SNP Links for Protein (Select 30410043) - SNP

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Links from Protein

Items: 1 to 20 of 139

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Select item 14833398941.

rs1483339894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152664251 (GRCh38)
1:152636727 (GRCh37)
Canonical SPDI:: NC_000001.11:152664250:G:A
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152664251G>A, NC_000001.10:g.152636727G>A, NM_178430.4:c.146G>A, NM_178430.3:c.146G>A, NP_848517.1:p.Gly49Asp

Select item 14399923452.

rs1439992345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152664334 (GRCh38)
1:152636810 (GRCh37)
Canonical SPDI:: NC_000001.11:152664333:A:G
Gene:: LCE2D (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_000001.11:g.152664334A>G, NC_000001.10:g.152636810A>G, NM_178430.4:c.229A>G, NM_178430.3:c.229A>G, NP_848517.1:p.Arg77Gly

Select item 14329936543.

rs1432993654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:152664398 (GRCh38)
1:152636874 (GRCh37)
Canonical SPDI:: NC_000001.11:152664397:G:T
Gene:: LCE2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.152664398G>T, NC_000001.10:g.152636874G>T, NM_178430.4:c.293G>T, NM_178430.3:c.293G>T, NP_848517.1:p.Gly98Val

Select item 14242497734.

rs1424249773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152664143 (GRCh38)
1:152636619 (GRCh37)
Canonical SPDI:: NC_000001.11:152664142:C:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.152664143C>T, NC_000001.10:g.152636619C>T, NM_178430.4:c.38C>T, NM_178430.3:c.38C>T, NP_848517.1:p.Pro13Leu

Select item 14141035095.

rs1414103509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGTCCTCCCAA>- [Show Flanks]
Chromosome:: 1:152664150 (GRCh38)
1:152636626 (GRCh37)
Canonical SPDI:: NC_000001.11:152664141:CCTCCCAAATGTCCTCCCAA:CCTCCCAA
Gene:: LCE2D (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152664150_152664161del, NC_000001.10:g.152636626_152636637del, NM_178430.4:c.45_56del, NM_178430.3:c.45_56del, NP_848517.1:p.13PPKC[1]

Select item 14067519476.

rs1406751947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152664377 (GRCh38)
1:152636853 (GRCh37)
Canonical SPDI:: NC_000001.11:152664376:G:A
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152664377G>A, NC_000001.10:g.152636853G>A, NM_178430.4:c.272G>A, NM_178430.3:c.272G>A, NP_848517.1:p.Cys91Tyr

Select item 14008658617.

rs1400865861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152664382 (GRCh38)
1:152636858 (GRCh37)
Canonical SPDI:: NC_000001.11:152664381:G:A
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.152664382G>A, NC_000001.10:g.152636858G>A, NM_178430.4:c.277G>A, NM_178430.3:c.277G>A, NP_848517.1:p.Glu93Lys

Select item 13956990578.

rs1395699057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:152664307 (GRCh38)
1:152636783 (GRCh37)
Canonical SPDI:: NC_000001.11:152664306:G:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.152664307G>T, NC_000001.10:g.152636783G>T, NM_178430.4:c.202G>T, NM_178430.3:c.202G>T, NP_848517.1:p.Gly68Cys

Select item 13948951149.

rs1394895114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:152664363 (GRCh38)
1:152636839 (GRCh37)
Canonical SPDI:: NC_000001.11:152664362:C:G,NC_000001.11:152664362:C:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.152664363C>G, NC_000001.11:g.152664363C>T, NC_000001.10:g.152636839C>G, NC_000001.10:g.152636839C>T, NM_178430.4:c.258C>G, NM_178430.4:c.258C>T, NM_178430.3:c.258C>G, NM_178430.3:c.258C>T, NP_848517.1:p.His86Gln

Select item 139226814810.

rs1392268148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:152664336 (GRCh38)
1:152636813 (GRCh37)
Canonical SPDI:: NC_000001.11:152664336:CCCC:CCCCC
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152664340dup, NC_000001.10:g.152636816dup, NM_178430.4:c.235dup, NM_178430.3:c.235dup, NP_848517.1:p.Arg79fs

Select item 138924915911.

rs1389249159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152664290 (GRCh38)
1:152636766 (GRCh37)
Canonical SPDI:: NC_000001.11:152664289:G:A
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152664290G>A, NC_000001.10:g.152636766G>A, NM_178430.4:c.185G>A, NM_178430.3:c.185G>A, NP_848517.1:p.Gly62Asp

Select item 137837468312.

rs1378374683 has merged into rs759510261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGTCCCAGCTCTGGGGGCTGCTG>-,TGGTCCCAGCTCTGGGGGCTGCTGTGGTCCCAGCTCTGGGGGCTGCTG [Show Flanks]
Chromosome:: 1:152664273 (GRCh38)
1:152636749 (GRCh37)
Canonical SPDI:: NC_000001.11:152664265:GCTGCTGTGGTCCCAGCTCTGGGGGCTGCTG:GCTGCTG,NC_000001.11:152664265:GCTGCTGTGGTCCCAGCTCTGGGGGCTGCTG:GCTGCTGTGGTCCCAGCTCTGGGGGCTGCTGTGGTCCCAGCTCTGGGGGCTGCTG
Gene:: LCE2D (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000001.11:g.152664273_152664296del, NC_000001.11:g.152664273_152664296dup, NC_000001.10:g.152636749_152636772del, NC_000001.10:g.152636749_152636772dup, NM_178430.4:c.168_191del, NM_178430.4:c.168_191dup, NM_178430.3:c.168_191del, NM_178430.3:c.168_191dup, NP_848517.1:p.Gly57_Cys64del, NP_848517.1:p.Gly57_Cys64dup

Select item 134978075213.

rs1349780752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152664265 (GRCh38)
1:152636741 (GRCh37)
Canonical SPDI:: NC_000001.11:152664264:A:G
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152664265A>G, NC_000001.10:g.152636741A>G, NM_178430.4:c.160A>G, NM_178430.3:c.160A>G, NP_848517.1:p.Ser54Gly

Select item 133937025514.

rs1339370255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:152664249 (GRCh38)
1:152636725 (GRCh37)
Canonical SPDI:: NC_000001.11:152664248:T:G
Gene:: LCE2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.152664249T>G, NC_000001.10:g.152636725T>G, NM_178430.4:c.144T>G, NM_178430.3:c.144T>G, NP_848517.1:p.Cys48Trp

Select item 133072580215.

rs1330725802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:152664288 (GRCh38)
1:152636764 (GRCh37)
Canonical SPDI:: NC_000001.11:152664287:G:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152664288G>T, NC_000001.10:g.152636764G>T, NM_178430.4:c.183G>T, NM_178430.3:c.183G>T

Select item 132976694116.

rs1329766941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:152664231 (GRCh38)
1:152636707 (GRCh37)
Canonical SPDI:: NC_000001.11:152664230:T:G
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152664231T>G, NC_000001.10:g.152636707T>G, NM_178430.4:c.126T>G, NM_178430.3:c.126T>G

Select item 132674127017.

rs1326741270 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:152664375 (GRCh38)
1:152636851 (GRCh37)
Canonical SPDI:: NC_000001.11:152664374:TT:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152664376del, NC_000001.10:g.152636852del, NM_178430.4:c.271del, NM_178430.3:c.271del, NP_848517.1:p.Cys91fs

Select item 131913562718.

rs1319135627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:152664179 (GRCh38)
1:152636655 (GRCh37)
Canonical SPDI:: NC_000001.11:152664178:C:A,NC_000001.11:152664178:C:T
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.152664179C>A, NC_000001.11:g.152664179C>T, NC_000001.10:g.152636655C>A, NC_000001.10:g.152636655C>T, NM_178430.4:c.74C>A, NM_178430.4:c.74C>T, NM_178430.3:c.74C>A, NM_178430.3:c.74C>T, NP_848517.1:p.Pro25Gln, NP_848517.1:p.Pro25Leu

Select item 131465919319.

rs1314659193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:152664278 (GRCh38)
1:152636754 (GRCh37)
Canonical SPDI:: NC_000001.11:152664277:C:G
Gene:: LCE2D (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_000001.11:g.152664278C>G, NC_000001.10:g.152636754C>G, NM_178430.4:c.173C>G, NM_178430.3:c.173C>G, NP_848517.1:p.Pro58Arg

Select item 130309056420.

rs1303090564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:152664282 (GRCh38)
1:152636758 (GRCh37)
Canonical SPDI:: NC_000001.11:152664281:C:A,NC_000001.11:152664281:C:G
Gene:: LCE2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152664282C>A, NC_000001.11:g.152664282C>G, NC_000001.10:g.152636758C>A, NC_000001.10:g.152636758C>G, NM_178430.4:c.177C>A, NM_178430.4:c.177C>G, NM_178430.3:c.177C>A, NM_178430.3:c.177C>G, NP_848517.1:p.Ser59Arg, NP_848517.1:p.Ser59Arg

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