SNP Links for Protein (Select 201861813) - SNP

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Links from Protein

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Select item 14880875091.

rs1488087509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:52919244 (GRCh38)
14:53385962 (GRCh37)
Canonical SPDI:: NC_000014.9:52919243:A:G
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52919244A>G, NC_000014.8:g.53385962A>G, XM_006720008.4:c.270T>C, XM_006720008.3:c.270T>C, XM_006720008.2:c.270T>C, XM_006720008.1:c.270T>C, XM_006720009.4:c.270T>C, XM_006720009.3:c.270T>C, XM_006720009.2:c.270T>C, XM_006720009.1:c.270T>C, XM_006720010.4:c.270T>C, XM_006720010.3:c.270T>C, XM_006720010.2:c.270T>C, XM_006720010.1:c.270T>C, XM_005267285.4:c.270T>C, XM_005267285.3:c.270T>C, XM_005267285.2:c.270T>C, XM_005267285.1:c.270T>C, NM_006832.3:c.270T>C, NM_006832.2:c.270T>C, NM_001134999.2:c.270T>C, NM_001134999.1:c.270T>C, NM_001135000.2:c.270T>C, NM_001135000.1:c.270T>C

Select item 14831887282.

rs1483188728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52878644 (GRCh38)
14:53345362 (GRCh37)
Canonical SPDI:: NC_000014.9:52878643:C:T
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52878644C>T, NC_000014.8:g.53345362C>T, XM_006720008.4:c.934G>A, XM_006720008.3:c.934G>A, XM_006720008.2:c.934G>A, XM_006720008.1:c.934G>A, XM_006720009.4:c.934G>A, XM_006720009.3:c.934G>A, XM_006720009.2:c.934G>A, XM_006720009.1:c.934G>A, XM_006720010.4:c.901G>A, XM_006720010.3:c.901G>A, XM_006720010.2:c.901G>A, XM_006720010.1:c.901G>A, XM_005267285.4:c.934G>A, XM_005267285.3:c.934G>A, XM_005267285.2:c.934G>A, XM_005267285.1:c.934G>A, NM_006832.3:c.901G>A, NM_006832.2:c.901G>A, NM_001134999.2:c.901G>A, NM_001134999.1:c.901G>A, NM_001135000.2:c.901G>A, NM_001135000.1:c.901G>A, XP_006720071.1:p.Ala312Thr, XP_006720072.1:p.Ala312Thr, XP_006720073.1:p.Ala301Thr, XP_005267342.1:p.Ala312Thr, NP_006823.1:p.Ala301Thr, NP_001128471.1:p.Ala301Thr, NP_001128472.1:p.Ala301Thr

Select item 14809368393.

rs1480936839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:52859692 (GRCh38)
14:53326410 (GRCh37)
Canonical SPDI:: NC_000014.9:52859691:C:G
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52859692C>G, NC_000014.8:g.53326410C>G, XM_006720008.4:c.1828G>C, XM_006720008.3:c.1828G>C, XM_006720008.2:c.1828G>C, XM_006720008.1:c.1828G>C, XM_006720009.4:c.1804G>C, XM_006720009.3:c.1804G>C, XM_006720009.2:c.1804G>C, XM_006720009.1:c.1804G>C, XM_006720010.4:c.1795G>C, XM_006720010.3:c.1795G>C, XM_006720010.2:c.1795G>C, XM_006720010.1:c.1795G>C, XM_005267285.4:c.1783G>C, XM_005267285.3:c.1783G>C, XM_005267285.2:c.1783G>C, XM_005267285.1:c.1783G>C, NM_006832.3:c.1750G>C, NM_006832.2:c.1750G>C, NM_001134999.2:c.1771G>C, NM_001134999.1:c.1771G>C, NM_001135000.2:c.1771G>C, NM_001135000.1:c.1771G>C, XP_006720071.1:p.Glu610Gln, XP_006720072.1:p.Glu602Gln, XP_006720073.1:p.Glu599Gln, XP_005267342.1:p.Glu595Gln, NP_006823.1:p.Glu584Gln, NP_001128471.1:p.Glu591Gln, NP_001128472.1:p.Glu591Gln

Select item 14777795304.

rs1477779530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:52864401 (GRCh38)
14:53331119 (GRCh37)
Canonical SPDI:: NC_000014.9:52864400:C:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000014.9:g.52864401C>A, NC_000014.8:g.53331119C>A, XM_006720008.4:c.1635G>T, XM_006720008.3:c.1635G>T, XM_006720008.2:c.1635G>T, XM_006720008.1:c.1635G>T, XM_006720009.4:c.1635G>T, XM_006720009.3:c.1635G>T, XM_006720009.2:c.1635G>T, XM_006720009.1:c.1635G>T, XM_006720010.4:c.1602G>T, XM_006720010.3:c.1602G>T, XM_006720010.2:c.1602G>T, XM_006720010.1:c.1602G>T, XM_005267285.4:c.1635G>T, XM_005267285.3:c.1635G>T, XM_005267285.2:c.1635G>T, XM_005267285.1:c.1635G>T, NM_006832.3:c.1602G>T, NM_006832.2:c.1602G>T, NM_001134999.2:c.1602G>T, NM_001134999.1:c.1602G>T, NM_001135000.2:c.1602G>T, NM_001135000.1:c.1602G>T, XP_006720071.1:p.Gln545His, XP_006720072.1:p.Gln545His, XP_006720073.1:p.Gln534His, XP_005267342.1:p.Gln545His, NP_006823.1:p.Gln534His, NP_001128471.1:p.Gln534His, NP_001128472.1:p.Gln534His

Select item 14726108285.

rs1472610828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52878589 (GRCh38)
14:53345307 (GRCh37)
Canonical SPDI:: NC_000014.9:52878588:G:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.52878589G>A, NC_000014.8:g.53345307G>A, XM_006720008.4:c.989C>T, XM_006720008.3:c.989C>T, XM_006720008.2:c.989C>T, XM_006720008.1:c.989C>T, XM_006720009.4:c.989C>T, XM_006720009.3:c.989C>T, XM_006720009.2:c.989C>T, XM_006720009.1:c.989C>T, XM_006720010.4:c.956C>T, XM_006720010.3:c.956C>T, XM_006720010.2:c.956C>T, XM_006720010.1:c.956C>T, XM_005267285.4:c.989C>T, XM_005267285.3:c.989C>T, XM_005267285.2:c.989C>T, XM_005267285.1:c.989C>T, NM_006832.3:c.956C>T, NM_006832.2:c.956C>T, NM_001134999.2:c.956C>T, NM_001134999.1:c.956C>T, NM_001135000.2:c.956C>T, NM_001135000.1:c.956C>T, XP_006720071.1:p.Ala330Val, XP_006720072.1:p.Ala330Val, XP_006720073.1:p.Ala319Val, XP_005267342.1:p.Ala330Val, NP_006823.1:p.Ala319Val, NP_001128471.1:p.Ala319Val, NP_001128472.1:p.Ala319Val

Select item 14668019766.

rs1466801976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:52881067 (GRCh38)
14:53347785 (GRCh37)
Canonical SPDI:: NC_000014.9:52881066:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52881067T>C, NC_000014.8:g.53347785T>C, XM_006720008.4:c.857A>G, XM_006720008.3:c.857A>G, XM_006720008.2:c.857A>G, XM_006720008.1:c.857A>G, XM_006720009.4:c.857A>G, XM_006720009.3:c.857A>G, XM_006720009.2:c.857A>G, XM_006720009.1:c.857A>G, XM_006720010.4:c.824A>G, XM_006720010.3:c.824A>G, XM_006720010.2:c.824A>G, XM_006720010.1:c.824A>G, XM_005267285.4:c.857A>G, XM_005267285.3:c.857A>G, XM_005267285.2:c.857A>G, XM_005267285.1:c.857A>G, NM_006832.3:c.824A>G, NM_006832.2:c.824A>G, NM_001134999.2:c.824A>G, NM_001134999.1:c.824A>G, NM_001135000.2:c.824A>G, NM_001135000.1:c.824A>G, XP_006720071.1:p.Lys286Arg, XP_006720072.1:p.Lys286Arg, XP_006720073.1:p.Lys275Arg, XP_005267342.1:p.Lys286Arg, NP_006823.1:p.Lys275Arg, NP_001128471.1:p.Lys275Arg, NP_001128472.1:p.Lys275Arg

Select item 14639405147.

rs1463940514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52878643 (GRCh38)
14:53345361 (GRCh37)
Canonical SPDI:: NC_000014.9:52878642:G:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000014.9:g.52878643G>A, NC_000014.8:g.53345361G>A, XM_006720008.4:c.935C>T, XM_006720008.3:c.935C>T, XM_006720008.2:c.935C>T, XM_006720008.1:c.935C>T, XM_006720009.4:c.935C>T, XM_006720009.3:c.935C>T, XM_006720009.2:c.935C>T, XM_006720009.1:c.935C>T, XM_006720010.4:c.902C>T, XM_006720010.3:c.902C>T, XM_006720010.2:c.902C>T, XM_006720010.1:c.902C>T, XM_005267285.4:c.935C>T, XM_005267285.3:c.935C>T, XM_005267285.2:c.935C>T, XM_005267285.1:c.935C>T, NM_006832.3:c.902C>T, NM_006832.2:c.902C>T, NM_001134999.2:c.902C>T, NM_001134999.1:c.902C>T, NM_001135000.2:c.902C>T, NM_001135000.1:c.902C>T, XP_006720071.1:p.Ala312Val, XP_006720072.1:p.Ala312Val, XP_006720073.1:p.Ala301Val, XP_005267342.1:p.Ala312Val, NP_006823.1:p.Ala301Val, NP_001128471.1:p.Ala301Val, NP_001128472.1:p.Ala301Val

Select item 14634341568.

rs1463434156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:52864589 (GRCh38)
14:53331307 (GRCh37)
Canonical SPDI:: NC_000014.9:52864588:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.52864589T>C, NC_000014.8:g.53331307T>C, XM_006720008.4:c.1447A>G, XM_006720008.3:c.1447A>G, XM_006720008.2:c.1447A>G, XM_006720008.1:c.1447A>G, XM_006720009.4:c.1447A>G, XM_006720009.3:c.1447A>G, XM_006720009.2:c.1447A>G, XM_006720009.1:c.1447A>G, XM_006720010.4:c.1414A>G, XM_006720010.3:c.1414A>G, XM_006720010.2:c.1414A>G, XM_006720010.1:c.1414A>G, XM_005267285.4:c.1447A>G, XM_005267285.3:c.1447A>G, XM_005267285.2:c.1447A>G, XM_005267285.1:c.1447A>G, NM_006832.3:c.1414A>G, NM_006832.2:c.1414A>G, NM_001134999.2:c.1414A>G, NM_001134999.1:c.1414A>G, NM_001135000.2:c.1414A>G, NM_001135000.1:c.1414A>G, XP_006720071.1:p.Arg483Gly, XP_006720072.1:p.Arg483Gly, XP_006720073.1:p.Arg472Gly, XP_005267342.1:p.Arg483Gly, NP_006823.1:p.Arg472Gly, NP_001128471.1:p.Arg472Gly, NP_001128472.1:p.Arg472Gly

Select item 14627596699.

rs1462759669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:52919241 (GRCh38)
14:53385959 (GRCh37)
Canonical SPDI:: NC_000014.9:52919240:C:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52919241C>A, NC_000014.8:g.53385959C>A, XM_006720008.4:c.273G>T, XM_006720008.3:c.273G>T, XM_006720008.2:c.273G>T, XM_006720008.1:c.273G>T, XM_006720009.4:c.273G>T, XM_006720009.3:c.273G>T, XM_006720009.2:c.273G>T, XM_006720009.1:c.273G>T, XM_006720010.4:c.273G>T, XM_006720010.3:c.273G>T, XM_006720010.2:c.273G>T, XM_006720010.1:c.273G>T, XM_005267285.4:c.273G>T, XM_005267285.3:c.273G>T, XM_005267285.2:c.273G>T, XM_005267285.1:c.273G>T, NM_006832.3:c.273G>T, NM_006832.2:c.273G>T, NM_001134999.2:c.273G>T, NM_001134999.1:c.273G>T, NM_001135000.2:c.273G>T, NM_001135000.1:c.273G>T, XP_006720071.1:p.Gln91His, XP_006720072.1:p.Gln91His, XP_006720073.1:p.Gln91His, XP_005267342.1:p.Gln91His, NP_006823.1:p.Gln91His, NP_001128471.1:p.Gln91His, NP_001128472.1:p.Gln91His

Select item 146251704810.

rs1462517048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:52893424 (GRCh38)
14:53360142 (GRCh37)
Canonical SPDI:: NC_000014.9:52893423:A:G
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52893424A>G, NC_000014.8:g.53360142A>G, XM_006720008.4:c.395T>C, XM_006720008.3:c.395T>C, XM_006720008.2:c.395T>C, XM_006720008.1:c.395T>C, XM_006720009.4:c.395T>C, XM_006720009.3:c.395T>C, XM_006720009.2:c.395T>C, XM_006720009.1:c.395T>C, XM_006720010.4:c.395T>C, XM_006720010.3:c.395T>C, XM_006720010.2:c.395T>C, XM_006720010.1:c.395T>C, XM_005267285.4:c.395T>C, XM_005267285.3:c.395T>C, XM_005267285.2:c.395T>C, XM_005267285.1:c.395T>C, NM_006832.3:c.395T>C, NM_006832.2:c.395T>C, NM_001134999.2:c.395T>C, NM_001134999.1:c.395T>C, NM_001135000.2:c.395T>C, NM_001135000.1:c.395T>C, XP_006720071.1:p.Ile132Thr, XP_006720072.1:p.Ile132Thr, XP_006720073.1:p.Ile132Thr, XP_005267342.1:p.Ile132Thr, NP_006823.1:p.Ile132Thr, NP_001128471.1:p.Ile132Thr, NP_001128472.1:p.Ile132Thr

Select item 145766946211.

rs1457669462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52950428 (GRCh38)
14:53417146 (GRCh37)
Canonical SPDI:: NC_000014.9:52950427:C:T
Gene:: FERMT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52950428C>T, NC_000014.8:g.53417146C>T, XM_006720008.4:c.141G>A, XM_006720008.3:c.141G>A, XM_006720008.2:c.141G>A, XM_006720008.1:c.141G>A, XM_006720009.4:c.141G>A, XM_006720009.3:c.141G>A, XM_006720009.2:c.141G>A, XM_006720009.1:c.141G>A, XM_006720010.4:c.141G>A, XM_006720010.3:c.141G>A, XM_006720010.2:c.141G>A, XM_006720010.1:c.141G>A, XM_005267285.4:c.141G>A, XM_005267285.3:c.141G>A, XM_005267285.2:c.141G>A, XM_005267285.1:c.141G>A, NM_006832.3:c.141G>A, NM_006832.2:c.141G>A, NM_001134999.2:c.141G>A, NM_001134999.1:c.141G>A, NM_001135000.2:c.141G>A, NM_001135000.1:c.141G>A

Select item 145639699412.

rs1456396994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52859620 (GRCh38)
14:53326338 (GRCh37)
Canonical SPDI:: NC_000014.9:52859619:G:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.52859620G>A, NC_000014.8:g.53326338G>A, XM_006720008.4:c.1900C>T, XM_006720008.3:c.1900C>T, XM_006720008.2:c.1900C>T, XM_006720008.1:c.1900C>T, XM_006720009.4:c.1876C>T, XM_006720009.3:c.1876C>T, XM_006720009.2:c.1876C>T, XM_006720009.1:c.1876C>T, XM_006720010.4:c.1867C>T, XM_006720010.3:c.1867C>T, XM_006720010.2:c.1867C>T, XM_006720010.1:c.1867C>T, XM_005267285.4:c.1855C>T, XM_005267285.3:c.1855C>T, XM_005267285.2:c.1855C>T, XM_005267285.1:c.1855C>T, NM_006832.3:c.1822C>T, NM_006832.2:c.1822C>T, NM_001134999.2:c.1843C>T, NM_001134999.1:c.1843C>T, NM_001135000.2:c.1843C>T, NM_001135000.1:c.1843C>T, XP_006720071.1:p.Arg634Cys, XP_006720072.1:p.Arg626Cys, XP_006720073.1:p.Arg623Cys, XP_005267342.1:p.Arg619Cys, NP_006823.1:p.Arg608Cys, NP_001128471.1:p.Arg615Cys, NP_001128472.1:p.Arg615Cys

Select item 145583446513.

rs1455834465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:52872835 (GRCh38)
14:53339553 (GRCh37)
Canonical SPDI:: NC_000014.9:52872834:A:G
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.52872835A>G, NC_000014.8:g.53339553A>G, XM_006720008.4:c.1270T>C, XM_006720008.3:c.1270T>C, XM_006720008.2:c.1270T>C, XM_006720008.1:c.1270T>C, XM_006720009.4:c.1270T>C, XM_006720009.3:c.1270T>C, XM_006720009.2:c.1270T>C, XM_006720009.1:c.1270T>C, XM_006720010.4:c.1237T>C, XM_006720010.3:c.1237T>C, XM_006720010.2:c.1237T>C, XM_006720010.1:c.1237T>C, XM_005267285.4:c.1270T>C, XM_005267285.3:c.1270T>C, XM_005267285.2:c.1270T>C, XM_005267285.1:c.1270T>C, NM_006832.3:c.1237T>C, NM_006832.2:c.1237T>C, NM_001134999.2:c.1237T>C, NM_001134999.1:c.1237T>C, NM_001135000.2:c.1237T>C, NM_001135000.1:c.1237T>C, XP_006720071.1:p.Ser424Pro, XP_006720072.1:p.Ser424Pro, XP_006720073.1:p.Ser413Pro, XP_005267342.1:p.Ser424Pro, NP_006823.1:p.Ser413Pro, NP_001128471.1:p.Ser413Pro, NP_001128472.1:p.Ser413Pro

Select item 145424443114.

rs1454244431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:52919341 (GRCh38)
14:53386059 (GRCh37)
Canonical SPDI:: NC_000014.9:52919340:C:G
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,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_000014.9:g.52919341C>G, NC_000014.8:g.53386059C>G, XM_006720008.4:c.173G>C, XM_006720008.3:c.173G>C, XM_006720008.2:c.173G>C, XM_006720008.1:c.173G>C, XM_006720009.4:c.173G>C, XM_006720009.3:c.173G>C, XM_006720009.2:c.173G>C, XM_006720009.1:c.173G>C, XM_006720010.4:c.173G>C, XM_006720010.3:c.173G>C, XM_006720010.2:c.173G>C, XM_006720010.1:c.173G>C, XM_005267285.4:c.173G>C, XM_005267285.3:c.173G>C, XM_005267285.2:c.173G>C, XM_005267285.1:c.173G>C, NM_006832.3:c.173G>C, NM_006832.2:c.173G>C, NM_001134999.2:c.173G>C, NM_001134999.1:c.173G>C, NM_001135000.2:c.173G>C, NM_001135000.1:c.173G>C, XP_006720071.1:p.Trp58Ser, XP_006720072.1:p.Trp58Ser, XP_006720073.1:p.Trp58Ser, XP_005267342.1:p.Trp58Ser, NP_006823.1:p.Trp58Ser, NP_001128471.1:p.Trp58Ser, NP_001128472.1:p.Trp58Ser

Select item 145401088715.

rs1454010887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:52864617 (GRCh38)
14:53331335 (GRCh37)
Canonical SPDI:: NC_000014.9:52864616:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52864617T>C, NC_000014.8:g.53331335T>C, XM_006720008.4:c.1419A>G, XM_006720008.3:c.1419A>G, XM_006720008.2:c.1419A>G, XM_006720008.1:c.1419A>G, XM_006720009.4:c.1419A>G, XM_006720009.3:c.1419A>G, XM_006720009.2:c.1419A>G, XM_006720009.1:c.1419A>G, XM_006720010.4:c.1386A>G, XM_006720010.3:c.1386A>G, XM_006720010.2:c.1386A>G, XM_006720010.1:c.1386A>G, XM_005267285.4:c.1419A>G, XM_005267285.3:c.1419A>G, XM_005267285.2:c.1419A>G, XM_005267285.1:c.1419A>G, NM_006832.3:c.1386A>G, NM_006832.2:c.1386A>G, NM_001134999.2:c.1386A>G, NM_001134999.1:c.1386A>G, NM_001135000.2:c.1386A>G, NM_001135000.1:c.1386A>G

Select item 145226986716.

rs1452269867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:52878613 (GRCh38)
14:53345331 (GRCh37)
Canonical SPDI:: NC_000014.9:52878612:T:A,NC_000014.9:52878612:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.52878613T>A, NC_000014.9:g.52878613T>C, NC_000014.8:g.53345331T>A, NC_000014.8:g.53345331T>C, XM_006720008.4:c.965A>T, XM_006720008.4:c.965A>G, XM_006720008.3:c.965A>T, XM_006720008.3:c.965A>G, XM_006720008.2:c.965A>T, XM_006720008.2:c.965A>G, XM_006720008.1:c.965A>T, XM_006720008.1:c.965A>G, XM_006720009.4:c.965A>T, XM_006720009.4:c.965A>G, XM_006720009.3:c.965A>T, XM_006720009.3:c.965A>G, XM_006720009.2:c.965A>T, XM_006720009.2:c.965A>G, XM_006720009.1:c.965A>T, XM_006720009.1:c.965A>G, XM_006720010.4:c.932A>T, XM_006720010.4:c.932A>G, XM_006720010.3:c.932A>T, XM_006720010.3:c.932A>G, XM_006720010.2:c.932A>T, XM_006720010.2:c.932A>G, XM_006720010.1:c.932A>T, XM_006720010.1:c.932A>G, XM_005267285.4:c.965A>T, XM_005267285.4:c.965A>G, XM_005267285.3:c.965A>T, XM_005267285.3:c.965A>G, XM_005267285.2:c.965A>T, XM_005267285.2:c.965A>G, XM_005267285.1:c.965A>T, XM_005267285.1:c.965A>G, NM_006832.3:c.932A>T, NM_006832.3:c.932A>G, NM_006832.2:c.932A>T, NM_006832.2:c.932A>G, NM_001134999.2:c.932A>T, NM_001134999.2:c.932A>G, NM_001134999.1:c.932A>T, NM_001134999.1:c.932A>G, NM_001135000.2:c.932A>T, NM_001135000.2:c.932A>G, NM_001135000.1:c.932A>T, NM_001135000.1:c.932A>G, XP_006720071.1:p.Glu322Val, XP_006720071.1:p.Glu322Gly, XP_006720072.1:p.Glu322Val, XP_006720072.1:p.Glu322Gly, XP_006720073.1:p.Glu311Val, XP_006720073.1:p.Glu311Gly, XP_005267342.1:p.Glu322Val, XP_005267342.1:p.Glu322Gly, NP_006823.1:p.Glu311Val, NP_006823.1:p.Glu311Gly, NP_001128471.1:p.Glu311Val, NP_001128471.1:p.Glu311Gly, NP_001128472.1:p.Glu311Val, NP_001128472.1:p.Glu311Gly

Select item 145222216517.

rs1452222165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:52875247 (GRCh38)
14:53341965 (GRCh37)
Canonical SPDI:: NC_000014.9:52875246:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000014.9:g.52875247T>C, NC_000014.8:g.53341965T>C, XM_006720008.4:c.1107A>G, XM_006720008.3:c.1107A>G, XM_006720008.2:c.1107A>G, XM_006720008.1:c.1107A>G, XM_006720009.4:c.1107A>G, XM_006720009.3:c.1107A>G, XM_006720009.2:c.1107A>G, XM_006720009.1:c.1107A>G, XM_006720010.4:c.1074A>G, XM_006720010.3:c.1074A>G, XM_006720010.2:c.1074A>G, XM_006720010.1:c.1074A>G, XM_005267285.4:c.1107A>G, XM_005267285.3:c.1107A>G, XM_005267285.2:c.1107A>G, XM_005267285.1:c.1107A>G, NM_006832.3:c.1074A>G, NM_006832.2:c.1074A>G, NM_001134999.2:c.1074A>G, NM_001134999.1:c.1074A>G, NM_001135000.2:c.1074A>G, NM_001135000.1:c.1074A>G

Select item 145202115918.

rs1452021159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52893331 (GRCh38)
14:53360049 (GRCh37)
Canonical SPDI:: NC_000014.9:52893330:G:A
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52893331G>A, NC_000014.8:g.53360049G>A, XM_006720008.4:c.488C>T, XM_006720008.3:c.488C>T, XM_006720008.2:c.488C>T, XM_006720008.1:c.488C>T, XM_006720009.4:c.488C>T, XM_006720009.3:c.488C>T, XM_006720009.2:c.488C>T, XM_006720009.1:c.488C>T, XM_006720010.4:c.488C>T, XM_006720010.3:c.488C>T, XM_006720010.2:c.488C>T, XM_006720010.1:c.488C>T, XM_005267285.4:c.488C>T, XM_005267285.3:c.488C>T, XM_005267285.2:c.488C>T, XM_005267285.1:c.488C>T, NM_006832.3:c.488C>T, NM_006832.2:c.488C>T, NM_001134999.2:c.488C>T, NM_001134999.1:c.488C>T, NM_001135000.2:c.488C>T, NM_001135000.1:c.488C>T, XP_006720071.1:p.Ala163Val, XP_006720072.1:p.Ala163Val, XP_006720073.1:p.Ala163Val, XP_005267342.1:p.Ala163Val, NP_006823.1:p.Ala163Val, NP_001128471.1:p.Ala163Val, NP_001128472.1:p.Ala163Val

Select item 145131695619.

rs1451316956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:52864776 (GRCh38)
14:53331494 (GRCh37)
Canonical SPDI:: NC_000014.9:52864775:T:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52864776T>C, NC_000014.8:g.53331494T>C, XM_006720008.4:c.1384A>G, XM_006720008.3:c.1384A>G, XM_006720008.2:c.1384A>G, XM_006720008.1:c.1384A>G, XM_006720009.4:c.1384A>G, XM_006720009.3:c.1384A>G, XM_006720009.2:c.1384A>G, XM_006720009.1:c.1384A>G, XM_006720010.4:c.1351A>G, XM_006720010.3:c.1351A>G, XM_006720010.2:c.1351A>G, XM_006720010.1:c.1351A>G, XM_005267285.4:c.1384A>G, XM_005267285.3:c.1384A>G, XM_005267285.2:c.1384A>G, XM_005267285.1:c.1384A>G, NM_006832.3:c.1351A>G, NM_006832.2:c.1351A>G, NM_001134999.2:c.1351A>G, NM_001134999.1:c.1351A>G, NM_001135000.2:c.1351A>G, NM_001135000.1:c.1351A>G, XP_006720071.1:p.Met462Val, XP_006720072.1:p.Met462Val, XP_006720073.1:p.Met451Val, XP_005267342.1:p.Met462Val, NP_006823.1:p.Met451Val, NP_001128471.1:p.Met451Val, NP_001128472.1:p.Met451Val

Select item 144760768920.

rs1447607689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:52864517 (GRCh38)
14:53331235 (GRCh37)
Canonical SPDI:: NC_000014.9:52864516:G:C
Gene:: FERMT2 (Varview), LOC105370500 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52864517G>C, NC_000014.8:g.53331235G>C, XM_006720008.4:c.1519C>G, XM_006720008.3:c.1519C>G, XM_006720008.2:c.1519C>G, XM_006720008.1:c.1519C>G, XM_006720009.4:c.1519C>G, XM_006720009.3:c.1519C>G, XM_006720009.2:c.1519C>G, XM_006720009.1:c.1519C>G, XM_006720010.4:c.1486C>G, XM_006720010.3:c.1486C>G, XM_006720010.2:c.1486C>G, XM_006720010.1:c.1486C>G, XM_005267285.4:c.1519C>G, XM_005267285.3:c.1519C>G, XM_005267285.2:c.1519C>G, XM_005267285.1:c.1519C>G, NM_006832.3:c.1486C>G, NM_006832.2:c.1486C>G, NM_001134999.2:c.1486C>G, NM_001134999.1:c.1486C>G, NM_001135000.2:c.1486C>G, NM_001135000.1:c.1486C>G, XP_006720071.1:p.Leu507Val, XP_006720072.1:p.Leu507Val, XP_006720073.1:p.Leu496Val, XP_005267342.1:p.Leu507Val, NP_006823.1:p.Leu496Val, NP_001128471.1:p.Leu496Val, NP_001128472.1:p.Leu496Val

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