SNP Links for Protein (Select 540344557) - SNP

Select item 14863289731.

rs1486328973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31928058 (GRCh38)
6:31895835 (GRCh37)
Canonical SPDI:: NC_000006.12:31928057:C:T
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31928058C>T, NC_000006.11:g.31895835C>T, NG_011730.1:g.5570C>T, NM_000063.6:c.150C>T, NM_000063.5:c.150C>T, NM_000063.4:c.150C>T, NM_001282458.2:c.35C>T, NM_001282458.1:c.35C>T, NM_001282459.2:c.150C>T, NM_001282459.1:c.150C>T, NT_113891.3:g.3405485C>T, NT_113891.2:g.3405591C>T, NT_167248.2:g.3184032C>T, NT_167248.1:g.3189628C>T, NT_167245.2:g.3175837C>T, NT_167245.1:g.3181422C>T, NT_167249.2:g.3229297C>T, NT_167249.1:g.3228595C>T, NT_167247.2:g.3270145C>T, NT_167247.1:g.3275730C>T, NT_167246.2:g.3233273C>T, NT_167246.1:g.3238893C>T, NP_001269387.1:p.Pro12Leu

Select item 14853455592.

rs1485345559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31928853 (GRCh38)
6:31896630 (GRCh37)
Canonical SPDI:: NC_000006.12:31928852:G:A
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31928853G>A, NC_000006.11:g.31896630G>A, NG_011730.1:g.6365G>A, NM_000063.6:c.378G>A, NM_000063.5:c.378G>A, NM_000063.4:c.378G>A, NM_001282458.2:c.291G>A, NM_001282458.1:c.291G>A, NM_001282459.2:c.378G>A, NM_001282459.1:c.378G>A, NT_113891.3:g.3406280G>A, NT_113891.2:g.3406386G>A, NT_167248.2:g.3184827G>A, NT_167248.1:g.3190423G>A, NT_167245.2:g.3176632G>A, NT_167245.1:g.3182217G>A, NT_167249.2:g.3230092G>A, NT_167249.1:g.3229390G>A, NT_167247.2:g.3270940G>A, NT_167247.1:g.3276525G>A, NT_167246.2:g.3234068G>A, NT_167246.1:g.3239688G>A

Select item 14824086173.

rs1482408617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31934417 (GRCh38)
6:31902194 (GRCh37)
Canonical SPDI:: NC_000006.12:31934416:G:T
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31934417G>T, NC_000006.11:g.31902194G>T, NG_011730.1:g.11929G>T, NM_001282459.2:c.967G>T, NM_001282459.1:c.967G>T, NT_113891.3:g.3411844G>T, NT_113891.2:g.3411950G>T, NT_167248.2:g.3190391G>T, NT_167248.1:g.3195987G>T, NT_167245.2:g.3182196G>T, NT_167245.1:g.3187781G>T, NT_167249.2:g.3235606G>T, NT_167249.1:g.3234904G>T, NT_167247.2:g.3276453G>T, NT_167247.1:g.3282038G>T, NT_167246.2:g.3239383G>T, NT_167246.1:g.3245003G>T, NP_001269388.1:p.Asp323Tyr

Select item 14822670164.

rs1482267016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31928127 (GRCh38)
6:31895904 (GRCh37)
Canonical SPDI:: NC_000006.12:31928126:A:C
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.31928127A>C, NC_000006.11:g.31895904A>C, NG_011730.1:g.5639A>C, NM_000063.6:c.219A>C, NM_000063.5:c.219A>C, NM_000063.4:c.219A>C, NM_001282458.2:c.104A>C, NM_001282458.1:c.104A>C, NM_001282459.2:c.219A>C, NM_001282459.1:c.219A>C, NT_113891.3:g.3405554A>C, NT_113891.2:g.3405660A>C, NT_167248.2:g.3184101A>C, NT_167248.1:g.3189697A>C, NT_167245.2:g.3175906A>C, NT_167245.1:g.3181491A>C, NT_167249.2:g.3229366A>C, NT_167249.1:g.3228664A>C, NT_167247.2:g.3270214A>C, NT_167247.1:g.3275799A>C, NT_167246.2:g.3233342A>C, NT_167246.1:g.3238962A>C, NP_001269387.1:p.Gln35Pro

Select item 14748506485.

rs1474850648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31928789 (GRCh38)
6:31896566 (GRCh37)
Canonical SPDI:: NC_000006.12:31928788:G:T
Gene:: C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31928789G>T, NC_000006.11:g.31896566G>T, NG_011730.1:g.6301G>T, NM_000063.6:c.314G>T, NM_000063.5:c.314G>T, NM_000063.4:c.314G>T, NM_001282458.2:c.227G>T, NM_001282458.1:c.227G>T, NM_001282459.2:c.314G>T, NM_001282459.1:c.314G>T, NT_113891.3:g.3406216G>T, NT_113891.2:g.3406322G>T, NT_167248.2:g.3184763G>T, NT_167248.1:g.3190359G>T, NT_167245.2:g.3176568G>T, NT_167245.1:g.3182153G>T, NT_167249.2:g.3230028G>T, NT_167249.1:g.3229326G>T, NT_167247.2:g.3270876G>T, NT_167247.1:g.3276461G>T, NT_167246.2:g.3234004G>T, NT_167246.1:g.3239624G>T, NP_000054.2:p.Gly105Val, NP_001269387.1:p.Gly76Val, NP_001269388.1:p.Gly105Val

Select item 14714004046.

rs1471400404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31934369 (GRCh38)
6:31902146 (GRCh37)
Canonical SPDI:: NC_000006.12:31934368:C:T
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000006.12:g.31934369C>T, NC_000006.11:g.31902146C>T, NG_011730.1:g.11881C>T, NM_001282459.2:c.919C>T, NM_001282459.1:c.919C>T, NT_113891.3:g.3411796C>T, NT_113891.2:g.3411902C>T, NT_167248.2:g.3190343C>T, NT_167248.1:g.3195939C>T, NT_167245.2:g.3182148C>T, NT_167245.1:g.3187733C>T, NT_167249.2:g.3235558C>T, NT_167249.1:g.3234856C>T, NT_167247.2:g.3276405C>T, NT_167247.1:g.3281990C>T, NT_167246.2:g.3239335C>T, NT_167246.1:g.3244955C>T, NP_001269388.1:p.Leu307Phe

Select item 14675289557.

rs1467528955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31933767 (GRCh38)
6:31901544 (GRCh37)
Canonical SPDI:: NC_000006.12:31933766:G:A
Gene:: C2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31933767G>A, NC_000006.11:g.31901544G>A, NG_011730.1:g.11279G>A, NM_000063.6:c.600G>A, NM_000063.5:c.600G>A, NM_000063.4:c.600G>A, NM_001145903.3:c.204G>A, NM_001145903.2:c.204G>A, NM_001145903.1:c.204G>A, NM_001178063.3:c.231G>A, NM_001178063.2:c.231G>A, NM_001178063.1:c.231G>A, NM_001282458.2:c.513G>A, NM_001282458.1:c.513G>A, NM_001282457.2:c.95G>A, NM_001282457.1:c.95G>A, NM_001282459.2:c.600G>A, NM_001282459.1:c.600G>A, NT_113891.3:g.3411194G>A, NT_113891.2:g.3411300G>A, NT_167248.2:g.3189741G>A, NT_167248.1:g.3195337G>A, NT_167245.2:g.3181546G>A, NT_167245.1:g.3187131G>A, NT_167249.2:g.3234956G>A, NT_167249.1:g.3234254G>A, NT_167247.2:g.3275803G>A, NT_167247.1:g.3281388G>A, NT_167246.2:g.3238733G>A, NT_167246.1:g.3244353G>A, NR_073063.1:n.316G>A, NP_001269386.1:p.Arg32Gln

Select item 14646804658.

rs1464680465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31933750 (GRCh38)
6:31901527 (GRCh37)
Canonical SPDI:: NC_000006.12:31933749:G:A,NC_000006.12:31933749:G:C
Gene:: C2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31933750G>A, NC_000006.12:g.31933750G>C, NC_000006.11:g.31901527G>A, NC_000006.11:g.31901527G>C, NG_011730.1:g.11262G>A, NG_011730.1:g.11262G>C, NM_000063.6:c.583G>A, NM_000063.6:c.583G>C, NM_000063.5:c.583G>A, NM_000063.5:c.583G>C, NM_000063.4:c.583G>A, NM_000063.4:c.583G>C, NM_001145903.3:c.187G>A, NM_001145903.3:c.187G>C, NM_001145903.2:c.187G>A, NM_001145903.2:c.187G>C, NM_001145903.1:c.187G>A, NM_001145903.1:c.187G>C, NM_001178063.3:c.214G>A, NM_001178063.3:c.214G>C, NM_001178063.2:c.214G>A, NM_001178063.2:c.214G>C, NM_001178063.1:c.214G>A, NM_001178063.1:c.214G>C, NM_001282458.2:c.496G>A, NM_001282458.2:c.496G>C, NM_001282458.1:c.496G>A, NM_001282458.1:c.496G>C, NM_001282457.2:c.78G>A, NM_001282457.2:c.78G>C, NM_001282457.1:c.78G>A, NM_001282457.1:c.78G>C, NM_001282459.2:c.583G>A, NM_001282459.2:c.583G>C, NM_001282459.1:c.583G>A, NM_001282459.1:c.583G>C, NT_113891.3:g.3411177G>A, NT_113891.3:g.3411177G>C, NT_113891.2:g.3411283G>A, NT_113891.2:g.3411283G>C, NT_167248.2:g.3189724G>A, NT_167248.2:g.3189724G>C, NT_167248.1:g.3195320G>A, NT_167248.1:g.3195320G>C, NT_167245.2:g.3181529G>A, NT_167245.2:g.3181529G>C, NT_167245.1:g.3187114G>A, NT_167245.1:g.3187114G>C, NT_167249.2:g.3234939G>A, NT_167249.2:g.3234939G>C, NT_167249.1:g.3234237G>A, NT_167249.1:g.3234237G>C, NT_167247.2:g.3275786G>A, NT_167247.2:g.3275786G>C, NT_167247.1:g.3281371G>A, NT_167247.1:g.3281371G>C, NT_167246.2:g.3238716G>A, NT_167246.2:g.3238716G>C, NT_167246.1:g.3244336G>A, NT_167246.1:g.3244336G>C, NR_073063.1:n.299G>A, NR_073063.1:n.299G>C, NP_000054.2:p.Gly195Arg, NP_000054.2:p.Gly195Arg, NP_001139375.1:p.Gly63Arg, NP_001139375.1:p.Gly63Arg, NP_001171534.1:p.Gly72Arg, NP_001171534.1:p.Gly72Arg, NP_001269387.1:p.Gly166Arg, NP_001269387.1:p.Gly166Arg, NP_001269388.1:p.Gly195Arg, NP_001269388.1:p.Gly195Arg

Select item 14614424369.

rs1461442436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31933901 (GRCh38)
6:31901678 (GRCh37)
Canonical SPDI:: NC_000006.12:31933900:C:T
Gene:: C2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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.31933901C>T, NC_000006.11:g.31901678C>T, NG_011730.1:g.11413C>T, NM_000063.6:c.651C>T, NM_000063.5:c.651C>T, NM_000063.4:c.651C>T, NM_001145903.3:c.255C>T, NM_001145903.2:c.255C>T, NM_001145903.1:c.255C>T, NM_001178063.3:c.282C>T, NM_001178063.2:c.282C>T, NM_001178063.1:c.282C>T, NM_001282458.2:c.564C>T, NM_001282458.1:c.564C>T, NM_001282459.2:c.651C>T, NM_001282459.1:c.651C>T, NT_113891.3:g.3411328C>T, NT_113891.2:g.3411434C>T, NT_167248.2:g.3189875C>T, NT_167248.1:g.3195471C>T, NT_167245.2:g.3181680C>T, NT_167245.1:g.3187265C>T, NT_167249.2:g.3235090C>T, NT_167249.1:g.3234388C>T, NT_167247.2:g.3275937C>T, NT_167247.1:g.3281522C>T, NT_167246.2:g.3238867C>T, NT_167246.1:g.3244487C>T

Select item 145497616210.

rs1454976162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31934227 (GRCh38)
6:31902004 (GRCh37)
Canonical SPDI:: NC_000006.12:31934226:G:A
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31934227G>A, NC_000006.11:g.31902004G>A, NG_011730.1:g.11739G>A, NM_000063.6:c.777G>A, NM_000063.5:c.777G>A, NM_000063.4:c.777G>A, NM_001145903.3:c.381G>A, NM_001145903.2:c.381G>A, NM_001145903.1:c.381G>A, NM_001282458.2:c.690G>A, NM_001282458.1:c.690G>A, NM_001282459.2:c.777G>A, NM_001282459.1:c.777G>A, NT_113891.3:g.3411654G>A, NT_113891.2:g.3411760G>A, NT_167248.2:g.3190201G>A, NT_167248.1:g.3195797G>A, NT_167245.2:g.3182006G>A, NT_167245.1:g.3187591G>A, NT_167249.2:g.3235416G>A, NT_167249.1:g.3234714G>A, NT_167247.2:g.3276263G>A, NT_167247.1:g.3281848G>A, NT_167246.2:g.3239193G>A, NT_167246.1:g.3244813G>A

Select item 145463159411.

rs1454631594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31933734 (GRCh38)
6:31901511 (GRCh37)
Canonical SPDI:: NC_000006.12:31933733:G:A
Gene:: C2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31933734G>A, NC_000006.11:g.31901511G>A, NG_011730.1:g.11246G>A, NM_000063.6:c.567G>A, NM_000063.5:c.567G>A, NM_000063.4:c.567G>A, NM_001145903.3:c.171G>A, NM_001145903.2:c.171G>A, NM_001145903.1:c.171G>A, NM_001178063.3:c.198G>A, NM_001178063.2:c.198G>A, NM_001178063.1:c.198G>A, NM_001282458.2:c.480G>A, NM_001282458.1:c.480G>A, NM_001282457.2:c.62G>A, NM_001282457.1:c.62G>A, NM_001282459.2:c.567G>A, NM_001282459.1:c.567G>A, NT_113891.3:g.3411161G>A, NT_113891.2:g.3411267G>A, NT_167248.2:g.3189708G>A, NT_167248.1:g.3195304G>A, NT_167245.2:g.3181513G>A, NT_167245.1:g.3187098G>A, NT_167249.2:g.3234923G>A, NT_167249.1:g.3234221G>A, NT_167247.2:g.3275770G>A, NT_167247.1:g.3281355G>A, NT_167246.2:g.3238700G>A, NT_167246.1:g.3244320G>A, NR_073063.1:n.283G>A, NP_001269386.1:p.Gly21Glu

Select item 144948139912.

rs1449481399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31934359 (GRCh38)
6:31902136 (GRCh37)
Canonical SPDI:: NC_000006.12:31934358:T:C
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31934359T>C, NC_000006.11:g.31902136T>C, NG_011730.1:g.11871T>C, NM_001282459.2:c.909T>C, NM_001282459.1:c.909T>C, NT_113891.3:g.3411786T>C, NT_113891.2:g.3411892T>C, NT_167248.2:g.3190333T>C, NT_167248.1:g.3195929T>C, NT_167245.2:g.3182138T>C, NT_167245.1:g.3187723T>C, NT_167249.2:g.3235548T>C, NT_167249.1:g.3234846T>C, NT_167247.2:g.3276395T>C, NT_167247.1:g.3281980T>C, NT_167246.2:g.3239325T>C, NT_167246.1:g.3244945T>C

Select item 144936983413.

rs1449369834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31928878 (GRCh38)
6:31896655 (GRCh37)
Canonical SPDI:: NC_000006.12:31928877:G:A
Gene:: C2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31928878G>A, NC_000006.11:g.31896655G>A, NG_011730.1:g.6390G>A, NM_000063.6:c.403G>A, NM_000063.5:c.403G>A, NM_000063.4:c.403G>A, NM_001282458.2:c.316G>A, NM_001282458.1:c.316G>A, NM_001282459.2:c.403G>A, NM_001282459.1:c.403G>A, NT_113891.3:g.3406305G>A, NT_113891.2:g.3406411G>A, NT_167248.2:g.3184852G>A, NT_167248.1:g.3190448G>A, NT_167245.2:g.3176657G>A, NT_167245.1:g.3182242G>A, NT_167249.2:g.3230117G>A, NT_167249.1:g.3229415G>A, NT_167247.2:g.3270965G>A, NT_167247.1:g.3276550G>A, NT_167246.2:g.3234093G>A, NT_167246.1:g.3239713G>A, NP_000054.2:p.Gly135Ser, NP_001269387.1:p.Gly106Ser, NP_001269388.1:p.Gly135Ser

Select item 144908135814.

rs1449081358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31934395 (GRCh38)
6:31902172 (GRCh37)
Canonical SPDI:: NC_000006.12:31934394:C:T
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31934395C>T, NC_000006.11:g.31902172C>T, NG_011730.1:g.11907C>T, NM_001282459.2:c.945C>T, NM_001282459.1:c.945C>T, NT_113891.3:g.3411822C>T, NT_113891.2:g.3411928C>T, NT_167248.2:g.3190369C>T, NT_167248.1:g.3195965C>T, NT_167245.2:g.3182174C>T, NT_167245.1:g.3187759C>T, NT_167249.2:g.3235584C>T, NT_167249.1:g.3234882C>T, NT_167247.2:g.3276431C>T, NT_167247.1:g.3282016C>T, NT_167246.2:g.3239361C>T, NT_167246.1:g.3244981C>T

Select item 144003819615.

rs1440038196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31934435 (GRCh38)
6:31902212 (GRCh37)
Canonical SPDI:: NC_000006.12:31934434:T:C
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000023/5 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31934435T>C, NC_000006.11:g.31902212T>C, NG_011730.1:g.11947T>C, NM_001282459.2:c.985T>C, NM_001282459.1:c.985T>C, NT_113891.3:g.3411862T>C, NT_113891.2:g.3411968T>C, NT_167248.2:g.3190409T>C, NT_167248.1:g.3196005T>C, NT_167245.2:g.3182214T>C, NT_167245.1:g.3187799T>C, NT_167249.2:g.3235624T>C, NT_167249.1:g.3234922T>C, NT_167247.2:g.3276471T>C, NT_167247.1:g.3282056T>C, NT_167246.2:g.3239401T>C, NT_167246.1:g.3245021T>C, NP_001269388.1:p.Ter329Gln

Select item 143923681716.

rs1439236817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31927788 (GRCh38)
6:31895565 (GRCh37)
Canonical SPDI:: NC_000006.12:31927787:C:T
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31927788C>T, NC_000006.11:g.31895565C>T, NG_011730.1:g.5300C>T, NM_000063.6:c.36C>T, NM_000063.5:c.36C>T, NM_000063.4:c.36C>T, NM_001145903.3:c.36C>T, NM_001145903.2:c.36C>T, NM_001145903.1:c.36C>T, NM_001282458.2:c.-80C>T, NM_001282458.1:c.-80C>T, NM_001282459.2:c.36C>T, NM_001282459.1:c.36C>T, NT_113891.3:g.3405215C>T, NT_113891.2:g.3405321C>T, NT_167248.2:g.3183762C>T, NT_167248.1:g.3189358C>T, NT_167245.2:g.3175567C>T, NT_167245.1:g.3181152C>T, NT_167249.2:g.3229027C>T, NT_167249.1:g.3228325C>T, NT_167247.2:g.3269875C>T, NT_167247.1:g.3275460C>T, NT_167246.2:g.3233003C>T, NT_167246.1:g.3238623C>T

Select item 143509815217.

rs1435098152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31928155 (GRCh38)
6:31895932 (GRCh37)
Canonical SPDI:: NC_000006.12:31928154:G:T
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31928155G>T, NC_000006.11:g.31895932G>T, NG_011730.1:g.5667G>T, NM_000063.6:c.247G>T, NM_000063.5:c.247G>T, NM_000063.4:c.247G>T, NM_001282458.2:c.132G>T, NM_001282458.1:c.132G>T, NM_001282459.2:c.247G>T, NM_001282459.1:c.247G>T, NT_113891.3:g.3405582G>T, NT_113891.2:g.3405688G>T, NT_167248.2:g.3184129G>T, NT_167248.1:g.3189725G>T, NT_167245.2:g.3175934G>T, NT_167245.1:g.3181519G>T, NT_167249.2:g.3229394G>T, NT_167249.1:g.3228692G>T, NT_167247.2:g.3270242G>T, NT_167247.1:g.3275827G>T, NT_167246.2:g.3233370G>T, NT_167246.1:g.3238990G>T, NP_000054.2:p.Val83Phe, NP_001269388.1:p.Val83Phe

Select item 143445206518.

rs1434452065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31934324 (GRCh38)
6:31902101 (GRCh37)
Canonical SPDI:: NC_000006.12:31934323:A:G
Gene:: C2 (Varview), C2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31934324A>G, NC_000006.11:g.31902101A>G, NG_011730.1:g.11836A>G, NM_001282459.2:c.874A>G, NM_001282459.1:c.874A>G, NT_113891.3:g.3411751A>G, NT_113891.2:g.3411857A>G, NT_167248.2:g.3190298A>G, NT_167248.1:g.3195894A>G, NT_167245.2:g.3182103A>G, NT_167245.1:g.3187688A>G, NT_167249.2:g.3235513A>G, NT_167249.1:g.3234811A>G, NT_167247.2:g.3276360A>G, NT_167247.1:g.3281945A>G, NT_167246.2:g.3239290A>G, NT_167246.1:g.3244910A>G, NP_001269388.1:p.Ser292Gly

Select item 143424606619.

rs1434246066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31927785 (GRCh38)
6:31895562 (GRCh37)
Canonical SPDI:: NC_000006.12:31927784:G:C
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31927785G>C, NC_000006.11:g.31895562G>C, NG_011730.1:g.5297G>C, NM_000063.6:c.33G>C, NM_000063.5:c.33G>C, NM_000063.4:c.33G>C, NM_001145903.3:c.33G>C, NM_001145903.2:c.33G>C, NM_001145903.1:c.33G>C, NM_001282458.2:c.-83G>C, NM_001282458.1:c.-83G>C, NM_001282459.2:c.33G>C, NM_001282459.1:c.33G>C, NT_113891.3:g.3405212G>C, NT_113891.2:g.3405318G>C, NT_167248.2:g.3183759G>C, NT_167248.1:g.3189355G>C, NT_167245.2:g.3175564G>C, NT_167245.1:g.3181149G>C, NT_167249.2:g.3229024G>C, NT_167249.1:g.3228322G>C, NT_167247.2:g.3269872G>C, NT_167247.1:g.3275457G>C, NT_167246.2:g.3233000G>C, NT_167246.1:g.3238620G>C

Select item 143239099020.

rs1432390990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31928874 (GRCh38)
6:31896651 (GRCh37)
Canonical SPDI:: NC_000006.12:31928873:C:T
Gene:: C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.001027/3 (KOREAN)
HGVS:: NC_000006.12:g.31928874C>T, NC_000006.11:g.31896651C>T, NG_011730.1:g.6386C>T, NM_000063.6:c.399C>T, NM_000063.5:c.399C>T, NM_000063.4:c.399C>T, NM_001282458.2:c.312C>T, NM_001282458.1:c.312C>T, NM_001282459.2:c.399C>T, NM_001282459.1:c.399C>T, NT_113891.3:g.3406301C>T, NT_113891.2:g.3406407C>T, NT_167248.2:g.3184848C>T, NT_167248.1:g.3190444C>T, NT_167245.2:g.3176653C>T, NT_167245.1:g.3182238C>T, NT_167249.2:g.3230113C>T, NT_167249.1:g.3229411C>T, NT_167247.2:g.3270961C>T, NT_167247.1:g.3276546C>T, NT_167246.2:g.3234089C>T, NT_167246.1:g.3239709C>T

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Items: 1 to 20 of 320

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