SNP Links for Protein (Select 125625324) - SNP

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Links from Protein

Items: 1 to 20 of 310

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Select item 14891708701.

rs1489170870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62803563 (GRCh38)
11:62571035 (GRCh37)
Canonical SPDI:: NC_000011.10:62803562:A:G
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62803563A>G, NC_000011.9:g.62571035A>G, NM_006362.5:c.225T>C, NM_006362.4:c.225T>C, NM_001081491.2:c.225T>C, NM_001081491.1:c.225T>C, XM_047426245.1:c.273T>C, XM_047426246.1:c.273T>C, XM_047426247.1:c.225T>C

Select item 14877218742.

rs1487721874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62801773 (GRCh38)
11:62569245 (GRCh37)
Canonical SPDI:: NC_000011.10:62801772:T:C
Gene:: NXF1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62801773T>C, NC_000011.9:g.62569245T>C, NM_006362.5:c.605A>G, NM_006362.4:c.605A>G, NM_001081491.2:c.605A>G, NM_001081491.1:c.605A>G, XM_047426245.1:c.653A>G, XM_047426246.1:c.653A>G, XM_047426247.1:c.605A>G, NP_006353.2:p.Asn202Ser, NP_001074960.1:p.Asn202Ser, XP_047282201.1:p.Asn218Ser, XP_047282202.1:p.Asn218Ser, XP_047282203.1:p.Asn202Ser

Select item 14873397573.

rs1487339757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62801348 (GRCh38)
11:62568820 (GRCh37)
Canonical SPDI:: NC_000011.10:62801347:A:G
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801348A>G, NC_000011.9:g.62568820A>G, NM_006362.5:c.779T>C, NM_006362.4:c.779T>C, NM_001081491.2:c.779T>C, NM_001081491.1:c.779T>C, XM_047426245.1:c.827T>C, XM_047426246.1:c.827T>C, XM_047426247.1:c.779T>C, NP_006353.2:p.Ile260Thr, NP_001074960.1:p.Ile260Thr, XP_047282201.1:p.Ile276Thr, XP_047282202.1:p.Ile276Thr, XP_047282203.1:p.Ile260Thr

Select item 14871668024.

rs1487166802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62800386 (GRCh38)
11:62567858 (GRCh37)
Canonical SPDI:: NC_000011.10:62800385:G:A
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62800386G>A, NC_000011.9:g.62567858G>A, NM_006362.5:c.1007C>T, NM_006362.4:c.1007C>T, NM_001081491.2:c.1007C>T, NM_001081491.1:c.1007C>T, XM_047426245.1:c.1055C>T, XM_047426246.1:c.1055C>T, XM_047426247.1:c.1007C>T, NP_006353.2:p.Thr336Ile, NP_001074960.1:p.Thr336Ile, XP_047282201.1:p.Thr352Ile, XP_047282202.1:p.Thr352Ile, XP_047282203.1:p.Thr336Ile

Select item 14787327395.

rs1478732739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62800417 (GRCh38)
11:62567889 (GRCh37)
Canonical SPDI:: NC_000011.10:62800416:A:G
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62800417A>G, NC_000011.9:g.62567889A>G, NM_006362.5:c.976T>C, NM_006362.4:c.976T>C, NM_001081491.2:c.976T>C, NM_001081491.1:c.976T>C, XM_047426245.1:c.1024T>C, XM_047426246.1:c.1024T>C, XM_047426247.1:c.976T>C, NP_006353.2:p.Ser326Pro, NP_001074960.1:p.Ser326Pro, XP_047282201.1:p.Ser342Pro, XP_047282202.1:p.Ser342Pro, XP_047282203.1:p.Ser326Pro

Select item 14782281656.

rs1478228165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62800391 (GRCh38)
11:62567863 (GRCh37)
Canonical SPDI:: NC_000011.10:62800390:C:T
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62800391C>T, NC_000011.9:g.62567863C>T, NM_006362.5:c.1002G>A, NM_006362.4:c.1002G>A, NM_001081491.2:c.1002G>A, NM_001081491.1:c.1002G>A, XM_047426245.1:c.1050G>A, XM_047426246.1:c.1050G>A, XM_047426247.1:c.1002G>A

Select item 14777910607.

rs1477791060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62801994 (GRCh38)
11:62569466 (GRCh37)
Canonical SPDI:: NC_000011.10:62801993:G:A
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801994G>A, NC_000011.9:g.62569466G>A, NM_006362.5:c.506C>T, NM_006362.4:c.506C>T, NM_001081491.2:c.506C>T, NM_001081491.1:c.506C>T, XM_047426245.1:c.554C>T, XM_047426246.1:c.554C>T, XM_047426247.1:c.506C>T, NP_006353.2:p.Ala169Val, NP_001074960.1:p.Ala169Val, XP_047282201.1:p.Ala185Val, XP_047282202.1:p.Ala185Val, XP_047282203.1:p.Ala169Val

Select item 14777372518.

rs1477737251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62801182 (GRCh38)
11:62568654 (GRCh37)
Canonical SPDI:: NC_000011.10:62801181:C:T
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801182C>T, NC_000011.9:g.62568654C>T, NM_006362.5:c.818G>A, NM_006362.4:c.818G>A, NM_001081491.2:c.818G>A, NM_001081491.1:c.818G>A, XM_047426245.1:c.866G>A, XM_047426246.1:c.866G>A, XM_047426247.1:c.818G>A, NP_006353.2:p.Ser273Asn, NP_001074960.1:p.Ser273Asn, XP_047282201.1:p.Ser289Asn, XP_047282202.1:p.Ser289Asn, XP_047282203.1:p.Ser273Asn

Select item 14751640749.

rs1475164074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62801566 (GRCh38)
11:62569038 (GRCh37)
Canonical SPDI:: NC_000011.10:62801565:G:A
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62801566G>A, NC_000011.9:g.62569038G>A, NM_006362.5:c.705C>T, NM_006362.4:c.705C>T, NM_001081491.2:c.705C>T, NM_001081491.1:c.705C>T, XM_047426245.1:c.753C>T, XM_047426246.1:c.753C>T, XM_047426247.1:c.705C>T

Select item 147386906010.

rs1473869060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62803804 (GRCh38)
11:62571276 (GRCh37)
Canonical SPDI:: NC_000011.10:62803803:G:A
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62803804G>A, NC_000011.9:g.62571276G>A, NM_006362.5:c.203C>T, NM_006362.4:c.203C>T, NM_001081491.2:c.203C>T, NM_001081491.1:c.203C>T, XM_047426245.1:c.251C>T, XM_047426246.1:c.251C>T, XM_047426247.1:c.203C>T, NP_006353.2:p.Pro68Leu, NP_001074960.1:p.Pro68Leu, XP_047282201.1:p.Pro84Leu, XP_047282202.1:p.Pro84Leu, XP_047282203.1:p.Pro68Leu

Select item 147168699311.

rs1471686993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62801784 (GRCh38)
11:62569256 (GRCh37)
Canonical SPDI:: NC_000011.10:62801783:G:A
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62801784G>A, NC_000011.9:g.62569256G>A, NM_006362.5:c.594C>T, NM_006362.4:c.594C>T, NM_001081491.2:c.594C>T, NM_001081491.1:c.594C>T, XM_047426245.1:c.642C>T, XM_047426246.1:c.642C>T, XM_047426247.1:c.594C>T

Select item 146881021412.

rs1468810214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62801173 (GRCh38)
11:62568645 (GRCh37)
Canonical SPDI:: NC_000011.10:62801172:C:T
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801173C>T, NC_000011.9:g.62568645C>T, NM_006362.5:c.827G>A, NM_006362.4:c.827G>A, NM_001081491.2:c.827G>A, NM_001081491.1:c.827G>A, XM_047426245.1:c.875G>A, XM_047426246.1:c.875G>A, XM_047426247.1:c.827G>A, NP_006353.2:p.Arg276Lys, NP_001074960.1:p.Arg276Lys, XP_047282201.1:p.Arg292Lys, XP_047282202.1:p.Arg292Lys, XP_047282203.1:p.Arg276Lys

Select item 146591692413.

rs1465916924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62803493 (GRCh38)
11:62570965 (GRCh37)
Canonical SPDI:: NC_000011.10:62803492:C:G
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62803493C>G, NC_000011.9:g.62570965C>G, NM_006362.5:c.295G>C, NM_006362.4:c.295G>C, NM_001081491.2:c.295G>C, NM_001081491.1:c.295G>C, XM_047426245.1:c.343G>C, XM_047426246.1:c.343G>C, XM_047426247.1:c.295G>C, NP_006353.2:p.Asp99His, NP_001074960.1:p.Asp99His, XP_047282201.1:p.Asp115His, XP_047282202.1:p.Asp115His, XP_047282203.1:p.Asp99His

Select item 145925509214.

rs1459255092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62803918 (GRCh38)
11:62571390 (GRCh37)
Canonical SPDI:: NC_000011.10:62803917:C:A,NC_000011.10:62803917:C:T
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62803918C>A, NC_000011.10:g.62803918C>T, NC_000011.9:g.62571390C>A, NC_000011.9:g.62571390C>T, NM_006362.5:c.89G>T, NM_006362.5:c.89G>A, NM_006362.4:c.89G>T, NM_006362.4:c.89G>A, NM_001081491.2:c.89G>T, NM_001081491.2:c.89G>A, NM_001081491.1:c.89G>T, NM_001081491.1:c.89G>A, XM_047426245.1:c.137G>T, XM_047426245.1:c.137G>A, XM_047426246.1:c.137G>T, XM_047426246.1:c.137G>A, XM_047426247.1:c.89G>T, XM_047426247.1:c.89G>A, NP_006353.2:p.Arg30Leu, NP_006353.2:p.Arg30Gln, NP_001074960.1:p.Arg30Leu, NP_001074960.1:p.Arg30Gln, XP_047282201.1:p.Arg46Leu, XP_047282201.1:p.Arg46Gln, XP_047282202.1:p.Arg46Leu, XP_047282202.1:p.Arg46Gln, XP_047282203.1:p.Arg30Leu, XP_047282203.1:p.Arg30Gln

Select item 145884241815.

rs1458842418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62801140 (GRCh38)
11:62568612 (GRCh37)
Canonical SPDI:: NC_000011.10:62801139:A:G
Gene:: NXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801140A>G, NC_000011.9:g.62568612A>G, NM_006362.5:c.860T>C, NM_006362.4:c.860T>C, NM_001081491.2:c.860T>C, NM_001081491.1:c.860T>C, XM_047426245.1:c.908T>C, XM_047426246.1:c.908T>C, XM_047426247.1:c.860T>C, NP_006353.2:p.Val287Ala, NP_001074960.1:p.Val287Ala, XP_047282201.1:p.Val303Ala, XP_047282202.1:p.Val303Ala, XP_047282203.1:p.Val287Ala

Select item 145471135716.

rs1454711357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62801372 (GRCh38)
11:62568844 (GRCh37)
Canonical SPDI:: NC_000011.10:62801371:C:T
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801372C>T, NC_000011.9:g.62568844C>T, NM_006362.5:c.755G>A, NM_006362.4:c.755G>A, NM_001081491.2:c.755G>A, NM_001081491.1:c.755G>A, XM_047426245.1:c.803G>A, XM_047426246.1:c.803G>A, XM_047426247.1:c.755G>A, NP_006353.2:p.Cys252Tyr, NP_001074960.1:p.Cys252Tyr, XP_047282201.1:p.Cys268Tyr, XP_047282202.1:p.Cys268Tyr, XP_047282203.1:p.Cys252Tyr

Select item 144656094417.

rs1446560944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62800461 (GRCh38)
11:62567933 (GRCh37)
Canonical SPDI:: NC_000011.10:62800460:T:A
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.62800461T>A, NC_000011.9:g.62567933T>A, NM_006362.5:c.932A>T, NM_006362.4:c.932A>T, NM_001081491.2:c.932A>T, NM_001081491.1:c.932A>T, XM_047426245.1:c.980A>T, XM_047426246.1:c.980A>T, XM_047426247.1:c.932A>T, NP_006353.2:p.Lys311Met, NP_001074960.1:p.Lys311Met, XP_047282201.1:p.Lys327Met, XP_047282202.1:p.Lys327Met, XP_047282203.1:p.Lys311Met

Select item 144585035718.

rs1445850357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62801594 (GRCh38)
11:62569066 (GRCh37)
Canonical SPDI:: NC_000011.10:62801593:G:C
Gene:: NXF1 (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_000011.10:g.62801594G>C, NC_000011.9:g.62569066G>C, NM_006362.5:c.677C>G, NM_006362.4:c.677C>G, NM_001081491.2:c.677C>G, NM_001081491.1:c.677C>G, XM_047426245.1:c.725C>G, XM_047426246.1:c.725C>G, XM_047426247.1:c.677C>G, NP_006353.2:p.Ala226Gly, NP_001074960.1:p.Ala226Gly, XP_047282201.1:p.Ala242Gly, XP_047282202.1:p.Ala242Gly, XP_047282203.1:p.Ala226Gly

Select item 144498807219.

rs1444988072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62801104 (GRCh38)
11:62568576 (GRCh37)
Canonical SPDI:: NC_000011.10:62801103:G:C
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62801104G>C, NC_000011.9:g.62568576G>C, NM_006362.5:c.896C>G, NM_006362.4:c.896C>G, NM_001081491.2:c.896C>G, NM_001081491.1:c.896C>G, XM_047426245.1:c.944C>G, XM_047426246.1:c.944C>G, XM_047426247.1:c.896C>G, NP_006353.2:p.Ser299Cys, NP_001074960.1:p.Ser299Cys, XP_047282201.1:p.Ser315Cys, XP_047282202.1:p.Ser315Cys, XP_047282203.1:p.Ser299Cys

Select item 144148637820.

rs1441486378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62801800 (GRCh38)
11:62569272 (GRCh37)
Canonical SPDI:: NC_000011.10:62801799:G:C
Gene:: NXF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62801800G>C, NC_000011.9:g.62569272G>C, NM_006362.5:c.578C>G, NM_006362.4:c.578C>G, NM_001081491.2:c.578C>G, NM_001081491.1:c.578C>G, XM_047426245.1:c.626C>G, XM_047426246.1:c.626C>G, XM_047426247.1:c.578C>G, NP_006353.2:p.Ser193Cys, NP_001074960.1:p.Ser193Cys, XP_047282201.1:p.Ser209Cys, XP_047282202.1:p.Ser209Cys, XP_047282203.1:p.Ser193Cys

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