SNP Links for Protein (Select 767951807) - SNP

Links from Protein

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Select item 14893495671.

rs1489349567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78689313 (GRCh38)
8:79601548 (GRCh37)
Canonical SPDI:: NC_000008.11:78689312:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.78689313T>C, NC_000008.10:g.79601548T>C, XM_011517539.4:c.444T>C, XM_011517539.3:c.444T>C, XM_011517539.2:c.444T>C, XM_011517539.1:c.444T>C, NM_016010.3:c.444T>C, NM_016010.2:c.444T>C, NR_156423.2:n.504T>C, NR_156423.1:n.546T>C, NM_001362969.2:c.444T>C, NM_001362969.1:c.444T>C

Select item 14875162012.

rs1487516201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78686493 (GRCh38)
8:79598728 (GRCh37)
Canonical SPDI:: NC_000008.11:78686492:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.78686493T>C, NC_000008.10:g.79598728T>C, XM_011517539.4:c.237T>C, XM_011517539.3:c.237T>C, XM_011517539.2:c.237T>C, XM_011517539.1:c.237T>C, NM_016010.3:c.237T>C, NM_016010.2:c.237T>C, NR_156423.2:n.297T>C, NR_156423.1:n.339T>C, NM_001362969.2:c.237T>C, NM_001362969.1:c.237T>C

Select item 14858698683.

rs1485869868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:78689296 (GRCh38)
8:79601531 (GRCh37)
Canonical SPDI:: NC_000008.11:78689295:G:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.78689296G>C, NC_000008.10:g.79601531G>C, XM_011517539.4:c.427G>C, XM_011517539.3:c.427G>C, XM_011517539.2:c.427G>C, XM_011517539.1:c.427G>C, NM_016010.3:c.427G>C, NM_016010.2:c.427G>C, NR_156423.2:n.487G>C, NR_156423.1:n.529G>C, NM_001362969.2:c.427G>C, NM_001362969.1:c.427G>C, XP_011515841.1:p.Glu143Gln, NP_057094.2:p.Glu143Gln, NP_001349898.1:p.Glu143Gln

Select item 14851488044.

rs1485148804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78698508 (GRCh38)
8:79610743 (GRCh37)
Canonical SPDI:: NC_000008.11:78698507:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.78698508T>C, NC_000008.10:g.79610743T>C, XM_011517539.4:c.699T>C, XM_011517539.3:c.699T>C, XM_011517539.2:c.699T>C, XM_011517539.1:c.699T>C, NM_016010.3:c.699T>C, NM_016010.2:c.699T>C, NR_156423.2:n.759T>C, NR_156423.1:n.801T>C, NM_001362969.2:c.699T>C, NM_001362969.1:c.699T>C

Select item 14773632435.

rs1477363243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:78675813 (GRCh38)
8:79588048 (GRCh37)
Canonical SPDI:: NC_000008.11:78675812:G:A
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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)
A=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.78675813G>A, NC_000008.10:g.79588048G>A, XM_011517539.4:c.43G>A, XM_011517539.3:c.43G>A, XM_011517539.2:c.43G>A, XM_011517539.1:c.43G>A, XM_011517523.4:c.*277C>T, NM_016010.3:c.43G>A, NM_016010.2:c.43G>A, NR_156423.2:n.103G>A, NR_156423.1:n.145G>A, NM_001362969.2:c.43G>A, NM_001362969.1:c.43G>A, XP_011515841.1:p.Glu15Lys, NP_057094.2:p.Glu15Lys, NP_001349898.1:p.Glu15Lys

Select item 14770993196.

rs1477099319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78675820 (GRCh38)
8:79588055 (GRCh37)
Canonical SPDI:: NC_000008.11:78675819:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.78675820T>C, NC_000008.10:g.79588055T>C, XM_011517539.4:c.50T>C, XM_011517539.3:c.50T>C, XM_011517539.2:c.50T>C, XM_011517539.1:c.50T>C, XM_011517523.4:c.*270A>G, NM_016010.3:c.50T>C, NM_016010.2:c.50T>C, NR_156423.2:n.110T>C, NR_156423.1:n.152T>C, NM_001362969.2:c.50T>C, NM_001362969.1:c.50T>C, XP_011515841.1:p.Leu17Ser, NP_057094.2:p.Leu17Ser, NP_001349898.1:p.Leu17Ser

Select item 14756613447.

rs1475661344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78689292 (GRCh38)
8:79601527 (GRCh37)
Canonical SPDI:: NC_000008.11:78689291:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.78689292T>C, NC_000008.10:g.79601527T>C, XM_011517539.4:c.423T>C, XM_011517539.3:c.423T>C, XM_011517539.2:c.423T>C, XM_011517539.1:c.423T>C, NM_016010.3:c.423T>C, NM_016010.2:c.423T>C, NR_156423.2:n.483T>C, NR_156423.1:n.525T>C, NM_001362969.2:c.423T>C, NM_001362969.1:c.423T>C

Select item 14756163118.

rs1475616311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:78705137 (GRCh38)
8:79617372 (GRCh37)
Canonical SPDI:: NC_000008.11:78705136:G:A
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000008.11:g.78705137G>A, NC_000008.10:g.79617372G>A, XM_011517539.4:c.734G>A, XM_011517539.3:c.734G>A, XM_011517539.2:c.734G>A, XM_011517539.1:c.734G>A, XP_011515841.1:p.Arg245Lys

Select item 14751364979.

rs1475136497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:78689308 (GRCh38)
8:79601543 (GRCh37)
Canonical SPDI:: NC_000008.11:78689307:C:T
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000008.11:g.78689308C>T, NC_000008.10:g.79601543C>T, XM_011517539.4:c.439C>T, XM_011517539.3:c.439C>T, XM_011517539.2:c.439C>T, XM_011517539.1:c.439C>T, NM_016010.3:c.439C>T, NM_016010.2:c.439C>T, NR_156423.2:n.499C>T, NR_156423.1:n.541C>T, NM_001362969.2:c.439C>T, NM_001362969.1:c.439C>T, XP_011515841.1:p.Arg147Cys, NP_057094.2:p.Arg147Cys, NP_001349898.1:p.Arg147Cys

Select item 147405739410.

rs1474057394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:78697454 (GRCh38)
8:79609689 (GRCh37)
Canonical SPDI:: NC_000008.11:78697453:A:G,NC_000008.11:78697453:A:T
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.78697454A>G, NC_000008.11:g.78697454A>T, NC_000008.10:g.79609689A>G, NC_000008.10:g.79609689A>T, XM_011517539.4:c.552A>G, XM_011517539.4:c.552A>T, XM_011517539.3:c.552A>G, XM_011517539.3:c.552A>T, XM_011517539.2:c.552A>G, XM_011517539.2:c.552A>T, XM_011517539.1:c.552A>G, XM_011517539.1:c.552A>T, NM_016010.3:c.552A>G, NM_016010.3:c.552A>T, NM_016010.2:c.552A>G, NM_016010.2:c.552A>T, NR_156423.2:n.612A>G, NR_156423.2:n.612A>T, NR_156423.1:n.654A>G, NR_156423.1:n.654A>T, NM_001362969.2:c.552A>G, NM_001362969.2:c.552A>T, NM_001362969.1:c.552A>G, NM_001362969.1:c.552A>T

Select item 147213807411.

rs1472138074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:78686527 (GRCh38)
8:79598762 (GRCh37)
Canonical SPDI:: NC_000008.11:78686526:A:G
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.78686527A>G, NC_000008.10:g.79598762A>G, XM_011517539.4:c.271A>G, XM_011517539.3:c.271A>G, XM_011517539.2:c.271A>G, XM_011517539.1:c.271A>G, NM_016010.3:c.271A>G, NM_016010.2:c.271A>G, NR_156423.2:n.331A>G, NR_156423.1:n.373A>G, NM_001362969.2:c.271A>G, NM_001362969.1:c.271A>G, XP_011515841.1:p.Ile91Val, NP_057094.2:p.Ile91Val, NP_001349898.1:p.Ile91Val

Select item 147114902912.

rs1471149029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:78666163 (GRCh38)
8:79578398 (GRCh37)
Canonical SPDI:: NC_000008.11:78666162:A:T
Gene:: ZC2HC1A (Varview), LOC105375911 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000008.11:g.78666163A>T, NC_000008.10:g.79578398A>T, XM_011517539.4:c.15A>T, XM_011517539.3:c.15A>T, XM_011517539.2:c.15A>T, XM_011517539.1:c.15A>T, NM_016010.3:c.15A>T, NM_016010.2:c.15A>T, NR_156423.2:n.75A>T, NR_156423.1:n.117A>T, NM_001362969.2:c.15A>T, NM_001362969.1:c.15A>T, XP_011515841.1:p.Glu5Asp, NP_057094.2:p.Glu5Asp, NP_001349898.1:p.Glu5Asp

Select item 145810306013.

rs1458103060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:78698414 (GRCh38)
8:79610649 (GRCh37)
Canonical SPDI:: NC_000008.11:78698413:G:A,NC_000008.11:78698413:G:T
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.78698414G>A, NC_000008.11:g.78698414G>T, NC_000008.10:g.79610649G>A, NC_000008.10:g.79610649G>T, XM_011517539.4:c.605G>A, XM_011517539.4:c.605G>T, XM_011517539.3:c.605G>A, XM_011517539.3:c.605G>T, XM_011517539.2:c.605G>A, XM_011517539.2:c.605G>T, XM_011517539.1:c.605G>A, XM_011517539.1:c.605G>T, NM_016010.3:c.605G>A, NM_016010.3:c.605G>T, NM_016010.2:c.605G>A, NM_016010.2:c.605G>T, NR_156423.2:n.665G>A, NR_156423.2:n.665G>T, NR_156423.1:n.707G>A, NR_156423.1:n.707G>T, NM_001362969.2:c.605G>A, NM_001362969.2:c.605G>T, NM_001362969.1:c.605G>A, NM_001362969.1:c.605G>T, XP_011515841.1:p.Gly202Asp, XP_011515841.1:p.Gly202Val, NP_057094.2:p.Gly202Asp, NP_057094.2:p.Gly202Val, NP_001349898.1:p.Gly202Asp, NP_001349898.1:p.Gly202Val

Select item 144705068214.

rs1447050682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78697504 (GRCh38)
8:79609739 (GRCh37)
Canonical SPDI:: NC_000008.11:78697503:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.78697504T>C, NC_000008.10:g.79609739T>C, XM_011517539.4:c.602T>C, XM_011517539.3:c.602T>C, XM_011517539.2:c.602T>C, XM_011517539.1:c.602T>C, NM_016010.3:c.602T>C, NM_016010.2:c.602T>C, NR_156423.2:n.662T>C, NR_156423.1:n.704T>C, NM_001362969.2:c.602T>C, NM_001362969.1:c.602T>C, XP_011515841.1:p.Val201Ala, NP_057094.2:p.Val201Ala, NP_001349898.1:p.Val201Ala

Select item 143865094715.

rs1438650947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:78686548 (GRCh38)
8:79598783 (GRCh37)
Canonical SPDI:: NC_000008.11:78686547:G:A
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.78686548G>A, NC_000008.10:g.79598783G>A, XM_011517539.4:c.292G>A, XM_011517539.3:c.292G>A, XM_011517539.2:c.292G>A, XM_011517539.1:c.292G>A, NM_016010.3:c.292G>A, NM_016010.2:c.292G>A, NR_156423.2:n.352G>A, NR_156423.1:n.394G>A, NM_001362969.2:c.292G>A, NM_001362969.1:c.292G>A, XP_011515841.1:p.Asp98Asn, NP_057094.2:p.Asp98Asn, NP_001349898.1:p.Asp98Asn

Select item 143716901416.

rs1437169014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:78675837 (GRCh38)
8:79588072 (GRCh37)
Canonical SPDI:: NC_000008.11:78675836:G:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.00011/29 (TOPMED)
HGVS:: NC_000008.11:g.78675837G>C, NC_000008.10:g.79588072G>C, XM_011517539.4:c.67G>C, XM_011517539.3:c.67G>C, XM_011517539.2:c.67G>C, XM_011517539.1:c.67G>C, XM_011517523.4:c.*253C>G, NM_016010.3:c.67G>C, NM_016010.2:c.67G>C, NR_156423.2:n.127G>C, NR_156423.1:n.169G>C, NM_001362969.2:c.67G>C, NM_001362969.1:c.67G>C, XP_011515841.1:p.Gly23Arg, NP_057094.2:p.Gly23Arg, NP_001349898.1:p.Gly23Arg

Select item 143415704617.

rs1434157046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:78689256 (GRCh38)
8:79601491 (GRCh37)
Canonical SPDI:: NC_000008.11:78689255:C:A,NC_000008.11:78689255:C:G
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.78689256C>A, NC_000008.11:g.78689256C>G, NC_000008.10:g.79601491C>A, NC_000008.10:g.79601491C>G, XM_011517539.4:c.387C>A, XM_011517539.4:c.387C>G, XM_011517539.3:c.387C>A, XM_011517539.3:c.387C>G, XM_011517539.2:c.387C>A, XM_011517539.2:c.387C>G, XM_011517539.1:c.387C>A, XM_011517539.1:c.387C>G, NM_016010.3:c.387C>A, NM_016010.3:c.387C>G, NM_016010.2:c.387C>A, NM_016010.2:c.387C>G, NR_156423.2:n.447C>A, NR_156423.2:n.447C>G, NR_156423.1:n.489C>A, NR_156423.1:n.489C>G, NM_001362969.2:c.387C>A, NM_001362969.2:c.387C>G, NM_001362969.1:c.387C>A, NM_001362969.1:c.387C>G, XP_011515841.1:p.Phe129Leu, XP_011515841.1:p.Phe129Leu, NP_057094.2:p.Phe129Leu, NP_057094.2:p.Phe129Leu, NP_001349898.1:p.Phe129Leu, NP_001349898.1:p.Phe129Leu

Select item 143334053118.

rs1433340531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:78666152 (GRCh38)
8:79578387 (GRCh37)
Canonical SPDI:: NC_000008.11:78666151:G:C
Gene:: ZC2HC1A (Varview), LOC105375911 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.78666152G>C, NC_000008.10:g.79578387G>C, XM_011517539.4:c.4G>C, XM_011517539.3:c.4G>C, XM_011517539.2:c.4G>C, XM_011517539.1:c.4G>C, NM_016010.3:c.4G>C, NM_016010.2:c.4G>C, NR_156423.2:n.64G>C, NR_156423.1:n.106G>C, NM_001362969.2:c.4G>C, NM_001362969.1:c.4G>C, XP_011515841.1:p.Glu2Gln, NP_057094.2:p.Glu2Gln, NP_001349898.1:p.Glu2Gln

Select item 143323213919.

rs1433232139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:78686566 (GRCh38)
8:79598801 (GRCh37)
Canonical SPDI:: NC_000008.11:78686565:G:A,NC_000008.11:78686565:G:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/2 (ALFA)
HGVS:: NC_000008.11:g.78686566G>A, NC_000008.11:g.78686566G>C, NC_000008.10:g.79598801G>A, NC_000008.10:g.79598801G>C, XM_011517539.4:c.310G>A, XM_011517539.4:c.310G>C, XM_011517539.3:c.310G>A, XM_011517539.3:c.310G>C, XM_011517539.2:c.310G>A, XM_011517539.2:c.310G>C, XM_011517539.1:c.310G>A, XM_011517539.1:c.310G>C, NM_016010.3:c.310G>A, NM_016010.3:c.310G>C, NM_016010.2:c.310G>A, NM_016010.2:c.310G>C, NR_156423.2:n.370G>A, NR_156423.2:n.370G>C, NR_156423.1:n.412G>A, NR_156423.1:n.412G>C, NM_001362969.2:c.310G>A, NM_001362969.2:c.310G>C, NM_001362969.1:c.310G>A, NM_001362969.1:c.310G>C, XP_011515841.1:p.Gly104Ser, XP_011515841.1:p.Gly104Arg, NP_057094.2:p.Gly104Ser, NP_057094.2:p.Gly104Arg, NP_001349898.1:p.Gly104Ser, NP_001349898.1:p.Gly104Arg

Select item 143137038920.

rs1431370389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:78686515 (GRCh38)
8:79598750 (GRCh37)
Canonical SPDI:: NC_000008.11:78686514:T:C
Gene:: IL7 (Varview), ZC2HC1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.78686515T>C, NC_000008.10:g.79598750T>C, XM_011517539.4:c.259T>C, XM_011517539.3:c.259T>C, XM_011517539.2:c.259T>C, XM_011517539.1:c.259T>C, NM_016010.3:c.259T>C, NM_016010.2:c.259T>C, NR_156423.2:n.319T>C, NR_156423.1:n.361T>C, NM_001362969.2:c.259T>C, NM_001362969.1:c.259T>C, XP_011515841.1:p.Phe87Leu, NP_057094.2:p.Phe87Leu, NP_001349898.1:p.Phe87Leu

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