SNP Links for Protein (Select 314122241) - SNP

Select item 14908763961.

rs1490876396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31627925 (GRCh38)
6:31595702 (GRCh37)
Canonical SPDI:: NC_000006.12:31627924:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31627925C>T, NC_000006.11:g.31595702C>T, NT_113891.3:g.3105211C>T, NT_113891.2:g.3105317C>T, NT_167248.2:g.2883745C>T, NT_167248.1:g.2889341C>T, NT_167245.2:g.2875689C>T, NT_167245.1:g.2881274C>T, NT_167249.2:g.2927205C>T, NT_167249.1:g.2926503C>T, NT_167246.2:g.2932966C>T, NT_167246.1:g.2938586C>T, NT_167247.2:g.2969805C>T, NT_167247.1:g.2975390C>T, NM_004638.4:c.1451C>T, NM_004638.3:c.1451C>T, NM_080686.3:c.1451C>T, NM_080686.2:c.1451C>T, XM_047419336.1:c.1451C>T, NP_004629.3:p.Ala484Val, NP_542417.2:p.Ala484Val, XP_047275292.1:p.Ala484Val

Select item 14904277102.

rs1490427710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31633859 (GRCh38)
6:31601636 (GRCh37)
Canonical SPDI:: NC_000006.12:31633858:A:C
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0054/64 (ALFA)
C=0.01028/30 (KOREAN)
HGVS:: NC_000006.12:g.31633859A>C, NC_000006.11:g.31601636A>C, NT_113891.3:g.3111146A>C, NT_113891.2:g.3111252A>C, NT_167248.2:g.2889677A>C, NT_167248.1:g.2895273A>C, NT_167245.2:g.2881623A>C, NT_167245.1:g.2887208A>C, NT_167249.2:g.2933140A>C, NT_167249.1:g.2932438A>C, NT_167246.2:g.2938900A>C, NT_167246.1:g.2944520A>C, NT_167247.2:g.2975739A>C, NT_167247.1:g.2981324A>C, NM_004638.4:c.4589A>C, NM_004638.3:c.4589A>C, NM_080686.3:c.4589A>C, NM_080686.2:c.4589A>C, XM_047419336.1:c.4589A>C, NP_004629.3:p.Asp1530Ala, NP_542417.2:p.Asp1530Ala, XP_047275292.1:p.Asp1530Ala

Select item 14901325273.

rs1490132527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:31634473 (GRCh38)
6:31602250 (GRCh37)
Canonical SPDI:: NC_000006.12:31634472:C:A,NC_000006.12:31634472:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31634473C>A, NC_000006.12:g.31634473C>T, NC_000006.11:g.31602250C>A, NC_000006.11:g.31602250C>T, NT_113891.3:g.3111760C>A, NT_113891.3:g.3111760C>T, NT_113891.2:g.3111866C>A, NT_113891.2:g.3111866C>T, NT_167248.2:g.2890291C>A, NT_167248.2:g.2890291C>T, NT_167248.1:g.2895887C>A, NT_167248.1:g.2895887C>T, NT_167245.2:g.2882237C>A, NT_167245.2:g.2882237C>T, NT_167245.1:g.2887822C>A, NT_167245.1:g.2887822C>T, NT_167249.2:g.2933754C>A, NT_167249.2:g.2933754C>T, NT_167249.1:g.2933052C>A, NT_167249.1:g.2933052C>T, NT_167246.2:g.2939514C>A, NT_167246.2:g.2939514C>T, NT_167246.1:g.2945134C>A, NT_167246.1:g.2945134C>T, NT_167247.2:g.2976353C>A, NT_167247.2:g.2976353C>T, NT_167247.1:g.2981938C>A, NT_167247.1:g.2981938C>T, NM_004638.4:c.4851C>A, NM_004638.4:c.4851C>T, NM_004638.3:c.4851C>A, NM_004638.3:c.4851C>T, NM_080686.3:c.4851C>A, NM_080686.3:c.4851C>T, NM_080686.2:c.4851C>A, NM_080686.2:c.4851C>T, XM_047419336.1:c.4851C>A, XM_047419336.1:c.4851C>T

Select item 14895038534.

rs1489503853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31629548 (GRCh38)
6:31597325 (GRCh37)
Canonical SPDI:: NC_000006.12:31629547:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31629548G>A, NC_000006.11:g.31597325G>A, NT_113891.3:g.3106834G>A, NT_113891.2:g.3106940G>A, NT_167248.2:g.2885368G>A, NT_167248.1:g.2890964G>A, NT_167245.2:g.2877312G>A, NT_167245.1:g.2882897G>A, NT_167249.2:g.2928828G>A, NT_167249.1:g.2928126G>A, NT_167246.2:g.2934589G>A, NT_167246.1:g.2940209G>A, NT_167247.2:g.2971428G>A, NT_167247.1:g.2977013G>A, NM_004638.4:c.1957G>A, NM_004638.3:c.1957G>A, NM_080686.3:c.1957G>A, NM_080686.2:c.1957G>A, XM_047419336.1:c.1957G>A, NP_004629.3:p.Glu653Lys, NP_542417.2:p.Glu653Lys, XP_047275292.1:p.Glu653Lys

Select item 14889200185.

rs1488920018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31627854 (GRCh38)
6:31595631 (GRCh37)
Canonical SPDI:: NC_000006.12:31627853:T:A
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31627854T>A, NC_000006.11:g.31595631T>A, NT_113891.3:g.3105140T>A, NT_113891.2:g.3105246T>A, NT_167248.2:g.2883674T>A, NT_167248.1:g.2889270T>A, NT_167245.2:g.2875618T>A, NT_167245.1:g.2881203T>A, NT_167249.2:g.2927134T>A, NT_167249.1:g.2926432T>A, NT_167246.2:g.2932895T>A, NT_167246.1:g.2938515T>A, NT_167247.2:g.2969734T>A, NT_167247.1:g.2975319T>A, NM_004638.4:c.1380T>A, NM_004638.3:c.1380T>A, NM_080686.3:c.1380T>A, NM_080686.2:c.1380T>A, XM_047419336.1:c.1380T>A

Select item 14882201966.

rs1488220196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31630679 (GRCh38)
6:31598456 (GRCh37)
Canonical SPDI:: NC_000006.12:31630678:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31630679C>T, NC_000006.11:g.31598456C>T, NT_113891.3:g.3107966C>T, NT_113891.2:g.3108072C>T, NT_167248.2:g.2886497C>T, NT_167248.1:g.2892093C>T, NT_167245.2:g.2878443C>T, NT_167245.1:g.2884028C>T, NT_167249.2:g.2929960C>T, NT_167249.1:g.2929258C>T, NT_167246.2:g.2935720C>T, NT_167246.1:g.2941340C>T, NT_167247.2:g.2972559C>T, NT_167247.1:g.2978144C>T, NM_004638.4:c.2343C>T, NM_004638.3:c.2343C>T, NM_080686.3:c.2343C>T, NM_080686.2:c.2343C>T, XM_047419336.1:c.2343C>T

Select item 14882142727.

rs1488214272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31632864 (GRCh38)
6:31600641 (GRCh37)
Canonical SPDI:: NC_000006.12:31632863:G:A
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000006.12:g.31632864G>A, NC_000006.11:g.31600641G>A, NT_113891.3:g.3110151G>A, NT_113891.2:g.3110257G>A, NT_167248.2:g.2888682G>A, NT_167248.1:g.2894278G>A, NT_167245.2:g.2880628G>A, NT_167245.1:g.2886213G>A, NT_167249.2:g.2932145G>A, NT_167249.1:g.2931443G>A, NT_167246.2:g.2937905G>A, NT_167246.1:g.2943525G>A, NT_167247.2:g.2974744G>A, NT_167247.1:g.2980329G>A, NM_004638.4:c.4191G>A, NM_004638.3:c.4191G>A, NM_080686.3:c.4191G>A, NM_080686.2:c.4191G>A, XM_047419336.1:c.4191G>A

Select item 14881102318.

rs1488110231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31636275 (GRCh38)
6:31604052 (GRCh37)
Canonical SPDI:: NC_000006.12:31636274:C:G
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31636275C>G, NC_000006.11:g.31604052C>G, NT_113891.3:g.3113562C>G, NT_113891.2:g.3113668C>G, NT_167248.2:g.2892093C>G, NT_167248.1:g.2897689C>G, NT_167245.2:g.2884039C>G, NT_167245.1:g.2889624C>G, NT_167249.2:g.2935556C>G, NT_167249.1:g.2934854C>G, NT_167246.2:g.2941316C>G, NT_167246.1:g.2946936C>G, NT_167247.2:g.2978155C>G, NT_167247.1:g.2983740C>G, NM_004638.4:c.5691C>G, NM_004638.3:c.5691C>G, NM_080686.3:c.5691C>G, NM_080686.2:c.5691C>G, XM_047419336.1:c.5691C>G

Select item 14880820469.

rs1488082046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31628146 (GRCh38)
6:31595923 (GRCh37)
Canonical SPDI:: NC_000006.12:31628145:A:G
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000029/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31628146A>G, NC_000006.11:g.31595923A>G, NT_113891.3:g.3105432A>G, NT_113891.2:g.3105538A>G, NT_167248.2:g.2883966A>G, NT_167248.1:g.2889562A>G, NT_167245.2:g.2875910A>G, NT_167245.1:g.2881495A>G, NT_167249.2:g.2927426A>G, NT_167249.1:g.2926724A>G, NT_167246.2:g.2933187A>G, NT_167246.1:g.2938807A>G, NT_167247.2:g.2970026A>G, NT_167247.1:g.2975611A>G, NM_004638.4:c.1672A>G, NM_004638.3:c.1672A>G, NM_080686.3:c.1672A>G, NM_080686.2:c.1672A>G, XM_047419336.1:c.1672A>G, NP_004629.3:p.Thr558Ala, NP_542417.2:p.Thr558Ala, XP_047275292.1:p.Thr558Ala

Select item 148747181710.

rs1487471817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31632060 (GRCh38)
6:31599837 (GRCh37)
Canonical SPDI:: NC_000006.12:31632059:G:A
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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_000006.12:g.31632060G>A, NC_000006.11:g.31599837G>A, NT_113891.3:g.3109347G>A, NT_113891.2:g.3109453G>A, NT_167248.2:g.2887878G>A, NT_167248.1:g.2893474G>A, NT_167245.2:g.2879824G>A, NT_167245.1:g.2885409G>A, NT_167249.2:g.2931341G>A, NT_167249.1:g.2930639G>A, NT_167246.2:g.2937101G>A, NT_167246.1:g.2942721G>A, NT_167247.2:g.2973940G>A, NT_167247.1:g.2979525G>A, NM_004638.4:c.3387G>A, NM_004638.3:c.3387G>A, NM_080686.3:c.3387G>A, NM_080686.2:c.3387G>A, XM_047419336.1:c.3387G>A

Select item 148727558511.

rs1487275585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:31631271 (GRCh38)
6:31599048 (GRCh37)
Canonical SPDI:: NC_000006.12:31631270:G:C,NC_000006.12:31631270:G:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31631271G>C, NC_000006.12:g.31631271G>T, NC_000006.11:g.31599048G>C, NC_000006.11:g.31599048G>T, NT_113891.3:g.3108558G>C, NT_113891.3:g.3108558G>T, NT_113891.2:g.3108664G>C, NT_113891.2:g.3108664G>T, NT_167248.2:g.2887089G>C, NT_167248.2:g.2887089G>T, NT_167248.1:g.2892685G>C, NT_167248.1:g.2892685G>T, NT_167245.2:g.2879035G>C, NT_167245.2:g.2879035G>T, NT_167245.1:g.2884620G>C, NT_167245.1:g.2884620G>T, NT_167249.2:g.2930552G>C, NT_167249.2:g.2930552G>T, NT_167249.1:g.2929850G>C, NT_167249.1:g.2929850G>T, NT_167246.2:g.2936312G>C, NT_167246.2:g.2936312G>T, NT_167246.1:g.2941932G>C, NT_167246.1:g.2941932G>T, NT_167247.2:g.2973151G>C, NT_167247.2:g.2973151G>T, NT_167247.1:g.2978736G>C, NT_167247.1:g.2978736G>T, NM_004638.4:c.2598G>C, NM_004638.4:c.2598G>T, NM_004638.3:c.2598G>C, NM_004638.3:c.2598G>T, NM_080686.3:c.2598G>C, NM_080686.3:c.2598G>T, NM_080686.2:c.2598G>C, NM_080686.2:c.2598G>T, XM_047419336.1:c.2598G>C, XM_047419336.1:c.2598G>T, NP_004629.3:p.Trp866Cys, NP_004629.3:p.Trp866Cys, NP_542417.2:p.Trp866Cys, NP_542417.2:p.Trp866Cys, XP_047275292.1:p.Trp866Cys, XP_047275292.1:p.Trp866Cys

Select item 148726104712.

rs1487261047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31636882 (GRCh38)
6:31604659 (GRCh37)
Canonical SPDI:: NC_000006.12:31636881:T:A
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31636882T>A, NC_000006.11:g.31604659T>A, NT_113891.3:g.3114169T>A, NT_113891.2:g.3114275T>A, NT_167248.2:g.2892700T>A, NT_167248.1:g.2898296T>A, NT_167245.2:g.2884646T>A, NT_167245.1:g.2890231T>A, NT_167249.2:g.2936163T>A, NT_167249.1:g.2935461T>A, NT_167246.2:g.2941923T>A, NT_167246.1:g.2947543T>A, NT_167247.2:g.2978762T>A, NT_167247.1:g.2984347T>A, NM_004638.4:c.6084T>A, NM_004638.3:c.6084T>A, NM_080686.3:c.6084T>A, NM_080686.2:c.6084T>A

Select item 148711382513.

rs1487113825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31632420 (GRCh38)
6:31600197 (GRCh37)
Canonical SPDI:: NC_000006.12:31632419:G:A
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31632420G>A, NC_000006.11:g.31600197G>A, NT_113891.3:g.3109707G>A, NT_113891.2:g.3109813G>A, NT_167248.2:g.2888238G>A, NT_167248.1:g.2893834G>A, NT_167245.2:g.2880184G>A, NT_167245.1:g.2885769G>A, NT_167249.2:g.2931701G>A, NT_167249.1:g.2930999G>A, NT_167246.2:g.2937461G>A, NT_167246.1:g.2943081G>A, NT_167247.2:g.2974300G>A, NT_167247.1:g.2979885G>A, NM_004638.4:c.3747G>A, NM_004638.3:c.3747G>A, NM_080686.3:c.3747G>A, NM_080686.2:c.3747G>A, XM_047419336.1:c.3747G>A

Select item 148706664114.

rs1487066641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31634940 (GRCh38)
6:31602717 (GRCh37)
Canonical SPDI:: NC_000006.12:31634939:G:C
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31634940G>C, NC_000006.11:g.31602717G>C, NT_113891.3:g.3112227G>C, NT_113891.2:g.3112333G>C, NT_167248.2:g.2890758G>C, NT_167248.1:g.2896354G>C, NT_167245.2:g.2882704G>C, NT_167245.1:g.2888289G>C, NT_167249.2:g.2934221G>C, NT_167249.1:g.2933519G>C, NT_167246.2:g.2939981G>C, NT_167246.1:g.2945601G>C, NT_167247.2:g.2976820G>C, NT_167247.1:g.2982405G>C, NM_004638.4:c.5123G>C, NM_004638.3:c.5123G>C, NM_080686.3:c.5123G>C, NM_080686.2:c.5123G>C, XM_047419336.1:c.5123G>C, NP_004629.3:p.Arg1708Thr, NP_542417.2:p.Arg1708Thr, XP_047275292.1:p.Arg1708Thr

Select item 148684388815.

rs1486843888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31634946 (GRCh38)
6:31602723 (GRCh37)
Canonical SPDI:: NC_000006.12:31634945:C:G,NC_000006.12:31634945:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31634946C>G, NC_000006.12:g.31634946C>T, NC_000006.11:g.31602723C>G, NC_000006.11:g.31602723C>T, NT_113891.3:g.3112233C>G, NT_113891.3:g.3112233C>T, NT_113891.2:g.3112339C>G, NT_113891.2:g.3112339C>T, NT_167248.2:g.2890764C>G, NT_167248.2:g.2890764C>T, NT_167248.1:g.2896360C>G, NT_167248.1:g.2896360C>T, NT_167245.2:g.2882710C>G, NT_167245.2:g.2882710C>T, NT_167245.1:g.2888295C>G, NT_167245.1:g.2888295C>T, NT_167249.2:g.2934227C>G, NT_167249.2:g.2934227C>T, NT_167249.1:g.2933525C>G, NT_167249.1:g.2933525C>T, NT_167246.2:g.2939987C>G, NT_167246.2:g.2939987C>T, NT_167246.1:g.2945607C>G, NT_167246.1:g.2945607C>T, NT_167247.2:g.2976826C>G, NT_167247.2:g.2976826C>T, NT_167247.1:g.2982411C>G, NT_167247.1:g.2982411C>T, NM_004638.4:c.5129C>G, NM_004638.4:c.5129C>T, NM_004638.3:c.5129C>G, NM_004638.3:c.5129C>T, NM_080686.3:c.5129C>G, NM_080686.3:c.5129C>T, NM_080686.2:c.5129C>G, NM_080686.2:c.5129C>T, XM_047419336.1:c.5129C>G, XM_047419336.1:c.5129C>T, NP_004629.3:p.Pro1710Arg, NP_004629.3:p.Pro1710Leu, NP_542417.2:p.Pro1710Arg, NP_542417.2:p.Pro1710Leu, XP_047275292.1:p.Pro1710Arg, XP_047275292.1:p.Pro1710Leu

Select item 148660524616.

rs1486605246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31631760 (GRCh38)
6:31599537 (GRCh37)
Canonical SPDI:: NC_000006.12:31631759:C:G,NC_000006.12:31631759:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31631760C>G, NC_000006.12:g.31631760C>T, NC_000006.11:g.31599537C>G, NC_000006.11:g.31599537C>T, NT_113891.3:g.3109047C>G, NT_113891.3:g.3109047C>T, NT_113891.2:g.3109153C>G, NT_113891.2:g.3109153C>T, NT_167248.2:g.2887578C>G, NT_167248.2:g.2887578C>T, NT_167248.1:g.2893174C>G, NT_167248.1:g.2893174C>T, NT_167245.2:g.2879524C>G, NT_167245.2:g.2879524C>T, NT_167245.1:g.2885109C>G, NT_167245.1:g.2885109C>T, NT_167249.2:g.2931041C>G, NT_167249.2:g.2931041C>T, NT_167249.1:g.2930339C>G, NT_167249.1:g.2930339C>T, NT_167246.2:g.2936801C>G, NT_167246.2:g.2936801C>T, NT_167246.1:g.2942421C>G, NT_167246.1:g.2942421C>T, NT_167247.2:g.2973640C>G, NT_167247.2:g.2973640C>T, NT_167247.1:g.2979225C>G, NT_167247.1:g.2979225C>T, NM_004638.4:c.3087C>G, NM_004638.4:c.3087C>T, NM_004638.3:c.3087C>G, NM_004638.3:c.3087C>T, NM_080686.3:c.3087C>G, NM_080686.3:c.3087C>T, NM_080686.2:c.3087C>G, NM_080686.2:c.3087C>T, XM_047419336.1:c.3087C>G, XM_047419336.1:c.3087C>T

Select item 148650892217.

rs1486508922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31636836 (GRCh38)
6:31604613 (GRCh37)
Canonical SPDI:: NC_000006.12:31636835:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31636836G>A, NC_000006.11:g.31604613G>A, NT_113891.3:g.3114123G>A, NT_113891.2:g.3114229G>A, NT_167248.2:g.2892654G>A, NT_167248.1:g.2898250G>A, NT_167245.2:g.2884600G>A, NT_167245.1:g.2890185G>A, NT_167249.2:g.2936117G>A, NT_167249.1:g.2935415G>A, NT_167246.2:g.2941877G>A, NT_167246.1:g.2947497G>A, NT_167247.2:g.2978716G>A, NT_167247.1:g.2984301G>A, NM_004638.4:c.6038G>A, NM_004638.3:c.6038G>A, NM_080686.3:c.6038G>A, NM_080686.2:c.6038G>A, NP_004629.3:p.Gly2013Asp, NP_542417.2:p.Gly2013Asp

Select item 148644663618.

rs1486446636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:31624454 (GRCh38)
6:31592231 (GRCh37)
Canonical SPDI:: NC_000006.12:31624453:C:A,NC_000006.12:31624453:C:T
Gene:: PRRC2A (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_000006.12:g.31624454C>A, NC_000006.12:g.31624454C>T, NC_000006.11:g.31592231C>A, NC_000006.11:g.31592231C>T, NT_113891.3:g.3101740C>A, NT_113891.3:g.3101740C>T, NT_113891.2:g.3101846C>A, NT_113891.2:g.3101846C>T, NT_167248.2:g.2880274C>A, NT_167248.2:g.2880274C>T, NT_167248.1:g.2885870C>A, NT_167248.1:g.2885870C>T, NT_167245.2:g.2872218C>A, NT_167245.2:g.2872218C>T, NT_167245.1:g.2877803C>A, NT_167245.1:g.2877803C>T, NT_167249.2:g.2923734C>A, NT_167249.2:g.2923734C>T, NT_167249.1:g.2923032C>A, NT_167249.1:g.2923032C>T, NT_167246.2:g.2929495C>A, NT_167246.2:g.2929495C>T, NT_167246.1:g.2935115C>A, NT_167246.1:g.2935115C>T, NT_167247.2:g.2966334C>A, NT_167247.2:g.2966334C>T, NT_167247.1:g.2971919C>A, NT_167247.1:g.2971919C>T, NM_004638.4:c.395C>A, NM_004638.4:c.395C>T, NM_004638.3:c.395C>A, NM_004638.3:c.395C>T, NM_080686.3:c.395C>A, NM_080686.3:c.395C>T, NM_080686.2:c.395C>A, NM_080686.2:c.395C>T, XM_047419336.1:c.395C>A, XM_047419336.1:c.395C>T, NP_004629.3:p.Thr132Asn, NP_004629.3:p.Thr132Ile, NP_542417.2:p.Thr132Asn, NP_542417.2:p.Thr132Ile, XP_047275292.1:p.Thr132Asn, XP_047275292.1:p.Thr132Ile

Select item 148555390119.

rs1485553901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31622899 (GRCh38)
6:31590676 (GRCh37)
Canonical SPDI:: NC_000006.12:31622898:C:A
Gene:: PRRC2A (Varview), SNORA38 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31622899C>A, NC_000006.11:g.31590676C>A, NT_113891.3:g.3100184C>A, NT_113891.2:g.3100290C>A, NT_167248.2:g.2878718C>A, NT_167248.1:g.2884314C>A, NT_167245.2:g.2870666C>A, NT_167245.1:g.2876251C>A, NT_167249.2:g.2922178C>A, NT_167249.1:g.2921476C>A, NT_167246.2:g.2927937C>A, NT_167246.1:g.2933557C>A, NT_167247.2:g.2964784C>A, NT_167247.1:g.2970369C>A, NM_004638.4:c.110C>A, NM_004638.3:c.110C>A, NM_080686.3:c.110C>A, NM_080686.2:c.110C>A, XM_047419336.1:c.110C>A, NP_004629.3:p.Ala37Asp, NP_542417.2:p.Ala37Asp, XP_047275292.1:p.Ala37Asp

Select item 148510758720.

rs1485107587 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGCCG [Show Flanks]
Chromosome:: 6:31632750 (GRCh38)
6:31600528 (GRCh37)
Canonical SPDI:: NC_000006.12:31632750:GGAGCCG:GGAGCCGGAGCCG
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGCCGGAGCCG=0./0 (ALFA)
GGAGCC=0.000004/1 (GnomAD_exomes)
GGAGCC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31632752_31632757dup, NC_000006.11:g.31600529_31600534dup, NT_113891.3:g.3110039_3110044dup, NT_113891.2:g.3110145_3110150dup, NT_167248.2:g.2888570_2888575dup, NT_167248.1:g.2894166_2894171dup, NT_167245.2:g.2880516_2880521dup, NT_167245.1:g.2886101_2886106dup, NT_167249.2:g.2932033_2932038dup, NT_167249.1:g.2931331_2931336dup, NT_167246.2:g.2937793_2937798dup, NT_167246.1:g.2943413_2943418dup, NT_167247.2:g.2974632_2974637dup, NT_167247.1:g.2980217_2980222dup, NM_004638.4:c.4079_4084dup, NM_004638.3:c.4079_4084dup, NM_080686.3:c.4079_4084dup, NM_080686.2:c.4079_4084dup, XM_047419336.1:c.4079_4084dup, NP_004629.3:p.Gly1360_Ala1361dup, NP_542417.2:p.Gly1360_Ala1361dup, XP_047275292.1:p.Gly1360_Ala1361dup

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