SNP Links for Protein (Select 221307575) - SNP

Links from Protein

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Select item 14907410711.

rs1490741071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:100988741 (GRCh38)
11:100859472 (GRCh37)
Canonical SPDI:: NC_000011.10:100988740:A:G
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100988741A>G, NC_000011.9:g.100859472A>G, NM_152432.4:c.2565A>G, NM_152432.3:c.2565A>G, NM_152432.2:c.2565A>G, XM_011542615.3:c.2403A>G, XM_011542615.2:c.2403A>G, XM_011542615.1:c.2403A>G, XM_011542616.3:c.2403A>G, XM_011542616.2:c.2403A>G, XM_011542616.1:c.2403A>G, NM_001367945.1:c.2283A>G, XM_047426418.1:c.2256A>G

Select item 14902262252.

rs1490226225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:100976950 (GRCh38)
11:100847681 (GRCh37)
Canonical SPDI:: NC_000011.10:100976949:G:T
Gene:: ARHGAP42 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.100976950G>T, NC_000011.9:g.100847681G>T, NM_152432.4:c.2372G>T, NM_152432.3:c.2372G>T, NM_152432.2:c.2372G>T, XM_011542615.3:c.2210G>T, XM_011542615.2:c.2210G>T, XM_011542615.1:c.2210G>T, XM_011542616.3:c.2210G>T, XM_011542616.2:c.2210G>T, XM_011542616.1:c.2210G>T, NM_001367945.1:c.2090G>T, XM_047426418.1:c.2063G>T, NP_689645.2:p.Gly791Val, XP_011540917.1:p.Gly737Val, XP_011540918.1:p.Gly737Val, NP_001354874.1:p.Gly697Val, XP_047282374.1:p.Gly688Val

Select item 14885889233.

rs1488588923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:100936239 (GRCh38)
11:100806970 (GRCh37)
Canonical SPDI:: NC_000011.10:100936238:G:A,NC_000011.10:100936238:G:C
Gene:: ARHGAP42 (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)
A=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.100936239G>A, NC_000011.10:g.100936239G>C, NC_000011.9:g.100806970G>A, NC_000011.9:g.100806970G>C, NM_152432.4:c.739G>A, NM_152432.4:c.739G>C, NM_152432.3:c.739G>A, NM_152432.3:c.739G>C, NM_152432.2:c.739G>A, NM_152432.2:c.739G>C, XM_011542615.3:c.577G>A, XM_011542615.3:c.577G>C, XM_011542615.2:c.577G>A, XM_011542615.2:c.577G>C, XM_011542615.1:c.577G>A, XM_011542615.1:c.577G>C, XM_011542616.3:c.577G>A, XM_011542616.3:c.577G>C, XM_011542616.2:c.577G>A, XM_011542616.2:c.577G>C, XM_011542616.1:c.577G>A, XM_011542616.1:c.577G>C, NM_001367945.1:c.457G>A, NM_001367945.1:c.457G>C, XM_047426418.1:c.430G>A, XM_047426418.1:c.430G>C, NP_689645.2:p.Glu247Lys, NP_689645.2:p.Glu247Gln, XP_011540917.1:p.Glu193Lys, XP_011540917.1:p.Glu193Gln, XP_011540918.1:p.Glu193Lys, XP_011540918.1:p.Glu193Gln, NP_001354874.1:p.Glu153Lys, NP_001354874.1:p.Glu153Gln, XP_047282374.1:p.Glu144Lys, XP_047282374.1:p.Glu144Gln

Select item 14874365004.

rs1487436500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:100921594 (GRCh38)
11:100792325 (GRCh37)
Canonical SPDI:: NC_000011.10:100921593:T:A
Gene:: ARHGAP42 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.100921594T>A, NC_000011.9:g.100792325T>A, NM_152432.4:c.587T>A, NM_152432.3:c.587T>A, NM_152432.2:c.587T>A, XM_011542615.3:c.425T>A, XM_011542615.2:c.425T>A, XM_011542615.1:c.425T>A, XM_011542616.3:c.425T>A, XM_011542616.2:c.425T>A, XM_011542616.1:c.425T>A, NM_001367945.1:c.305T>A, XM_047426418.1:c.278T>A, NP_689645.2:p.Phe196Tyr, XP_011540917.1:p.Phe142Tyr, XP_011540918.1:p.Phe142Tyr, NP_001354874.1:p.Phe102Tyr, XP_047282374.1:p.Phe93Tyr

Select item 14869762065.

rs1486976206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:100974518 (GRCh38)
11:100845249 (GRCh37)
Canonical SPDI:: NC_000011.10:100974517:A:G
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100974518A>G, NC_000011.9:g.100845249A>G, NM_152432.4:c.1770A>G, NM_152432.3:c.1770A>G, NM_152432.2:c.1770A>G, XM_011542615.3:c.1608A>G, XM_011542615.2:c.1608A>G, XM_011542615.1:c.1608A>G, XM_011542616.3:c.1608A>G, XM_011542616.2:c.1608A>G, XM_011542616.1:c.1608A>G, NM_001367945.1:c.1488A>G, XM_047426418.1:c.1461A>G

Select item 14854136566.

rs1485413656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:100687822 (GRCh38)
11:100558553 (GRCh37)
Canonical SPDI:: NC_000011.10:100687821:G:A,NC_000011.10:100687821:G:C
Gene:: ARHGAP42 (Varview), ARHGAP42-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_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_000011.10:g.100687822G>A, NC_000011.10:g.100687822G>C, NC_000011.9:g.100558553G>A, NC_000011.9:g.100558553G>C, NM_152432.4:c.144G>A, NM_152432.4:c.144G>C, NM_152432.3:c.144G>A, NM_152432.3:c.144G>C, NM_152432.2:c.144G>A, NM_152432.2:c.144G>C, NM_001367945.1:c.-439G>A, NM_001367945.1:c.-439G>C, NR_133571.1:n.134C>T, NR_133571.1:n.134C>G

Select item 14842938207.

rs1484293820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:100948493 (GRCh38)
11:100819224 (GRCh37)
Canonical SPDI:: NC_000011.10:100948492:T:G
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.100948493T>G, NC_000011.9:g.100819224T>G, NM_152432.4:c.1080T>G, NM_152432.3:c.1080T>G, NM_152432.2:c.1080T>G, XM_011542615.3:c.918T>G, XM_011542615.2:c.918T>G, XM_011542615.1:c.918T>G, XM_011542616.3:c.918T>G, XM_011542616.2:c.918T>G, XM_011542616.1:c.918T>G, NM_001367945.1:c.798T>G, XM_047426418.1:c.771T>G

Select item 14823649998.

rs1482364999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:100936254 (GRCh38)
11:100806985 (GRCh37)
Canonical SPDI:: NC_000011.10:100936253:A:T
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100936254A>T, NC_000011.9:g.100806985A>T, NM_152432.4:c.754A>T, NM_152432.3:c.754A>T, NM_152432.2:c.754A>T, XM_011542615.3:c.592A>T, XM_011542615.2:c.592A>T, XM_011542615.1:c.592A>T, XM_011542616.3:c.592A>T, XM_011542616.2:c.592A>T, XM_011542616.1:c.592A>T, NM_001367945.1:c.472A>T, XM_047426418.1:c.445A>T, NP_689645.2:p.Arg252Trp, XP_011540917.1:p.Arg198Trp, XP_011540918.1:p.Arg198Trp, NP_001354874.1:p.Arg158Trp, XP_047282374.1:p.Arg149Trp

Select item 14812228529.

rs1481222852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:100976114 (GRCh38)
11:100846845 (GRCh37)
Canonical SPDI:: NC_000011.10:100976113:C:T
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.100976114C>T, NC_000011.9:g.100846845C>T, NM_152432.4:c.1913C>T, NM_152432.3:c.1913C>T, NM_152432.2:c.1913C>T, XM_011542615.3:c.1751C>T, XM_011542615.2:c.1751C>T, XM_011542615.1:c.1751C>T, XM_011542616.3:c.1751C>T, XM_011542616.2:c.1751C>T, XM_011542616.1:c.1751C>T, NM_001367945.1:c.1631C>T, XM_047426418.1:c.1604C>T, NP_689645.2:p.Ser638Phe, XP_011540917.1:p.Ser584Phe, XP_011540918.1:p.Ser584Phe, NP_001354874.1:p.Ser544Phe, XP_047282374.1:p.Ser535Phe

Select item 147880201510.

rs1478802015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:100976220 (GRCh38)
11:100846951 (GRCh37)
Canonical SPDI:: NC_000011.10:100976219:A:G
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.100976220A>G, NC_000011.9:g.100846951A>G, NM_152432.4:c.2019A>G, NM_152432.3:c.2019A>G, NM_152432.2:c.2019A>G, XM_011542615.3:c.1857A>G, XM_011542615.2:c.1857A>G, XM_011542615.1:c.1857A>G, XM_011542616.3:c.1857A>G, XM_011542616.2:c.1857A>G, XM_011542616.1:c.1857A>G, NM_001367945.1:c.1737A>G, XM_047426418.1:c.1710A>G

Select item 147735912711.

rs1477359127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:100921551 (GRCh38)
11:100792282 (GRCh37)
Canonical SPDI:: NC_000011.10:100921550:G:A,NC_000011.10:100921550:G:T
Gene:: ARHGAP42 (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.100921551G>A, NC_000011.10:g.100921551G>T, NC_000011.9:g.100792282G>A, NC_000011.9:g.100792282G>T, NM_152432.4:c.544G>A, NM_152432.4:c.544G>T, NM_152432.3:c.544G>A, NM_152432.3:c.544G>T, NM_152432.2:c.544G>A, NM_152432.2:c.544G>T, XM_011542615.3:c.382G>A, XM_011542615.3:c.382G>T, XM_011542615.2:c.382G>A, XM_011542615.2:c.382G>T, XM_011542615.1:c.382G>A, XM_011542615.1:c.382G>T, XM_011542616.3:c.382G>A, XM_011542616.3:c.382G>T, XM_011542616.2:c.382G>A, XM_011542616.2:c.382G>T, XM_011542616.1:c.382G>A, XM_011542616.1:c.382G>T, NM_001367945.1:c.262G>A, NM_001367945.1:c.262G>T, XM_047426418.1:c.235G>A, XM_047426418.1:c.235G>T, NP_689645.2:p.Val182Ile, NP_689645.2:p.Val182Phe, XP_011540917.1:p.Val128Ile, XP_011540917.1:p.Val128Phe, XP_011540918.1:p.Val128Ile, XP_011540918.1:p.Val128Phe, NP_001354874.1:p.Val88Ile, NP_001354874.1:p.Val88Phe, XP_047282374.1:p.Val79Ile, XP_047282374.1:p.Val79Phe

Select item 147458011012.

rs1474580110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:100913494 (GRCh38)
11:100784225 (GRCh37)
Canonical SPDI:: NC_000011.10:100913493:T:G
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100913494T>G, NC_000011.9:g.100784225T>G, NM_152432.4:c.427T>G, NM_152432.3:c.427T>G, NM_152432.2:c.427T>G, XM_011542615.3:c.265T>G, XM_011542615.2:c.265T>G, XM_011542615.1:c.265T>G, XM_011542616.3:c.265T>G, XM_011542616.2:c.265T>G, XM_011542616.1:c.265T>G, NM_001367945.1:c.145T>G, XM_047426418.1:c.118T>G, NP_689645.2:p.Ser143Ala, XP_011540917.1:p.Ser89Ala, XP_011540918.1:p.Ser89Ala, NP_001354874.1:p.Ser49Ala, XP_047282374.1:p.Ser40Ala

Select item 147427438613.

rs1474274386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:100976253 (GRCh38)
11:100846984 (GRCh37)
Canonical SPDI:: NC_000011.10:100976252:T:C
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100976253T>C, NC_000011.9:g.100846984T>C, NM_152432.4:c.2052T>C, NM_152432.3:c.2052T>C, NM_152432.2:c.2052T>C, XM_011542615.3:c.1890T>C, XM_011542615.2:c.1890T>C, XM_011542615.1:c.1890T>C, XM_011542616.3:c.1890T>C, XM_011542616.2:c.1890T>C, XM_011542616.1:c.1890T>C, NM_001367945.1:c.1770T>C, XM_047426418.1:c.1743T>C

Select item 147426111014.

rs1474261110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:100770386 (GRCh38)
11:100641117 (GRCh37)
Canonical SPDI:: NC_000011.10:100770385:T:A,NC_000011.10:100770385:T:C
Gene:: ARHGAP42 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100770386T>A, NC_000011.10:g.100770386T>C, NC_000011.9:g.100641117T>A, NC_000011.9:g.100641117T>C, NM_152432.4:c.198T>A, NM_152432.4:c.198T>C, NM_152432.3:c.198T>A, NM_152432.3:c.198T>C, NM_152432.2:c.198T>A, NM_152432.2:c.198T>C, XM_011542615.3:c.36T>A, XM_011542615.3:c.36T>C, XM_011542615.2:c.36T>A, XM_011542615.2:c.36T>C, XM_011542615.1:c.36T>A, XM_011542615.1:c.36T>C, XM_011542616.3:c.36T>A, XM_011542616.3:c.36T>C, XM_011542616.2:c.36T>A, XM_011542616.2:c.36T>C, XM_011542616.1:c.36T>A, XM_011542616.1:c.36T>C, NM_001367945.1:c.-385T>A, NM_001367945.1:c.-385T>C, NP_689645.2:p.Asp66Glu, XP_011540917.1:p.Asp12Glu, XP_011540918.1:p.Asp12Glu

Select item 147236753415.

rs1472367534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:100976343 (GRCh38)
11:100847074 (GRCh37)
Canonical SPDI:: NC_000011.10:100976342:C:G,NC_000011.10:100976342:C:T
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000044/7 (GnomAD_exomes)
T=0.000068/18 (TOPMED)
T=0.000114/16 (GnomAD)
HGVS:: NC_000011.10:g.100976343C>G, NC_000011.10:g.100976343C>T, NC_000011.9:g.100847074C>G, NC_000011.9:g.100847074C>T, NM_152432.4:c.2142C>G, NM_152432.4:c.2142C>T, NM_152432.3:c.2142C>G, NM_152432.3:c.2142C>T, NM_152432.2:c.2142C>G, NM_152432.2:c.2142C>T, XM_011542615.3:c.1980C>G, XM_011542615.3:c.1980C>T, XM_011542615.2:c.1980C>G, XM_011542615.2:c.1980C>T, XM_011542615.1:c.1980C>G, XM_011542615.1:c.1980C>T, XM_011542616.3:c.1980C>G, XM_011542616.3:c.1980C>T, XM_011542616.2:c.1980C>G, XM_011542616.2:c.1980C>T, XM_011542616.1:c.1980C>G, XM_011542616.1:c.1980C>T, NM_001367945.1:c.1860C>G, NM_001367945.1:c.1860C>T, XM_047426418.1:c.1833C>G, XM_047426418.1:c.1833C>T

Select item 147180744016.

rs1471807440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:100948464 (GRCh38)
11:100819195 (GRCh37)
Canonical SPDI:: NC_000011.10:100948463:A:T
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.100948464A>T, NC_000011.9:g.100819195A>T, NM_152432.4:c.1051A>T, NM_152432.3:c.1051A>T, NM_152432.2:c.1051A>T, XM_011542615.3:c.889A>T, XM_011542615.2:c.889A>T, XM_011542615.1:c.889A>T, XM_011542616.3:c.889A>T, XM_011542616.2:c.889A>T, XM_011542616.1:c.889A>T, NM_001367945.1:c.769A>T, XM_047426418.1:c.742A>T, NP_689645.2:p.Ile351Phe, XP_011540917.1:p.Ile297Phe, XP_011540918.1:p.Ile297Phe, NP_001354874.1:p.Ile257Phe, XP_047282374.1:p.Ile248Phe

Select item 147009766317.

rs1470097663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:100859612 (GRCh38)
11:100730343 (GRCh37)
Canonical SPDI:: NC_000011.10:100859611:T:C
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.100859612T>C, NC_000011.9:g.100730343T>C, NM_152432.4:c.371T>C, NM_152432.3:c.371T>C, NM_152432.2:c.371T>C, XM_011542615.3:c.209T>C, XM_011542615.2:c.209T>C, XM_011542615.1:c.209T>C, XM_011542616.3:c.209T>C, XM_011542616.2:c.209T>C, XM_011542616.1:c.209T>C, NM_001367945.1:c.89T>C, XM_047426418.1:c.62T>C, NP_689645.2:p.Ile124Thr, XP_011540917.1:p.Ile70Thr, XP_011540918.1:p.Ile70Thr, NP_001354874.1:p.Ile30Thr, XP_047282374.1:p.Ile21Thr

Select item 146875890318.

rs1468758903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:100976965 (GRCh38)
11:100847696 (GRCh37)
Canonical SPDI:: NC_000011.10:100976964:G:C
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000057/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.100976965G>C, NC_000011.9:g.100847696G>C, NM_152432.4:c.2387G>C, NM_152432.3:c.2387G>C, NM_152432.2:c.2387G>C, XM_011542615.3:c.2225G>C, XM_011542615.2:c.2225G>C, XM_011542615.1:c.2225G>C, XM_011542616.3:c.2225G>C, XM_011542616.2:c.2225G>C, XM_011542616.1:c.2225G>C, NM_001367945.1:c.2105G>C, XM_047426418.1:c.2078G>C, NP_689645.2:p.Gly796Ala, XP_011540917.1:p.Gly742Ala, XP_011540918.1:p.Gly742Ala, NP_001354874.1:p.Gly702Ala, XP_047282374.1:p.Gly693Ala

Select item 146660083419.

rs1466600834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:100921536 (GRCh38)
11:100792267 (GRCh37)
Canonical SPDI:: NC_000011.10:100921535:G:A
Gene:: ARHGAP42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.100921536G>A, NC_000011.9:g.100792267G>A, NM_152432.4:c.529G>A, NM_152432.3:c.529G>A, NM_152432.2:c.529G>A, XM_011542615.3:c.367G>A, XM_011542615.2:c.367G>A, XM_011542615.1:c.367G>A, XM_011542616.3:c.367G>A, XM_011542616.2:c.367G>A, XM_011542616.1:c.367G>A, NM_001367945.1:c.247G>A, XM_047426418.1:c.220G>A, NP_689645.2:p.Ala177Thr, XP_011540917.1:p.Ala123Thr, XP_011540918.1:p.Ala123Thr, NP_001354874.1:p.Ala83Thr, XP_047282374.1:p.Ala74Thr

Select item 146612234520.

rs1466122345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:100978992 (GRCh38)
11:100849723 (GRCh37)
Canonical SPDI:: NC_000011.10:100978991:C:T
Gene:: ARHGAP42 (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)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.100978992C>T, NC_000011.9:g.100849723C>T, NM_152432.4:c.2399C>T, NM_152432.3:c.2399C>T, NM_152432.2:c.2399C>T, XM_011542615.3:c.2237C>T, XM_011542615.2:c.2237C>T, XM_011542615.1:c.2237C>T, XM_011542616.3:c.2237C>T, XM_011542616.2:c.2237C>T, XM_011542616.1:c.2237C>T, NM_001367945.1:c.2117C>T, XM_047426418.1:c.2090C>T, NP_689645.2:p.Ala800Val, XP_011540917.1:p.Ala746Val, XP_011540918.1:p.Ala746Val, NP_001354874.1:p.Ala706Val, XP_047282374.1:p.Ala697Val

dbSNP

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