SNP Links for Protein (Select 148536836) - SNP

Links from Protein

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Select item 14896194321.

rs1489619432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8138224 (GRCh38)
12:8290820 (GRCh37)
Canonical SPDI:: NC_000012.12:8138223:G:A,NC_000012.12:8138223:G:C
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8138224G>A, NC_000012.12:g.8138224G>C, NC_000012.11:g.8290820G>A, NC_000012.11:g.8290820G>C, NM_016184.4:c.651G>A, NM_016184.4:c.651G>C, NM_016184.3:c.651G>A, NM_016184.3:c.651G>C, XM_011520684.3:c.540G>A, XM_011520684.3:c.540G>C, XM_011520684.2:c.540G>A, XM_011520684.2:c.540G>C, XM_011520684.1:c.540G>A, XM_011520684.1:c.540G>C, XM_017019382.3:c.366G>A, XM_017019382.3:c.366G>C, XM_017019382.2:c.366G>A, XM_017019382.2:c.366G>C, XM_017019382.1:c.366G>A, XM_017019382.1:c.366G>C, NM_194450.3:c.552G>A, NM_194450.3:c.552G>C, NM_194450.2:c.552G>A, NM_194450.2:c.552G>C, NM_194447.3:c.534G>A, NM_194447.3:c.534G>C, NM_194447.2:c.534G>A, NM_194447.2:c.534G>C, NM_194448.3:c.435G>A, NM_194448.3:c.435G>C, NM_194448.2:c.435G>A, NM_194448.2:c.435G>C, NP_057268.1:p.Trp217Ter, NP_057268.1:p.Trp217Cys, XP_011518986.1:p.Trp180Ter, XP_011518986.1:p.Trp180Cys, XP_016874871.1:p.Trp122Ter, XP_016874871.1:p.Trp122Cys, NP_919432.1:p.Trp184Ter, NP_919432.1:p.Trp184Cys, NP_919429.2:p.Trp178Ter, NP_919429.2:p.Trp178Cys, NP_919430.1:p.Trp145Ter, NP_919430.1:p.Trp145Cys

Select item 14862187242.

rs1486218724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8138226 (GRCh38)
12:8290822 (GRCh37)
Canonical SPDI:: NC_000012.12:8138225:A:G
Gene:: CLEC4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.8138226A>G, NC_000012.11:g.8290822A>G, NM_016184.4:c.653A>G, NM_016184.3:c.653A>G, XM_011520684.3:c.542A>G, XM_011520684.2:c.542A>G, XM_011520684.1:c.542A>G, XM_017019382.3:c.368A>G, XM_017019382.2:c.368A>G, XM_017019382.1:c.368A>G, NM_194450.3:c.554A>G, NM_194450.2:c.554A>G, NM_194447.3:c.536A>G, NM_194447.2:c.536A>G, NM_194448.3:c.437A>G, NM_194448.2:c.437A>G, NP_057268.1:p.Asn218Ser, XP_011518986.1:p.Asn181Ser, XP_016874871.1:p.Asn123Ser, NP_919432.1:p.Asn185Ser, NP_919429.2:p.Asn179Ser, NP_919430.1:p.Asn146Ser

Select item 14848602383.

rs1484860238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8136840 (GRCh38)
12:8289436 (GRCh37)
Canonical SPDI:: NC_000012.12:8136839:C:G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8136840C>G, NC_000012.11:g.8289436C>G, NM_016184.4:c.503C>G, NM_016184.3:c.503C>G, XM_011520684.3:c.392C>G, XM_011520684.2:c.392C>G, XM_011520684.1:c.392C>G, XM_017019382.3:c.218C>G, XM_017019382.2:c.218C>G, XM_017019382.1:c.218C>G, NM_194450.3:c.404C>G, NM_194450.2:c.404C>G, NM_194447.3:c.386C>G, NM_194447.2:c.386C>G, NM_194448.3:c.287C>G, NM_194448.2:c.287C>G, NP_057268.1:p.Ser168Ter, XP_011518986.1:p.Ser131Ter, XP_016874871.1:p.Ser73Ter, NP_919432.1:p.Ser135Ter, NP_919429.2:p.Ser129Ter, NP_919430.1:p.Ser96Ter

Select item 14844390934.

rs1484439093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:8135698 (GRCh38)
12:8288294 (GRCh37)
Canonical SPDI:: NC_000012.12:8135697:G:C
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.8135698G>C, NC_000012.11:g.8288294G>C, NM_016184.4:c.412G>C, NM_016184.3:c.412G>C, XM_011520684.3:c.301G>C, XM_011520684.2:c.301G>C, XM_011520684.1:c.301G>C, XM_017019382.3:c.127G>C, XM_017019382.2:c.127G>C, XM_017019382.1:c.127G>C, NM_194450.3:c.313G>C, NM_194450.2:c.313G>C, NM_194447.3:c.295G>C, NM_194447.2:c.295G>C, NM_194448.3:c.196G>C, NM_194448.2:c.196G>C, NP_057268.1:p.Glu138Gln, XP_011518986.1:p.Glu101Gln, XP_016874871.1:p.Glu43Gln, NP_919432.1:p.Glu105Gln, NP_919429.2:p.Glu99Gln, NP_919430.1:p.Glu66Gln

Select item 14825278505.

rs1482527850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:8138215 (GRCh38)
12:8290811 (GRCh37)
Canonical SPDI:: NC_000012.12:8138214:A:T
Gene:: CLEC4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8138215A>T, NC_000012.11:g.8290811A>T, NM_016184.4:c.642A>T, NM_016184.3:c.642A>T, XM_011520684.3:c.531A>T, XM_011520684.2:c.531A>T, XM_011520684.1:c.531A>T, XM_017019382.3:c.357A>T, XM_017019382.2:c.357A>T, XM_017019382.1:c.357A>T, NM_194450.3:c.543A>T, NM_194450.2:c.543A>T, NM_194447.3:c.525A>T, NM_194447.2:c.525A>T, NM_194448.3:c.426A>T, NM_194448.2:c.426A>T, NP_057268.1:p.Arg214Ser, XP_011518986.1:p.Arg177Ser, XP_016874871.1:p.Arg119Ser, NP_919432.1:p.Arg181Ser, NP_919429.2:p.Arg175Ser, NP_919430.1:p.Arg142Ser

Select item 14802405686.

rs1480240568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8136866 (GRCh38)
12:8289462 (GRCh37)
Canonical SPDI:: NC_000012.12:8136865:C:T
Gene:: CLEC4A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8136866C>T, NC_000012.11:g.8289462C>T, NM_016184.4:c.529C>T, NM_016184.3:c.529C>T, XM_011520684.3:c.418C>T, XM_011520684.2:c.418C>T, XM_011520684.1:c.418C>T, XM_017019382.3:c.244C>T, XM_017019382.2:c.244C>T, XM_017019382.1:c.244C>T, NM_194450.3:c.430C>T, NM_194450.2:c.430C>T, NM_194447.3:c.412C>T, NM_194447.2:c.412C>T, NM_194448.3:c.313C>T, NM_194448.2:c.313C>T, NP_057268.1:p.Gln177Ter, XP_011518986.1:p.Gln140Ter, XP_016874871.1:p.Gln82Ter, NP_919432.1:p.Gln144Ter, NP_919429.2:p.Gln138Ter, NP_919430.1:p.Gln105Ter

Select item 14727368007.

rs1472736800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8135683 (GRCh38)
12:8288279 (GRCh37)
Canonical SPDI:: NC_000012.12:8135682:G:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_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_000012.12:g.8135683G>T, NC_000012.11:g.8288279G>T, NM_016184.4:c.397G>T, NM_016184.3:c.397G>T, XM_011520684.3:c.286G>T, XM_011520684.2:c.286G>T, XM_011520684.1:c.286G>T, XM_017019382.3:c.112G>T, XM_017019382.2:c.112G>T, XM_017019382.1:c.112G>T, NM_194450.3:c.298G>T, NM_194450.2:c.298G>T, NM_194447.3:c.280G>T, NM_194447.2:c.280G>T, NM_194448.3:c.181G>T, NM_194448.2:c.181G>T, NP_057268.1:p.Asp133Tyr, XP_011518986.1:p.Asp96Tyr, XP_016874871.1:p.Asp38Tyr, NP_919432.1:p.Asp100Tyr, NP_919429.2:p.Asp94Tyr, NP_919430.1:p.Asp61Tyr

Select item 14720330258.

rs1472033025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8138158 (GRCh38)
12:8290754 (GRCh37)
Canonical SPDI:: NC_000012.12:8138157:G:A,NC_000012.12:8138157:G:C
Gene:: CLEC4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.8138158G>A, NC_000012.12:g.8138158G>C, NC_000012.11:g.8290754G>A, NC_000012.11:g.8290754G>C, NM_016184.4:c.585G>A, NM_016184.4:c.585G>C, NM_016184.3:c.585G>A, NM_016184.3:c.585G>C, XM_011520684.3:c.474G>A, XM_011520684.3:c.474G>C, XM_011520684.2:c.474G>A, XM_011520684.2:c.474G>C, XM_011520684.1:c.474G>A, XM_011520684.1:c.474G>C, XM_017019382.3:c.300G>A, XM_017019382.3:c.300G>C, XM_017019382.2:c.300G>A, XM_017019382.2:c.300G>C, XM_017019382.1:c.300G>A, XM_017019382.1:c.300G>C, NM_194450.3:c.486G>A, NM_194450.3:c.486G>C, NM_194450.2:c.486G>A, NM_194450.2:c.486G>C, NM_194447.3:c.468G>A, NM_194447.3:c.468G>C, NM_194447.2:c.468G>A, NM_194447.2:c.468G>C, NM_194448.3:c.369G>A, NM_194448.3:c.369G>C, NM_194448.2:c.369G>A, NM_194448.2:c.369G>C, NP_057268.1:p.Glu195Asp, XP_011518986.1:p.Glu158Asp, XP_016874871.1:p.Glu100Asp, NP_919432.1:p.Glu162Asp, NP_919429.2:p.Glu156Asp, NP_919430.1:p.Glu123Asp

Select item 14691962099.

rs1469196209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8135640 (GRCh38)
12:8288236 (GRCh37)
Canonical SPDI:: NC_000012.12:8135639:C:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.8135640C>T, NC_000012.11:g.8288236C>T, NM_016184.4:c.354C>T, NM_016184.3:c.354C>T, XM_011520684.3:c.243C>T, XM_011520684.2:c.243C>T, XM_011520684.1:c.243C>T, XM_017019382.3:c.69C>T, XM_017019382.2:c.69C>T, XM_017019382.1:c.69C>T, NM_194450.3:c.255C>T, NM_194450.2:c.255C>T, NM_194447.3:c.237C>T, NM_194447.2:c.237C>T, NM_194448.3:c.138C>T, NM_194448.2:c.138C>T

Select item 146875268510.

rs1468752685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8136812 (GRCh38)
12:8289408 (GRCh37)
Canonical SPDI:: NC_000012.12:8136811:G:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.8136812G>T, NC_000012.11:g.8289408G>T, NM_016184.4:c.475G>T, NM_016184.3:c.475G>T, XM_011520684.3:c.364G>T, XM_011520684.2:c.364G>T, XM_011520684.1:c.364G>T, XM_017019382.3:c.190G>T, XM_017019382.2:c.190G>T, XM_017019382.1:c.190G>T, NM_194450.3:c.376G>T, NM_194450.2:c.376G>T, NM_194447.3:c.358G>T, NM_194447.2:c.358G>T, NM_194448.3:c.259G>T, NM_194448.2:c.259G>T, NP_057268.1:p.Glu159Ter, XP_011518986.1:p.Glu122Ter, XP_016874871.1:p.Glu64Ter, NP_919432.1:p.Glu126Ter, NP_919429.2:p.Glu120Ter, NP_919430.1:p.Glu87Ter

Select item 145959037311.

rs1459590373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8129323 (GRCh38)
12:8281919 (GRCh37)
Canonical SPDI:: NC_000012.12:8129322:A:G
Gene:: CLEC4A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_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_000012.12:g.8129323A>G, NC_000012.11:g.8281919A>G, NM_016184.4:c.259A>G, NM_016184.3:c.259A>G, XM_011520684.3:c.148A>G, XM_011520684.2:c.148A>G, XM_011520684.1:c.148A>G, XM_017019382.3:c.-27A>G, XM_017019382.2:c.-27A>G, XM_017019382.1:c.-27A>G, NM_194447.3:c.142A>G, NM_194447.2:c.142A>G, NP_057268.1:p.Thr87Ala, XP_011518986.1:p.Thr50Ala, NP_919429.2:p.Thr48Ala

Select item 144964457812.

rs1449644578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8129362 (GRCh38)
12:8281958 (GRCh37)
Canonical SPDI:: NC_000012.12:8129361:G:A
Gene:: CLEC4A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8129362G>A, NC_000012.11:g.8281958G>A, NM_016184.4:c.298G>A, NM_016184.3:c.298G>A, XM_011520684.3:c.187G>A, XM_011520684.2:c.187G>A, XM_011520684.1:c.187G>A, XM_017019382.3:c.13G>A, XM_017019382.2:c.13G>A, XM_017019382.1:c.13G>A, NM_194447.3:c.181G>A, NM_194447.2:c.181G>A, NP_057268.1:p.Glu100Lys, XP_011518986.1:p.Glu63Lys, XP_016874871.1:p.Glu5Lys, NP_919429.2:p.Glu61Lys

Select item 142941150713.

rs1429411507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:8138251 (GRCh38)
12:8290847 (GRCh37)
Canonical SPDI:: NC_000012.12:8138250:A:C
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8138251A>C, NC_000012.11:g.8290847A>C, NM_016184.4:c.678A>C, NM_016184.3:c.678A>C, XM_011520684.3:c.567A>C, XM_011520684.2:c.567A>C, XM_011520684.1:c.567A>C, XM_017019382.3:c.393A>C, XM_017019382.2:c.393A>C, XM_017019382.1:c.393A>C, NM_194450.3:c.579A>C, NM_194450.2:c.579A>C, NM_194447.3:c.561A>C, NM_194447.2:c.561A>C, NM_194448.3:c.462A>C, NM_194448.2:c.462A>C, NP_057268.1:p.Gln226His, XP_011518986.1:p.Gln189His, XP_016874871.1:p.Gln131His, NP_919432.1:p.Gln193His, NP_919429.2:p.Gln187His, NP_919430.1:p.Gln154His

Select item 142343637814.

rs1423436378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8123914 (GRCh38)
12:8276510 (GRCh37)
Canonical SPDI:: NC_000012.12:8123913:C:G
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8123914C>G, NC_000012.11:g.8276510C>G, NM_016184.4:c.36C>G, NM_016184.3:c.36C>G, NM_194450.3:c.36C>G, NM_194450.2:c.36C>G, NM_194447.3:c.36C>G, NM_194447.2:c.36C>G, NM_194448.3:c.36C>G, NM_194448.2:c.36C>G, NP_057268.1:p.Phe12Leu, NP_919432.1:p.Phe12Leu, NP_919429.2:p.Phe12Leu, NP_919430.1:p.Phe12Leu

Select item 141934808015.

rs1419348080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8123910 (GRCh38)
12:8276506 (GRCh37)
Canonical SPDI:: NC_000012.12:8123909:G:A
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8123910G>A, NC_000012.11:g.8276506G>A, NM_016184.4:c.32G>A, NM_016184.3:c.32G>A, NM_194450.3:c.32G>A, NM_194450.2:c.32G>A, NM_194447.3:c.32G>A, NM_194447.2:c.32G>A, NM_194448.3:c.32G>A, NM_194448.2:c.32G>A, NP_057268.1:p.Arg11Lys, NP_919432.1:p.Arg11Lys, NP_919429.2:p.Arg11Lys, NP_919430.1:p.Arg11Lys

Select item 141841350516.

rs1418413505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:8123916 (GRCh38)
12:8276512 (GRCh37)
Canonical SPDI:: NC_000012.12:8123915:A:C,NC_000012.12:8123915:A:G
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8123916A>C, NC_000012.12:g.8123916A>G, NC_000012.11:g.8276512A>C, NC_000012.11:g.8276512A>G, NM_016184.4:c.38A>C, NM_016184.4:c.38A>G, NM_016184.3:c.38A>C, NM_016184.3:c.38A>G, NM_194450.3:c.38A>C, NM_194450.3:c.38A>G, NM_194450.2:c.38A>C, NM_194450.2:c.38A>G, NM_194447.3:c.38A>C, NM_194447.3:c.38A>G, NM_194447.2:c.38A>C, NM_194447.2:c.38A>G, NM_194448.3:c.38A>C, NM_194448.3:c.38A>G, NM_194448.2:c.38A>C, NM_194448.2:c.38A>G, NP_057268.1:p.Lys13Thr, NP_057268.1:p.Lys13Arg, NP_919432.1:p.Lys13Thr, NP_919432.1:p.Lys13Arg, NP_919429.2:p.Lys13Thr, NP_919429.2:p.Lys13Arg, NP_919430.1:p.Lys13Thr, NP_919430.1:p.Lys13Arg

Select item 141344458817.

rs1413444588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:8138167 (GRCh38)
12:8290763 (GRCh37)
Canonical SPDI:: NC_000012.12:8138166:T:C
Gene:: CLEC4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8138167T>C, NC_000012.11:g.8290763T>C, NM_016184.4:c.594T>C, NM_016184.3:c.594T>C, XM_011520684.3:c.483T>C, XM_011520684.2:c.483T>C, XM_011520684.1:c.483T>C, XM_017019382.3:c.309T>C, XM_017019382.2:c.309T>C, XM_017019382.1:c.309T>C, NM_194450.3:c.495T>C, NM_194450.2:c.495T>C, NM_194447.3:c.477T>C, NM_194447.2:c.477T>C, NM_194448.3:c.378T>C, NM_194448.2:c.378T>C

Select item 140554740118.

rs1405547401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:8136862 (GRCh38)
12:8289458 (GRCh37)
Canonical SPDI:: NC_000012.12:8136861:T:G
Gene:: CLEC4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8136862T>G, NC_000012.11:g.8289458T>G, NM_016184.4:c.525T>G, NM_016184.3:c.525T>G, XM_011520684.3:c.414T>G, XM_011520684.2:c.414T>G, XM_011520684.1:c.414T>G, XM_017019382.3:c.240T>G, XM_017019382.2:c.240T>G, XM_017019382.1:c.240T>G, NM_194450.3:c.426T>G, NM_194450.2:c.426T>G, NM_194447.3:c.408T>G, NM_194447.2:c.408T>G, NM_194448.3:c.309T>G, NM_194448.2:c.309T>G, NP_057268.1:p.His175Gln, XP_011518986.1:p.His138Gln, XP_016874871.1:p.His80Gln, NP_919432.1:p.His142Gln, NP_919429.2:p.His136Gln, NP_919430.1:p.His103Gln

Select item 140384179219.

rs1403841792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8135633 (GRCh38)
12:8288229 (GRCh37)
Canonical SPDI:: NC_000012.12:8135632:A:G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8135633A>G, NC_000012.11:g.8288229A>G, NM_016184.4:c.347A>G, NM_016184.3:c.347A>G, XM_011520684.3:c.236A>G, XM_011520684.2:c.236A>G, XM_011520684.1:c.236A>G, XM_017019382.3:c.62A>G, XM_017019382.2:c.62A>G, XM_017019382.1:c.62A>G, NM_194450.3:c.248A>G, NM_194450.2:c.248A>G, NM_194447.3:c.230A>G, NM_194447.2:c.230A>G, NM_194448.3:c.131A>G, NM_194448.2:c.131A>G, NP_057268.1:p.Asn116Ser, XP_011518986.1:p.Asn79Ser, XP_016874871.1:p.Asn21Ser, NP_919432.1:p.Asn83Ser, NP_919429.2:p.Asn77Ser, NP_919430.1:p.Asn44Ser

Select item 139606794520.

rs1396067945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:8129272 (GRCh38)
12:8281868 (GRCh37)
Canonical SPDI:: NC_000012.12:8129271:C:A
Gene:: CLEC4A (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8129272C>A, NC_000012.11:g.8281868C>A, NM_016184.4:c.208C>A, NM_016184.3:c.208C>A, XM_011520684.3:c.97C>A, XM_011520684.2:c.97C>A, XM_011520684.1:c.97C>A, XM_017019382.3:c.-78C>A, XM_017019382.2:c.-78C>A, XM_017019382.1:c.-78C>A, NM_194447.3:c.91C>A, NM_194447.2:c.91C>A, NP_057268.1:p.Gln70Lys, XP_011518986.1:p.Gln33Lys, NP_919429.2:p.Gln31Lys

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