SNP Links for Protein (Select 212286179) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44198698 (GRCh38)
22:44594578 (GRCh37)
Canonical SPDI:: NC_000022.11:44198697:C:T
Gene:: PARVG (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44198698C>T, NC_000022.10:g.44594578C>T, NM_022141.7:c.789C>T, NM_022141.6:c.789C>T, NM_001137605.3:c.789C>T, NM_001137605.2:c.789C>T, NM_001137606.1:c.789C>T

Select item 145881582113.

rs1458815821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44196161 (GRCh38)
22:44592041 (GRCh37)
Canonical SPDI:: NC_000022.11:44196160:T:C
Gene:: PARVG (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_000022.11:g.44196161T>C, NC_000022.10:g.44592041T>C, NM_022141.7:c.590T>C, NM_022141.6:c.590T>C, NM_001137605.3:c.590T>C, NM_001137605.2:c.590T>C, NM_001137606.1:c.590T>C, XM_047441455.1:c.791T>C, NP_071424.1:p.Val197Ala, NP_001131077.1:p.Val197Ala, XP_047297411.1:p.Val264Ala

Select item 145532635914.

rs1455326359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:44189120 (GRCh38)
22:44585000 (GRCh37)
Canonical SPDI:: NC_000022.11:44189119:T:G
Gene:: PARVG (Varview)
Functional Consequence:: missense_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_000022.11:g.44189120T>G, NC_000022.10:g.44585000T>G, NM_022141.7:c.254T>G, NM_022141.6:c.254T>G, NM_001137605.3:c.254T>G, NM_001137605.2:c.254T>G, NM_001137606.1:c.254T>G, XM_047441455.1:c.455T>G, NP_071424.1:p.Leu85Arg, NP_001131077.1:p.Leu85Arg, XP_047297411.1:p.Leu152Arg

Select item 145153153115.

rs1451531531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:44189204 (GRCh38)
22:44585084 (GRCh37)
Canonical SPDI:: NC_000022.11:44189203:T:G
Gene:: PARVG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44189204T>G, NC_000022.10:g.44585084T>G, NM_022141.7:c.338T>G, NM_022141.6:c.338T>G, NM_001137605.3:c.338T>G, NM_001137605.2:c.338T>G, NM_001137606.1:c.338T>G, XM_047441455.1:c.539T>G, NP_071424.1:p.Val113Gly, NP_001131077.1:p.Val113Gly, XP_047297411.1:p.Val180Gly

Select item 144727001616.

rs1447270016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44196372 (GRCh38)
22:44592252 (GRCh37)
Canonical SPDI:: NC_000022.11:44196371:A:G
Gene:: PARVG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44196372A>G, NC_000022.10:g.44592252A>G, NM_022141.7:c.668A>G, NM_022141.6:c.668A>G, NM_001137605.3:c.668A>G, NM_001137605.2:c.668A>G, NM_001137606.1:c.668A>G, XM_047441455.1:c.869A>G, NP_071424.1:p.Lys223Arg, NP_001131077.1:p.Lys223Arg, XP_047297411.1:p.Lys290Arg

Select item 144478518217.

rs1444785182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44190627 (GRCh38)
22:44586507 (GRCh37)
Canonical SPDI:: NC_000022.11:44190626:C:T
Gene:: PARVG (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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.44190627C>T, NC_000022.10:g.44586507C>T, NM_022141.7:c.465C>T, NM_022141.6:c.465C>T, NM_001137605.3:c.465C>T, NM_001137605.2:c.465C>T, NM_001137606.1:c.465C>T, XM_047441455.1:c.666C>T

Select item 144006063318.

rs1440060633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44206332 (GRCh38)
22:44602212 (GRCh37)
Canonical SPDI:: NC_000022.11:44206331:A:G
Gene:: PARVG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.44206332A>G, NC_000022.10:g.44602212A>G, NM_022141.7:c.902A>G, NM_022141.6:c.902A>G, NM_001137605.3:c.902A>G, NM_001137605.2:c.902A>G, NM_001137606.1:c.902A>G, NP_071424.1:p.Asp301Gly, NP_001131077.1:p.Asp301Gly

Select item 143963013119.

rs1439630131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44185813 (GRCh38)
22:44581693 (GRCh37)
Canonical SPDI:: NC_000022.11:44185812:A:G
Gene:: PARVG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.44185813A>G, NC_000022.10:g.44581693A>G, NM_022141.7:c.85A>G, NM_022141.6:c.85A>G, NM_001137605.3:c.85A>G, NM_001137605.2:c.85A>G, NM_001137606.1:c.85A>G, NR_024426.1:n.569A>G, NM_001254741.1:c.85A>G, XM_047441455.1:c.286A>G, NR_024427.1:n.333A>G, NM_001254742.1:c.286A>G, NR_024428.1:n.308A>G, NM_001254743.1:c.85A>G, NP_071424.1:p.Lys29Glu, NP_001131077.1:p.Lys29Glu, XP_047297411.1:p.Lys96Glu

Select item 143721570720.

rs1437215707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:44206355 (GRCh38)
22:44602235 (GRCh37)
Canonical SPDI:: NC_000022.11:44206354:C:A,NC_000022.11:44206354:C:T
Gene:: PARVG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.44206355C>A, NC_000022.11:g.44206355C>T, NC_000022.10:g.44602235C>A, NC_000022.10:g.44602235C>T, NM_022141.7:c.925C>A, NM_022141.7:c.925C>T, NM_022141.6:c.925C>A, NM_022141.6:c.925C>T, NM_001137605.3:c.925C>A, NM_001137605.3:c.925C>T, NM_001137605.2:c.925C>A, NM_001137605.2:c.925C>T, NM_001137606.1:c.925C>A, NM_001137606.1:c.925C>T, NP_071424.1:p.Leu309Ile, NP_071424.1:p.Leu309Phe, NP_001131077.1:p.Leu309Ile, NP_001131077.1:p.Leu309Phe

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