SNP Links for Protein (Select 5031689) - SNP

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Links from Protein

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Select item 14900594201.

rs1490059420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 2:37275801 (GRCh38)
2:37502944 (GRCh37)
Canonical SPDI:: NC_000002.12:37275797:AATAAT:AAT
Gene:: PRKD3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37275798AAT[1], NC_000002.11:g.37502941AAT[1], NM_005813.6:c.1338ATT[1], NM_005813.5:c.1338ATT[1], NM_005813.4:c.1338ATT[1], NM_005813.3:c.1338ATT[1], XM_005264237.5:c.1338ATT[1], XM_005264237.4:c.1338ATT[1], XM_005264237.3:c.1338ATT[1], XM_005264237.2:c.1338ATT[1], XM_005264237.1:c.1338ATT[1], XM_005264238.4:c.1026ATT[1], XM_005264238.3:c.1026ATT[1], XM_005264238.2:c.1026ATT[1], XM_005264238.1:c.1026ATT[1], XM_017003744.3:c.561ATT[1], XM_017003744.2:c.561ATT[1], XM_017003744.1:c.561ATT[1], XM_047443852.1:c.1338ATT[1], XM_047443853.1:c.1338ATT[1], XM_047443854.1:c.819ATT[1], XM_047443855.1:c.561ATT[1], XM_047443856.1:c.1338ATT[1], NP_005804.1:p.Leu447del, XP_005264294.1:p.Leu447del, XP_005264295.1:p.Leu343del, XP_016859233.1:p.Leu188del, XP_047299808.1:p.Leu447del, XP_047299809.1:p.Leu447del, XP_047299810.1:p.Leu274del, XP_047299811.1:p.Leu188del, XP_047299812.1:p.Leu447del

Select item 14897453752.

rs1489745375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:37279862 (GRCh38)
2:37507005 (GRCh37)
Canonical SPDI:: NC_000002.12:37279861:A:C
Gene:: PRKD3 (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_000002.12:g.37279862A>C, NC_000002.11:g.37507005A>C, NM_005813.6:c.1056T>G, NM_005813.5:c.1056T>G, NM_005813.4:c.1056T>G, NM_005813.3:c.1056T>G, XM_005264237.5:c.1056T>G, XM_005264237.4:c.1056T>G, XM_005264237.3:c.1056T>G, XM_005264237.2:c.1056T>G, XM_005264237.1:c.1056T>G, XM_005264238.4:c.744T>G, XM_005264238.3:c.744T>G, XM_005264238.2:c.744T>G, XM_005264238.1:c.744T>G, XM_017003744.3:c.279T>G, XM_017003744.2:c.279T>G, XM_017003744.1:c.279T>G, XM_047443852.1:c.1056T>G, XM_047443853.1:c.1056T>G, XM_047443854.1:c.537T>G, XM_047443855.1:c.279T>G, XM_047443856.1:c.1056T>G, NP_005804.1:p.Asp352Glu, XP_005264294.1:p.Asp352Glu, XP_005264295.1:p.Asp248Glu, XP_016859233.1:p.Asp93Glu, XP_047299808.1:p.Asp352Glu, XP_047299809.1:p.Asp352Glu, XP_047299810.1:p.Asp179Glu, XP_047299811.1:p.Asp93Glu, XP_047299812.1:p.Asp352Glu

Select item 14890598323.

rs1489059832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37290954 (GRCh38)
2:37518097 (GRCh37)
Canonical SPDI:: NC_000002.12:37290953:T:C
Gene:: PRKD3 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37290954T>C, NC_000002.11:g.37518097T>C, NM_005813.6:c.473A>G, NM_005813.5:c.473A>G, NM_005813.4:c.473A>G, NM_005813.3:c.473A>G, XM_005264237.5:c.473A>G, XM_005264237.4:c.473A>G, XM_005264237.3:c.473A>G, XM_005264237.2:c.473A>G, XM_005264237.1:c.473A>G, XM_005264238.4:c.161A>G, XM_005264238.3:c.161A>G, XM_005264238.2:c.161A>G, XM_005264238.1:c.161A>G, XM_047443852.1:c.473A>G, XM_047443853.1:c.473A>G, XM_047443854.1:c.-47A>G, XM_047443855.1:c.-147A>G, XM_047443856.1:c.473A>G, NP_005804.1:p.Tyr158Cys, XP_005264294.1:p.Tyr158Cys, XP_005264295.1:p.Tyr54Cys, XP_047299808.1:p.Tyr158Cys, XP_047299809.1:p.Tyr158Cys, XP_047299812.1:p.Tyr158Cys

Select item 14888491034.

rs1488849103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:37274521 (GRCh38)
2:37501664 (GRCh37)
Canonical SPDI:: NC_000002.12:37274520:A:T
Gene:: PRKD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37274521A>T, NC_000002.11:g.37501664A>T, NM_005813.6:c.1551T>A, NM_005813.5:c.1551T>A, NM_005813.4:c.1551T>A, NM_005813.3:c.1551T>A, XM_005264237.5:c.1551T>A, XM_005264237.4:c.1551T>A, XM_005264237.3:c.1551T>A, XM_005264237.2:c.1551T>A, XM_005264237.1:c.1551T>A, XM_005264238.4:c.1239T>A, XM_005264238.3:c.1239T>A, XM_005264238.2:c.1239T>A, XM_005264238.1:c.1239T>A, XM_017003744.3:c.774T>A, XM_017003744.2:c.774T>A, XM_017003744.1:c.774T>A, XM_047443852.1:c.1551T>A, XM_047443853.1:c.1551T>A, XM_047443854.1:c.1032T>A, XM_047443855.1:c.774T>A, XM_047443856.1:c.1551T>A

Select item 14852719685.

rs1485271968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37316395 (GRCh38)
2:37543538 (GRCh37)
Canonical SPDI:: NC_000002.12:37316394:T:C
Gene:: PRKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37316395T>C, NC_000002.11:g.37543538T>C, NM_005813.6:c.130A>G, NM_005813.5:c.130A>G, NM_005813.4:c.130A>G, NM_005813.3:c.130A>G, XM_005264237.5:c.130A>G, XM_005264237.4:c.130A>G, XM_005264237.3:c.130A>G, XM_005264237.2:c.130A>G, XM_005264237.1:c.130A>G, XM_047443852.1:c.130A>G, XM_047443853.1:c.130A>G, XM_047443856.1:c.130A>G, NP_005804.1:p.Ser44Gly, XP_005264294.1:p.Ser44Gly, XP_047299808.1:p.Ser44Gly, XP_047299809.1:p.Ser44Gly, XP_047299812.1:p.Ser44Gly

Select item 14841870826.

rs1484187082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:37274590 (GRCh38)
2:37501733 (GRCh37)
Canonical SPDI:: NC_000002.12:37274589:T:A,NC_000002.12:37274589:T:C
Gene:: PRKD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.37274590T>A, NC_000002.12:g.37274590T>C, NC_000002.11:g.37501733T>A, NC_000002.11:g.37501733T>C, NM_005813.6:c.1482A>T, NM_005813.6:c.1482A>G, NM_005813.5:c.1482A>T, NM_005813.5:c.1482A>G, NM_005813.4:c.1482A>T, NM_005813.4:c.1482A>G, NM_005813.3:c.1482A>T, NM_005813.3:c.1482A>G, XM_005264237.5:c.1482A>T, XM_005264237.5:c.1482A>G, XM_005264237.4:c.1482A>T, XM_005264237.4:c.1482A>G, XM_005264237.3:c.1482A>T, XM_005264237.3:c.1482A>G, XM_005264237.2:c.1482A>T, XM_005264237.2:c.1482A>G, XM_005264237.1:c.1482A>T, XM_005264237.1:c.1482A>G, XM_005264238.4:c.1170A>T, XM_005264238.4:c.1170A>G, XM_005264238.3:c.1170A>T, XM_005264238.3:c.1170A>G, XM_005264238.2:c.1170A>T, XM_005264238.2:c.1170A>G, XM_005264238.1:c.1170A>T, XM_005264238.1:c.1170A>G, XM_017003744.3:c.705A>T, XM_017003744.3:c.705A>G, XM_017003744.2:c.705A>T, XM_017003744.2:c.705A>G, XM_017003744.1:c.705A>T, XM_017003744.1:c.705A>G, XM_047443852.1:c.1482A>T, XM_047443852.1:c.1482A>G, XM_047443853.1:c.1482A>T, XM_047443853.1:c.1482A>G, XM_047443854.1:c.963A>T, XM_047443854.1:c.963A>G, XM_047443855.1:c.705A>T, XM_047443855.1:c.705A>G, XM_047443856.1:c.1482A>T, XM_047443856.1:c.1482A>G

Select item 14824843007.

rs1482484300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37274595 (GRCh38)
2:37501738 (GRCh37)
Canonical SPDI:: NC_000002.12:37274594:T:C
Gene:: PRKD3 (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)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37274595T>C, NC_000002.11:g.37501738T>C, NM_005813.6:c.1477A>G, NM_005813.5:c.1477A>G, NM_005813.4:c.1477A>G, NM_005813.3:c.1477A>G, XM_005264237.5:c.1477A>G, XM_005264237.4:c.1477A>G, XM_005264237.3:c.1477A>G, XM_005264237.2:c.1477A>G, XM_005264237.1:c.1477A>G, XM_005264238.4:c.1165A>G, XM_005264238.3:c.1165A>G, XM_005264238.2:c.1165A>G, XM_005264238.1:c.1165A>G, XM_017003744.3:c.700A>G, XM_017003744.2:c.700A>G, XM_017003744.1:c.700A>G, XM_047443852.1:c.1477A>G, XM_047443853.1:c.1477A>G, XM_047443854.1:c.958A>G, XM_047443855.1:c.700A>G, XM_047443856.1:c.1477A>G, NP_005804.1:p.Met493Val, XP_005264294.1:p.Met493Val, XP_005264295.1:p.Met389Val, XP_016859233.1:p.Met234Val, XP_047299808.1:p.Met493Val, XP_047299809.1:p.Met493Val, XP_047299810.1:p.Met320Val, XP_047299811.1:p.Met234Val, XP_047299812.1:p.Met493Val

Select item 14808967308.

rs1480896730 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:37274485 (GRCh38)
2:37501628 (GRCh37)
Canonical SPDI:: NC_000002.12:37274484:TT:T
Gene:: PRKD3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.37274486del, NC_000002.11:g.37501629del, NM_005813.6:c.1587del, NM_005813.5:c.1587del, NM_005813.4:c.1587del, NM_005813.3:c.1587del, XM_005264237.5:c.1587del, XM_005264237.4:c.1587del, XM_005264237.3:c.1587del, XM_005264237.2:c.1587del, XM_005264237.1:c.1587del, XM_005264238.4:c.1275del, XM_005264238.3:c.1275del, XM_005264238.2:c.1275del, XM_005264238.1:c.1275del, XM_017003744.3:c.810del, XM_017003744.2:c.810del, XM_017003744.1:c.810del, XM_047443852.1:c.1587del, XM_047443853.1:c.1587del, XM_047443854.1:c.1068del, XM_047443855.1:c.810del, XM_047443856.1:c.1587del, NP_005804.1:p.Ala530fs, XP_005264294.1:p.Ala530fs, XP_005264295.1:p.Ala426fs, XP_016859233.1:p.Ala271fs, XP_047299808.1:p.Ala530fs, XP_047299809.1:p.Ala530fs, XP_047299810.1:p.Ala357fs, XP_047299811.1:p.Ala271fs, XP_047299812.1:p.Ala530fs

Select item 14804333619.

rs1480433361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:37293224 (GRCh38)
2:37520367 (GRCh37)
Canonical SPDI:: NC_000002.12:37293223:A:G,NC_000002.12:37293223:A:T
Gene:: PRKD3 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37293224A>G, NC_000002.12:g.37293224A>T, NC_000002.11:g.37520367A>G, NC_000002.11:g.37520367A>T, NM_005813.6:c.336T>C, NM_005813.6:c.336T>A, NM_005813.5:c.336T>C, NM_005813.5:c.336T>A, NM_005813.4:c.336T>C, NM_005813.4:c.336T>A, NM_005813.3:c.336T>C, NM_005813.3:c.336T>A, XM_005264237.5:c.336T>C, XM_005264237.5:c.336T>A, XM_005264237.4:c.336T>C, XM_005264237.4:c.336T>A, XM_005264237.3:c.336T>C, XM_005264237.3:c.336T>A, XM_005264237.2:c.336T>C, XM_005264237.2:c.336T>A, XM_005264237.1:c.336T>C, XM_005264237.1:c.336T>A, XM_005264238.4:c.24T>C, XM_005264238.4:c.24T>A, XM_005264238.3:c.24T>C, XM_005264238.3:c.24T>A, XM_005264238.2:c.24T>C, XM_005264238.2:c.24T>A, XM_005264238.1:c.24T>C, XM_005264238.1:c.24T>A, XM_047443852.1:c.336T>C, XM_047443852.1:c.336T>A, XM_047443853.1:c.336T>C, XM_047443853.1:c.336T>A, XM_047443856.1:c.336T>C, XM_047443856.1:c.336T>A, NP_005804.1:p.Phe112Leu, XP_005264294.1:p.Phe112Leu, XP_005264295.1:p.Phe8Leu, XP_047299808.1:p.Phe112Leu, XP_047299809.1:p.Phe112Leu, XP_047299812.1:p.Phe112Leu

Select item 148031560410.

rs1480315604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37293158 (GRCh38)
2:37520301 (GRCh37)
Canonical SPDI:: NC_000002.12:37293157:T:C
Gene:: PRKD3 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.37293158T>C, NC_000002.11:g.37520301T>C, NM_005813.6:c.402A>G, NM_005813.5:c.402A>G, NM_005813.4:c.402A>G, NM_005813.3:c.402A>G, XM_005264237.5:c.402A>G, XM_005264237.4:c.402A>G, XM_005264237.3:c.402A>G, XM_005264237.2:c.402A>G, XM_005264237.1:c.402A>G, XM_005264238.4:c.90A>G, XM_005264238.3:c.90A>G, XM_005264238.2:c.90A>G, XM_005264238.1:c.90A>G, XM_017003744.3:c.-86A>G, XM_047443852.1:c.402A>G, XM_047443853.1:c.402A>G, XM_047443856.1:c.402A>G

Select item 148023837411.

rs1480238374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:37267487 (GRCh38)
2:37494630 (GRCh37)
Canonical SPDI:: NC_000002.12:37267486:C:G
Gene:: PRKD3 (Varview), NDUFAF7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37267487C>G, NC_000002.11:g.37494630C>G, NG_053078.1:g.40857C>G, NM_005813.6:c.1827G>C, NM_005813.5:c.1827G>C, NM_005813.4:c.1827G>C, NM_005813.3:c.1827G>C, XM_005264237.5:c.1827G>C, XM_005264237.4:c.1827G>C, XM_005264237.3:c.1827G>C, XM_005264237.2:c.1827G>C, XM_005264237.1:c.1827G>C, XM_005264238.4:c.1515G>C, XM_005264238.3:c.1515G>C, XM_005264238.2:c.1515G>C, XM_005264238.1:c.1515G>C, XM_017003744.3:c.1050G>C, XM_017003744.2:c.1050G>C, XM_017003744.1:c.1050G>C, XM_047443852.1:c.1827G>C, XM_047443853.1:c.1827G>C, XM_047443854.1:c.1308G>C, XM_047443855.1:c.1050G>C, NP_005804.1:p.Lys609Asn, XP_005264294.1:p.Lys609Asn, XP_005264295.1:p.Lys505Asn, XP_016859233.1:p.Lys350Asn, XP_047299808.1:p.Lys609Asn, XP_047299809.1:p.Lys609Asn, XP_047299810.1:p.Lys436Asn, XP_047299811.1:p.Lys350Asn

Select item 147857667512.

rs1478576675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37256786 (GRCh38)
2:37483929 (GRCh37)
Canonical SPDI:: NC_000002.12:37256785:T:C
Gene:: PRKD3 (Varview), NDUFAF7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.37256786T>C, NC_000002.11:g.37483929T>C, NG_053078.1:g.30156T>C, NM_005813.6:c.2289A>G, NM_005813.5:c.2289A>G, NM_005813.4:c.2289A>G, NM_005813.3:c.2289A>G, XM_005264237.5:c.2289A>G, XM_005264237.4:c.2289A>G, XM_005264237.3:c.2289A>G, XM_005264237.2:c.2289A>G, XM_005264237.1:c.2289A>G, XM_005264238.4:c.1977A>G, XM_005264238.3:c.1977A>G, XM_005264238.2:c.1977A>G, XM_005264238.1:c.1977A>G, XM_017003744.3:c.1512A>G, XM_017003744.2:c.1512A>G, XM_017003744.1:c.1512A>G, XM_047443852.1:c.2289A>G, XM_047443853.1:c.2289A>G, XM_047443854.1:c.1770A>G, XM_047443855.1:c.1512A>G

Select item 147814466613.

rs1478144666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:37316404 (GRCh38)
2:37543547 (GRCh37)
Canonical SPDI:: NC_000002.12:37316403:A:C,NC_000002.12:37316403:A:G
Gene:: PRKD3 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000002.12:g.37316404A>C, NC_000002.12:g.37316404A>G, NC_000002.11:g.37543547A>C, NC_000002.11:g.37543547A>G, NM_005813.6:c.121T>G, NM_005813.6:c.121T>C, NM_005813.5:c.121T>G, NM_005813.5:c.121T>C, NM_005813.4:c.121T>G, NM_005813.4:c.121T>C, NM_005813.3:c.121T>G, NM_005813.3:c.121T>C, XM_005264237.5:c.121T>G, XM_005264237.5:c.121T>C, XM_005264237.4:c.121T>G, XM_005264237.4:c.121T>C, XM_005264237.3:c.121T>G, XM_005264237.3:c.121T>C, XM_005264237.2:c.121T>G, XM_005264237.2:c.121T>C, XM_005264237.1:c.121T>G, XM_005264237.1:c.121T>C, XM_047443852.1:c.121T>G, XM_047443852.1:c.121T>C, XM_047443853.1:c.121T>G, XM_047443853.1:c.121T>C, XM_047443856.1:c.121T>G, XM_047443856.1:c.121T>C, NP_005804.1:p.Ser41Ala, NP_005804.1:p.Ser41Pro, XP_005264294.1:p.Ser41Ala, XP_005264294.1:p.Ser41Pro, XP_047299808.1:p.Ser41Ala, XP_047299808.1:p.Ser41Pro, XP_047299809.1:p.Ser41Ala, XP_047299809.1:p.Ser41Pro, XP_047299812.1:p.Ser41Ala, XP_047299812.1:p.Ser41Pro

Select item 147627154914.

rs1476271549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37279882 (GRCh38)
2:37507025 (GRCh37)
Canonical SPDI:: NC_000002.12:37279881:T:C
Gene:: PRKD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37279882T>C, NC_000002.11:g.37507025T>C, NM_005813.6:c.1036A>G, NM_005813.5:c.1036A>G, NM_005813.4:c.1036A>G, NM_005813.3:c.1036A>G, XM_005264237.5:c.1036A>G, XM_005264237.4:c.1036A>G, XM_005264237.3:c.1036A>G, XM_005264237.2:c.1036A>G, XM_005264237.1:c.1036A>G, XM_005264238.4:c.724A>G, XM_005264238.3:c.724A>G, XM_005264238.2:c.724A>G, XM_005264238.1:c.724A>G, XM_017003744.3:c.259A>G, XM_017003744.2:c.259A>G, XM_017003744.1:c.259A>G, XM_047443852.1:c.1036A>G, XM_047443853.1:c.1036A>G, XM_047443854.1:c.517A>G, XM_047443855.1:c.259A>G, XM_047443856.1:c.1036A>G, NP_005804.1:p.Asn346Asp, XP_005264294.1:p.Asn346Asp, XP_005264295.1:p.Asn242Asp, XP_016859233.1:p.Asn87Asp, XP_047299808.1:p.Asn346Asp, XP_047299809.1:p.Asn346Asp, XP_047299810.1:p.Asn173Asp, XP_047299811.1:p.Asn87Asp, XP_047299812.1:p.Asn346Asp

Select item 147535211715.

rs1475352117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:37253350 (GRCh38)
2:37480493 (GRCh37)
Canonical SPDI:: NC_000002.12:37253349:C:G
Gene:: PRKD3 (Varview), NDUFAF7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37253350C>G, NC_000002.11:g.37480493C>G, NG_053078.1:g.26720C>G, NR_146406.2:n.2348C>G, NR_146406.1:n.2375C>G, NR_146408.2:n.1715C>G, NR_146408.1:n.1742C>G, NM_005813.6:c.2500G>C, NM_005813.5:c.2500G>C, NM_005813.4:c.2500G>C, NM_005813.3:c.2500G>C, XM_005264237.5:c.2500G>C, XM_005264237.4:c.2500G>C, XM_005264237.3:c.2500G>C, XM_005264237.2:c.2500G>C, XM_005264237.1:c.2500G>C, XM_005264238.4:c.2188G>C, XM_005264238.3:c.2188G>C, XM_005264238.2:c.2188G>C, XM_005264238.1:c.2188G>C, XM_017003744.3:c.1723G>C, XM_017003744.2:c.1723G>C, XM_017003744.1:c.1723G>C, XM_047443852.1:c.2500G>C, XM_047443853.1:c.2500G>C, XM_047443854.1:c.1981G>C, XM_047443855.1:c.1723G>C, XR_007077549.1:n.1502C>G, NP_005804.1:p.Asp834His, XP_005264294.1:p.Asp834His, XP_005264295.1:p.Asp730His, XP_016859233.1:p.Asp575His, XP_047299808.1:p.Asp834His, XP_047299809.1:p.Asp834His, XP_047299810.1:p.Asp661His, XP_047299811.1:p.Asp575His

Select item 147372350116.

rs1473723501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:37267503 (GRCh38)
2:37494646 (GRCh37)
Canonical SPDI:: NC_000002.12:37267502:A:G
Gene:: PRKD3 (Varview), NDUFAF7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000002.12:g.37267503A>G, NC_000002.11:g.37494646A>G, NG_053078.1:g.40873A>G, NM_005813.6:c.1811T>C, NM_005813.5:c.1811T>C, NM_005813.4:c.1811T>C, NM_005813.3:c.1811T>C, XM_005264237.5:c.1811T>C, XM_005264237.4:c.1811T>C, XM_005264237.3:c.1811T>C, XM_005264237.2:c.1811T>C, XM_005264237.1:c.1811T>C, XM_005264238.4:c.1499T>C, XM_005264238.3:c.1499T>C, XM_005264238.2:c.1499T>C, XM_005264238.1:c.1499T>C, XM_017003744.3:c.1034T>C, XM_017003744.2:c.1034T>C, XM_017003744.1:c.1034T>C, XM_047443852.1:c.1811T>C, XM_047443853.1:c.1811T>C, XM_047443854.1:c.1292T>C, XM_047443855.1:c.1034T>C, NP_005804.1:p.Ile604Thr, XP_005264294.1:p.Ile604Thr, XP_005264295.1:p.Ile500Thr, XP_016859233.1:p.Ile345Thr, XP_047299808.1:p.Ile604Thr, XP_047299809.1:p.Ile604Thr, XP_047299810.1:p.Ile431Thr, XP_047299811.1:p.Ile345Thr

Select item 147230064817.

rs1472300648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:37274460 (GRCh38)
2:37501603 (GRCh37)
Canonical SPDI:: NC_000002.12:37274459:C:G
Gene:: PRKD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.37274460C>G, NC_000002.11:g.37501603C>G, NM_005813.6:c.1612G>C, NM_005813.5:c.1612G>C, NM_005813.4:c.1612G>C, NM_005813.3:c.1612G>C, XM_005264237.5:c.1612G>C, XM_005264237.4:c.1612G>C, XM_005264237.3:c.1612G>C, XM_005264237.2:c.1612G>C, XM_005264237.1:c.1612G>C, XM_005264238.4:c.1300G>C, XM_005264238.3:c.1300G>C, XM_005264238.2:c.1300G>C, XM_005264238.1:c.1300G>C, XM_017003744.3:c.835G>C, XM_017003744.2:c.835G>C, XM_017003744.1:c.835G>C, XM_047443852.1:c.1612G>C, XM_047443853.1:c.1612G>C, XM_047443854.1:c.1093G>C, XM_047443855.1:c.835G>C, XM_047443856.1:c.1612G>C, NP_005804.1:p.Ala538Pro, XP_005264294.1:p.Ala538Pro, XP_005264295.1:p.Ala434Pro, XP_016859233.1:p.Ala279Pro, XP_047299808.1:p.Ala538Pro, XP_047299809.1:p.Ala538Pro, XP_047299810.1:p.Ala365Pro, XP_047299811.1:p.Ala279Pro, XP_047299812.1:p.Ala538Pro

Select item 146993892518.

rs1469938925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37253232 (GRCh38)
2:37480375 (GRCh37)
Canonical SPDI:: NC_000002.12:37253231:T:C
Gene:: PRKD3 (Varview), NDUFAF7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.37253232T>C, NC_000002.11:g.37480375T>C, NG_053078.1:g.26602T>C, NR_146406.2:n.2230T>C, NR_146406.1:n.2257T>C, NR_146408.2:n.1597T>C, NR_146408.1:n.1624T>C, NM_005813.6:c.2618A>G, NM_005813.5:c.2618A>G, NM_005813.4:c.2618A>G, NM_005813.3:c.2618A>G, XM_005264237.5:c.2618A>G, XM_005264237.4:c.2618A>G, XM_005264237.3:c.2618A>G, XM_005264237.2:c.2618A>G, XM_005264237.1:c.2618A>G, XM_005264238.4:c.2306A>G, XM_005264238.3:c.2306A>G, XM_005264238.2:c.2306A>G, XM_005264238.1:c.2306A>G, XM_017003744.3:c.1841A>G, XM_017003744.2:c.1841A>G, XM_017003744.1:c.1841A>G, XM_047443852.1:c.2618A>G, XM_047443853.1:c.2618A>G, XM_047443854.1:c.2099A>G, XM_047443855.1:c.1841A>G, XR_007077549.1:n.1384T>C, NP_005804.1:p.Tyr873Cys, XP_005264294.1:p.Tyr873Cys, XP_005264295.1:p.Tyr769Cys, XP_016859233.1:p.Tyr614Cys, XP_047299808.1:p.Tyr873Cys, XP_047299809.1:p.Tyr873Cys, XP_047299810.1:p.Tyr700Cys, XP_047299811.1:p.Tyr614Cys

Select item 146979055619.

rs1469790556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:37290921 (GRCh38)
2:37518064 (GRCh37)
Canonical SPDI:: NC_000002.12:37290920:T:A
Gene:: PRKD3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37290921T>A, NC_000002.11:g.37518064T>A, NM_005813.6:c.506A>T, NM_005813.5:c.506A>T, NM_005813.4:c.506A>T, NM_005813.3:c.506A>T, XM_005264237.5:c.506A>T, XM_005264237.4:c.506A>T, XM_005264237.3:c.506A>T, XM_005264237.2:c.506A>T, XM_005264237.1:c.506A>T, XM_005264238.4:c.194A>T, XM_005264238.3:c.194A>T, XM_005264238.2:c.194A>T, XM_005264238.1:c.194A>T, XM_047443852.1:c.506A>T, XM_047443853.1:c.506A>T, XM_047443854.1:c.-14A>T, XM_047443855.1:c.-114A>T, XM_047443856.1:c.506A>T, NP_005804.1:p.Asp169Val, XP_005264294.1:p.Asp169Val, XP_005264295.1:p.Asp65Val, XP_047299808.1:p.Asp169Val, XP_047299809.1:p.Asp169Val, XP_047299812.1:p.Asp169Val

Select item 146840361220.

rs1468403612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:37279850 (GRCh38)
2:37506993 (GRCh37)
Canonical SPDI:: NC_000002.12:37279849:A:T
Gene:: PRKD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.37279850A>T, NC_000002.11:g.37506993A>T, NM_005813.6:c.1068T>A, NM_005813.5:c.1068T>A, NM_005813.4:c.1068T>A, NM_005813.3:c.1068T>A, XM_005264237.5:c.1068T>A, XM_005264237.4:c.1068T>A, XM_005264237.3:c.1068T>A, XM_005264237.2:c.1068T>A, XM_005264237.1:c.1068T>A, XM_005264238.4:c.756T>A, XM_005264238.3:c.756T>A, XM_005264238.2:c.756T>A, XM_005264238.1:c.756T>A, XM_017003744.3:c.291T>A, XM_017003744.2:c.291T>A, XM_017003744.1:c.291T>A, XM_047443852.1:c.1068T>A, XM_047443853.1:c.1068T>A, XM_047443854.1:c.549T>A, XM_047443855.1:c.291T>A, XM_047443856.1:c.1068T>A

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