SNP Links for Protein (Select 669033305) - SNP

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Links from Protein

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Select item 14892862251.

rs1489286225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:81868389 (GRCh38)
17:79826265 (GRCh37)
Canonical SPDI:: NC_000017.11:81868388:C:A
Gene:: ARHGDIA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000016/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81868389C>A, NC_000017.10:g.79826265C>A, NG_034210.1:g.8018G>T, NM_004309.6:c.*487G>T, NM_004309.5:c.*487G>T, NM_004309.4:c.*487G>T, NM_001185077.3:c.*487G>T, NM_001185077.2:c.*487G>T, NM_001185077.1:c.*487G>T, NM_001185078.3:c.*487G>T, NM_001185078.2:c.*487G>T, NM_001185078.1:c.*487G>T, NM_001301243.2:c.*487G>T, NM_001301243.1:c.*487G>T, NR_125441.2:n.1092G>T, NR_125441.1:n.1161G>T, NM_001301241.2:c.698G>T, NM_001301241.1:c.698G>T, NM_001301242.2:c.990G>T, NM_001301242.1:c.990G>T, NM_001301240.2:c.698G>T, NM_001301240.1:c.698G>T, XM_011523574.2:c.*487G>T, XM_011523574.1:c.*487G>T, NP_001288170.1:p.Gly233Val, NP_001288169.1:p.Gly233Val

Select item 14852442672.

rs1485244267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81869887 (GRCh38)
17:79827763 (GRCh37)
Canonical SPDI:: NC_000017.11:81869886:G:A
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81869887G>A, NC_000017.10:g.79827763G>A, NG_034210.1:g.6520C>T, NM_004309.6:c.44C>T, NM_004309.5:c.44C>T, NM_004309.4:c.44C>T, NM_001185077.3:c.44C>T, NM_001185077.2:c.44C>T, NM_001185077.1:c.44C>T, NM_001185078.3:c.44C>T, NM_001185078.2:c.44C>T, NM_001185078.1:c.44C>T, NM_001301243.2:c.44C>T, NM_001301243.1:c.44C>T, NR_125441.2:n.111C>T, NR_125441.1:n.180C>T, NM_001301241.2:c.44C>T, NM_001301241.1:c.44C>T, NM_001301242.2:c.44C>T, NM_001301242.1:c.44C>T, NM_001301240.2:c.44C>T, NM_001301240.1:c.44C>T, XM_011523574.2:c.44C>T, XM_011523574.1:c.44C>T, NP_004300.1:p.Ala15Val, NP_001172006.1:p.Ala15Val, NP_001172007.1:p.Ala15Val, NP_001288172.1:p.Ala15Val, NP_001288170.1:p.Ala15Val, NP_001288171.1:p.Ala15Val, NP_001288169.1:p.Ala15Val, XP_011521876.1:p.Ala15Val

Select item 14777525983.

rs1477752598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81869041 (GRCh38)
17:79826917 (GRCh37)
Canonical SPDI:: NC_000017.11:81869040:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81869041C>T, NC_000017.10:g.79826917C>T, NG_034210.1:g.7366G>A, NM_004309.6:c.450G>A, NM_004309.5:c.450G>A, NM_004309.4:c.450G>A, NM_001185077.3:c.450G>A, NM_001185077.2:c.450G>A, NM_001185077.1:c.450G>A, NM_001301243.2:c.585G>A, NM_001301243.1:c.585G>A, NR_125441.2:n.440G>A, NR_125441.1:n.509G>A, NM_001301241.2:c.450G>A, NM_001301241.1:c.450G>A, NM_001301240.2:c.450G>A, NM_001301240.1:c.450G>A, XM_011523574.2:c.585G>A, XM_011523574.1:c.585G>A

Select item 14748745324.

rs1474874532 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCCCCACGAGGCCGTGCATCCCACAC>- [Show Flanks]
Chromosome:: 17:81868441 (GRCh38)
17:79826317 (GRCh37)
Canonical SPDI:: NC_000017.11:81868439:CGGCCCCCACGAGGCCGTGCATCCCACAC:C
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81868441_81868468del, NC_000017.10:g.79826317_79826344del, NG_034210.1:g.7940_7967del, NM_004309.6:c.*409_*436del, NM_004309.5:c.*409_*436del, NM_004309.4:c.*409_*436del, NM_001185077.3:c.*409_*436del, NM_001185077.2:c.*409_*436del, NM_001185077.1:c.*409_*436del, NM_001185078.3:c.*409_*436del, NM_001185078.2:c.*409_*436del, NM_001185078.1:c.*409_*436del, NM_001301243.2:c.*409_*436del, NM_001301243.1:c.*409_*436del, NR_125441.2:n.1014_1041del, NR_125441.1:n.1083_1110del, NM_001301241.2:c.620_647del, NM_001301241.1:c.620_647del, NM_001301242.2:c.912_939del, NM_001301242.1:c.912_939del, NM_001301240.2:c.620_647del, NM_001301240.1:c.620_647del, XM_011523574.2:c.*409_*436del, XM_011523574.1:c.*409_*436del, NP_001288170.1:p.Val207fs, NP_001288171.1:p.Val305fs, NP_001288169.1:p.Val207fs

Select item 14744807155.

rs1474480715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81869570 (GRCh38)
17:79827446 (GRCh37)
Canonical SPDI:: NC_000017.11:81869569:G:A
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81869570G>A, NC_000017.10:g.79827446G>A, NG_034210.1:g.6837C>T, NM_004309.6:c.246C>T, NM_004309.5:c.246C>T, NM_004309.4:c.246C>T, NM_001185077.3:c.246C>T, NM_001185077.2:c.246C>T, NM_001185077.1:c.246C>T, NM_001185078.3:c.246C>T, NM_001185078.2:c.246C>T, NM_001185078.1:c.246C>T, NM_001301243.2:c.246C>T, NM_001301243.1:c.246C>T, NR_125441.2:n.313C>T, NR_125441.1:n.382C>T, NM_001301241.2:c.246C>T, NM_001301241.1:c.246C>T, NM_001301242.2:c.246C>T, NM_001301242.1:c.246C>T, NM_001301240.2:c.246C>T, NM_001301240.1:c.246C>T, XM_011523574.2:c.246C>T, XM_011523574.1:c.246C>T

Select item 14729793316.

rs1472979331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81868487 (GRCh38)
17:79826363 (GRCh37)
Canonical SPDI:: NC_000017.11:81868486:C:G,NC_000017.11:81868486:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81868487C>G, NC_000017.11:g.81868487C>T, NC_000017.10:g.79826363C>G, NC_000017.10:g.79826363C>T, NG_034210.1:g.7920G>C, NG_034210.1:g.7920G>A, NM_004309.6:c.*389G>C, NM_004309.6:c.*389G>A, NM_004309.5:c.*389G>C, NM_004309.5:c.*389G>A, NM_004309.4:c.*389G>C, NM_004309.4:c.*389G>A, NM_001185077.3:c.*389G>C, NM_001185077.3:c.*389G>A, NM_001185077.2:c.*389G>C, NM_001185077.2:c.*389G>A, NM_001185077.1:c.*389G>C, NM_001185077.1:c.*389G>A, NM_001185078.3:c.*389G>C, NM_001185078.3:c.*389G>A, NM_001185078.2:c.*389G>C, NM_001185078.2:c.*389G>A, NM_001185078.1:c.*389G>C, NM_001185078.1:c.*389G>A, NM_001301243.2:c.*389G>C, NM_001301243.2:c.*389G>A, NM_001301243.1:c.*389G>C, NM_001301243.1:c.*389G>A, NR_125441.2:n.994G>C, NR_125441.2:n.994G>A, NR_125441.1:n.1063G>C, NR_125441.1:n.1063G>A, NM_001301241.2:c.600G>C, NM_001301241.2:c.600G>A, NM_001301241.1:c.600G>C, NM_001301241.1:c.600G>A, NM_001301242.2:c.892G>C, NM_001301242.2:c.892G>A, NM_001301242.1:c.892G>C, NM_001301242.1:c.892G>A, NM_001301240.2:c.600G>C, NM_001301240.2:c.600G>A, NM_001301240.1:c.600G>C, NM_001301240.1:c.600G>A, XM_011523574.2:c.*389G>C, XM_011523574.2:c.*389G>A, XM_011523574.1:c.*389G>C, XM_011523574.1:c.*389G>A, NP_001288171.1:p.Ala298Pro, NP_001288171.1:p.Ala298Thr

Select item 14720851507.

rs1472085150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81869548 (GRCh38)
17:79827424 (GRCh37)
Canonical SPDI:: NC_000017.11:81869547:G:C
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.81869548G>C, NC_000017.10:g.79827424G>C, NG_034210.1:g.6859C>G, NM_004309.6:c.268C>G, NM_004309.5:c.268C>G, NM_004309.4:c.268C>G, NM_001185077.3:c.268C>G, NM_001185077.2:c.268C>G, NM_001185077.1:c.268C>G, NM_001185078.3:c.268C>G, NM_001185078.2:c.268C>G, NM_001185078.1:c.268C>G, NM_001301243.2:c.268C>G, NM_001301243.1:c.268C>G, NR_125441.2:n.335C>G, NR_125441.1:n.404C>G, NM_001301241.2:c.268C>G, NM_001301241.1:c.268C>G, NM_001301242.2:c.268C>G, NM_001301242.1:c.268C>G, NM_001301240.2:c.268C>G, NM_001301240.1:c.268C>G, XM_011523574.2:c.268C>G, XM_011523574.1:c.268C>G, NP_004300.1:p.Leu90Val, NP_001172006.1:p.Leu90Val, NP_001172007.1:p.Leu90Val, NP_001288172.1:p.Leu90Val, NP_001288170.1:p.Leu90Val, NP_001288171.1:p.Leu90Val, NP_001288169.1:p.Leu90Val, XP_011521876.1:p.Leu90Val

Select item 14715014708.

rs1471501470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81869387 (GRCh38)
17:79827263 (GRCh37)
Canonical SPDI:: NC_000017.11:81869386:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81869387C>T, NC_000017.10:g.79827263C>T, NG_034210.1:g.7020G>A, NM_004309.6:c.294G>A, NM_004309.5:c.294G>A, NM_004309.4:c.294G>A, NM_001185077.3:c.294G>A, NM_001185077.2:c.294G>A, NM_001185077.1:c.294G>A, NM_001185078.3:c.294G>A, NM_001185078.2:c.294G>A, NM_001185078.1:c.294G>A, NM_001301243.2:c.429G>A, NM_001301243.1:c.429G>A, NM_001301241.2:c.294G>A, NM_001301241.1:c.294G>A, NM_001301242.2:c.294G>A, NM_001301242.1:c.294G>A, NM_001301240.2:c.294G>A, NM_001301240.1:c.294G>A, XM_011523574.2:c.429G>A, XM_011523574.1:c.429G>A

Select item 14693796679.

rs1469379667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81869405 (GRCh38)
17:79827281 (GRCh37)
Canonical SPDI:: NC_000017.11:81869404:G:A,NC_000017.11:81869404:G:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81869405G>A, NC_000017.11:g.81869405G>T, NC_000017.10:g.79827281G>A, NC_000017.10:g.79827281G>T, NG_034210.1:g.7002C>T, NG_034210.1:g.7002C>A, NM_004309.6:c.276C>T, NM_004309.6:c.276C>A, NM_004309.5:c.276C>T, NM_004309.5:c.276C>A, NM_004309.4:c.276C>T, NM_004309.4:c.276C>A, NM_001185077.3:c.276C>T, NM_001185077.3:c.276C>A, NM_001185077.2:c.276C>T, NM_001185077.2:c.276C>A, NM_001185077.1:c.276C>T, NM_001185077.1:c.276C>A, NM_001185078.3:c.276C>T, NM_001185078.3:c.276C>A, NM_001185078.2:c.276C>T, NM_001185078.2:c.276C>A, NM_001185078.1:c.276C>T, NM_001185078.1:c.276C>A, NM_001301243.2:c.411C>T, NM_001301243.2:c.411C>A, NM_001301243.1:c.411C>T, NM_001301243.1:c.411C>A, NM_001301241.2:c.276C>T, NM_001301241.2:c.276C>A, NM_001301241.1:c.276C>T, NM_001301241.1:c.276C>A, NM_001301242.2:c.276C>T, NM_001301242.2:c.276C>A, NM_001301242.1:c.276C>T, NM_001301242.1:c.276C>A, NM_001301240.2:c.276C>T, NM_001301240.2:c.276C>A, NM_001301240.1:c.276C>T, NM_001301240.1:c.276C>A, XM_011523574.2:c.411C>T, XM_011523574.2:c.411C>A, XM_011523574.1:c.411C>T, XM_011523574.1:c.411C>A

Select item 146837952610.

rs1468379526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81869865 (GRCh38)
17:79827741 (GRCh37)
Canonical SPDI:: NC_000017.11:81869864:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81869865C>T, NC_000017.10:g.79827741C>T, NG_034210.1:g.6542G>A, NM_004309.6:c.66G>A, NM_004309.5:c.66G>A, NM_004309.4:c.66G>A, NM_001185077.3:c.66G>A, NM_001185077.2:c.66G>A, NM_001185077.1:c.66G>A, NM_001185078.3:c.66G>A, NM_001185078.2:c.66G>A, NM_001185078.1:c.66G>A, NM_001301243.2:c.66G>A, NM_001301243.1:c.66G>A, NR_125441.2:n.133G>A, NR_125441.1:n.202G>A, NM_001301241.2:c.66G>A, NM_001301241.1:c.66G>A, NM_001301242.2:c.66G>A, NM_001301242.1:c.66G>A, NM_001301240.2:c.66G>A, NM_001301240.1:c.66G>A, XM_011523574.2:c.66G>A, XM_011523574.1:c.66G>A

Select item 146676011511.

rs1466760115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81869071 (GRCh38)
17:79826947 (GRCh37)
Canonical SPDI:: NC_000017.11:81869070:G:C
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81869071G>C, NC_000017.10:g.79826947G>C, NG_034210.1:g.7336C>G, NM_004309.6:c.420C>G, NM_004309.5:c.420C>G, NM_004309.4:c.420C>G, NM_001185077.3:c.420C>G, NM_001185077.2:c.420C>G, NM_001185077.1:c.420C>G, NM_001301243.2:c.555C>G, NM_001301243.1:c.555C>G, NR_125441.2:n.410C>G, NR_125441.1:n.479C>G, NM_001301241.2:c.420C>G, NM_001301241.1:c.420C>G, NM_001301242.2:c.420C>G, NM_001301242.1:c.420C>G, NM_001301240.2:c.420C>G, NM_001301240.1:c.420C>G, XM_011523574.2:c.555C>G, XM_011523574.1:c.555C>G, NP_004300.1:p.Asp140Glu, NP_001172006.1:p.Asp140Glu, NP_001288172.1:p.Asp185Glu, NP_001288170.1:p.Asp140Glu, NP_001288171.1:p.Asp140Glu, NP_001288169.1:p.Asp140Glu, XP_011521876.1:p.Asp185Glu

Select item 146609045312.

rs1466090453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81868541 (GRCh38)
17:79826417 (GRCh37)
Canonical SPDI:: NC_000017.11:81868540:C:G,NC_000017.11:81868540:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81868541C>G, NC_000017.11:g.81868541C>T, NC_000017.10:g.79826417C>G, NC_000017.10:g.79826417C>T, NG_034210.1:g.7866G>C, NG_034210.1:g.7866G>A, NM_004309.6:c.*335G>C, NM_004309.6:c.*335G>A, NM_004309.5:c.*335G>C, NM_004309.5:c.*335G>A, NM_004309.4:c.*335G>C, NM_004309.4:c.*335G>A, NM_001185077.3:c.*335G>C, NM_001185077.3:c.*335G>A, NM_001185077.2:c.*335G>C, NM_001185077.2:c.*335G>A, NM_001185077.1:c.*335G>C, NM_001185077.1:c.*335G>A, NM_001185078.3:c.*335G>C, NM_001185078.3:c.*335G>A, NM_001185078.2:c.*335G>C, NM_001185078.2:c.*335G>A, NM_001185078.1:c.*335G>C, NM_001185078.1:c.*335G>A, NM_001301243.2:c.*335G>C, NM_001301243.2:c.*335G>A, NM_001301243.1:c.*335G>C, NM_001301243.1:c.*335G>A, NR_125441.2:n.940G>C, NR_125441.2:n.940G>A, NR_125441.1:n.1009G>C, NR_125441.1:n.1009G>A, NM_001301241.2:c.546G>C, NM_001301241.2:c.546G>A, NM_001301241.1:c.546G>C, NM_001301241.1:c.546G>A, NM_001301242.2:c.838G>C, NM_001301242.2:c.838G>A, NM_001301242.1:c.838G>C, NM_001301242.1:c.838G>A, NM_001301240.2:c.546G>C, NM_001301240.2:c.546G>A, NM_001301240.1:c.546G>C, NM_001301240.1:c.546G>A, XM_011523574.2:c.*335G>C, XM_011523574.2:c.*335G>A, XM_011523574.1:c.*335G>C, XM_011523574.1:c.*335G>A, NP_001288170.1:p.Glu182Asp, NP_001288171.1:p.Ala280Pro, NP_001288171.1:p.Ala280Thr, NP_001288169.1:p.Glu182Asp

Select item 146287855113.

rs1462878551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81869567 (GRCh38)
17:79827443 (GRCh37)
Canonical SPDI:: NC_000017.11:81869566:C:G,NC_000017.11:81869566:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (KOREAN)
HGVS:: NC_000017.11:g.81869567C>G, NC_000017.11:g.81869567C>T, NC_000017.10:g.79827443C>G, NC_000017.10:g.79827443C>T, NG_034210.1:g.6840G>C, NG_034210.1:g.6840G>A, NM_004309.6:c.249G>C, NM_004309.6:c.249G>A, NM_004309.5:c.249G>C, NM_004309.5:c.249G>A, NM_004309.4:c.249G>C, NM_004309.4:c.249G>A, NM_001185077.3:c.249G>C, NM_001185077.3:c.249G>A, NM_001185077.2:c.249G>C, NM_001185077.2:c.249G>A, NM_001185077.1:c.249G>C, NM_001185077.1:c.249G>A, NM_001185078.3:c.249G>C, NM_001185078.3:c.249G>A, NM_001185078.2:c.249G>C, NM_001185078.2:c.249G>A, NM_001185078.1:c.249G>C, NM_001185078.1:c.249G>A, NM_001301243.2:c.249G>C, NM_001301243.2:c.249G>A, NM_001301243.1:c.249G>C, NM_001301243.1:c.249G>A, NR_125441.2:n.316G>C, NR_125441.2:n.316G>A, NR_125441.1:n.385G>C, NR_125441.1:n.385G>A, NM_001301241.2:c.249G>C, NM_001301241.2:c.249G>A, NM_001301241.1:c.249G>C, NM_001301241.1:c.249G>A, NM_001301242.2:c.249G>C, NM_001301242.2:c.249G>A, NM_001301242.1:c.249G>C, NM_001301242.1:c.249G>A, NM_001301240.2:c.249G>C, NM_001301240.2:c.249G>A, NM_001301240.1:c.249G>C, NM_001301240.1:c.249G>A, XM_011523574.2:c.249G>C, XM_011523574.2:c.249G>A, XM_011523574.1:c.249G>C, XM_011523574.1:c.249G>A

Select item 146070309714.

rs1460703097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81868397 (GRCh38)
17:79826273 (GRCh37)
Canonical SPDI:: NC_000017.11:81868396:G:A
Gene:: ARHGDIA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.81868397G>A, NC_000017.10:g.79826273G>A, NG_034210.1:g.8010C>T, NM_004309.6:c.*479C>T, NM_004309.5:c.*479C>T, NM_004309.4:c.*479C>T, NM_001185077.3:c.*479C>T, NM_001185077.2:c.*479C>T, NM_001185077.1:c.*479C>T, NM_001185078.3:c.*479C>T, NM_001185078.2:c.*479C>T, NM_001185078.1:c.*479C>T, NM_001301243.2:c.*479C>T, NM_001301243.1:c.*479C>T, NR_125441.2:n.1084C>T, NR_125441.1:n.1153C>T, NM_001301241.2:c.690C>T, NM_001301241.1:c.690C>T, NM_001301242.2:c.982C>T, NM_001301242.1:c.982C>T, NM_001301240.2:c.690C>T, NM_001301240.1:c.690C>T, XM_011523574.2:c.*479C>T, XM_011523574.1:c.*479C>T, NP_001288171.1:p.Arg328Cys

Select item 145264451315.

rs1452644513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81869044 (GRCh38)
17:79826920 (GRCh37)
Canonical SPDI:: NC_000017.11:81869043:A:G
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.81869044A>G, NC_000017.10:g.79826920A>G, NG_034210.1:g.7363T>C, NM_004309.6:c.447T>C, NM_004309.5:c.447T>C, NM_004309.4:c.447T>C, NM_001185077.3:c.447T>C, NM_001185077.2:c.447T>C, NM_001185077.1:c.447T>C, NM_001301243.2:c.582T>C, NM_001301243.1:c.582T>C, NR_125441.2:n.437T>C, NR_125441.1:n.506T>C, NM_001301241.2:c.447T>C, NM_001301241.1:c.447T>C, NM_001301240.2:c.447T>C, NM_001301240.1:c.447T>C, XM_011523574.2:c.582T>C, XM_011523574.1:c.582T>C

Select item 145053539116.

rs1450535391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81869786 (GRCh38)
17:79827662 (GRCh37)
Canonical SPDI:: NC_000017.11:81869785:G:A
Gene:: ARHGDIA (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81869786G>A, NC_000017.10:g.79827662G>A, NG_034210.1:g.6621C>T, NM_004309.6:c.145C>T, NM_004309.5:c.145C>T, NM_004309.4:c.145C>T, NM_001185077.3:c.145C>T, NM_001185077.2:c.145C>T, NM_001185077.1:c.145C>T, NM_001185078.3:c.145C>T, NM_001185078.2:c.145C>T, NM_001185078.1:c.145C>T, NM_001301243.2:c.145C>T, NM_001301243.1:c.145C>T, NR_125441.2:n.212C>T, NR_125441.1:n.281C>T, NM_001301241.2:c.145C>T, NM_001301241.1:c.145C>T, NM_001301242.2:c.145C>T, NM_001301242.1:c.145C>T, NM_001301240.2:c.145C>T, NM_001301240.1:c.145C>T, XM_011523574.2:c.145C>T, XM_011523574.1:c.145C>T, NP_004300.1:p.Arg49Ter, NP_001172006.1:p.Arg49Ter, NP_001172007.1:p.Arg49Ter, NP_001288172.1:p.Arg49Ter, NP_001288170.1:p.Arg49Ter, NP_001288171.1:p.Arg49Ter, NP_001288169.1:p.Arg49Ter, XP_011521876.1:p.Arg49Ter

Select item 144795211417.

rs1447952114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81868496 (GRCh38)
17:79826372 (GRCh37)
Canonical SPDI:: NC_000017.11:81868495:C:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81868496C>T, NC_000017.10:g.79826372C>T, NG_034210.1:g.7911G>A, NM_004309.6:c.*380G>A, NM_004309.5:c.*380G>A, NM_004309.4:c.*380G>A, NM_001185077.3:c.*380G>A, NM_001185077.2:c.*380G>A, NM_001185077.1:c.*380G>A, NM_001185078.3:c.*380G>A, NM_001185078.2:c.*380G>A, NM_001185078.1:c.*380G>A, NM_001301243.2:c.*380G>A, NM_001301243.1:c.*380G>A, NR_125441.2:n.985G>A, NR_125441.1:n.1054G>A, NM_001301241.2:c.591G>A, NM_001301241.1:c.591G>A, NM_001301242.2:c.883G>A, NM_001301242.1:c.883G>A, NM_001301240.2:c.591G>A, NM_001301240.1:c.591G>A, XM_011523574.2:c.*380G>A, XM_011523574.1:c.*380G>A, NP_001288171.1:p.Ala295Thr

Select item 144744253618.

rs1447442536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81869838 (GRCh38)
17:79827714 (GRCh37)
Canonical SPDI:: NC_000017.11:81869837:G:A,NC_000017.11:81869837:G:T
Gene:: ARHGDIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81869838G>A, NC_000017.11:g.81869838G>T, NC_000017.10:g.79827714G>A, NC_000017.10:g.79827714G>T, NG_034210.1:g.6569C>T, NG_034210.1:g.6569C>A, NM_004309.6:c.93C>T, NM_004309.6:c.93C>A, NM_004309.5:c.93C>T, NM_004309.5:c.93C>A, NM_004309.4:c.93C>T, NM_004309.4:c.93C>A, NM_001185077.3:c.93C>T, NM_001185077.3:c.93C>A, NM_001185077.2:c.93C>T, NM_001185077.2:c.93C>A, NM_001185077.1:c.93C>T, NM_001185077.1:c.93C>A, NM_001185078.3:c.93C>T, NM_001185078.3:c.93C>A, NM_001185078.2:c.93C>T, NM_001185078.2:c.93C>A, NM_001185078.1:c.93C>T, NM_001185078.1:c.93C>A, NM_001301243.2:c.93C>T, NM_001301243.2:c.93C>A, NM_001301243.1:c.93C>T, NM_001301243.1:c.93C>A, NR_125441.2:n.160C>T, NR_125441.2:n.160C>A, NR_125441.1:n.229C>T, NR_125441.1:n.229C>A, NM_001301241.2:c.93C>T, NM_001301241.2:c.93C>A, NM_001301241.1:c.93C>T, NM_001301241.1:c.93C>A, NM_001301242.2:c.93C>T, NM_001301242.2:c.93C>A, NM_001301242.1:c.93C>T, NM_001301242.1:c.93C>A, NM_001301240.2:c.93C>T, NM_001301240.2:c.93C>A, NM_001301240.1:c.93C>T, NM_001301240.1:c.93C>A, XM_011523574.2:c.93C>T, XM_011523574.2:c.93C>A, XM_011523574.1:c.93C>T, XM_011523574.1:c.93C>A

Select item 144106264719.

rs1441062647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81869221 (GRCh38)
17:79827097 (GRCh37)
Canonical SPDI:: NC_000017.11:81869220:C:G
Gene:: ARHGDIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81869221C>G, NC_000017.10:g.79827097C>G, NG_034210.1:g.7186G>C, NM_004309.6:c.367G>C, NM_004309.5:c.367G>C, NM_004309.4:c.367G>C, NM_001185077.3:c.367G>C, NM_001185077.2:c.367G>C, NM_001185077.1:c.367G>C, NM_001185078.3:c.367G>C, NM_001185078.2:c.367G>C, NM_001185078.1:c.367G>C, NM_001301243.2:c.502G>C, NM_001301243.1:c.502G>C, NR_125441.2:n.357G>C, NR_125441.1:n.426G>C, NM_001301241.2:c.367G>C, NM_001301241.1:c.367G>C, NM_001301242.2:c.367G>C, NM_001301242.1:c.367G>C, NM_001301240.2:c.367G>C, NM_001301240.1:c.367G>C, XM_011523574.2:c.502G>C, XM_011523574.1:c.502G>C, NP_004300.1:p.Val123Leu, NP_001172006.1:p.Val123Leu, NP_001172007.1:p.Val123Leu, NP_001288172.1:p.Val168Leu, NP_001288170.1:p.Val123Leu, NP_001288171.1:p.Val123Leu, NP_001288169.1:p.Val123Leu, XP_011521876.1:p.Val168Leu

Select item 144010004920.

rs1440100049 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATAGA>- [Show Flanks]
Chromosome:: 17:81868577 (GRCh38)
17:79826453 (GRCh37)
Canonical SPDI:: NC_000017.11:81868574:GAGATAGA:GA
Gene:: ARHGDIA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81868577_81868582del, NC_000017.10:g.79826453_79826458del, NG_034210.1:g.7827_7832del, NM_004309.6:c.*296_*301del, NM_004309.5:c.*296_*301del, NM_004309.4:c.*296_*301del, NM_001185077.3:c.*296_*301del, NM_001185077.2:c.*296_*301del, NM_001185077.1:c.*296_*301del, NM_001185078.3:c.*296_*301del, NM_001185078.2:c.*296_*301del, NM_001185078.1:c.*296_*301del, NM_001301243.2:c.*296_*301del, NM_001301243.1:c.*296_*301del, NR_125441.2:n.901_906del, NR_125441.1:n.970_975del, NM_001301241.2:c.507_512del, NM_001301241.1:c.507_512del, NM_001301242.2:c.799_804del, NM_001301242.1:c.799_804del, NM_001301240.2:c.507_512del, NM_001301240.1:c.507_512del, XM_011523574.2:c.*296_*301del, XM_011523574.1:c.*296_*301del, NP_001288170.1:p.Ile170_Ser171del, NP_001288171.1:p.Tyr267_Leu268del, NP_001288169.1:p.Ile170_Ser171del

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