SNP Links for Protein (Select 40255197) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 455

<< First< Prev

Page of 23

Next >Last >>

Select item 14895351321.

rs1489535132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180118787 (GRCh38)
5:179545787 (GRCh37)
Canonical SPDI:: NC_000005.10:180118786:C:T
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.180118787C>T, NC_000005.9:g.179545787C>T, NM_175062.4:c.987G>A, NM_175062.3:c.987G>A, NM_001031799.1:c.534G>A

Select item 14890633172.

rs1489063317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180114512 (GRCh38)
5:179541512 (GRCh37)
Canonical SPDI:: NC_000005.10:180114511:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180114512G>A, NC_000005.9:g.179541512G>A, NM_175062.4:c.1113C>T, NM_175062.3:c.1113C>T, NM_001031799.1:c.698C>T

Select item 14885687283.

rs1488568728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:180136457 (GRCh38)
5:179563457 (GRCh37)
Canonical SPDI:: NC_000005.10:180136456:G:T
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.180136457G>T, NC_000005.9:g.179563457G>T, NM_175062.4:c.359C>A, NM_175062.3:c.359C>A, NM_001031799.1:c.-95C>A, NP_778232.2:p.Thr120Asn

Select item 14884683754.

rs1488468375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180119446 (GRCh38)
5:179546446 (GRCh37)
Canonical SPDI:: NC_000005.10:180119445:T:C
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180119446T>C, NC_000005.9:g.179546446T>C, NM_175062.4:c.807A>G, NM_175062.3:c.807A>G, NM_001031799.1:c.354A>G

Select item 14854655505.

rs1485465550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180118642 (GRCh38)
5:179545642 (GRCh37)
Canonical SPDI:: NC_000005.10:180118641:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180118642G>A, NC_000005.9:g.179545642G>A, NM_175062.4:c.1050C>T, NM_175062.3:c.1050C>T, NM_001031799.1:c.597C>T

Select item 14852710686.

rs1485271068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180136444 (GRCh38)
5:179563444 (GRCh37)
Canonical SPDI:: NC_000005.10:180136443:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180136444G>A, NC_000005.9:g.179563444G>A, NM_175062.4:c.372C>T, NM_175062.3:c.372C>T, NM_001031799.1:c.-82C>T

Select item 14851522507.

rs1485152250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180119386 (GRCh38)
5:179546386 (GRCh37)
Canonical SPDI:: NC_000005.10:180119385:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180119386G>A, NC_000005.9:g.179546386G>A, NM_175062.4:c.867C>T, NM_175062.3:c.867C>T, NM_001031799.1:c.414C>T

Select item 14845480598.

rs1484548059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:180137703 (GRCh38)
5:179564703 (GRCh37)
Canonical SPDI:: NC_000005.10:180137702:T:C,NC_000005.10:180137702:T:G
Gene:: RASGEF1C (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)
HGVS:: NC_000005.10:g.180137703T>C, NC_000005.10:g.180137703T>G, NC_000005.9:g.179564703T>C, NC_000005.9:g.179564703T>G, NM_175062.4:c.187A>G, NM_175062.4:c.187A>C, NM_175062.3:c.187A>G, NM_175062.3:c.187A>C, NP_778232.2:p.Ile63Val, NP_778232.2:p.Ile63Leu

Select item 14844876219.

rs1484487621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180127656 (GRCh38)
5:179554656 (GRCh37)
Canonical SPDI:: NC_000005.10:180127655:C:T
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180127656C>T, NC_000005.9:g.179554656C>T, NM_175062.4:c.667G>A, NM_175062.3:c.667G>A, NM_001031799.1:c.214G>A, NP_778232.2:p.Glu223Lys

Select item 148295512810.

rs1482955128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180137994 (GRCh38)
5:179564994 (GRCh37)
Canonical SPDI:: NC_000005.10:180137993:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180137994G>A, NC_000005.9:g.179564994G>A, NM_175062.4:c.59C>T, NM_175062.3:c.59C>T, NP_778232.2:p.Pro20Leu

Select item 148217400211.

rs1482174002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:180114505 (GRCh38)
5:179541505 (GRCh37)
Canonical SPDI:: NC_000005.10:180114504:T:C,NC_000005.10:180114504:T:G
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180114505T>C, NC_000005.10:g.180114505T>G, NC_000005.9:g.179541505T>C, NC_000005.9:g.179541505T>G, NM_175062.4:c.1120A>G, NM_175062.4:c.1120A>C, NM_175062.3:c.1120A>G, NM_175062.3:c.1120A>C, NM_001031799.1:c.705A>G, NM_001031799.1:c.705A>C, NP_778232.2:p.Ile374Val, NP_778232.2:p.Ile374Leu

Select item 147551743512.

rs1475517435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:180121145 (GRCh38)
5:179548145 (GRCh37)
Canonical SPDI:: NC_000005.10:180121144:C:G
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180121145C>G, NC_000005.9:g.179548145C>G, NM_175062.4:c.719G>C, NM_175062.3:c.719G>C, NM_001031799.1:c.266G>C, NP_778232.2:p.Cys240Ser

Select item 146993714713.

rs1469937147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180127669 (GRCh38)
5:179554669 (GRCh37)
Canonical SPDI:: NC_000005.10:180127668:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180127669G>A, NC_000005.9:g.179554669G>A, NM_175062.4:c.654C>T, NM_175062.3:c.654C>T, NM_001031799.1:c.201C>T

Select item 146739707614.

rs1467397076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:180118635 (GRCh38)
5:179545635 (GRCh37)
Canonical SPDI:: NC_000005.10:180118634:G:C
Gene:: RASGEF1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180118635G>C, NC_000005.9:g.179545635G>C, NM_175062.4:c.1057C>G, NM_175062.3:c.1057C>G, NM_001031799.1:c.604C>G, NP_778232.2:p.Leu353Val

Select item 145756111215.

rs1457561112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180136411 (GRCh38)
5:179563411 (GRCh37)
Canonical SPDI:: NC_000005.10:180136410:C:T
Gene:: RASGEF1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180136411C>T, NC_000005.9:g.179563411C>T, NM_175062.4:c.405G>A, NM_175062.3:c.405G>A, NM_001031799.1:c.-49G>A

Select item 145737431216.

rs1457374312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180118853 (GRCh38)
5:179545853 (GRCh37)
Canonical SPDI:: NC_000005.10:180118852:C:T
Gene:: RASGEF1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180118853C>T, NC_000005.9:g.179545853C>T, NM_175062.4:c.921G>A, NM_175062.3:c.921G>A, NM_001031799.1:c.468G>A, NP_778232.2:p.Met307Ile

Select item 145568968417.

rs1455689684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:180137878 (GRCh38)
5:179564878 (GRCh37)
Canonical SPDI:: NC_000005.10:180137877:C:G,NC_000005.10:180137877:C:T
Gene:: RASGEF1C (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)
HGVS:: NC_000005.10:g.180137878C>G, NC_000005.10:g.180137878C>T, NC_000005.9:g.179564878C>G, NC_000005.9:g.179564878C>T, NM_175062.4:c.175G>C, NM_175062.4:c.175G>A, NM_175062.3:c.175G>C, NM_175062.3:c.175G>A, NP_778232.2:p.Glu59Gln, NP_778232.2:p.Glu59Lys

Select item 145343637918.

rs1453436379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180111482 (GRCh38)
5:179538482 (GRCh37)
Canonical SPDI:: NC_000005.10:180111481:G:A
Gene:: RASGEF1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180111482G>A, NC_000005.9:g.179538482G>A, NM_175062.4:c.1278C>T, NM_175062.3:c.1278C>T, NM_001031799.1:c.*146C>T

Select item 145175827519.

rs1451758275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:180118659 (GRCh38)
5:179545659 (GRCh37)
Canonical SPDI:: NC_000005.10:180118658:G:C
Gene:: RASGEF1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.180118659G>C, NC_000005.9:g.179545659G>C, NM_175062.4:c.1033C>G, NM_175062.3:c.1033C>G, NM_001031799.1:c.580C>G, NP_778232.2:p.Leu345Val

Select item 145174795820.

rs1451747958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180118678 (GRCh38)
5:179545678 (GRCh37)
Canonical SPDI:: NC_000005.10:180118677:G:A
Gene:: RASGEF1C (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180118678G>A, NC_000005.9:g.179545678G>A, NM_175062.4:c.1014C>T, NM_175062.3:c.1014C>T, NM_001031799.1:c.561C>T