SNP Links for Protein (Select 63003930) - SNP

Links from Protein

Items: 1 to 20 of 431

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Select item 14891562861.

rs1489156286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:61281022 (GRCh38)
14:61747740 (GRCh37)
Canonical SPDI:: NC_000014.9:61281021:C:A,NC_000014.9:61281021:C:G
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.61281022C>A, NC_000014.9:g.61281022C>G, NC_000014.8:g.61747740C>A, NC_000014.8:g.61747740C>G, NM_001017970.3:c.126G>T, NM_001017970.3:c.126G>C, NM_001017970.2:c.126G>T, NM_001017970.2:c.126G>C

Select item 14887471972.

rs1488747197 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCGCGATGCTGGCCGACAGCAGCGGC>- [Show Flanks]
Chromosome:: 14:61281041 (GRCh38)
14:61747759 (GRCh37)
Canonical SPDI:: NC_000014.9:61281034:AGCGGCAGCGCGATGCTGGCCGACAGCAGCGGC:AGCGGC
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGCGGC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.61281041_61281067del, NC_000014.8:g.61747759_61747785del, NM_001017970.3:c.87_113del, NM_001017970.2:c.87_113del, NP_001017970.1:p.Leu30_Leu38del

Select item 14846876943.

rs1484687694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:61280904 (GRCh38)
14:61747622 (GRCh37)
Canonical SPDI:: NC_000014.9:61280903:C:G,NC_000014.9:61280903:C:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.61280904C>G, NC_000014.9:g.61280904C>T, NC_000014.8:g.61747622C>G, NC_000014.8:g.61747622C>T, NM_001017970.3:c.244G>C, NM_001017970.3:c.244G>A, NM_001017970.2:c.244G>C, NM_001017970.2:c.244G>A, NP_001017970.1:p.Ala82Pro, NP_001017970.1:p.Ala82Thr

Select item 14840291934.

rs1484029193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:61280683 (GRCh38)
14:61747401 (GRCh37)
Canonical SPDI:: NC_000014.9:61280682:G:A
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000014.9:g.61280683G>A, NC_000014.8:g.61747401G>A, NM_001017970.3:c.465C>T, NM_001017970.2:c.465C>T

Select item 14827753295.

rs1482775329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:61281143 (GRCh38)
14:61747861 (GRCh37)
Canonical SPDI:: NC_000014.9:61281142:G:A
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000102/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61281143G>A, NC_000014.8:g.61747861G>A, NM_001017970.3:c.5C>T, NM_001017970.2:c.5C>T, NP_001017970.1:p.Thr2Ile

Select item 14823868196.

rs1482386819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:61280913 (GRCh38)
14:61747631 (GRCh37)
Canonical SPDI:: NC_000014.9:61280912:A:C
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61280913A>C, NC_000014.8:g.61747631A>C, NM_001017970.3:c.235T>G, NM_001017970.2:c.235T>G, NP_001017970.1:p.Cys79Gly

Select item 14822859237.

rs1482285923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:61280404 (GRCh38)
14:61747122 (GRCh37)
Canonical SPDI:: NC_000014.9:61280403:C:G
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61280404C>G, NC_000014.8:g.61747122C>G, NM_001017970.3:c.744G>C, NM_001017970.2:c.744G>C, NP_001017970.1:p.Gln248His

Select item 14806760878.

rs1480676087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:61280973 (GRCh38)
14:61747691 (GRCh37)
Canonical SPDI:: NC_000014.9:61280972:C:A,NC_000014.9:61280972:C:G,NC_000014.9:61280972:C:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_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)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61280973C>A, NC_000014.9:g.61280973C>G, NC_000014.9:g.61280973C>T, NC_000014.8:g.61747691C>A, NC_000014.8:g.61747691C>G, NC_000014.8:g.61747691C>T, NM_001017970.3:c.175G>T, NM_001017970.3:c.175G>C, NM_001017970.3:c.175G>A, NM_001017970.2:c.175G>T, NM_001017970.2:c.175G>C, NM_001017970.2:c.175G>A, NP_001017970.1:p.Gly59Cys, NP_001017970.1:p.Gly59Arg, NP_001017970.1:p.Gly59Ser

Select item 14783785139.

rs1478378513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:61280894 (GRCh38)
14:61747612 (GRCh37)
Canonical SPDI:: NC_000014.9:61280893:C:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.61280894C>T, NC_000014.8:g.61747612C>T, NM_001017970.3:c.254G>A, NM_001017970.2:c.254G>A, NP_001017970.1:p.Gly85Asp

Select item 147510264810.

rs1475102648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:61280120 (GRCh38)
14:61746838 (GRCh37)
Canonical SPDI:: NC_000014.9:61280119:T:C,NC_000014.9:61280119:T:G
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.61280120T>C, NC_000014.9:g.61280120T>G, NC_000014.8:g.61746838T>C, NC_000014.8:g.61746838T>G, NM_001017970.3:c.1028A>G, NM_001017970.3:c.1028A>C, NM_001017970.2:c.1028A>G, NM_001017970.2:c.1028A>C, NP_001017970.1:p.Gln343Arg, NP_001017970.1:p.Gln343Pro

Select item 147361717211.

rs1473617172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:61280630 (GRCh38)
14:61747348 (GRCh37)
Canonical SPDI:: NC_000014.9:61280629:G:A
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61280630G>A, NC_000014.8:g.61747348G>A, NM_001017970.3:c.518C>T, NM_001017970.2:c.518C>T, NP_001017970.1:p.Ser173Phe

Select item 147263588112.

rs1472635881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:61280360 (GRCh38)
14:61747078 (GRCh37)
Canonical SPDI:: NC_000014.9:61280359:C:A,NC_000014.9:61280359:C:G,NC_000014.9:61280359:C:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.61280360C>A, NC_000014.9:g.61280360C>G, NC_000014.9:g.61280360C>T, NC_000014.8:g.61747078C>A, NC_000014.8:g.61747078C>G, NC_000014.8:g.61747078C>T, NM_001017970.3:c.788G>T, NM_001017970.3:c.788G>C, NM_001017970.3:c.788G>A, NM_001017970.2:c.788G>T, NM_001017970.2:c.788G>C, NM_001017970.2:c.788G>A, NP_001017970.1:p.Arg263Leu, NP_001017970.1:p.Arg263Pro, NP_001017970.1:p.Arg263His

Select item 147234383113.

rs1472343831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:61280558 (GRCh38)
14:61747276 (GRCh37)
Canonical SPDI:: NC_000014.9:61280557:G:A
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.61280558G>A, NC_000014.8:g.61747276G>A, NM_001017970.3:c.590C>T, NM_001017970.2:c.590C>T, NP_001017970.1:p.Ala197Val

Select item 147198246514.

rs1471982465 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAGGGGGGCGGCAGCGCCCGGCC>- [Show Flanks]
Chromosome:: 14:61280872 (GRCh38)
14:61747590 (GRCh37)
Canonical SPDI:: NC_000014.9:61280871:GCAGGGGGGCGGCAGCGCCCGGCC:
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: inframe_deletion,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.000112/1 (ALFA)
-=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.61280872_61280895del, NC_000014.8:g.61747590_61747613del, NM_001017970.3:c.253_276del, NM_001017970.2:c.253_276del, NP_001017970.1:p.Gly85_Cys92del

Select item 146951774715.

rs1469517747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:61280313 (GRCh38)
14:61747031 (GRCh37)
Canonical SPDI:: NC_000014.9:61280312:G:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.61280313G>T, NC_000014.8:g.61747031G>T, NM_001017970.3:c.835C>A, NM_001017970.2:c.835C>A, NP_001017970.1:p.Pro279Thr

Select item 146946797216.

rs1469467972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:61280422 (GRCh38)
14:61747140 (GRCh37)
Canonical SPDI:: NC_000014.9:61280421:G:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_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_000014.9:g.61280422G>T, NC_000014.8:g.61747140G>T, NM_001017970.3:c.726C>A, NM_001017970.2:c.726C>A, NP_001017970.1:p.Asn242Lys

Select item 146938714317.

rs1469387143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:61281046 (GRCh38)
14:61747764 (GRCh37)
Canonical SPDI:: NC_000014.9:61281045:G:A
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.61281046G>A, NC_000014.8:g.61747764G>A, NM_001017970.3:c.102C>T, NM_001017970.2:c.102C>T

Select item 146725502918.

rs1467255029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:61280940 (GRCh38)
14:61747658 (GRCh37)
Canonical SPDI:: NC_000014.9:61280939:C:A,NC_000014.9:61280939:C:T
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.61280940C>A, NC_000014.9:g.61280940C>T, NC_000014.8:g.61747658C>A, NC_000014.8:g.61747658C>T, NM_001017970.3:c.208G>T, NM_001017970.3:c.208G>A, NM_001017970.2:c.208G>T, NM_001017970.2:c.208G>A, NP_001017970.1:p.Asp70Tyr, NP_001017970.1:p.Asp70Asn

Select item 146331594519.

rs1463315945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:61281132 (GRCh38)
14:61747850 (GRCh37)
Canonical SPDI:: NC_000014.9:61281131:T:G
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.61281132T>G, NC_000014.8:g.61747850T>G, NM_001017970.3:c.16A>C, NM_001017970.2:c.16A>C, NP_001017970.1:p.Thr6Pro

Select item 146313865920.

rs1463138659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:61280551 (GRCh38)
14:61747269 (GRCh37)
Canonical SPDI:: NC_000014.9:61280550:C:G
Gene:: PRKCH (Varview), TMEM30B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_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_000014.9:g.61280551C>G, NC_000014.8:g.61747269C>G, NM_001017970.3:c.597G>C, NM_001017970.2:c.597G>C, NP_001017970.1:p.Trp199Cys

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