SNP Links for Protein (Select 37675377) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 167

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Select item 14873093131.

rs1487309313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10118549 (GRCh38)
12:10271148 (GRCh37)
Canonical SPDI:: NC_000012.12:10118548:G:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10118549G>A, NC_000012.11:g.10271148G>A, NG_016291.1:g.16721C>T, NM_022570.5:c.515C>T, NM_022570.4:c.515C>T, NM_197947.3:c.653C>T, NM_197947.2:c.653C>T, NM_197948.3:c.534C>T, NM_197948.2:c.534C>T, NM_197950.3:c.416C>T, NM_197950.2:c.416C>T, NM_197949.3:c.396C>T, NM_197949.2:c.396C>T, NR_125336.2:n.857C>T, NR_125336.1:n.927C>T, XM_006719135.4:c.*42C>T, XM_006719135.3:c.*42C>T, XM_006719135.2:c.*42C>T, XM_006719135.1:c.*42C>T, NM_197953.1:c.*439C>T, NM_197952.1:c.*117C>T, XM_047429359.1:c.653C>T, NM_197951.1:c.*126C>T, NP_072092.2:p.Pro172Leu, NP_922938.1:p.Pro218Leu, NP_922941.1:p.Pro139Leu, XP_047285315.1:p.Pro218Leu

Select item 14830551652.

rs1483055165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10125319 (GRCh38)
12:10277918 (GRCh37)
Canonical SPDI:: NC_000012.12:10125318:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10125319T>C, NC_000012.11:g.10277918T>C, NG_016291.1:g.9951A>G, NM_022570.5:c.332A>G, NM_022570.4:c.332A>G, NM_197947.3:c.470A>G, NM_197947.2:c.470A>G, NM_197948.3:c.470A>G, NM_197948.2:c.470A>G, NM_197950.3:c.233A>G, NM_197950.2:c.233A>G, NM_197949.3:c.332A>G, NM_197949.2:c.332A>G, NR_125336.2:n.587A>G, NR_125336.1:n.657A>G, XM_006719135.4:c.470A>G, XM_006719135.3:c.470A>G, XM_006719135.2:c.470A>G, XM_006719135.1:c.470A>G, XM_024449132.2:c.470A>G, XM_024449132.1:c.470A>G, XM_024449133.2:c.332A>G, XM_024449133.1:c.332A>G, NM_197953.1:c.*169A>G, NM_197952.1:c.470A>G, XM_047429359.1:c.470A>G, XM_047429360.1:c.332A>G, NP_072092.2:p.Lys111Arg, NP_922938.1:p.Lys157Arg, NP_922939.1:p.Lys157Arg, NP_922941.1:p.Lys78Arg, NP_922940.1:p.Lys111Arg, XP_006719198.1:p.Lys157Arg, XP_024304900.1:p.Lys157Arg, XP_024304901.1:p.Lys111Arg, XP_047285315.1:p.Lys157Arg, XP_047285316.1:p.Lys111Arg

Select item 14773201943.

rs1477320194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10130027 (GRCh38)
12:10282626 (GRCh37)
Canonical SPDI:: NC_000012.12:10130026:T:C
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10130027T>C, NC_000012.11:g.10282626T>C, NG_016291.1:g.5243A>G, NM_022570.5:c.56A>G, NM_022570.4:c.56A>G, NM_197947.3:c.56A>G, NM_197947.2:c.56A>G, NM_197948.3:c.56A>G, NM_197948.2:c.56A>G, NM_197950.3:c.56A>G, NM_197950.2:c.56A>G, NM_197949.3:c.56A>G, NM_197949.2:c.56A>G, NM_197954.3:c.56A>G, NM_197954.2:c.56A>G, NR_125336.2:n.173A>G, NR_125336.1:n.243A>G, XM_006719135.4:c.56A>G, XM_006719135.3:c.56A>G, XM_006719135.2:c.56A>G, XM_006719135.1:c.56A>G, XM_024449132.2:c.56A>G, XM_024449132.1:c.56A>G, XM_024449133.2:c.56A>G, XM_024449133.1:c.56A>G, NM_197953.1:c.56A>G, NM_197952.1:c.56A>G, XM_047429359.1:c.56A>G, NM_197951.1:c.56A>G, XM_047429360.1:c.56A>G, NP_072092.2:p.His19Arg, NP_922938.1:p.His19Arg, NP_922939.1:p.His19Arg, NP_922941.1:p.His19Arg, NP_922940.1:p.His19Arg, NP_922945.1:p.His19Arg, XP_006719198.1:p.His19Arg, XP_024304900.1:p.His19Arg, XP_024304901.1:p.His19Arg, XP_047285315.1:p.His19Arg, XP_047285316.1:p.His19Arg

Select item 14764658504.

rs1476465850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10130079 (GRCh38)
12:10282678 (GRCh37)
Canonical SPDI:: NC_000012.12:10130078:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10130079C>T, NC_000012.11:g.10282678C>T, NG_016291.1:g.5191G>A, NM_022570.5:c.4G>A, NM_022570.4:c.4G>A, NM_197947.3:c.4G>A, NM_197947.2:c.4G>A, NM_197948.3:c.4G>A, NM_197948.2:c.4G>A, NM_197950.3:c.4G>A, NM_197950.2:c.4G>A, NM_197949.3:c.4G>A, NM_197949.2:c.4G>A, NM_197954.3:c.4G>A, NM_197954.2:c.4G>A, NR_125336.2:n.121G>A, NR_125336.1:n.191G>A, XM_006719135.4:c.4G>A, XM_006719135.3:c.4G>A, XM_006719135.2:c.4G>A, XM_006719135.1:c.4G>A, XM_024449132.2:c.4G>A, XM_024449132.1:c.4G>A, XM_024449133.2:c.4G>A, XM_024449133.1:c.4G>A, NM_197953.1:c.4G>A, NM_197952.1:c.4G>A, XM_047429359.1:c.4G>A, NM_197951.1:c.4G>A, XM_047429360.1:c.4G>A, NP_072092.2:p.Glu2Lys, NP_922938.1:p.Glu2Lys, NP_922939.1:p.Glu2Lys, NP_922941.1:p.Glu2Lys, NP_922940.1:p.Glu2Lys, NP_922945.1:p.Glu2Lys, XP_006719198.1:p.Glu2Lys, XP_024304900.1:p.Glu2Lys, XP_024304901.1:p.Glu2Lys, XP_047285315.1:p.Glu2Lys, XP_047285316.1:p.Glu2Lys

Select item 14644601285.

rs1464460128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10130002 (GRCh38)
12:10282601 (GRCh37)
Canonical SPDI:: NC_000012.12:10130001:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10130002C>T, NC_000012.11:g.10282601C>T, NG_016291.1:g.5268G>A, NM_022570.5:c.81G>A, NM_022570.4:c.81G>A, NM_197947.3:c.81G>A, NM_197947.2:c.81G>A, NM_197948.3:c.81G>A, NM_197948.2:c.81G>A, NM_197950.3:c.81G>A, NM_197950.2:c.81G>A, NM_197949.3:c.81G>A, NM_197949.2:c.81G>A, NM_197954.3:c.81G>A, NM_197954.2:c.81G>A, NR_125336.2:n.198G>A, NR_125336.1:n.268G>A, XM_006719135.4:c.81G>A, XM_006719135.3:c.81G>A, XM_006719135.2:c.81G>A, XM_006719135.1:c.81G>A, XM_024449132.2:c.81G>A, XM_024449132.1:c.81G>A, XM_024449133.2:c.81G>A, XM_024449133.1:c.81G>A, NM_197953.1:c.81G>A, NM_197952.1:c.81G>A, XM_047429359.1:c.81G>A, NM_197951.1:c.81G>A, XM_047429360.1:c.81G>A

Select item 14635595686.

rs1463559568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10129995 (GRCh38)
12:10282594 (GRCh37)
Canonical SPDI:: NC_000012.12:10129994:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.10129995C>T, NC_000012.11:g.10282594C>T, NG_016291.1:g.5275G>A, NM_022570.5:c.88G>A, NM_022570.4:c.88G>A, NM_197947.3:c.88G>A, NM_197947.2:c.88G>A, NM_197948.3:c.88G>A, NM_197948.2:c.88G>A, NM_197950.3:c.88G>A, NM_197950.2:c.88G>A, NM_197949.3:c.88G>A, NM_197949.2:c.88G>A, NM_197954.3:c.88G>A, NM_197954.2:c.88G>A, NR_125336.2:n.205G>A, NR_125336.1:n.275G>A, XM_006719135.4:c.88G>A, XM_006719135.3:c.88G>A, XM_006719135.2:c.88G>A, XM_006719135.1:c.88G>A, XM_024449132.2:c.88G>A, XM_024449132.1:c.88G>A, XM_024449133.2:c.88G>A, XM_024449133.1:c.88G>A, NM_197953.1:c.88G>A, NM_197952.1:c.88G>A, XM_047429359.1:c.88G>A, NM_197951.1:c.88G>A, XM_047429360.1:c.88G>A, NP_072092.2:p.Val30Ile, NP_922938.1:p.Val30Ile, NP_922939.1:p.Val30Ile, NP_922941.1:p.Val30Ile, NP_922940.1:p.Val30Ile, NP_922945.1:p.Val30Ile, XP_006719198.1:p.Val30Ile, XP_024304900.1:p.Val30Ile, XP_024304901.1:p.Val30Ile, XP_047285315.1:p.Val30Ile, XP_047285316.1:p.Val30Ile

Select item 14581822827.

rs1458182282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATCTGAAATCTGTT [Show Flanks]
Chromosome:: 12:10118579 (GRCh38)
12:10271179 (GRCh37)
Canonical SPDI:: NC_000012.12:10118579:TGATCTGAAATCTGTT:TGATCTGAAATCTGTTGATCTGAAATCTGTT
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TGATCTGAAATCTGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10118581_10118595dup, NC_000012.11:g.10271180_10271194dup, NG_016291.1:g.16676_16690dup

Select item 14558058278.

rs1455805827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10127806 (GRCh38)
12:10280405 (GRCh37)
Canonical SPDI:: NC_000012.12:10127805:A:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.10127806A>G, NC_000012.11:g.10280405A>G, NG_016291.1:g.7464T>C, NM_022570.5:c.143T>C, NM_022570.4:c.143T>C, NM_197947.3:c.143T>C, NM_197947.2:c.143T>C, NM_197948.3:c.143T>C, NM_197948.2:c.143T>C, NM_197949.3:c.143T>C, NM_197949.2:c.143T>C, NM_197954.3:c.143T>C, NM_197954.2:c.143T>C, NR_125336.2:n.260T>C, NR_125336.1:n.330T>C, XM_006719135.4:c.143T>C, XM_006719135.3:c.143T>C, XM_006719135.2:c.143T>C, XM_006719135.1:c.143T>C, XM_024449132.2:c.143T>C, XM_024449132.1:c.143T>C, XM_024449133.2:c.143T>C, XM_024449133.1:c.143T>C, NM_197953.1:c.143T>C, NM_197952.1:c.143T>C, XM_047429359.1:c.143T>C, XM_047429360.1:c.143T>C, NP_072092.2:p.Val48Ala, NP_922938.1:p.Val48Ala, NP_922939.1:p.Val48Ala, NP_922940.1:p.Val48Ala, NP_922945.1:p.Val48Ala, XP_006719198.1:p.Val48Ala, XP_024304900.1:p.Val48Ala, XP_024304901.1:p.Val48Ala, XP_047285315.1:p.Val48Ala, XP_047285316.1:p.Val48Ala

Select item 14528464219.

rs1452846421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10125350 (GRCh38)
12:10277949 (GRCh37)
Canonical SPDI:: NC_000012.12:10125349:G:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10125350G>A, NC_000012.11:g.10277949G>A, NG_016291.1:g.9920C>T, NM_022570.5:c.301C>T, NM_022570.4:c.301C>T, NM_197947.3:c.439C>T, NM_197947.2:c.439C>T, NM_197948.3:c.439C>T, NM_197948.2:c.439C>T, NM_197950.3:c.202C>T, NM_197950.2:c.202C>T, NM_197949.3:c.301C>T, NM_197949.2:c.301C>T, NR_125336.2:n.556C>T, NR_125336.1:n.626C>T, XM_006719135.4:c.439C>T, XM_006719135.3:c.439C>T, XM_006719135.2:c.439C>T, XM_006719135.1:c.439C>T, XM_024449132.2:c.439C>T, XM_024449132.1:c.439C>T, XM_024449133.2:c.301C>T, XM_024449133.1:c.301C>T, NM_197953.1:c.*138C>T, NM_197952.1:c.439C>T, XM_047429359.1:c.439C>T, XM_047429360.1:c.301C>T, NP_072092.2:p.Gln101Ter, NP_922938.1:p.Gln147Ter, NP_922939.1:p.Gln147Ter, NP_922941.1:p.Gln68Ter, NP_922940.1:p.Gln101Ter, XP_006719198.1:p.Gln147Ter, XP_024304900.1:p.Gln147Ter, XP_024304901.1:p.Gln101Ter, XP_047285315.1:p.Gln147Ter, XP_047285316.1:p.Gln101Ter

Select item 145224977610.

rs1452249776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:10125361 (GRCh38)
12:10277960 (GRCh37)
Canonical SPDI:: NC_000012.12:10125360:C:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10125361C>G, NC_000012.11:g.10277960C>G, NG_016291.1:g.9909G>C, NM_022570.5:c.290G>C, NM_022570.4:c.290G>C, NM_197947.3:c.428G>C, NM_197947.2:c.428G>C, NM_197948.3:c.428G>C, NM_197948.2:c.428G>C, NM_197950.3:c.191G>C, NM_197950.2:c.191G>C, NM_197949.3:c.290G>C, NM_197949.2:c.290G>C, NR_125336.2:n.545G>C, NR_125336.1:n.615G>C, XM_006719135.4:c.428G>C, XM_006719135.3:c.428G>C, XM_006719135.2:c.428G>C, XM_006719135.1:c.428G>C, XM_024449132.2:c.428G>C, XM_024449132.1:c.428G>C, XM_024449133.2:c.290G>C, XM_024449133.1:c.290G>C, NM_197953.1:c.*127G>C, NM_197952.1:c.428G>C, XM_047429359.1:c.428G>C, XM_047429360.1:c.290G>C, NP_072092.2:p.Gly97Ala, NP_922938.1:p.Gly143Ala, NP_922939.1:p.Gly143Ala, NP_922941.1:p.Gly64Ala, NP_922940.1:p.Gly97Ala, XP_006719198.1:p.Gly143Ala, XP_024304900.1:p.Gly143Ala, XP_024304901.1:p.Gly97Ala, XP_047285315.1:p.Gly143Ala, XP_047285316.1:p.Gly97Ala

Select item 145122424011.

rs1451224240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:10118536 (GRCh38)
12:10271135 (GRCh37)
Canonical SPDI:: NC_000012.12:10118535:C:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_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.10118536C>G, NC_000012.11:g.10271135C>G, NG_016291.1:g.16734G>C, NM_022570.5:c.528G>C, NM_022570.4:c.528G>C, NM_197947.3:c.666G>C, NM_197947.2:c.666G>C, NM_197948.3:c.547G>C, NM_197948.2:c.547G>C, NM_197950.3:c.429G>C, NM_197950.2:c.429G>C, NM_197949.3:c.409G>C, NM_197949.2:c.409G>C, NR_125336.2:n.870G>C, NR_125336.1:n.940G>C, XM_006719135.4:c.*55G>C, XM_006719135.3:c.*55G>C, XM_006719135.2:c.*55G>C, XM_006719135.1:c.*55G>C, NM_197953.1:c.*452G>C, NM_197952.1:c.*130G>C, XM_047429359.1:c.666G>C, NM_197951.1:c.*139G>C, NP_072092.2:p.Trp176Cys, NP_922938.1:p.Trp222Cys, NP_922939.1:p.Asp183His, NP_922941.1:p.Trp143Cys, NP_922940.1:p.Asp137His, XP_047285315.1:p.Trp222Cys

Select item 144909550112.

rs1449095501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10118588 (GRCh38)
12:10271187 (GRCh37)
Canonical SPDI:: NC_000012.12:10118587:A:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10118588A>G, NC_000012.11:g.10271187A>G, NG_016291.1:g.16682T>C, NM_022570.5:c.476T>C, NM_022570.4:c.476T>C, NM_197947.3:c.614T>C, NM_197947.2:c.614T>C, NM_197948.3:c.495T>C, NM_197948.2:c.495T>C, NM_197950.3:c.377T>C, NM_197950.2:c.377T>C, NM_197949.3:c.357T>C, NM_197949.2:c.357T>C, NR_125336.2:n.818T>C, NR_125336.1:n.888T>C, XM_006719135.4:c.*3T>C, XM_006719135.3:c.*3T>C, XM_006719135.2:c.*3T>C, XM_006719135.1:c.*3T>C, NM_197953.1:c.*400T>C, NM_197952.1:c.*78T>C, XM_047429359.1:c.614T>C, NM_197951.1:c.*87T>C, NP_072092.2:p.Phe159Ser, NP_922938.1:p.Phe205Ser, NP_922941.1:p.Phe126Ser, XP_047285315.1:p.Phe205Ser

Select item 144902411513.

rs1449024115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10125446 (GRCh38)
12:10278045 (GRCh37)
Canonical SPDI:: NC_000012.12:10125445:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10125446C>T, NC_000012.11:g.10278045C>T, NG_016291.1:g.9824G>A, NM_022570.5:c.205G>A, NM_022570.4:c.205G>A, NM_197947.3:c.343G>A, NM_197947.2:c.343G>A, NM_197948.3:c.343G>A, NM_197948.2:c.343G>A, NM_197950.3:c.106G>A, NM_197950.2:c.106G>A, NM_197949.3:c.205G>A, NM_197949.2:c.205G>A, NR_125336.2:n.460G>A, NR_125336.1:n.530G>A, XM_006719135.4:c.343G>A, XM_006719135.3:c.343G>A, XM_006719135.2:c.343G>A, XM_006719135.1:c.343G>A, XM_024449132.2:c.343G>A, XM_024449132.1:c.343G>A, XM_024449133.2:c.205G>A, XM_024449133.1:c.205G>A, NM_197953.1:c.*42G>A, NM_197952.1:c.343G>A, XM_047429359.1:c.343G>A, XM_047429360.1:c.205G>A, NP_072092.2:p.Val69Ile, NP_922938.1:p.Val115Ile, NP_922939.1:p.Val115Ile, NP_922941.1:p.Val36Ile, NP_922940.1:p.Val69Ile, XP_006719198.1:p.Val115Ile, XP_024304900.1:p.Val115Ile, XP_024304901.1:p.Val69Ile, XP_047285315.1:p.Val115Ile, XP_047285316.1:p.Val69Ile

Select item 143530163414.

rs1435301634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:10130043 (GRCh38)
12:10282642 (GRCh37)
Canonical SPDI:: NC_000012.12:10130042:C:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10130043C>G, NC_000012.11:g.10282642C>G, NG_016291.1:g.5227G>C, NM_022570.5:c.40G>C, NM_022570.4:c.40G>C, NM_197947.3:c.40G>C, NM_197947.2:c.40G>C, NM_197948.3:c.40G>C, NM_197948.2:c.40G>C, NM_197950.3:c.40G>C, NM_197950.2:c.40G>C, NM_197949.3:c.40G>C, NM_197949.2:c.40G>C, NM_197954.3:c.40G>C, NM_197954.2:c.40G>C, NR_125336.2:n.157G>C, NR_125336.1:n.227G>C, XM_006719135.4:c.40G>C, XM_006719135.3:c.40G>C, XM_006719135.2:c.40G>C, XM_006719135.1:c.40G>C, XM_024449132.2:c.40G>C, XM_024449132.1:c.40G>C, XM_024449133.2:c.40G>C, XM_024449133.1:c.40G>C, NM_197953.1:c.40G>C, NM_197952.1:c.40G>C, XM_047429359.1:c.40G>C, NM_197951.1:c.40G>C, XM_047429360.1:c.40G>C, NP_072092.2:p.Gly14Arg, NP_922938.1:p.Gly14Arg, NP_922939.1:p.Gly14Arg, NP_922941.1:p.Gly14Arg, NP_922940.1:p.Gly14Arg, NP_922945.1:p.Gly14Arg, XP_006719198.1:p.Gly14Arg, XP_024304900.1:p.Gly14Arg, XP_024304901.1:p.Gly14Arg, XP_047285315.1:p.Gly14Arg, XP_047285316.1:p.Gly14Arg

Select item 143034489515.

rs1430344895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10127821 (GRCh38)
12:10280420 (GRCh37)
Canonical SPDI:: NC_000012.12:10127820:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10127821C>T, NC_000012.11:g.10280420C>T, NG_016291.1:g.7449G>A, NM_022570.5:c.128G>A, NM_022570.4:c.128G>A, NM_197947.3:c.128G>A, NM_197947.2:c.128G>A, NM_197948.3:c.128G>A, NM_197948.2:c.128G>A, NM_197949.3:c.128G>A, NM_197949.2:c.128G>A, NM_197954.3:c.128G>A, NM_197954.2:c.128G>A, NR_125336.2:n.245G>A, NR_125336.1:n.315G>A, XM_006719135.4:c.128G>A, XM_006719135.3:c.128G>A, XM_006719135.2:c.128G>A, XM_006719135.1:c.128G>A, XM_024449132.2:c.128G>A, XM_024449132.1:c.128G>A, XM_024449133.2:c.128G>A, XM_024449133.1:c.128G>A, NM_197953.1:c.128G>A, NM_197952.1:c.128G>A, XM_047429359.1:c.128G>A, XM_047429360.1:c.128G>A, NP_072092.2:p.Trp43Ter, NP_922938.1:p.Trp43Ter, NP_922939.1:p.Trp43Ter, NP_922940.1:p.Trp43Ter, NP_922945.1:p.Trp43Ter, XP_006719198.1:p.Trp43Ter, XP_024304900.1:p.Trp43Ter, XP_024304901.1:p.Trp43Ter, XP_047285315.1:p.Trp43Ter, XP_047285316.1:p.Trp43Ter

Select item 142342403816.

rs1423424038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10125400 (GRCh38)
12:10277999 (GRCh37)
Canonical SPDI:: NC_000012.12:10125399:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10125400C>T, NC_000012.11:g.10277999C>T, NG_016291.1:g.9870G>A, NM_022570.5:c.251G>A, NM_022570.4:c.251G>A, NM_197947.3:c.389G>A, NM_197947.2:c.389G>A, NM_197948.3:c.389G>A, NM_197948.2:c.389G>A, NM_197950.3:c.152G>A, NM_197950.2:c.152G>A, NM_197949.3:c.251G>A, NM_197949.2:c.251G>A, NR_125336.2:n.506G>A, NR_125336.1:n.576G>A, XM_006719135.4:c.389G>A, XM_006719135.3:c.389G>A, XM_006719135.2:c.389G>A, XM_006719135.1:c.389G>A, XM_024449132.2:c.389G>A, XM_024449132.1:c.389G>A, XM_024449133.2:c.251G>A, XM_024449133.1:c.251G>A, NM_197953.1:c.*88G>A, NM_197952.1:c.389G>A, XM_047429359.1:c.389G>A, XM_047429360.1:c.251G>A, NP_072092.2:p.Ser84Asn, NP_922938.1:p.Ser130Asn, NP_922939.1:p.Ser130Asn, NP_922941.1:p.Ser51Asn, NP_922940.1:p.Ser84Asn, XP_006719198.1:p.Ser130Asn, XP_024304900.1:p.Ser130Asn, XP_024304901.1:p.Ser84Asn, XP_047285315.1:p.Ser130Asn, XP_047285316.1:p.Ser84Asn

Select item 142279096617.

rs1422790966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:10125386 (GRCh38)
12:10277985 (GRCh37)
Canonical SPDI:: NC_000012.12:10125385:T:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.10125386T>A, NC_000012.11:g.10277985T>A, NG_016291.1:g.9884A>T, NM_022570.5:c.265A>T, NM_022570.4:c.265A>T, NM_197947.3:c.403A>T, NM_197947.2:c.403A>T, NM_197948.3:c.403A>T, NM_197948.2:c.403A>T, NM_197950.3:c.166A>T, NM_197950.2:c.166A>T, NM_197949.3:c.265A>T, NM_197949.2:c.265A>T, NR_125336.2:n.520A>T, NR_125336.1:n.590A>T, XM_006719135.4:c.403A>T, XM_006719135.3:c.403A>T, XM_006719135.2:c.403A>T, XM_006719135.1:c.403A>T, XM_024449132.2:c.403A>T, XM_024449132.1:c.403A>T, XM_024449133.2:c.265A>T, XM_024449133.1:c.265A>T, NM_197953.1:c.*102A>T, NM_197952.1:c.403A>T, XM_047429359.1:c.403A>T, XM_047429360.1:c.265A>T, NP_072092.2:p.Ser89Cys, NP_922938.1:p.Ser135Cys, NP_922939.1:p.Ser135Cys, NP_922941.1:p.Ser56Cys, NP_922940.1:p.Ser89Cys, XP_006719198.1:p.Ser135Cys, XP_024304900.1:p.Ser135Cys, XP_024304901.1:p.Ser89Cys, XP_047285315.1:p.Ser135Cys, XP_047285316.1:p.Ser89Cys

Select item 141830025218.

rs1418300252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10125426 (GRCh38)
12:10278025 (GRCh37)
Canonical SPDI:: NC_000012.12:10125425:A:G
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.10125426A>G, NC_000012.11:g.10278025A>G, NG_016291.1:g.9844T>C, NM_022570.5:c.225T>C, NM_022570.4:c.225T>C, NM_197947.3:c.363T>C, NM_197947.2:c.363T>C, NM_197948.3:c.363T>C, NM_197948.2:c.363T>C, NM_197950.3:c.126T>C, NM_197950.2:c.126T>C, NM_197949.3:c.225T>C, NM_197949.2:c.225T>C, NR_125336.2:n.480T>C, NR_125336.1:n.550T>C, XM_006719135.4:c.363T>C, XM_006719135.3:c.363T>C, XM_006719135.2:c.363T>C, XM_006719135.1:c.363T>C, XM_024449132.2:c.363T>C, XM_024449132.1:c.363T>C, XM_024449133.2:c.225T>C, XM_024449133.1:c.225T>C, NM_197953.1:c.*62T>C, NM_197952.1:c.363T>C, XM_047429359.1:c.363T>C, XM_047429360.1:c.225T>C

Select item 141174932919.

rs1411749329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10127820 (GRCh38)
12:10280419 (GRCh37)
Canonical SPDI:: NC_000012.12:10127819:C:T
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000012.12:g.10127820C>T, NC_000012.11:g.10280419C>T, NG_016291.1:g.7450G>A, NM_022570.5:c.129G>A, NM_022570.4:c.129G>A, NM_197947.3:c.129G>A, NM_197947.2:c.129G>A, NM_197948.3:c.129G>A, NM_197948.2:c.129G>A, NM_197949.3:c.129G>A, NM_197949.2:c.129G>A, NM_197954.3:c.129G>A, NM_197954.2:c.129G>A, NR_125336.2:n.246G>A, NR_125336.1:n.316G>A, XM_006719135.4:c.129G>A, XM_006719135.3:c.129G>A, XM_006719135.2:c.129G>A, XM_006719135.1:c.129G>A, XM_024449132.2:c.129G>A, XM_024449132.1:c.129G>A, XM_024449133.2:c.129G>A, XM_024449133.1:c.129G>A, NM_197953.1:c.129G>A, NM_197952.1:c.129G>A, XM_047429359.1:c.129G>A, XM_047429360.1:c.129G>A, NP_072092.2:p.Trp43Ter, NP_922938.1:p.Trp43Ter, NP_922939.1:p.Trp43Ter, NP_922940.1:p.Trp43Ter, NP_922945.1:p.Trp43Ter, XP_006719198.1:p.Trp43Ter, XP_024304900.1:p.Trp43Ter, XP_024304901.1:p.Trp43Ter, XP_047285315.1:p.Trp43Ter, XP_047285316.1:p.Trp43Ter

Select item 140294720820.

rs1402947208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10129980 (GRCh38)
12:10282579 (GRCh37)
Canonical SPDI:: NC_000012.12:10129979:C:A
Gene:: CLEC7A (Varview), LOC105369655 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.10129980C>A, NC_000012.11:g.10282579C>A, NG_016291.1:g.5290G>T, NM_022570.5:c.103G>T, NM_022570.4:c.103G>T, NM_197947.3:c.103G>T, NM_197947.2:c.103G>T, NM_197948.3:c.103G>T, NM_197948.2:c.103G>T, NM_197950.3:c.103G>T, NM_197950.2:c.103G>T, NM_197949.3:c.103G>T, NM_197949.2:c.103G>T, NM_197954.3:c.103G>T, NM_197954.2:c.103G>T, NR_125336.2:n.220G>T, NR_125336.1:n.290G>T, XM_006719135.4:c.103G>T, XM_006719135.3:c.103G>T, XM_006719135.2:c.103G>T, XM_006719135.1:c.103G>T, XM_024449132.2:c.103G>T, XM_024449132.1:c.103G>T, XM_024449133.2:c.103G>T, XM_024449133.1:c.103G>T, NM_197953.1:c.103G>T, NM_197952.1:c.103G>T, XM_047429359.1:c.103G>T, NM_197951.1:c.103G>T, XM_047429360.1:c.103G>T, NP_072092.2:p.Gly35Ter, NP_922938.1:p.Gly35Ter, NP_922939.1:p.Gly35Ter, NP_922941.1:p.Gly35Trp, NP_922940.1:p.Gly35Ter, NP_922945.1:p.Gly35Ter, XP_006719198.1:p.Gly35Ter, XP_024304900.1:p.Gly35Ter, XP_024304901.1:p.Gly35Ter, XP_047285315.1:p.Gly35Ter, XP_047285316.1:p.Gly35Ter

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