SNP Links for Protein (Select 8393638) - SNP

Links from Protein

Items: 1 to 20 of 273

<< First< Prev

Page of 14

Next >Last >>

Select item 14900215911.

rs1490021591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161000338 (GRCh38)
1:160970128 (GRCh37)
Canonical SPDI:: NC_000001.11:161000337:G:A
Gene:: F11R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161000338G>A, NC_000001.10:g.160970128G>A, NM_016946.6:c.399C>T, NM_016946.5:c.399C>T, NM_016946.4:c.399C>T, NM_001348091.2:c.252C>T, NM_001348091.1:c.252C>T, NM_001382727.1:c.399C>T, NM_001382730.1:c.399C>T, NM_001382733.1:c.399C>T, NM_001382734.1:c.330C>T, NM_144503.1:c.399C>T, NM_144504.1:c.399C>T, NM_144502.1:c.279C>T, NM_144501.1:c.399C>T

Select item 14849447482.

rs1484944748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:160999717 (GRCh38)
1:160969507 (GRCh37)
Canonical SPDI:: NC_000001.11:160999716:G:A,NC_000001.11:160999716:G:C
Gene:: F11R (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=0.000007/1 (GnomAD)
C=0.002183/4 (Korea1K)
HGVS:: NC_000001.11:g.160999717G>A, NC_000001.11:g.160999717G>C, NC_000001.10:g.160969507G>A, NC_000001.10:g.160969507G>C, NM_016946.6:c.725C>T, NM_016946.6:c.725C>G, NM_016946.5:c.725C>T, NM_016946.5:c.725C>G, NM_016946.4:c.725C>T, NM_016946.4:c.725C>G, NM_001348091.2:c.578C>T, NM_001348091.2:c.578C>G, NM_001348091.1:c.578C>T, NM_001348091.1:c.578C>G, NM_001382727.1:c.725C>T, NM_001382727.1:c.725C>G, NM_001382730.1:c.725C>T, NM_001382730.1:c.725C>G, NM_001382733.1:c.695C>T, NM_001382733.1:c.695C>G, NM_001382734.1:c.656C>T, NM_001382734.1:c.656C>G, NM_144503.1:c.725C>T, NM_144503.1:c.725C>G, NM_144504.1:c.725C>T, NM_144504.1:c.725C>G, NM_144502.1:c.605C>T, NM_144502.1:c.605C>G, NM_144501.1:c.725C>T, NM_144501.1:c.725C>G, NP_058642.1:p.Ala242Val, NP_058642.1:p.Ala242Gly, NP_001335020.1:p.Ala193Val, NP_001335020.1:p.Ala193Gly, NP_001369656.1:p.Ala242Val, NP_001369656.1:p.Ala242Gly, NP_001369659.1:p.Ala242Val, NP_001369659.1:p.Ala242Gly, NP_001369662.1:p.Ala232Val, NP_001369662.1:p.Ala232Gly, NP_001369663.1:p.Ala219Val, NP_001369663.1:p.Ala219Gly

Select item 14800441183.

rs1480044118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161000321 (GRCh38)
1:160970111 (GRCh37)
Canonical SPDI:: NC_000001.11:161000320:A:T
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161000321A>T, NC_000001.10:g.160970111A>T, NM_016946.6:c.416T>A, NM_016946.5:c.416T>A, NM_016946.4:c.416T>A, NM_001348091.2:c.269T>A, NM_001348091.1:c.269T>A, NM_001382727.1:c.416T>A, NM_001382730.1:c.416T>A, NM_001382733.1:c.416T>A, NM_001382734.1:c.347T>A, NM_144503.1:c.416T>A, NM_144504.1:c.416T>A, NM_144502.1:c.296T>A, NM_144501.1:c.416T>A, NP_058642.1:p.Ile139Asn, NP_001335020.1:p.Ile90Asn, NP_001369656.1:p.Ile139Asn, NP_001369659.1:p.Ile139Asn, NP_001369662.1:p.Ile139Asn, NP_001369663.1:p.Ile116Asn

Select item 14772855974.

rs1477285597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:161021067 (GRCh38)
1:160990857 (GRCh37)
Canonical SPDI:: NC_000001.11:161021066:T:A,NC_000001.11:161021066:T:C
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.161021067T>A, NC_000001.11:g.161021067T>C, NC_000001.10:g.160990857T>A, NC_000001.10:g.160990857T>C, NM_016946.6:c.7A>T, NM_016946.6:c.7A>G, NM_016946.5:c.7A>T, NM_016946.5:c.7A>G, NM_016946.4:c.7A>T, NM_016946.4:c.7A>G, NM_001348091.2:c.7A>T, NM_001348091.2:c.7A>G, NM_001348091.1:c.7A>T, NM_001348091.1:c.7A>G, NM_001382727.1:c.7A>T, NM_001382727.1:c.7A>G, NM_001382730.1:c.7A>T, NM_001382730.1:c.7A>G, NM_001382733.1:c.7A>T, NM_001382733.1:c.7A>G, NM_001382734.1:c.7A>T, NM_001382734.1:c.7A>G, NM_144503.1:c.7A>T, NM_144503.1:c.7A>G, NM_144504.1:c.7A>T, NM_144504.1:c.7A>G, NM_144502.1:c.7A>T, NM_144502.1:c.7A>G, NM_144501.1:c.7A>T, NM_144501.1:c.7A>G, NP_058642.1:p.Thr3Ser, NP_058642.1:p.Thr3Ala, NP_001335020.1:p.Thr3Ser, NP_001335020.1:p.Thr3Ala, NP_001369656.1:p.Thr3Ser, NP_001369656.1:p.Thr3Ala, NP_001369659.1:p.Thr3Ser, NP_001369659.1:p.Thr3Ala, NP_001369662.1:p.Thr3Ser, NP_001369662.1:p.Thr3Ala, NP_001369663.1:p.Thr3Ser, NP_001369663.1:p.Thr3Ala

Select item 14762276065.

rs1476227606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160999950 (GRCh38)
1:160969740 (GRCh37)
Canonical SPDI:: NC_000001.11:160999949:G:A
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160999950G>A, NC_000001.10:g.160969740G>A, NM_016946.6:c.620C>T, NM_016946.5:c.620C>T, NM_016946.4:c.620C>T, NM_001348091.2:c.473C>T, NM_001348091.1:c.473C>T, NM_001382727.1:c.620C>T, NM_001382730.1:c.620C>T, NM_001382733.1:c.620C>T, NM_001382734.1:c.551C>T, NM_144503.1:c.620C>T, NM_144504.1:c.620C>T, NM_144502.1:c.500C>T, NM_144501.1:c.620C>T, NP_058642.1:p.Thr207Ile, NP_001335020.1:p.Thr158Ile, NP_001369656.1:p.Thr207Ile, NP_001369659.1:p.Thr207Ile, NP_001369662.1:p.Thr207Ile, NP_001369663.1:p.Thr184Ile

Select item 14711117726.

rs1471111772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161000276 (GRCh38)
1:160970066 (GRCh37)
Canonical SPDI:: NC_000001.11:161000275:G:A,NC_000001.11:161000275:G:T
Gene:: F11R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.161000276G>A, NC_000001.11:g.161000276G>T, NC_000001.10:g.160970066G>A, NC_000001.10:g.160970066G>T, NM_016946.6:c.461C>T, NM_016946.6:c.461C>A, NM_016946.5:c.461C>T, NM_016946.5:c.461C>A, NM_016946.4:c.461C>T, NM_016946.4:c.461C>A, NM_001348091.2:c.314C>T, NM_001348091.2:c.314C>A, NM_001348091.1:c.314C>T, NM_001348091.1:c.314C>A, NM_001382727.1:c.461C>T, NM_001382727.1:c.461C>A, NM_001382730.1:c.461C>T, NM_001382730.1:c.461C>A, NM_001382733.1:c.461C>T, NM_001382733.1:c.461C>A, NM_001382734.1:c.392C>T, NM_001382734.1:c.392C>A, NM_144503.1:c.461C>T, NM_144503.1:c.461C>A, NM_144504.1:c.461C>T, NM_144504.1:c.461C>A, NM_144502.1:c.341C>T, NM_144502.1:c.341C>A, NM_144501.1:c.461C>T, NM_144501.1:c.461C>A, NP_058642.1:p.Ser154Leu, NP_058642.1:p.Ser154Ter, NP_001335020.1:p.Ser105Leu, NP_001335020.1:p.Ser105Ter, NP_001369656.1:p.Ser154Leu, NP_001369656.1:p.Ser154Ter, NP_001369659.1:p.Ser154Leu, NP_001369659.1:p.Ser154Ter, NP_001369662.1:p.Ser154Leu, NP_001369662.1:p.Ser154Ter, NP_001369663.1:p.Ser131Leu, NP_001369663.1:p.Ser131Ter

Select item 14533035837.

rs1453303583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160998880 (GRCh38)
1:160968670 (GRCh37)
Canonical SPDI:: NC_000001.11:160998879:G:T
Gene:: F11R (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.160998880G>T, NC_000001.10:g.160968670G>T, NM_016946.6:c.891C>A, NM_016946.5:c.891C>A, NM_016946.4:c.891C>A, NM_001348091.2:c.744C>A, NM_001348091.1:c.744C>A, NM_001382727.1:c.975C>A, NM_001382730.1:c.876C>A, NM_001382733.1:c.861C>A, NM_001382734.1:c.822C>A, NM_144503.1:c.891C>A, NM_144504.1:c.891C>A, NM_144502.1:c.771C>A, NM_144501.1:c.891C>A, NP_058642.1:p.Phe297Leu, NP_001335020.1:p.Phe248Leu, NP_001369656.1:p.Phe325Leu, NP_001369659.1:p.Phe292Leu, NP_001369662.1:p.Phe287Leu, NP_001369663.1:p.Phe274Leu

Select item 14514266128.

rs1451426612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160999706 (GRCh38)
1:160969496 (GRCh37)
Canonical SPDI:: NC_000001.11:160999705:T:C
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160999706T>C, NC_000001.10:g.160969496T>C, NM_016946.6:c.736A>G, NM_016946.5:c.736A>G, NM_016946.4:c.736A>G, NM_001348091.2:c.589A>G, NM_001348091.1:c.589A>G, NM_001382727.1:c.736A>G, NM_001382730.1:c.736A>G, NM_001382733.1:c.706A>G, NM_001382734.1:c.667A>G, NM_144503.1:c.736A>G, NM_144504.1:c.736A>G, NM_144502.1:c.616A>G, NM_144501.1:c.736A>G, NP_058642.1:p.Thr246Ala, NP_001335020.1:p.Thr197Ala, NP_001369656.1:p.Thr246Ala, NP_001369659.1:p.Thr246Ala, NP_001369662.1:p.Thr236Ala, NP_001369663.1:p.Thr223Ala

Select item 14512813559.

rs1451281355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161000724 (GRCh38)
1:160970514 (GRCh37)
Canonical SPDI:: NC_000001.11:161000723:C:T
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161000724C>T, NC_000001.10:g.160970514C>T, NM_016946.6:c.295G>A, NM_016946.5:c.295G>A, NM_016946.4:c.295G>A, NM_001382727.1:c.295G>A, NM_001382730.1:c.295G>A, NM_001382733.1:c.295G>A, NM_001382734.1:c.226G>A, NM_144503.1:c.295G>A, NM_144504.1:c.295G>A, NM_144502.1:c.175G>A, NM_144501.1:c.295G>A, NP_058642.1:p.Val99Met, NP_001369656.1:p.Val99Met, NP_001369659.1:p.Val99Met, NP_001369662.1:p.Val99Met, NP_001369663.1:p.Val76Met

Select item 144444396810.

rs1444443968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161000152 (GRCh38)
1:160969942 (GRCh37)
Canonical SPDI:: NC_000001.11:161000151:T:C
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.161000152T>C, NC_000001.10:g.160969942T>C, NM_016946.6:c.585A>G, NM_016946.5:c.585A>G, NM_016946.4:c.585A>G, NM_001348091.2:c.438A>G, NM_001348091.1:c.438A>G, NM_001382727.1:c.585A>G, NM_001382730.1:c.585A>G, NM_001382733.1:c.585A>G, NM_001382734.1:c.516A>G, NM_144503.1:c.585A>G, NM_144504.1:c.585A>G, NM_144502.1:c.465A>G, NM_144501.1:c.585A>G

Select item 143792843411.

rs1437928434 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:160999662 (GRCh38)
1:160969452 (GRCh37)
Canonical SPDI:: NC_000001.11:160999661:GG:G
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160999663del, NC_000001.10:g.160969453del, NM_016946.6:c.780del, NM_016946.5:c.780del, NM_016946.4:c.780del, NM_001348091.2:c.633del, NM_001348091.1:c.633del, NM_001382727.1:c.780del, NM_001382730.1:c.780del, NM_001382733.1:c.750del, NM_001382734.1:c.711del, NM_144503.1:c.780del, NM_144504.1:c.780del, NM_144502.1:c.660del, NM_144501.1:c.780del, NP_058642.1:p.Tyr261fs, NP_001335020.1:p.Tyr212fs, NP_001369656.1:p.Tyr261fs, NP_001369659.1:p.Tyr261fs, NP_001369662.1:p.Tyr251fs, NP_001369663.1:p.Tyr238fs

Select item 143072499712.

rs1430724997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161021066 (GRCh38)
1:160990856 (GRCh37)
Canonical SPDI:: NC_000001.11:161021065:G:A
Gene:: F11R (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161021066G>A, NC_000001.10:g.160990856G>A, NM_016946.6:c.8C>T, NM_016946.5:c.8C>T, NM_016946.4:c.8C>T, NM_001348091.2:c.8C>T, NM_001348091.1:c.8C>T, NM_001382727.1:c.8C>T, NM_001382730.1:c.8C>T, NM_001382733.1:c.8C>T, NM_001382734.1:c.8C>T, NM_144503.1:c.8C>T, NM_144504.1:c.8C>T, NM_144502.1:c.8C>T, NM_144501.1:c.8C>T, NP_058642.1:p.Thr3Ile, NP_001335020.1:p.Thr3Ile, NP_001369656.1:p.Thr3Ile, NP_001369659.1:p.Thr3Ile, NP_001369662.1:p.Thr3Ile, NP_001369663.1:p.Thr3Ile

Select item 143048986613.

rs1430489866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161000344 (GRCh38)
1:160970134 (GRCh37)
Canonical SPDI:: NC_000001.11:161000343:A:G
Gene:: F11R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161000344A>G, NC_000001.10:g.160970134A>G, NM_016946.6:c.393T>C, NM_016946.5:c.393T>C, NM_016946.4:c.393T>C, NM_001348091.2:c.246T>C, NM_001348091.1:c.246T>C, NM_001382727.1:c.393T>C, NM_001382730.1:c.393T>C, NM_001382733.1:c.393T>C, NM_001382734.1:c.324T>C, NM_144503.1:c.393T>C, NM_144504.1:c.393T>C, NM_144502.1:c.273T>C, NM_144501.1:c.393T>C

Select item 142580938014.

rs1425809380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160999964 (GRCh38)
1:160969754 (GRCh37)
Canonical SPDI:: NC_000001.11:160999963:C:A
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000041/5 (ExAC)
A=0.00006/15 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160999964C>A, NC_000001.10:g.160969754C>A, NM_016946.6:c.606G>T, NM_016946.5:c.606G>T, NM_016946.4:c.606G>T, NM_001348091.2:c.459G>T, NM_001348091.1:c.459G>T, NM_001382727.1:c.606G>T, NM_001382730.1:c.606G>T, NM_001382733.1:c.606G>T, NM_001382734.1:c.537G>T, NM_144503.1:c.606G>T, NM_144504.1:c.606G>T, NM_144502.1:c.486G>T, NM_144501.1:c.606G>T

Select item 141960732515.

rs1419607325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160998892 (GRCh38)
1:160968682 (GRCh37)
Canonical SPDI:: NC_000001.11:160998891:C:G
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160998892C>G, NC_000001.10:g.160968682C>G, NM_016946.6:c.879G>C, NM_016946.5:c.879G>C, NM_016946.4:c.879G>C, NM_001348091.2:c.732G>C, NM_001348091.1:c.732G>C, NM_001382727.1:c.963G>C, NM_001382733.1:c.849G>C, NM_001382734.1:c.810G>C, NM_144503.1:c.879G>C, NM_144504.1:c.879G>C, NM_144502.1:c.759G>C, NM_144501.1:c.879G>C, NP_058642.1:p.Gln293His, NP_001335020.1:p.Gln244His, NP_001369656.1:p.Gln321His, NP_001369662.1:p.Gln283His, NP_001369663.1:p.Gln270His

Select item 141445376616.

rs1414453766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161000695 (GRCh38)
1:160970485 (GRCh37)
Canonical SPDI:: NC_000001.11:161000694:A:G
Gene:: F11R (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161000695A>G, NC_000001.10:g.160970485A>G, NM_016946.6:c.324T>C, NM_016946.5:c.324T>C, NM_016946.4:c.324T>C, NM_001382727.1:c.324T>C, NM_001382730.1:c.324T>C, NM_001382733.1:c.324T>C, NM_001382734.1:c.255T>C, NM_144503.1:c.324T>C, NM_144504.1:c.324T>C, NM_144502.1:c.204T>C, NM_144501.1:c.324T>C

Select item 141116623117.

rs1411166231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160999884 (GRCh38)
1:160969674 (GRCh37)
Canonical SPDI:: NC_000001.11:160999883:A:G
Gene:: F11R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160999884A>G, NC_000001.10:g.160969674A>G, NM_016946.6:c.686T>C, NM_016946.5:c.686T>C, NM_016946.4:c.686T>C, NM_001348091.2:c.539T>C, NM_001348091.1:c.539T>C, NM_001382727.1:c.686T>C, NM_001382730.1:c.686T>C, NM_001382733.1:c.686T>C, NM_001382734.1:c.617T>C, NM_144503.1:c.686T>C, NM_144504.1:c.686T>C, NM_144502.1:c.566T>C, NM_144501.1:c.686T>C, NP_058642.1:p.Met229Thr, NP_001335020.1:p.Met180Thr, NP_001369656.1:p.Met229Thr, NP_001369659.1:p.Met229Thr, NP_001369662.1:p.Met229Thr, NP_001369663.1:p.Met206Thr

Select item 140710443218.

rs1407104432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161000260 (GRCh38)
1:160970050 (GRCh37)
Canonical SPDI:: NC_000001.11:161000259:G:A
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161000260G>A, NC_000001.10:g.160970050G>A, NM_016946.6:c.477C>T, NM_016946.5:c.477C>T, NM_016946.4:c.477C>T, NM_001348091.2:c.330C>T, NM_001348091.1:c.330C>T, NM_001382727.1:c.477C>T, NM_001382730.1:c.477C>T, NM_001382733.1:c.477C>T, NM_001382734.1:c.408C>T, NM_144503.1:c.477C>T, NM_144504.1:c.477C>T, NM_144502.1:c.357C>T, NM_144501.1:c.477C>T

Select item 140706758819.

rs1407067588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161000696 (GRCh38)
1:160970486 (GRCh37)
Canonical SPDI:: NC_000001.11:161000695:G:A
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161000696G>A, NC_000001.10:g.160970486G>A, NM_016946.6:c.323C>T, NM_016946.5:c.323C>T, NM_016946.4:c.323C>T, NM_001382727.1:c.323C>T, NM_001382730.1:c.323C>T, NM_001382733.1:c.323C>T, NM_001382734.1:c.254C>T, NM_144503.1:c.323C>T, NM_144504.1:c.323C>T, NM_144502.1:c.203C>T, NM_144501.1:c.323C>T, NP_058642.1:p.Thr108Ile, NP_001369656.1:p.Thr108Ile, NP_001369659.1:p.Thr108Ile, NP_001369662.1:p.Thr108Ile, NP_001369663.1:p.Thr85Ile

Select item 140369423020.

rs1403694230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160999693 (GRCh38)
1:160969483 (GRCh37)
Canonical SPDI:: NC_000001.11:160999692:A:G
Gene:: F11R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160999693A>G, NC_000001.10:g.160969483A>G, NM_016946.6:c.749T>C, NM_016946.5:c.749T>C, NM_016946.4:c.749T>C, NM_001348091.2:c.602T>C, NM_001348091.1:c.602T>C, NM_001382727.1:c.749T>C, NM_001382730.1:c.749T>C, NM_001382733.1:c.719T>C, NM_001382734.1:c.680T>C, NM_144503.1:c.749T>C, NM_144504.1:c.749T>C, NM_144502.1:c.629T>C, NM_144501.1:c.749T>C, NP_058642.1:p.Leu250Pro, NP_001335020.1:p.Leu201Pro, NP_001369656.1:p.Leu250Pro, NP_001369659.1:p.Leu250Pro, NP_001369662.1:p.Leu240Pro, NP_001369663.1:p.Leu227Pro

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 273

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity