SNP Links for Protein (Select 156627579) - SNP

Links from Protein

Items: 1 to 20 of 201

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Select item 14905957711.

rs1490595771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:45030906 (GRCh38)
3:45072398 (GRCh37)
Canonical SPDI:: NC_000003.12:45030905:G:A
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000003.12:g.45030906G>A, NC_000003.11:g.45072398G>A, NM_003278.3:c.189G>A, NM_003278.2:c.189G>A, NM_001308394.2:c.63G>A, NM_001308394.1:c.63G>A

Select item 14829792112.

rs1482979211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGAGCAGCAGGCCCTGCAGA [Show Flanks]
Chromosome:: 3:45030899 (GRCh38)
3:45072392 (GRCh37)
Canonical SPDI:: NC_000003.12:45030899:GAAGGAGCAGCAGGCCCTGCAGA:GAAGGAGCAGCAGGCCCTGCAGAAGGAGCAGCAGGCCCTGCAGA
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_insertion
Validated:: by frequency
MAF:: GAAGGAGCAGCAGGCCCTGCA=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45030902_45030922dup, NC_000003.11:g.45072394_45072414dup, NM_003278.3:c.185_205dup, NM_003278.2:c.185_205dup, NM_001308394.2:c.59_79dup, NM_001308394.1:c.59_79dup, NP_003269.2:p.Lys62_Gln68dup, NP_001295323.1:p.Lys20_Gln26dup

Select item 14792809863.

rs1479280986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:45035856 (GRCh38)
3:45077348 (GRCh37)
Canonical SPDI:: NC_000003.12:45035855:A:G
Gene:: CLEC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000003.12:g.45035856A>G, NC_000003.11:g.45077348A>G, NM_003278.3:c.541A>G, NM_003278.2:c.541A>G, NM_001308394.2:c.415A>G, NM_001308394.1:c.415A>G, XM_017007116.2:c.442A>G, XM_017007116.1:c.442A>G, NP_003269.2:p.Asn181Asp, NP_001295323.1:p.Asn139Asp, XP_016862605.1:p.Asn148Asp

Select item 14733011104.

rs1473301110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45035648 (GRCh38)
3:45077140 (GRCh37)
Canonical SPDI:: NC_000003.12:45035647:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.45035648C>T, NC_000003.11:g.45077140C>T, NM_003278.3:c.333C>T, NM_003278.2:c.333C>T, NM_001308394.2:c.207C>T, NM_001308394.1:c.207C>T, XM_017007116.2:c.234C>T, XM_017007116.1:c.234C>T

Select item 14722289755.

rs1472228975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:45035775 (GRCh38)
3:45077267 (GRCh37)
Canonical SPDI:: NC_000003.12:45035774:T:A
Gene:: CLEC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45035775T>A, NC_000003.11:g.45077267T>A, NM_003278.3:c.460T>A, NM_003278.2:c.460T>A, NM_001308394.2:c.334T>A, NM_001308394.1:c.334T>A, XM_017007116.2:c.361T>A, XM_017007116.1:c.361T>A, NP_003269.2:p.Tyr154Asn, NP_001295323.1:p.Tyr112Asn, XP_016862605.1:p.Tyr121Asn

Select item 14684756216.

rs1468475621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:45035871 (GRCh38)
3:45077363 (GRCh37)
Canonical SPDI:: NC_000003.12:45035870:G:A,NC_000003.12:45035870:G:C
Gene:: CLEC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.45035871G>A, NC_000003.12:g.45035871G>C, NC_000003.11:g.45077363G>A, NC_000003.11:g.45077363G>C, NM_003278.3:c.556G>A, NM_003278.3:c.556G>C, NM_003278.2:c.556G>A, NM_003278.2:c.556G>C, NM_001308394.2:c.430G>A, NM_001308394.2:c.430G>C, NM_001308394.1:c.430G>A, NM_001308394.1:c.430G>C, XM_017007116.2:c.457G>A, XM_017007116.2:c.457G>C, XM_017007116.1:c.457G>A, XM_017007116.1:c.457G>C, NP_003269.2:p.Asp186Asn, NP_003269.2:p.Asp186His, NP_001295323.1:p.Asp144Asn, NP_001295323.1:p.Asp144His, XP_016862605.1:p.Asp153Asn, XP_016862605.1:p.Asp153His

Select item 14683130067.

rs1468313006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:45035711 (GRCh38)
3:45077203 (GRCh37)
Canonical SPDI:: NC_000003.12:45035710:G:C,NC_000003.12:45035710:G:T
Gene:: CLEC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.001638/3 (Korea1K)
HGVS:: NC_000003.12:g.45035711G>C, NC_000003.12:g.45035711G>T, NC_000003.11:g.45077203G>C, NC_000003.11:g.45077203G>T, NM_003278.3:c.396G>C, NM_003278.3:c.396G>T, NM_003278.2:c.396G>C, NM_003278.2:c.396G>T, NM_001308394.2:c.270G>C, NM_001308394.2:c.270G>T, NM_001308394.1:c.270G>C, NM_001308394.1:c.270G>T, XM_017007116.2:c.297G>C, XM_017007116.2:c.297G>T, XM_017007116.1:c.297G>C, XM_017007116.1:c.297G>T, NP_003269.2:p.Trp132Cys, NP_003269.2:p.Trp132Cys, NP_001295323.1:p.Trp90Cys, NP_001295323.1:p.Trp90Cys, XP_016862605.1:p.Trp99Cys, XP_016862605.1:p.Trp99Cys

Select item 14649845648.

rs1464984564 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAGGAGGGGG [Show Flanks]
Chromosome:: 3:45026470 (GRCh38)
3:45067963 (GRCh37)
Canonical SPDI:: NC_000003.12:45026470:GGTAAGGAGGGGG:GGTAAGGAGGGGGTAAGGAGGGGG
Gene:: CLEC3B (Varview)
Functional Consequence:: splice_donor_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGTAAGGAGGGGGTAAGGAGGGGG=0./0 (ALFA)
GGTAAGGAGGG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.45026473_45026483dup, NC_000003.11:g.45067965_45067975dup

Select item 14585519289.

rs1458551928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:45030834 (GRCh38)
3:45072326 (GRCh37)
Canonical SPDI:: NC_000003.12:45030833:G:A
Gene:: CLEC3B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.45030834G>A, NC_000003.11:g.45072326G>A, NM_003278.3:c.117G>A, NM_003278.2:c.117G>A, NM_001308394.2:c.-10G>A, NM_001308394.1:c.-10G>A

Select item 145852759910.

rs1458527599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45035591 (GRCh38)
3:45077083 (GRCh37)
Canonical SPDI:: NC_000003.12:45035590:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.45035591C>T, NC_000003.11:g.45077083C>T, NM_003278.3:c.276C>T, NM_003278.2:c.276C>T, NM_001308394.2:c.150C>T, NM_001308394.1:c.150C>T, XM_017007116.2:c.177C>T, XM_017007116.1:c.177C>T

Select item 145705915811.

rs1457059158 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CCC [Show Flanks]
Chromosome:: 3:45035662 (GRCh38)
3:45077154 (GRCh37)
Canonical SPDI:: NC_000003.12:45035661:CCC:CC,NC_000003.12:45035661:CCC:CCCCC
Gene:: CLEC3B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CC=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.45035664del, NC_000003.12:g.45035663_45035664dup, NC_000003.11:g.45077156del, NC_000003.11:g.45077155_45077156dup, NM_003278.3:c.349del, NM_003278.3:c.348_349dup, NM_003278.2:c.349del, NM_003278.2:c.348_349dup, NM_001308394.2:c.223del, NM_001308394.2:c.222_223dup, NM_001308394.1:c.223del, NM_001308394.1:c.222_223dup, XM_017007116.2:c.250del, XM_017007116.2:c.249_250dup, XM_017007116.1:c.250del, XM_017007116.1:c.249_250dup, NP_003269.2:p.Leu117fs, NP_003269.2:p.Leu117fs, NP_001295323.1:p.Leu75fs, NP_001295323.1:p.Leu75fs, XP_016862605.1:p.Leu84fs, XP_016862605.1:p.Leu84fs

Select item 145622562812.

rs1456225628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45030919 (GRCh38)
3:45072411 (GRCh37)
Canonical SPDI:: NC_000003.12:45030918:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.45030919C>T, NC_000003.11:g.45072411C>T, NM_003278.3:c.202C>T, NM_003278.2:c.202C>T, NM_001308394.2:c.76C>T, NM_001308394.1:c.76C>T, NP_003269.2:p.Gln68Ter, NP_001295323.1:p.Gln26Ter

Select item 145533464913.

rs1455334649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:45026426 (GRCh38)
3:45067918 (GRCh37)
Canonical SPDI:: NC_000003.12:45026425:G:A
Gene:: CLEC3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.45026426G>A, NC_000003.11:g.45067918G>A, NM_003278.3:c.64G>A, NM_003278.2:c.64G>A, XM_017007116.2:c.64G>A, XM_017007116.1:c.64G>A, NP_003269.2:p.Glu22Lys, XP_016862605.1:p.Glu22Lys

Select item 145530514214.

rs1455305142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:45035658 (GRCh38)
3:45077150 (GRCh37)
Canonical SPDI:: NC_000003.12:45035657:G:A
Gene:: CLEC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45035658G>A, NC_000003.11:g.45077150G>A, NM_003278.3:c.343G>A, NM_003278.2:c.343G>A, NM_001308394.2:c.217G>A, NM_001308394.1:c.217G>A, XM_017007116.2:c.244G>A, XM_017007116.1:c.244G>A, NP_003269.2:p.Asp115Asn, NP_001295323.1:p.Asp73Asn, XP_016862605.1:p.Asp82Asn

Select item 145050759115.

rs1450507591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45035851 (GRCh38)
3:45077343 (GRCh37)
Canonical SPDI:: NC_000003.12:45035850:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.45035851C>T, NC_000003.11:g.45077343C>T, NM_003278.3:c.536C>T, NM_003278.2:c.536C>T, NM_001308394.2:c.410C>T, NM_001308394.1:c.410C>T, XM_017007116.2:c.437C>T, XM_017007116.1:c.437C>T, NP_003269.2:p.Ala179Val, NP_001295323.1:p.Ala137Val, XP_016862605.1:p.Ala146Val

Select item 144962689116.

rs1449626891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45026446 (GRCh38)
3:45067938 (GRCh37)
Canonical SPDI:: NC_000003.12:45026445:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_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)
HGVS:: NC_000003.12:g.45026446C>T, NC_000003.11:g.45067938C>T, NM_003278.3:c.84C>T, NM_003278.2:c.84C>T, XM_017007116.2:c.84C>T, XM_017007116.1:c.84C>T

Select item 144866502217.

rs1448665022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:45035550 (GRCh38)
3:45077042 (GRCh37)
Canonical SPDI:: NC_000003.12:45035549:A:G,NC_000003.12:45035549:A:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000003.12:g.45035550A>G, NC_000003.12:g.45035550A>T, NC_000003.11:g.45077042A>G, NC_000003.11:g.45077042A>T, NM_003278.3:c.235A>G, NM_003278.3:c.235A>T, NM_003278.2:c.235A>G, NM_003278.2:c.235A>T, NM_001308394.2:c.109A>G, NM_001308394.2:c.109A>T, NM_001308394.1:c.109A>G, NM_001308394.1:c.109A>T, XM_017007116.2:c.136A>G, XM_017007116.2:c.136A>T, XM_017007116.1:c.136A>G, XM_017007116.1:c.136A>T, NP_003269.2:p.Met79Val, NP_003269.2:p.Met79Leu, NP_001295323.1:p.Met37Val, NP_001295323.1:p.Met37Leu, XP_016862605.1:p.Met46Val, XP_016862605.1:p.Met46Leu

Select item 144155743518.

rs1441557435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45035836 (GRCh38)
3:45077328 (GRCh37)
Canonical SPDI:: NC_000003.12:45035835:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45035836C>T, NC_000003.11:g.45077328C>T, NM_003278.3:c.521C>T, NM_003278.2:c.521C>T, NM_001308394.2:c.395C>T, NM_001308394.1:c.395C>T, XM_017007116.2:c.422C>T, XM_017007116.1:c.422C>T, NP_003269.2:p.Ala174Val, NP_001295323.1:p.Ala132Val, XP_016862605.1:p.Ala141Val

Select item 144131825719.

rs1441318257 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCA>- [Show Flanks]
Chromosome:: 3:45026432 (GRCh38)
3:45067924 (GRCh37)
Canonical SPDI:: NC_000003.12:45026428:CCACCA:CCA
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45026429CCA[1], NC_000003.11:g.45067921CCA[1], NM_003278.3:c.67CCA[1], NM_003278.2:c.67CCA[1], XM_017007116.2:c.67CCA[1], XM_017007116.1:c.67CCA[1], NP_003269.2:p.Pro24del, XP_016862605.1:p.Pro24del

Select item 143716641020.

rs1437166410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:45026464 (GRCh38)
3:45067956 (GRCh37)
Canonical SPDI:: NC_000003.12:45026463:C:T
Gene:: CLEC3B (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.45026464C>T, NC_000003.11:g.45067956C>T, NM_003278.3:c.102C>T, NM_003278.2:c.102C>T, XM_017007116.2:c.102C>T, XM_017007116.1:c.102C>T

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