SNP Links for Protein (Select 56550035) - SNP

Links from Protein

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Select item 14899524741.

rs1489952474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:86990675 (GRCh38)
3:87039825 (GRCh37)
Canonical SPDI:: NC_000003.12:86990674:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86990675C>T, NC_000003.11:g.87039825C>T, XM_006713138.5:c.69G>A, XM_006713138.4:c.69G>A, XM_006713138.3:c.69G>A, XM_006713138.2:c.69G>A, XM_006713138.1:c.69G>A, NM_016206.4:c.69G>A, NM_016206.3:c.69G>A, NM_016206.2:c.69G>A, NM_001320494.2:c.69G>A, NM_001320494.1:c.69G>A, NM_001320493.2:c.69G>A, NM_001320493.1:c.69G>A, XP_006713201.1:p.Met23Ile, NP_057290.2:p.Met23Ile, NP_001307423.1:p.Met23Ile, NP_001307422.1:p.Met23Ile

Select item 14878742082.

rs1487874208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:86990625 (GRCh38)
3:87039775 (GRCh37)
Canonical SPDI:: NC_000003.12:86990624:C:G,NC_000003.12:86990624:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.86990625C>G, NC_000003.12:g.86990625C>T, NC_000003.11:g.87039775C>G, NC_000003.11:g.87039775C>T, XM_006713138.5:c.119G>C, XM_006713138.5:c.119G>A, XM_006713138.4:c.119G>C, XM_006713138.4:c.119G>A, XM_006713138.3:c.119G>C, XM_006713138.3:c.119G>A, XM_006713138.2:c.119G>C, XM_006713138.2:c.119G>A, XM_006713138.1:c.119G>C, XM_006713138.1:c.119G>A, NM_016206.4:c.119G>C, NM_016206.4:c.119G>A, NM_016206.3:c.119G>C, NM_016206.3:c.119G>A, NM_016206.2:c.119G>C, NM_016206.2:c.119G>A, NM_001320494.2:c.119G>C, NM_001320494.2:c.119G>A, NM_001320494.1:c.119G>C, NM_001320494.1:c.119G>A, NM_001320493.2:c.119G>C, NM_001320493.2:c.119G>A, NM_001320493.1:c.119G>C, NM_001320493.1:c.119G>A, XP_006713201.1:p.Gly40Ala, XP_006713201.1:p.Gly40Asp, NP_057290.2:p.Gly40Ala, NP_057290.2:p.Gly40Asp, NP_001307423.1:p.Gly40Ala, NP_001307423.1:p.Gly40Asp, NP_001307422.1:p.Gly40Ala, NP_001307422.1:p.Gly40Asp

Select item 14840972663.

rs1484097266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:86947061 (GRCh38)
3:86996211 (GRCh37)
Canonical SPDI:: NC_000003.12:86947060:T:A
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000003.12:g.86947061T>A, NC_000003.11:g.86996211T>A, XM_006713138.5:c.941A>T, XM_006713138.4:c.941A>T, XM_006713138.3:c.941A>T, XM_006713138.2:c.941A>T, XM_006713138.1:c.941A>T, NM_016206.4:c.944A>T, NM_016206.3:c.944A>T, NM_016206.2:c.944A>T, NM_001320494.2:c.785A>T, NM_001320494.1:c.785A>T, XP_006713201.1:p.Gln314Leu, NP_057290.2:p.Gln315Leu, NP_001307423.1:p.Gln262Leu

Select item 14831487594.

rs1483148759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:86978736 (GRCh38)
3:87027886 (GRCh37)
Canonical SPDI:: NC_000003.12:86978735:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.86978736C>T, NC_000003.11:g.87027886C>T, XM_006713138.5:c.190G>A, XM_006713138.4:c.190G>A, XM_006713138.3:c.190G>A, XM_006713138.2:c.190G>A, XM_006713138.1:c.190G>A, NM_016206.4:c.193G>A, NM_016206.3:c.193G>A, NM_016206.2:c.193G>A, NM_001320493.2:c.193G>A, NM_001320493.1:c.193G>A, XP_006713201.1:p.Glu64Lys, NP_057290.2:p.Glu65Lys, NP_001307422.1:p.Glu65Lys

Select item 14772686525.

rs1477268652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:86968689 (GRCh38)
3:87017839 (GRCh37)
Canonical SPDI:: NC_000003.12:86968688:T:C
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.86968689T>C, NC_000003.11:g.87017839T>C, XM_006713138.5:c.835A>G, XM_006713138.4:c.835A>G, XM_006713138.3:c.835A>G, XM_006713138.2:c.835A>G, XM_006713138.1:c.835A>G, NM_016206.4:c.838A>G, NM_016206.3:c.838A>G, NM_016206.2:c.838A>G, NM_001320494.2:c.679A>G, NM_001320494.1:c.679A>G, NM_001320493.2:c.838A>G, NM_001320493.1:c.838A>G, XP_006713201.1:p.Thr279Ala, NP_057290.2:p.Thr280Ala, NP_001307423.1:p.Thr227Ala, NP_001307422.1:p.Thr280Ala

Select item 14717408826.

rs1471740882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:86968779 (GRCh38)
3:87017929 (GRCh37)
Canonical SPDI:: NC_000003.12:86968778:G:A
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968779G>A, NC_000003.11:g.87017929G>A, XM_006713138.5:c.745C>T, XM_006713138.4:c.745C>T, XM_006713138.3:c.745C>T, XM_006713138.2:c.745C>T, XM_006713138.1:c.745C>T, NM_016206.4:c.748C>T, NM_016206.3:c.748C>T, NM_016206.2:c.748C>T, NM_001320494.2:c.589C>T, NM_001320494.1:c.589C>T, NM_001320493.2:c.748C>T, NM_001320493.1:c.748C>T, XP_006713201.1:p.Pro249Ser, NP_057290.2:p.Pro250Ser, NP_001307423.1:p.Pro197Ser, NP_001307422.1:p.Pro250Ser

Select item 14703380797.

rs1470338079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:86968664 (GRCh38)
3:87017814 (GRCh37)
Canonical SPDI:: NC_000003.12:86968663:G:A
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968664G>A, NC_000003.11:g.87017814G>A, XM_006713138.5:c.860C>T, XM_006713138.4:c.860C>T, XM_006713138.3:c.860C>T, XM_006713138.2:c.860C>T, XM_006713138.1:c.860C>T, NM_016206.4:c.863C>T, NM_016206.3:c.863C>T, NM_016206.2:c.863C>T, NM_001320494.2:c.704C>T, NM_001320494.1:c.704C>T, NM_001320493.2:c.863C>T, NM_001320493.1:c.863C>T, XP_006713201.1:p.Thr287Ile, NP_057290.2:p.Thr288Ile, NP_001307423.1:p.Thr235Ile, NP_001307422.1:p.Thr288Ile

Select item 14695263118.

rs1469526311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:86978707 (GRCh38)
3:87027857 (GRCh37)
Canonical SPDI:: NC_000003.12:86978706:C:A,NC_000003.12:86978706:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.86978707C>A, NC_000003.12:g.86978707C>T, NC_000003.11:g.87027857C>A, NC_000003.11:g.87027857C>T, XM_006713138.5:c.219G>T, XM_006713138.5:c.219G>A, XM_006713138.4:c.219G>T, XM_006713138.4:c.219G>A, XM_006713138.3:c.219G>T, XM_006713138.3:c.219G>A, XM_006713138.2:c.219G>T, XM_006713138.2:c.219G>A, XM_006713138.1:c.219G>T, XM_006713138.1:c.219G>A, NM_016206.4:c.222G>T, NM_016206.4:c.222G>A, NM_016206.3:c.222G>T, NM_016206.3:c.222G>A, NM_016206.2:c.222G>T, NM_016206.2:c.222G>A, NM_001320493.2:c.222G>T, NM_001320493.2:c.222G>A, NM_001320493.1:c.222G>T, NM_001320493.1:c.222G>A, XP_006713201.1:p.Glu73Asp, NP_057290.2:p.Glu74Asp, NP_001307422.1:p.Glu74Asp

Select item 14662410329.

rs1466241032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:86968883 (GRCh38)
3:87018033 (GRCh37)
Canonical SPDI:: NC_000003.12:86968882:A:G
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968883A>G, NC_000003.11:g.87018033A>G, XM_006713138.5:c.641T>C, XM_006713138.4:c.641T>C, XM_006713138.3:c.641T>C, XM_006713138.2:c.641T>C, XM_006713138.1:c.641T>C, NM_016206.4:c.644T>C, NM_016206.3:c.644T>C, NM_016206.2:c.644T>C, NM_001320494.2:c.485T>C, NM_001320494.1:c.485T>C, NM_001320493.2:c.644T>C, NM_001320493.1:c.644T>C, XP_006713201.1:p.Val214Ala, NP_057290.2:p.Val215Ala, NP_001307423.1:p.Val162Ala, NP_001307422.1:p.Val215Ala

Select item 146229824510.

rs1462298245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:86947026 (GRCh38)
3:86996176 (GRCh37)
Canonical SPDI:: NC_000003.12:86947025:A:T
Gene:: VGLL3 (Varview)
Functional Consequence:: terminator_codon_variant,genic_downstream_transcript_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86947026A>T, NC_000003.11:g.86996176A>T, XM_006713138.5:c.976T>A, XM_006713138.4:c.976T>A, XM_006713138.3:c.976T>A, XM_006713138.2:c.976T>A, XM_006713138.1:c.976T>A, NM_016206.4:c.979T>A, NM_016206.3:c.979T>A, NM_016206.2:c.979T>A, NM_001320494.2:c.820T>A, NM_001320494.1:c.820T>A, XP_006713201.1:p.Ter326Arg, NP_057290.2:p.Ter327Arg, NP_001307423.1:p.Ter274Arg

Select item 145794200211.

rs1457942002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:86968997 (GRCh38)
3:87018147 (GRCh37)
Canonical SPDI:: NC_000003.12:86968996:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968997C>T, NC_000003.11:g.87018147C>T, XM_006713138.5:c.527G>A, XM_006713138.4:c.527G>A, XM_006713138.3:c.527G>A, XM_006713138.2:c.527G>A, XM_006713138.1:c.527G>A, NM_016206.4:c.530G>A, NM_016206.3:c.530G>A, NM_016206.2:c.530G>A, NM_001320494.2:c.371G>A, NM_001320494.1:c.371G>A, NM_001320493.2:c.530G>A, NM_001320493.1:c.530G>A, XP_006713201.1:p.Gly176Asp, NP_057290.2:p.Gly177Asp, NP_001307423.1:p.Gly124Asp, NP_001307422.1:p.Gly177Asp

Select item 145519213712.

rs1455192137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:86968824 (GRCh38)
3:87017974 (GRCh37)
Canonical SPDI:: NC_000003.12:86968823:G:T
Gene:: VGLL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.86968824G>T, NC_000003.11:g.87017974G>T, XM_006713138.5:c.700C>A, XM_006713138.4:c.700C>A, XM_006713138.3:c.700C>A, XM_006713138.2:c.700C>A, XM_006713138.1:c.700C>A, NM_016206.4:c.703C>A, NM_016206.3:c.703C>A, NM_016206.2:c.703C>A, NM_001320494.2:c.544C>A, NM_001320494.1:c.544C>A, NM_001320493.2:c.703C>A, NM_001320493.1:c.703C>A, XP_006713201.1:p.His234Asn, NP_057290.2:p.His235Asn, NP_001307423.1:p.His182Asn, NP_001307422.1:p.His235Asn

Select item 145454277213.

rs1454542772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:86990687 (GRCh38)
3:87039837 (GRCh37)
Canonical SPDI:: NC_000003.12:86990686:C:A,NC_000003.12:86990686:C:G
Gene:: VGLL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.86990687C>A, NC_000003.12:g.86990687C>G, NC_000003.11:g.87039837C>A, NC_000003.11:g.87039837C>G, XM_006713138.5:c.57G>T, XM_006713138.5:c.57G>C, XM_006713138.4:c.57G>T, XM_006713138.4:c.57G>C, XM_006713138.3:c.57G>T, XM_006713138.3:c.57G>C, XM_006713138.2:c.57G>T, XM_006713138.2:c.57G>C, XM_006713138.1:c.57G>T, XM_006713138.1:c.57G>C, NM_016206.4:c.57G>T, NM_016206.4:c.57G>C, NM_016206.3:c.57G>T, NM_016206.3:c.57G>C, NM_016206.2:c.57G>T, NM_016206.2:c.57G>C, NM_001320494.2:c.57G>T, NM_001320494.2:c.57G>C, NM_001320494.1:c.57G>T, NM_001320494.1:c.57G>C, NM_001320493.2:c.57G>T, NM_001320493.2:c.57G>C, NM_001320493.1:c.57G>T, NM_001320493.1:c.57G>C

Select item 144515757314.

rs1445157573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:86947050 (GRCh38)
3:86996200 (GRCh37)
Canonical SPDI:: NC_000003.12:86947049:T:C
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.86947050T>C, NC_000003.11:g.86996200T>C, XM_006713138.5:c.952A>G, XM_006713138.4:c.952A>G, XM_006713138.3:c.952A>G, XM_006713138.2:c.952A>G, XM_006713138.1:c.952A>G, NM_016206.4:c.955A>G, NM_016206.3:c.955A>G, NM_016206.2:c.955A>G, NM_001320494.2:c.796A>G, NM_001320494.1:c.796A>G, XP_006713201.1:p.Lys318Glu, NP_057290.2:p.Lys319Glu, NP_001307423.1:p.Lys266Glu

Select item 144315789015.

rs1443157890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:86968702 (GRCh38)
3:87017852 (GRCh37)
Canonical SPDI:: NC_000003.12:86968701:G:A,NC_000003.12:86968701:G:C,NC_000003.12:86968701:G:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000045/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.86968702G>A, NC_000003.12:g.86968702G>C, NC_000003.12:g.86968702G>T, NC_000003.11:g.87017852G>A, NC_000003.11:g.87017852G>C, NC_000003.11:g.87017852G>T, XM_006713138.5:c.822C>T, XM_006713138.5:c.822C>G, XM_006713138.5:c.822C>A, XM_006713138.4:c.822C>T, XM_006713138.4:c.822C>G, XM_006713138.4:c.822C>A, XM_006713138.3:c.822C>T, XM_006713138.3:c.822C>G, XM_006713138.3:c.822C>A, XM_006713138.2:c.822C>T, XM_006713138.2:c.822C>G, XM_006713138.2:c.822C>A, XM_006713138.1:c.822C>T, XM_006713138.1:c.822C>G, XM_006713138.1:c.822C>A, NM_016206.4:c.825C>T, NM_016206.4:c.825C>G, NM_016206.4:c.825C>A, NM_016206.3:c.825C>T, NM_016206.3:c.825C>G, NM_016206.3:c.825C>A, NM_016206.2:c.825C>T, NM_016206.2:c.825C>G, NM_016206.2:c.825C>A, NM_001320494.2:c.666C>T, NM_001320494.2:c.666C>G, NM_001320494.2:c.666C>A, NM_001320494.1:c.666C>T, NM_001320494.1:c.666C>G, NM_001320494.1:c.666C>A, NM_001320493.2:c.825C>T, NM_001320493.2:c.825C>G, NM_001320493.2:c.825C>A, NM_001320493.1:c.825C>T, NM_001320493.1:c.825C>G, NM_001320493.1:c.825C>A

Select item 144049011616.

rs1440490116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:86968816 (GRCh38)
3:87017966 (GRCh37)
Canonical SPDI:: NC_000003.12:86968815:G:C
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968816G>C, NC_000003.11:g.87017966G>C, XM_006713138.5:c.708C>G, XM_006713138.4:c.708C>G, XM_006713138.3:c.708C>G, XM_006713138.2:c.708C>G, XM_006713138.1:c.708C>G, NM_016206.4:c.711C>G, NM_016206.3:c.711C>G, NM_016206.2:c.711C>G, NM_001320494.2:c.552C>G, NM_001320494.1:c.552C>G, NM_001320493.2:c.711C>G, NM_001320493.1:c.711C>G, XP_006713201.1:p.His236Gln, NP_057290.2:p.His237Gln, NP_001307423.1:p.His184Gln, NP_001307422.1:p.His237Gln

Select item 143983374617.

rs1439833746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:86968658 (GRCh38)
3:87017808 (GRCh37)
Canonical SPDI:: NC_000003.12:86968657:G:A
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.86968658G>A, NC_000003.11:g.87017808G>A, XM_006713138.5:c.866C>T, XM_006713138.4:c.866C>T, XM_006713138.3:c.866C>T, XM_006713138.2:c.866C>T, XM_006713138.1:c.866C>T, NM_016206.4:c.869C>T, NM_016206.3:c.869C>T, NM_016206.2:c.869C>T, NM_001320494.2:c.710C>T, NM_001320494.1:c.710C>T, NM_001320493.2:c.869C>T, NM_001320493.1:c.869C>T, XP_006713201.1:p.Ala289Val, NP_057290.2:p.Ala290Val, NP_001307423.1:p.Ala237Val, NP_001307422.1:p.Ala290Val

Select item 143889472018.

rs1438894720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:86968875 (GRCh38)
3:87018025 (GRCh37)
Canonical SPDI:: NC_000003.12:86968874:A:G
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.86968875A>G, NC_000003.11:g.87018025A>G, XM_006713138.5:c.649T>C, XM_006713138.4:c.649T>C, XM_006713138.3:c.649T>C, XM_006713138.2:c.649T>C, XM_006713138.1:c.649T>C, NM_016206.4:c.652T>C, NM_016206.3:c.652T>C, NM_016206.2:c.652T>C, NM_001320494.2:c.493T>C, NM_001320494.1:c.493T>C, NM_001320493.2:c.652T>C, NM_001320493.1:c.652T>C, XP_006713201.1:p.Ser217Pro, NP_057290.2:p.Ser218Pro, NP_001307423.1:p.Ser165Pro, NP_001307422.1:p.Ser218Pro

Select item 143790645319.

rs1437906453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:86968743 (GRCh38)
3:87017893 (GRCh37)
Canonical SPDI:: NC_000003.12:86968742:G:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.86968743G>T, NC_000003.11:g.87017893G>T, XM_006713138.5:c.781C>A, XM_006713138.4:c.781C>A, XM_006713138.3:c.781C>A, XM_006713138.2:c.781C>A, XM_006713138.1:c.781C>A, NM_016206.4:c.784C>A, NM_016206.3:c.784C>A, NM_016206.2:c.784C>A, NM_001320494.2:c.625C>A, NM_001320494.1:c.625C>A, NM_001320493.2:c.784C>A, NM_001320493.1:c.784C>A, XP_006713201.1:p.Leu261Met, NP_057290.2:p.Leu262Met, NP_001307423.1:p.Leu209Met, NP_001307422.1:p.Leu262Met

Select item 143784958320.

rs1437849583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:86968923 (GRCh38)
3:87018073 (GRCh37)
Canonical SPDI:: NC_000003.12:86968922:C:T
Gene:: VGLL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86968923C>T, NC_000003.11:g.87018073C>T, XM_006713138.5:c.601G>A, XM_006713138.4:c.601G>A, XM_006713138.3:c.601G>A, XM_006713138.2:c.601G>A, XM_006713138.1:c.601G>A, NM_016206.4:c.604G>A, NM_016206.3:c.604G>A, NM_016206.2:c.604G>A, NM_001320494.2:c.445G>A, NM_001320494.1:c.445G>A, NM_001320493.2:c.604G>A, NM_001320493.1:c.604G>A, XP_006713201.1:p.Ala201Thr, NP_057290.2:p.Ala202Thr, NP_001307423.1:p.Ala149Thr, NP_001307422.1:p.Ala202Thr

dbSNP

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