312646.1:c.253C>T, XM_047450157.1:c.127C>G, XM_047450157.1:c.127C>T, XM_047450158.1:c.127C>G, XM_047450158.1:c.127C>T, NP_005330.1:p.Arg146Gly, NP_005330.1:p.Arg146Ter, NP_001299576.1:p.Arg43Gly, NP_001299576.1:p.Arg43Ter, NP_001299577.1:p.Arg43Gly, NP_001299577.1:p.Arg43Ter, NP_001104583.1:p.Arg95Gly, NP_001104583.1:p.Arg95Ter, NP_001299575.1:p.Arg85Gly, NP_001299575.1:p.Arg85Ter, XP_047306113.1:p.Arg43Gly, XP_047306113.1:p.Arg43Ter, XP_047306114.1:p.Arg43Gly, XP_047306114.1:p.Arg43Ter

Select item 98861189714.

rs988611897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39774871 (GRCh38)
4:39776491 (GRCh37)
Canonical SPDI:: NC_000004.12:39774870:T:C
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39774871T>C, NC_000004.11:g.39776491T>C, NM_005339.5:c.337T>C, NM_005339.4:c.337T>C, NM_001312647.2:c.28T>C, NM_001312647.1:c.28T>C, NM_001312648.2:c.28T>C, NM_001312648.1:c.28T>C, NM_001111112.2:c.337T>C, NM_001111112.1:c.337T>C, NM_001111113.2:c.184T>C, NM_001111113.1:c.184T>C, XM_047450157.1:c.28T>C, XM_047450158.1:c.28T>C, XM_047450156.1:c.184T>C

Select item 96861540015.

rs968615400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:39774879 (GRCh38)
4:39776499 (GRCh37)
Canonical SPDI:: NC_000004.12:39774878:A:G,NC_000004.12:39774878:A:T
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39774879A>G, NC_000004.12:g.39774879A>T, NC_000004.11:g.39776499A>G, NC_000004.11:g.39776499A>T, NM_005339.5:c.345A>G, NM_005339.5:c.345A>T, NM_005339.4:c.345A>G, NM_005339.4:c.345A>T, NM_001312647.2:c.36A>G, NM_001312647.2:c.36A>T, NM_001312647.1:c.36A>G, NM_001312647.1:c.36A>T, NM_001312648.2:c.36A>G, NM_001312648.2:c.36A>T, NM_001312648.1:c.36A>G, NM_001312648.1:c.36A>T, NM_001111112.2:c.345A>G, NM_001111112.2:c.345A>T, NM_001111112.1:c.345A>G, NM_001111112.1:c.345A>T, NM_001111113.2:c.192A>G, NM_001111113.2:c.192A>T, NM_001111113.1:c.192A>G, NM_001111113.1:c.192A>T, XM_047450157.1:c.36A>G, XM_047450157.1:c.36A>T, XM_047450158.1:c.36A>G, XM_047450158.1:c.36A>T, XM_047450156.1:c.192A>G, XM_047450156.1:c.192A>T

Select item 95983905616.

rs959839056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39777759 (GRCh38)
4:39779379 (GRCh37)
Canonical SPDI:: NC_000004.12:39777758:T:C
Gene:: UBE2K (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39777759T>C, NC_000004.11:g.39779379T>C, NM_005339.5:c.477T>C, NM_005339.4:c.477T>C, NM_001312647.2:c.168T>C, NM_001312647.1:c.168T>C, NM_001312648.2:c.168T>C, NM_001312648.1:c.168T>C, NM_001111113.2:c.324T>C, NM_001111113.1:c.324T>C, NM_001312646.2:c.294T>C, NM_001312646.1:c.294T>C, XM_047450157.1:c.168T>C, XM_047450158.1:c.168T>C

Select item 95880348417.

rs958803484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:39778383 (GRCh38)
4:39780003 (GRCh37)
Canonical SPDI:: NC_000004.12:39778382:T:G
Gene:: UBE2K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.39778383T>G, NC_000004.11:g.39780003T>G, NM_005339.5:c.552T>G, NM_005339.4:c.552T>G, NM_001312647.2:c.243T>G, NM_001312647.1:c.243T>G, NM_001312648.2:c.243T>G, NM_001312648.1:c.243T>G, NM_001111112.2:c.423T>G, NM_001111112.1:c.423T>G, NM_001111113.2:c.399T>G, NM_001111113.1:c.399T>G, NM_001312646.2:c.369T>G, NM_001312646.1:c.369T>G, XM_047450157.1:c.243T>G, XM_047450158.1:c.243T>G, XM_047450156.1:c.270T>G

Select item 91076847618.

rs910768476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39774909 (GRCh38)
4:39776529 (GRCh37)
Canonical SPDI:: NC_000004.12:39774908:A:G
Gene:: UBE2K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39774909A>G, NC_000004.11:g.39776529A>G, NM_005339.5:c.375A>G, NM_005339.4:c.375A>G, NM_001312647.2:c.66A>G, NM_001312647.1:c.66A>G, NM_001312648.2:c.66A>G, NM_001312648.1:c.66A>G, NM_001111112.2:c.375A>G, NM_001111112.1:c.375A>G, NM_001111113.2:c.222A>G, NM_001111113.1:c.222A>G, XM_047450157.1:c.66A>G, XM_047450158.1:c.66A>G, XM_047450156.1:c.222A>G

Select item 88664561019.

rs886645610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39774885 (GRCh38)
4:39776505 (GRCh37)
Canonical SPDI:: NC_000004.12:39774884:G:A
Gene:: UBE2K (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000004.12:g.39774885G>A, NC_000004.11:g.39776505G>A, NM_005339.5:c.351G>A, NM_005339.4:c.351G>A, NM_001312647.2:c.42G>A, NM_001312647.1:c.42G>A, NM_001312648.2:c.42G>A, NM_001312648.1:c.42G>A, NM_001111112.2:c.351G>A, NM_001111112.1:c.351G>A, NM_001111113.2:c.198G>A, NM_001111113.1:c.198G>A, XM_047450157.1:c.42G>A, XM_047450158.1:c.42G>A, XM_047450156.1:c.198G>A

Select item 77936123520.

rs779361235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39777783 (GRCh38)
4:39779403 (GRCh37)
Canonical SPDI:: NC_000004.12:39777782:A:G
Gene:: UBE2K (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000008/1 (ExAC)
HGVS:: NC_000004.12:g.39777783A>G, NC_000004.11:g.39779403A>G, NM_005339.5:c.501A>G, NM_005339.4:c.501A>G, NM_001312647.2:c.192A>G, NM_001312647.1:c.192A>G, NM_001312648.2:c.192A>G, NM_001312648.1:c.192A>G, NM_001111113.2:c.348A>G, NM_001111113.1:c.348A>G, NM_001312646.2:c.318A>G, NM_001312646.1:c.318A>G, XM_047450157.1:c.192A>G, XM_047450158.1:c.192A>G

dbSNP

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