SNP Links for Protein (Select 1137643817) - SNP

Links from Protein

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Select item 14899365051.

rs1489936505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:29638760 (GRCh38)
14:30107966 (GRCh37)
Canonical SPDI:: NC_000014.9:29638759:G:C
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29638760G>C, NC_000014.8:g.30107966G>C, NG_052879.1:g.293934C>G, NM_002742.3:c.841C>G, NM_002742.2:c.841C>G, NM_001330069.2:c.865C>G, NM_001330069.1:c.865C>G, NM_001348390.1:c.577C>G, XM_011536965.3:c.577C>G, XM_011536965.2:c.577C>G, XM_011536965.1:c.577C>G, XR_943493.3:n.1200C>G, XR_943493.2:n.1158C>G, XR_943493.1:n.980C>G, XM_047431589.1:c.613C>G, XM_047431590.1:c.370C>G, NP_002733.2:p.Pro281Ala, NP_001316998.1:p.Pro289Ala, NP_001335319.1:p.Pro193Ala, XP_011535267.1:p.Pro193Ala, XP_047287545.1:p.Pro205Ala, XP_047287546.1:p.Pro124Ala

Select item 14867730882.

rs1486773088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:29599066 (GRCh38)
14:30068272 (GRCh37)
Canonical SPDI:: NC_000014.9:29599065:T:C
Gene:: PRKD1 (Varview), LOC124903297 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.29599066T>C, NC_000014.8:g.30068272T>C, NG_052879.1:g.333628A>G, NM_002742.3:c.2127A>G, NM_002742.2:c.2127A>G, NM_001330069.2:c.2151A>G, NM_001330069.1:c.2151A>G, NM_001348390.1:c.1863A>G, XM_011536965.3:c.1863A>G, XM_011536965.2:c.1863A>G, XM_011536965.1:c.1863A>G, XR_943493.3:n.2486A>G, XR_943493.2:n.2444A>G, XR_943493.1:n.2266A>G, XM_047431589.1:c.1899A>G, XM_047431590.1:c.1656A>G

Select item 14865711023.

rs1486571102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:29597724 (GRCh38)
14:30066930 (GRCh37)
Canonical SPDI:: NC_000014.9:29597723:A:G
Gene:: PRKD1 (Varview), LOC124903297 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29597724A>G, NC_000014.8:g.30066930A>G, NG_052879.1:g.334970T>C, NM_002742.3:c.2201T>C, NM_002742.2:c.2201T>C, NM_001330069.2:c.2225T>C, NM_001330069.1:c.2225T>C, NM_001348390.1:c.1937T>C, XM_011536965.3:c.1937T>C, XM_011536965.2:c.1937T>C, XM_011536965.1:c.1937T>C, XR_943493.3:n.2560T>C, XR_943493.2:n.2518T>C, XR_943493.1:n.2340T>C, XM_047431589.1:c.1973T>C, XM_047431590.1:c.1730T>C, NP_002733.2:p.Ile734Thr, NP_001316998.1:p.Ile742Thr, NP_001335319.1:p.Ile646Thr, XP_011535267.1:p.Ile646Thr, XP_047287545.1:p.Ile658Thr, XP_047287546.1:p.Ile577Thr

Select item 14864258774.

rs1486425877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:29626519 (GRCh38)
14:30095725 (GRCh37)
Canonical SPDI:: NC_000014.9:29626518:A:C
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.29626519A>C, NC_000014.8:g.30095725A>C, NG_052879.1:g.306175T>G, NM_002742.3:c.1763T>G, NM_002742.2:c.1763T>G, NM_001330069.2:c.1787T>G, NM_001330069.1:c.1787T>G, NM_001348390.1:c.1499T>G, XM_011536965.3:c.1499T>G, XM_011536965.2:c.1499T>G, XM_011536965.1:c.1499T>G, XR_943493.3:n.2122T>G, XR_943493.2:n.2080T>G, XR_943493.1:n.1902T>G, XM_047431589.1:c.1535T>G, XM_047431590.1:c.1292T>G, NP_002733.2:p.Val588Gly, NP_001316998.1:p.Val596Gly, NP_001335319.1:p.Val500Gly, XP_011535267.1:p.Val500Gly, XP_047287545.1:p.Val512Gly, XP_047287546.1:p.Val431Gly

Select item 14855364575.

rs1485536457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 14:29638843 (GRCh38)
14:30108049 (GRCh37)
Canonical SPDI:: NC_000014.9:29638842:A:C,NC_000014.9:29638842:A:G,NC_000014.9:29638842:A:T
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.29638843A>C, NC_000014.9:g.29638843A>G, NC_000014.9:g.29638843A>T, NC_000014.8:g.30108049A>C, NC_000014.8:g.30108049A>G, NC_000014.8:g.30108049A>T, NG_052879.1:g.293851T>G, NG_052879.1:g.293851T>C, NG_052879.1:g.293851T>A, NM_002742.3:c.758T>G, NM_002742.3:c.758T>C, NM_002742.3:c.758T>A, NM_002742.2:c.758T>G, NM_002742.2:c.758T>C, NM_002742.2:c.758T>A, NM_001330069.2:c.782T>G, NM_001330069.2:c.782T>C, NM_001330069.2:c.782T>A, NM_001330069.1:c.782T>G, NM_001330069.1:c.782T>C, NM_001330069.1:c.782T>A, NM_001348390.1:c.494T>G, NM_001348390.1:c.494T>C, NM_001348390.1:c.494T>A, XM_011536965.3:c.494T>G, XM_011536965.3:c.494T>C, XM_011536965.3:c.494T>A, XM_011536965.2:c.494T>G, XM_011536965.2:c.494T>C, XM_011536965.2:c.494T>A, XM_011536965.1:c.494T>G, XM_011536965.1:c.494T>C, XM_011536965.1:c.494T>A, XR_943493.3:n.1117T>G, XR_943493.3:n.1117T>C, XR_943493.3:n.1117T>A, XR_943493.2:n.1075T>G, XR_943493.2:n.1075T>C, XR_943493.2:n.1075T>A, XR_943493.1:n.897T>G, XR_943493.1:n.897T>C, XR_943493.1:n.897T>A, XM_047431589.1:c.530T>G, XM_047431589.1:c.530T>C, XM_047431589.1:c.530T>A, XM_047431590.1:c.287T>G, XM_047431590.1:c.287T>C, XM_047431590.1:c.287T>A, NP_002733.2:p.Ile253Ser, NP_002733.2:p.Ile253Thr, NP_002733.2:p.Ile253Asn, NP_001316998.1:p.Ile261Ser, NP_001316998.1:p.Ile261Thr, NP_001316998.1:p.Ile261Asn, NP_001335319.1:p.Ile165Ser, NP_001335319.1:p.Ile165Thr, NP_001335319.1:p.Ile165Asn, XP_011535267.1:p.Ile165Ser, XP_011535267.1:p.Ile165Thr, XP_011535267.1:p.Ile165Asn, XP_047287545.1:p.Ile177Ser, XP_047287545.1:p.Ile177Thr, XP_047287545.1:p.Ile177Asn, XP_047287546.1:p.Ile96Ser, XP_047287546.1:p.Ile96Thr, XP_047287546.1:p.Ile96Asn

Select item 14840033156.

rs1484003315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:29632917 (GRCh38)
14:30102123 (GRCh37)
Canonical SPDI:: NC_000014.9:29632916:G:T
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29632917G>T, NC_000014.8:g.30102123G>T, NG_052879.1:g.299777C>A, NM_002742.3:c.1344C>A, NM_002742.2:c.1344C>A, NM_001330069.2:c.1368C>A, NM_001330069.1:c.1368C>A, NM_001348390.1:c.1080C>A, XM_011536965.3:c.1080C>A, XM_011536965.2:c.1080C>A, XM_011536965.1:c.1080C>A, XR_943493.3:n.1703C>A, XR_943493.2:n.1661C>A, XR_943493.1:n.1483C>A, XM_047431589.1:c.1116C>A, XM_047431590.1:c.873C>A, NP_002733.2:p.Ser448Arg, NP_001316998.1:p.Ser456Arg, NP_001335319.1:p.Ser360Arg, XP_011535267.1:p.Ser360Arg, XP_047287545.1:p.Ser372Arg, XP_047287546.1:p.Ser291Arg

Select item 14833074007.

rs1483307400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:29577343 (GRCh38)
14:30046549 (GRCh37)
Canonical SPDI:: NC_000014.9:29577342:C:T
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29577343C>T, NC_000014.8:g.30046549C>T, NG_052879.1:g.355351G>A, NM_002742.3:c.2634G>A, NM_002742.2:c.2634G>A, NM_001330069.2:c.2658G>A, NM_001330069.1:c.2658G>A, NM_001348390.1:c.2370G>A, XM_011536965.3:c.2370G>A, XM_011536965.2:c.2370G>A, XM_011536965.1:c.2370G>A, XM_047431589.1:c.2406G>A, XM_047431590.1:c.2163G>A

Select item 14824245858.

rs1482424585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:29663831 (GRCh38)
14:30133037 (GRCh37)
Canonical SPDI:: NC_000014.9:29663830:A:C
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.29663831A>C, NC_000014.8:g.30133037A>C, NG_052879.1:g.268863T>G, NM_002742.3:c.564T>G, NM_002742.2:c.564T>G, NM_001330069.2:c.564T>G, NM_001330069.1:c.564T>G, NM_001348390.1:c.276T>G, XM_011536965.3:c.276T>G, XM_011536965.2:c.276T>G, XM_011536965.1:c.276T>G, XR_943493.3:n.899T>G, XR_943493.2:n.857T>G, XR_943493.1:n.679T>G, XM_047431589.1:c.336T>G, XM_047431590.1:c.69T>G, NP_002733.2:p.Cys188Trp, NP_001316998.1:p.Cys188Trp, NP_001335319.1:p.Cys92Trp, XP_011535267.1:p.Cys92Trp, XP_047287545.1:p.Cys112Trp, XP_047287546.1:p.Cys23Trp

Select item 14799829339.

rs1479982933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:29663761 (GRCh38)
14:30132967 (GRCh37)
Canonical SPDI:: NC_000014.9:29663760:C:T
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.29663761C>T, NC_000014.8:g.30132967C>T, NG_052879.1:g.268933G>A, NM_002742.3:c.634G>A, NM_002742.2:c.634G>A, NM_001330069.2:c.634G>A, NM_001330069.1:c.634G>A, NM_001348390.1:c.346G>A, XM_011536965.3:c.346G>A, XM_011536965.2:c.346G>A, XM_011536965.1:c.346G>A, XR_943493.3:n.969G>A, XR_943493.2:n.927G>A, XR_943493.1:n.749G>A, XM_047431589.1:c.406G>A, XM_047431590.1:c.139G>A, NP_002733.2:p.Val212Ile, NP_001316998.1:p.Val212Ile, NP_001335319.1:p.Val116Ile, XP_011535267.1:p.Val116Ile, XP_047287545.1:p.Val136Ile, XP_047287546.1:p.Val47Ile

Select item 147938921310.

rs1479389213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:29577351 (GRCh38)
14:30046557 (GRCh37)
Canonical SPDI:: NC_000014.9:29577350:G:A
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.29577351G>A, NC_000014.8:g.30046557G>A, NG_052879.1:g.355343C>T, NM_002742.3:c.2626C>T, NM_002742.2:c.2626C>T, NM_001330069.2:c.2650C>T, NM_001330069.1:c.2650C>T, NM_001348390.1:c.2362C>T, XM_011536965.3:c.2362C>T, XM_011536965.2:c.2362C>T, XM_011536965.1:c.2362C>T, XM_047431589.1:c.2398C>T, XM_047431590.1:c.2155C>T, NP_002733.2:p.Gln876Ter, NP_001316998.1:p.Gln884Ter, NP_001335319.1:p.Gln788Ter, XP_011535267.1:p.Gln788Ter, XP_047287545.1:p.Gln800Ter, XP_047287546.1:p.Gln719Ter

Select item 147841197211.

rs1478411972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:29624177 (GRCh38)
14:30093383 (GRCh37)
Canonical SPDI:: NC_000014.9:29624176:A:G
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.29624177A>G, NC_000014.8:g.30093383A>G, NG_052879.1:g.308517T>C, NM_002742.3:c.1880T>C, NM_002742.2:c.1880T>C, NM_001330069.2:c.1904T>C, NM_001330069.1:c.1904T>C, NM_001348390.1:c.1616T>C, XM_011536965.3:c.1616T>C, XM_011536965.2:c.1616T>C, XM_011536965.1:c.1616T>C, XR_943493.3:n.2239T>C, XR_943493.2:n.2197T>C, XR_943493.1:n.2019T>C, XM_047431589.1:c.1652T>C, XM_047431590.1:c.1409T>C, NP_002733.2:p.Leu627Pro, NP_001316998.1:p.Leu635Pro, NP_001335319.1:p.Leu539Pro, XP_011535267.1:p.Leu539Pro, XP_047287545.1:p.Leu551Pro, XP_047287546.1:p.Leu470Pro

Select item 147818665712.

rs1478186657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:29636325 (GRCh38)
14:30105531 (GRCh37)
Canonical SPDI:: NC_000014.9:29636324:T:C
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000014.9:g.29636325T>C, NC_000014.8:g.30105531T>C, NG_052879.1:g.296369A>G, NM_002742.3:c.1155A>G, NM_002742.2:c.1155A>G, NM_001330069.2:c.1179A>G, NM_001330069.1:c.1179A>G, NM_001348390.1:c.891A>G, XM_011536965.3:c.891A>G, XM_011536965.2:c.891A>G, XM_011536965.1:c.891A>G, XR_943493.3:n.1514A>G, XR_943493.2:n.1472A>G, XR_943493.1:n.1294A>G, XM_047431589.1:c.927A>G, XM_047431590.1:c.684A>G

Select item 147813506713.

rs1478135067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:29656498 (GRCh38)
14:30125704 (GRCh37)
Canonical SPDI:: NC_000014.9:29656497:G:C
Gene:: PRKD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000058/8 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29656498G>C, NC_000014.8:g.30125704G>C, NG_052879.1:g.276196C>G, NM_001330069.2:c.698C>G, NM_001330069.1:c.698C>G, NM_001348390.1:c.410C>G, XM_011536965.3:c.410C>G, XM_011536965.2:c.410C>G, XM_011536965.1:c.410C>G, XR_943493.3:n.1033C>G, XR_943493.2:n.991C>G, XR_943493.1:n.813C>G, XM_047431590.1:c.203C>G, NP_001316998.1:p.Ser233Cys, NP_001335319.1:p.Ser137Cys, XP_011535267.1:p.Ser137Cys, XP_047287546.1:p.Ser68Cys

Select item 147756771814.

rs1477567718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:29599049 (GRCh38)
14:30068255 (GRCh37)
Canonical SPDI:: NC_000014.9:29599048:G:C
Gene:: PRKD1 (Varview), LOC124903297 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.29599049G>C, NC_000014.8:g.30068255G>C, NG_052879.1:g.333645C>G, NM_002742.3:c.2144C>G, NM_002742.2:c.2144C>G, NM_001330069.2:c.2168C>G, NM_001330069.1:c.2168C>G, NM_001348390.1:c.1880C>G, XM_011536965.3:c.1880C>G, XM_011536965.2:c.1880C>G, XM_011536965.1:c.1880C>G, XR_943493.3:n.2503C>G, XR_943493.2:n.2461C>G, XR_943493.1:n.2283C>G, XM_047431589.1:c.1916C>G, XM_047431590.1:c.1673C>G, NP_002733.2:p.Ala715Gly, NP_001316998.1:p.Ala723Gly, NP_001335319.1:p.Ala627Gly, XP_011535267.1:p.Ala627Gly, XP_047287545.1:p.Ala639Gly, XP_047287546.1:p.Ala558Gly

Select item 147743650015.

rs1477436500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:29597720 (GRCh38)
14:30066926 (GRCh37)
Canonical SPDI:: NC_000014.9:29597719:T:C
Gene:: PRKD1 (Varview), LOC124903297 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000014.9:g.29597720T>C, NC_000014.8:g.30066926T>C, NG_052879.1:g.334974A>G, NM_002742.3:c.2205A>G, NM_002742.2:c.2205A>G, NM_001330069.2:c.2229A>G, NM_001330069.1:c.2229A>G, NM_001348390.1:c.1941A>G, XM_011536965.3:c.1941A>G, XM_011536965.2:c.1941A>G, XM_011536965.1:c.1941A>G, XR_943493.3:n.2564A>G, XR_943493.2:n.2522A>G, XR_943493.1:n.2344A>G, XM_047431589.1:c.1977A>G, XM_047431590.1:c.1734A>G

Select item 147662248116.

rs1476622481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:29631005 (GRCh38)
14:30100211 (GRCh37)
Canonical SPDI:: NC_000014.9:29631004:T:C
Gene:: PRKD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.29631005T>C, NC_000014.8:g.30100211T>C, NG_052879.1:g.301689A>G, NM_002742.3:c.1409A>G, NM_002742.2:c.1409A>G, NM_001330069.2:c.1433A>G, NM_001330069.1:c.1433A>G, NM_001348390.1:c.1145A>G, XM_011536965.3:c.1145A>G, XM_011536965.2:c.1145A>G, XM_011536965.1:c.1145A>G, XR_943493.3:n.1768A>G, XR_943493.2:n.1726A>G, XR_943493.1:n.1548A>G, XM_047431589.1:c.1181A>G, XM_047431590.1:c.938A>G, NP_002733.2:p.Glu470Gly, NP_001316998.1:p.Glu478Gly, NP_001335319.1:p.Glu382Gly, XP_011535267.1:p.Glu382Gly, XP_047287545.1:p.Glu394Gly, XP_047287546.1:p.Glu313Gly

Select item 147496251617.

rs1474962516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:29638886 (GRCh38)
14:30108092 (GRCh37)
Canonical SPDI:: NC_000014.9:29638885:A:C
Gene:: PRKD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.29638886A>C, NC_000014.8:g.30108092A>C, NG_052879.1:g.293808T>G, NM_002742.3:c.715T>G, NM_002742.2:c.715T>G, NM_001330069.2:c.739T>G, NM_001330069.1:c.739T>G, NM_001348390.1:c.451T>G, XM_011536965.3:c.451T>G, XM_011536965.2:c.451T>G, XM_011536965.1:c.451T>G, XR_943493.3:n.1074T>G, XR_943493.2:n.1032T>G, XR_943493.1:n.854T>G, XM_047431589.1:c.487T>G, XM_047431590.1:c.244T>G, NP_002733.2:p.Ser239Ala, NP_001316998.1:p.Ser247Ala, NP_001335319.1:p.Ser151Ala, XP_011535267.1:p.Ser151Ala, XP_047287545.1:p.Ser163Ala, XP_047287546.1:p.Ser82Ala

Select item 147356341818.

rs1473563418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:29577324 (GRCh38)
14:30046530 (GRCh37)
Canonical SPDI:: NC_000014.9:29577323:T:C
Gene:: PRKD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000014.9:g.29577324T>C, NC_000014.8:g.30046530T>C, NG_052879.1:g.355370A>G, NM_002742.3:c.2653A>G, NM_002742.2:c.2653A>G, NM_001330069.2:c.2677A>G, NM_001330069.1:c.2677A>G, NM_001348390.1:c.2389A>G, XM_011536965.3:c.2389A>G, XM_011536965.2:c.2389A>G, XM_011536965.1:c.2389A>G, XM_047431589.1:c.2425A>G, XM_047431590.1:c.2182A>G, NP_002733.2:p.Ile885Val, NP_001316998.1:p.Ile893Val, NP_001335319.1:p.Ile797Val, XP_011535267.1:p.Ile797Val, XP_047287545.1:p.Ile809Val, XP_047287546.1:p.Ile728Val

Select item 147279135419.

rs1472791354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:29577285 (GRCh38)
14:30046491 (GRCh37)
Canonical SPDI:: NC_000014.9:29577284:C:T
Gene:: PRKD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.29577285C>T, NC_000014.8:g.30046491C>T, NG_052879.1:g.355409G>A, NM_002742.3:c.2692G>A, NM_002742.2:c.2692G>A, NM_001330069.2:c.2716G>A, NM_001330069.1:c.2716G>A, NM_001348390.1:c.2428G>A, XM_011536965.3:c.2428G>A, XM_011536965.2:c.2428G>A, XM_011536965.1:c.2428G>A, XM_047431589.1:c.2464G>A, XM_047431590.1:c.2221G>A, NP_002733.2:p.Glu898Lys, NP_001316998.1:p.Glu906Lys, NP_001335319.1:p.Glu810Lys, XP_011535267.1:p.Glu810Lys, XP_047287545.1:p.Glu822Lys, XP_047287546.1:p.Glu741Lys

Select item 147273330120.

rs1472733301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:29630828 (GRCh38)
14:30100034 (GRCh37)
Canonical SPDI:: NC_000014.9:29630827:G:T
Gene:: PRKD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.29630828G>T, NC_000014.8:g.30100034G>T, NG_052879.1:g.301866C>A, NM_002742.3:c.1586C>A, NM_002742.2:c.1586C>A, NM_001330069.2:c.1610C>A, NM_001330069.1:c.1610C>A, NM_001348390.1:c.1322C>A, XM_011536965.3:c.1322C>A, XM_011536965.2:c.1322C>A, XM_011536965.1:c.1322C>A, XR_943493.3:n.1945C>A, XR_943493.2:n.1903C>A, XR_943493.1:n.1725C>A, XM_047431589.1:c.1358C>A, XM_047431590.1:c.1115C>A, NP_002733.2:p.Ala529Asp, NP_001316998.1:p.Ala537Asp, NP_001335319.1:p.Ala441Asp, XP_011535267.1:p.Ala441Asp, XP_047287545.1:p.Ala453Asp, XP_047287546.1:p.Ala372Asp

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