SNP Links for Protein (Select 315138990) - SNP

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Links from Protein

Items: 1 to 20 of 856

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Select item 14892775501.

rs1489277550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:30449620 (GRCh38)
17:28776638 (GRCh37)
Canonical SPDI:: NC_000017.11:30449619:G:C
Gene:: CPD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30449620G>C, NC_000017.10:g.28776638G>C, NM_001304.5:c.2941G>C, NM_001304.4:c.2941G>C, NM_001199775.1:c.2200G>C, NP_001295.2:p.Glu981Gln, NP_001186704.1:p.Glu734Gln

Select item 14873086752.

rs1487308675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:30456464 (GRCh38)
17:28783482 (GRCh37)
Canonical SPDI:: NC_000017.11:30456463:G:C,NC_000017.11:30456463:G:T
Gene:: CPD (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000068/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30456464G>C, NC_000017.11:g.30456464G>T, NC_000017.10:g.28783482G>C, NC_000017.10:g.28783482G>T, NM_001304.5:c.3436G>C, NM_001304.5:c.3436G>T, NM_001304.4:c.3436G>C, NM_001304.4:c.3436G>T, NM_001199775.1:c.2695G>C, NM_001199775.1:c.2695G>T, NP_001295.2:p.Glu1146Gln, NP_001295.2:p.Glu1146Ter, NP_001186704.1:p.Glu899Gln, NP_001186704.1:p.Glu899Ter

Select item 14872071843.

rs1487207184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30464604 (GRCh38)
17:28791622 (GRCh37)
Canonical SPDI:: NC_000017.11:30464603:A:G
Gene:: CPD (Varview)
Functional Consequence:: synonymous_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_000017.11:g.30464604A>G, NC_000017.10:g.28791622A>G, NM_001304.5:c.3933A>G, NM_001304.4:c.3933A>G, NM_001199775.1:c.3192A>G

Select item 14867528764.

rs1486752876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30456475 (GRCh38)
17:28783493 (GRCh37)
Canonical SPDI:: NC_000017.11:30456474:A:G
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30456475A>G, NC_000017.10:g.28783493A>G, NM_001304.5:c.3447A>G, NM_001304.4:c.3447A>G, NM_001199775.1:c.2706A>G

Select item 14853991045.

rs1485399104 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:30451780 (GRCh38)
17:28778798 (GRCh37)
Canonical SPDI:: NC_000017.11:30451779:AAA:AA
Gene:: CPD (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30451782del, NC_000017.10:g.28778800del, NM_001304.5:c.3141del, NM_001304.4:c.3141del, NM_001199775.1:c.2400del, NP_001295.2:p.Asp1048fs, NP_001186704.1:p.Asp801fs

Select item 14851605086.

rs1485160508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:30442308 (GRCh38)
17:28769326 (GRCh37)
Canonical SPDI:: NC_000017.11:30442307:G:T
Gene:: CPD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30442308G>T, NC_000017.10:g.28769326G>T, NM_001304.5:c.2231G>T, NM_001304.4:c.2231G>T, NM_001199775.1:c.1490G>T, NP_001295.2:p.Gly744Val, NP_001186704.1:p.Gly497Val

Select item 14844481687.

rs1484448168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:30443804 (GRCh38)
17:28770822 (GRCh37)
Canonical SPDI:: NC_000017.11:30443803:T:A
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.30443804T>A, NC_000017.10:g.28770822T>A, NM_001304.5:c.2376T>A, NM_001304.4:c.2376T>A, NM_001199775.1:c.1635T>A

Select item 14838364928.

rs1483836492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30421669 (GRCh38)
17:28748687 (GRCh37)
Canonical SPDI:: NC_000017.11:30421668:C:T
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30421669C>T, NC_000017.10:g.28748687C>T, NM_001304.5:c.1143C>T, NM_001304.4:c.1143C>T, NM_001199775.1:c.402C>T

Select item 14827733599.

rs1482773359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:30421767 (GRCh38)
17:28748785 (GRCh37)
Canonical SPDI:: NC_000017.11:30421766:G:A,NC_000017.11:30421766:G:C
Gene:: CPD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30421767G>A, NC_000017.11:g.30421767G>C, NC_000017.10:g.28748785G>A, NC_000017.10:g.28748785G>C, NM_001304.5:c.1241G>A, NM_001304.5:c.1241G>C, NM_001304.4:c.1241G>A, NM_001304.4:c.1241G>C, NM_001199775.1:c.500G>A, NM_001199775.1:c.500G>C, NP_001295.2:p.Gly414Asp, NP_001295.2:p.Gly414Ala, NP_001186704.1:p.Gly167Asp, NP_001186704.1:p.Gly167Ala

Select item 148217227210.

rs1482172272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:30445753 (GRCh38)
17:28772771 (GRCh37)
Canonical SPDI:: NC_000017.11:30445752:C:G
Gene:: CPD (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)
HGVS:: NC_000017.11:g.30445753C>G, NC_000017.10:g.28772771C>G, NM_001304.5:c.2606C>G, NM_001304.4:c.2606C>G, NM_001199775.1:c.1865C>G, NP_001295.2:p.Thr869Arg, NP_001186704.1:p.Thr622Arg

Select item 148099122611.

rs1480991226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30461222 (GRCh38)
17:28788240 (GRCh37)
Canonical SPDI:: NC_000017.11:30461221:T:C
Gene:: CPD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30461222T>C, NC_000017.10:g.28788240T>C, NM_001304.5:c.3541T>C, NM_001304.4:c.3541T>C, NM_001199775.1:c.2800T>C, NP_001295.2:p.Tyr1181His, NP_001186704.1:p.Tyr934His

Select item 147943466612.

rs1479434666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:30445841 (GRCh38)
17:28772859 (GRCh37)
Canonical SPDI:: NC_000017.11:30445840:T:C,NC_000017.11:30445840:T:G
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30445841T>C, NC_000017.11:g.30445841T>G, NC_000017.10:g.28772859T>C, NC_000017.10:g.28772859T>G, NM_001304.5:c.2694T>C, NM_001304.5:c.2694T>G, NM_001304.4:c.2694T>C, NM_001304.4:c.2694T>G, NM_001199775.1:c.1953T>C, NM_001199775.1:c.1953T>G

Select item 147715196513.

rs1477151965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30421776 (GRCh38)
17:28748794 (GRCh37)
Canonical SPDI:: NC_000017.11:30421775:G:A
Gene:: CPD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30421776G>A, NC_000017.10:g.28748794G>A, NM_001304.5:c.1250G>A, NM_001304.4:c.1250G>A, NM_001199775.1:c.509G>A, NP_001295.2:p.Gly417Asp, NP_001186704.1:p.Gly170Asp

Select item 147695523214.

rs1476955232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:30456311 (GRCh38)
17:28783329 (GRCh37)
Canonical SPDI:: NC_000017.11:30456310:A:T
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30456311A>T, NC_000017.10:g.28783329A>T, NM_001304.5:c.3393A>T, NM_001304.4:c.3393A>T, NM_001199775.1:c.2652A>T

Select item 147677988115.

rs1476779881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:30422818 (GRCh38)
17:28749836 (GRCh37)
Canonical SPDI:: NC_000017.11:30422817:T:A,NC_000017.11:30422817:T:C
Gene:: CPD (Varview)
Functional Consequence:: synonymous_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.30422818T>A, NC_000017.11:g.30422818T>C, NC_000017.10:g.28749836T>A, NC_000017.10:g.28749836T>C, NM_001304.5:c.1452T>A, NM_001304.5:c.1452T>C, NM_001304.4:c.1452T>A, NM_001304.4:c.1452T>C, NM_001199775.1:c.711T>A, NM_001199775.1:c.711T>C, NP_001295.2:p.Asn484Lys, NP_001186704.1:p.Asn237Lys

Select item 147644461016.

rs1476444610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30462389 (GRCh38)
17:28789407 (GRCh37)
Canonical SPDI:: NC_000017.11:30462388:C:T
Gene:: CPD (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)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30462389C>T, NC_000017.10:g.28789407C>T, NM_001304.5:c.3836C>T, NM_001304.4:c.3836C>T, NM_001199775.1:c.3095C>T, NP_001295.2:p.Ala1279Val, NP_001186704.1:p.Ala1032Val

Select item 147568999717.

rs1475689997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30423636 (GRCh38)
17:28750654 (GRCh37)
Canonical SPDI:: NC_000017.11:30423635:T:C
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30423636T>C, NC_000017.10:g.28750654T>C, NM_001304.5:c.1788T>C, NM_001304.4:c.1788T>C, NM_001199775.1:c.1047T>C

Select item 147564192418.

rs1475641924 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAGG [Show Flanks]
Chromosome:: 17:30442430 (GRCh38)
17:28769449 (GRCh37)
Canonical SPDI:: NC_000017.11:30442430::AAAAGG
Gene:: CPD (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
HGVS:: NC_000017.11:g.30442430_30442431insAAAAGG, NC_000017.10:g.28769448_28769449insAAAAGG, NM_001304.5:c.2353_2354insAAAAGG, NM_001304.4:c.2353_2354insAAAAGG, NM_001199775.1:c.1612_1613insAAAAGG, NP_001295.2:p.Leu785delinsGlnLysVal, NP_001186704.1:p.Leu538delinsGlnLysVal

Select item 147395363819.

rs1473953638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30439070 (GRCh38)
17:28766088 (GRCh37)
Canonical SPDI:: NC_000017.11:30439069:T:C
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.30439070T>C, NC_000017.10:g.28766088T>C, NM_001304.5:c.2223T>C, NM_001304.4:c.2223T>C, NM_001199775.1:c.1482T>C

Select item 147242484520.

rs1472424845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30421693 (GRCh38)
17:28748711 (GRCh37)
Canonical SPDI:: NC_000017.11:30421692:A:G
Gene:: CPD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30421693A>G, NC_000017.10:g.28748711A>G, NM_001304.5:c.1167A>G, NM_001304.4:c.1167A>G, NM_001199775.1:c.426A>G

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