SNP Links for Protein (Select 117606357) - SNP

Links from Protein

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Select item 14803064111.

rs1480306411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150267142 (GRCh38)
1:150239542 (GRCh37)
Canonical SPDI:: NC_000001.11:150267141:G:A
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_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_000001.11:g.150267142G>A, NW_003871055.3:g.7082555G>A, NG_029952.2:g.6874C>T, NG_029952.1:g.7068C>T, NM_016022.4:c.542C>T, NM_016022.3:c.542C>T, NM_001077628.3:c.542C>T, NM_001077628.2:c.542C>T, NR_045035.2:n.674C>T, NR_045035.1:n.867C>T, NR_045033.2:n.612C>T, NR_045033.1:n.805C>T, NM_001243771.2:c.371C>T, NM_001243771.1:c.371C>T, NR_045034.2:n.503C>T, NR_045034.1:n.696C>T, NM_001243772.2:c.332C>T, NM_001243772.1:c.332C>T, NC_000001.10:g.150239542G>A, XM_047422066.1:c.371C>T, NP_057106.2:p.Ala181Val, NP_001071096.1:p.Ala181Val, NP_001230700.1:p.Ala124Val, NP_001230701.1:p.Ala111Val, XP_047278022.1:p.Ala124Val

Select item 14659792092.

rs1465979209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150268022 (GRCh38)
1:150240422 (GRCh37)
Canonical SPDI:: NC_000001.11:150268021:A:T
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150268022A>T, NW_003871055.3:g.7083435A>T, NG_029952.2:g.5994T>A, NG_029952.1:g.6188T>A, NM_016022.4:c.219T>A, NM_016022.3:c.219T>A, NM_001077628.3:c.219T>A, NM_001077628.2:c.219T>A, NR_045035.2:n.425T>A, NR_045035.1:n.618T>A, NC_000001.10:g.150240422A>T

Select item 14585101433.

rs1458510143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150268127 (GRCh38)
1:150240527 (GRCh37)
Canonical SPDI:: NC_000001.11:150268126:C:T
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_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_000001.11:g.150268127C>T, NW_003871055.3:g.7083540C>T, NG_029952.2:g.5889G>A, NG_029952.1:g.6083G>A, NM_016022.4:c.114G>A, NM_016022.3:c.114G>A, NM_001077628.3:c.114G>A, NM_001077628.2:c.114G>A, NR_045035.2:n.320G>A, NR_045035.1:n.513G>A, NC_000001.10:g.150240527C>T

Select item 14524846594.

rs1452484659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150267436 (GRCh38)
1:150239836 (GRCh37)
Canonical SPDI:: NC_000001.11:150267435:A:C
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150267436A>C, NW_003871055.3:g.7082849A>C, NG_029952.2:g.6580T>G, NG_029952.1:g.6774T>G, NM_016022.4:c.401T>G, NM_016022.3:c.401T>G, NM_001077628.3:c.401T>G, NM_001077628.2:c.401T>G, NR_045035.2:n.533T>G, NR_045035.1:n.726T>G, NR_045033.2:n.471T>G, NR_045033.1:n.664T>G, NM_001243771.2:c.230T>G, NM_001243771.1:c.230T>G, NR_045034.2:n.362T>G, NR_045034.1:n.555T>G, NM_001243772.2:c.191T>G, NM_001243772.1:c.191T>G, NC_000001.10:g.150239836A>C, XM_047422066.1:c.230T>G, NP_057106.2:p.Val134Gly, NP_001071096.1:p.Val134Gly, NP_001230700.1:p.Val77Gly, NP_001230701.1:p.Val64Gly, XP_047278022.1:p.Val77Gly

Select item 14477455335.

rs1447745533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150268734 (GRCh38)
1:150241134 (GRCh37)
Canonical SPDI:: NC_000001.11:150268733:G:A
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150268734G>A, NW_003871055.3:g.7084147G>A, NG_029952.2:g.5282C>T, NG_029952.1:g.5476C>T, NM_016022.4:c.77C>T, NM_016022.3:c.77C>T, NM_001077628.3:c.77C>T, NM_001077628.2:c.77C>T, NR_045035.2:n.283C>T, NR_045035.1:n.476C>T, NR_045033.2:n.283C>T, NR_045033.1:n.476C>T, NM_001243771.2:c.77C>T, NM_001243771.1:c.77C>T, NR_045034.2:n.283C>T, NR_045034.1:n.476C>T, NM_001243772.2:c.77C>T, NM_001243772.1:c.77C>T, NC_000001.10:g.150241134G>A, XM_047422066.1:c.77C>T, XM_047430446.1:c.-236G>A, XM_047430455.1:c.-236G>A, XM_047430461.1:c.-236G>A, NP_057106.2:p.Ala26Val, NP_001071096.1:p.Ala26Val, NP_001230700.1:p.Ala26Val, NP_001230701.1:p.Ala26Val, XP_047278022.1:p.Ala26Val

Select item 14459410456.

rs1445941045 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>- [Show Flanks]
Chromosome:: 1:150268802 (GRCh38)
1:150241202 (GRCh37)
Canonical SPDI:: NC_000001.11:150268799:GCAGC:GC
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150268802_150268804del, NW_003871055.3:g.7084215_7084217del, NG_029952.2:g.5214_5216del, NG_029952.1:g.5408_5410del, NM_016022.4:c.9_11del, NM_016022.3:c.9_11del, NM_001077628.3:c.9_11del, NM_001077628.2:c.9_11del, NR_045035.2:n.215_217del, NR_045035.1:n.408_410del, NR_045033.2:n.215_217del, NR_045033.1:n.408_410del, NM_001243771.2:c.9_11del, NM_001243771.1:c.9_11del, NR_045034.2:n.215_217del, NR_045034.1:n.408_410del, NM_001243772.2:c.9_11del, NM_001243772.1:c.9_11del, NC_000001.10:g.150241202_150241204del, XM_047422066.1:c.9_11del, XM_047430446.1:c.-168_-166del, XM_047430455.1:c.-168_-166del, XM_047430461.1:c.-168_-166del, NP_057106.2:p.Ala4del, NP_001071096.1:p.Ala4del, NP_001230700.1:p.Ala4del, NP_001230701.1:p.Ala4del, XP_047278022.1:p.Ala4del

Select item 14451514397.

rs1445151439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150268708 (GRCh38)
1:150241108 (GRCh37)
Canonical SPDI:: NC_000001.11:150268707:G:C
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150268708G>C, NW_003871055.3:g.7084121G>C, NG_029952.2:g.5308C>G, NG_029952.1:g.5502C>G, NM_016022.4:c.103C>G, NM_016022.3:c.103C>G, NM_001077628.3:c.103C>G, NM_001077628.2:c.103C>G, NR_045035.2:n.309C>G, NR_045035.1:n.502C>G, NR_045033.2:n.309C>G, NR_045033.1:n.502C>G, NM_001243771.2:c.103C>G, NM_001243771.1:c.103C>G, NR_045034.2:n.309C>G, NR_045034.1:n.502C>G, NM_001243772.2:c.103C>G, NM_001243772.1:c.103C>G, NC_000001.10:g.150241108G>C, XM_047422066.1:c.103C>G, NP_057106.2:p.Leu35Val, NP_001071096.1:p.Leu35Val, NP_001230700.1:p.Leu35Val, NP_001230701.1:p.Leu35Val, XP_047278022.1:p.Leu35Val

Select item 14413984628.

rs1441398462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:150268778 (GRCh38)
1:150241178 (GRCh37)
Canonical SPDI:: NC_000001.11:150268777:G:A,NC_000001.11:150268777:G:C
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.150268778G>A, NC_000001.11:g.150268778G>C, NW_003871055.3:g.7084191G>A, NW_003871055.3:g.7084191G>C, NG_029952.2:g.5238C>T, NG_029952.2:g.5238C>G, NG_029952.1:g.5432C>T, NG_029952.1:g.5432C>G, NM_016022.4:c.33C>T, NM_016022.4:c.33C>G, NM_016022.3:c.33C>T, NM_016022.3:c.33C>G, NM_001077628.3:c.33C>T, NM_001077628.3:c.33C>G, NM_001077628.2:c.33C>T, NM_001077628.2:c.33C>G, NR_045035.2:n.239C>T, NR_045035.2:n.239C>G, NR_045035.1:n.432C>T, NR_045035.1:n.432C>G, NR_045033.2:n.239C>T, NR_045033.2:n.239C>G, NR_045033.1:n.432C>T, NR_045033.1:n.432C>G, NM_001243771.2:c.33C>T, NM_001243771.2:c.33C>G, NM_001243771.1:c.33C>T, NM_001243771.1:c.33C>G, NR_045034.2:n.239C>T, NR_045034.2:n.239C>G, NR_045034.1:n.432C>T, NR_045034.1:n.432C>G, NM_001243772.2:c.33C>T, NM_001243772.2:c.33C>G, NM_001243772.1:c.33C>T, NM_001243772.1:c.33C>G, NC_000001.10:g.150241178G>A, NC_000001.10:g.150241178G>C, XM_047422066.1:c.33C>T, XM_047422066.1:c.33C>G, XM_047430446.1:c.-192G>A, XM_047430446.1:c.-192G>C, XM_047430455.1:c.-192G>A, XM_047430455.1:c.-192G>C, XM_047430461.1:c.-192G>A, XM_047430461.1:c.-192G>C, NP_057106.2:p.Phe11Leu, NP_001071096.1:p.Phe11Leu, NP_001230700.1:p.Phe11Leu, NP_001230701.1:p.Phe11Leu, XP_047278022.1:p.Phe11Leu

Select item 14275196359.

rs1427519635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150267165 (GRCh38)
1:150239565 (GRCh37)
Canonical SPDI:: NC_000001.11:150267164:A:G
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150267165A>G, NW_003871055.3:g.7082578A>G, NG_029952.2:g.6851T>C, NG_029952.1:g.7045T>C, NM_016022.4:c.519T>C, NM_016022.3:c.519T>C, NM_001077628.3:c.519T>C, NM_001077628.2:c.519T>C, NR_045035.2:n.651T>C, NR_045035.1:n.844T>C, NR_045033.2:n.589T>C, NR_045033.1:n.782T>C, NM_001243771.2:c.348T>C, NM_001243771.1:c.348T>C, NR_045034.2:n.480T>C, NR_045034.1:n.673T>C, NM_001243772.2:c.309T>C, NM_001243772.1:c.309T>C, NC_000001.10:g.150239565A>G, XM_047422066.1:c.348T>C

Select item 140650276010.

rs1406502760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150266584 (GRCh38)
1:150238984 (GRCh37)
Canonical SPDI:: NC_000001.11:150266583:C:T
Gene:: APH1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150266584C>T, NW_003871055.3:g.7081997C>T, NG_029952.2:g.7432G>A, NG_029952.1:g.7626G>A, NM_016022.4:c.682G>A, NM_016022.3:c.682G>A, NM_001077628.3:c.682G>A, NM_001077628.2:c.682G>A, NR_045035.2:n.814G>A, NR_045035.1:n.1007G>A, NR_045033.2:n.752G>A, NR_045033.1:n.945G>A, NM_001243771.2:c.511G>A, NM_001243771.1:c.511G>A, NR_045034.2:n.643G>A, NR_045034.1:n.836G>A, NM_001243772.2:c.472G>A, NM_001243772.1:c.472G>A, NC_000001.10:g.150238984C>T, XM_047422066.1:c.511G>A, NP_057106.2:p.Ala228Thr, NP_001071096.1:p.Ala228Thr, NP_001230700.1:p.Ala171Thr, NP_001230701.1:p.Ala158Thr, XP_047278022.1:p.Ala171Thr

Select item 139088452011.

rs1390884520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150267975 (GRCh38)
1:150240375 (GRCh37)
Canonical SPDI:: NC_000001.11:150267974:G:A
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.150267975G>A, NW_003871055.3:g.7083388G>A, NG_029952.2:g.6041C>T, NG_029952.1:g.6235C>T, NM_016022.4:c.266C>T, NM_016022.3:c.266C>T, NM_001077628.3:c.266C>T, NM_001077628.2:c.266C>T, NR_045035.2:n.472C>T, NR_045035.1:n.665C>T, NR_045033.2:n.336C>T, NR_045033.1:n.529C>T, NM_001243772.2:c.130C>T, NM_001243772.1:c.130C>T, NC_000001.10:g.150240375G>A, NP_057106.2:p.Ala89Val, NP_001071096.1:p.Ala89Val, NP_001230701.1:p.Pro44Ser

Select item 138202654912.

rs1382026549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150266564 (GRCh38)
1:150238964 (GRCh37)
Canonical SPDI:: NC_000001.11:150266563:C:T
Gene:: APH1A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000001.11:g.150266564C>T, NW_003871055.3:g.7081977C>T, NG_029952.2:g.7452G>A, NG_029952.1:g.7646G>A, NM_016022.4:c.702G>A, NM_016022.3:c.702G>A, NM_001077628.3:c.702G>A, NM_001077628.2:c.702G>A, NR_045035.2:n.834G>A, NR_045035.1:n.1027G>A, NR_045033.2:n.772G>A, NR_045033.1:n.965G>A, NM_001243771.2:c.531G>A, NM_001243771.1:c.531G>A, NR_045034.2:n.663G>A, NR_045034.1:n.856G>A, NM_001243772.2:c.492G>A, NM_001243772.1:c.492G>A, NC_000001.10:g.150238964C>T, XM_047422066.1:c.531G>A

Select item 138105394013.

rs1381053940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150267451 (GRCh38)
1:150239851 (GRCh37)
Canonical SPDI:: NC_000001.11:150267450:C:T
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000001.11:g.150267451C>T, NW_003871055.3:g.7082864C>T, NG_029952.2:g.6565G>A, NG_029952.1:g.6759G>A, NM_016022.4:c.386G>A, NM_016022.3:c.386G>A, NM_001077628.3:c.386G>A, NM_001077628.2:c.386G>A, NR_045035.2:n.518G>A, NR_045035.1:n.711G>A, NR_045033.2:n.456G>A, NR_045033.1:n.649G>A, NM_001243771.2:c.215G>A, NM_001243771.1:c.215G>A, NR_045034.2:n.347G>A, NR_045034.1:n.540G>A, NM_001243772.2:c.176G>A, NM_001243772.1:c.176G>A, NC_000001.10:g.150239851C>T, XM_047422066.1:c.215G>A, NP_057106.2:p.Ser129Asn, NP_001071096.1:p.Ser129Asn, NP_001230700.1:p.Ser72Asn, NP_001230701.1:p.Ser59Asn, XP_047278022.1:p.Ser72Asn

Select item 137971547214.

rs1379715472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150268772 (GRCh38)
1:150241172 (GRCh37)
Canonical SPDI:: NC_000001.11:150268771:C:T
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,500B_downstream_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_000001.11:g.150268772C>T, NW_003871055.3:g.7084185C>T, NG_029952.2:g.5244G>A, NG_029952.1:g.5438G>A, NM_016022.4:c.39G>A, NM_016022.3:c.39G>A, NM_001077628.3:c.39G>A, NM_001077628.2:c.39G>A, NR_045035.2:n.245G>A, NR_045035.1:n.438G>A, NR_045033.2:n.245G>A, NR_045033.1:n.438G>A, NM_001243771.2:c.39G>A, NM_001243771.1:c.39G>A, NR_045034.2:n.245G>A, NR_045034.1:n.438G>A, NM_001243772.2:c.39G>A, NM_001243772.1:c.39G>A, NC_000001.10:g.150241172C>T, XM_047422066.1:c.39G>A, XM_047430446.1:c.-198C>T, XM_047430455.1:c.-198C>T, XM_047430461.1:c.-198C>T

Select item 137957708115.

rs1379577081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150268711 (GRCh38)
1:150241111 (GRCh37)
Canonical SPDI:: NC_000001.11:150268710:T:A
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.150268711T>A, NW_003871055.3:g.7084124T>A, NG_029952.2:g.5305A>T, NG_029952.1:g.5499A>T, NM_016022.4:c.100A>T, NM_016022.3:c.100A>T, NM_001077628.3:c.100A>T, NM_001077628.2:c.100A>T, NR_045035.2:n.306A>T, NR_045035.1:n.499A>T, NR_045033.2:n.306A>T, NR_045033.1:n.499A>T, NM_001243771.2:c.100A>T, NM_001243771.1:c.100A>T, NR_045034.2:n.306A>T, NR_045034.1:n.499A>T, NM_001243772.2:c.100A>T, NM_001243772.1:c.100A>T, NC_000001.10:g.150241111T>A, XM_047422066.1:c.100A>T, NP_057106.2:p.Ile34Phe, NP_001071096.1:p.Ile34Phe, NP_001230700.1:p.Ile34Phe, NP_001230701.1:p.Ile34Phe, XP_047278022.1:p.Ile34Phe

Select item 135376203516.

rs1353762035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:150267414 (GRCh38)
1:150239814 (GRCh37)
Canonical SPDI:: NC_000001.11:150267413:T:G
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150267414T>G, NW_003871055.3:g.7082827T>G, NG_029952.2:g.6602A>C, NG_029952.1:g.6796A>C, NM_016022.4:c.423A>C, NM_016022.3:c.423A>C, NM_001077628.3:c.423A>C, NM_001077628.2:c.423A>C, NR_045035.2:n.555A>C, NR_045035.1:n.748A>C, NR_045033.2:n.493A>C, NR_045033.1:n.686A>C, NM_001243771.2:c.252A>C, NM_001243771.1:c.252A>C, NR_045034.2:n.384A>C, NR_045034.1:n.577A>C, NM_001243772.2:c.213A>C, NM_001243772.1:c.213A>C, NC_000001.10:g.150239814T>G, XM_047422066.1:c.252A>C

Select item 133325617417.

rs1333256174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150268014 (GRCh38)
1:150240414 (GRCh37)
Canonical SPDI:: NC_000001.11:150268013:G:A
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150268014G>A, NW_003871055.3:g.7083427G>A, NG_029952.2:g.6002C>T, NG_029952.1:g.6196C>T, NM_016022.4:c.227C>T, NM_016022.3:c.227C>T, NM_001077628.3:c.227C>T, NM_001077628.2:c.227C>T, NR_045035.2:n.433C>T, NR_045035.1:n.626C>T, NC_000001.10:g.150240414G>A, NP_057106.2:p.Ala76Val, NP_001071096.1:p.Ala76Val

Select item 133291853718.

rs1332918537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150267968 (GRCh38)
1:150240368 (GRCh37)
Canonical SPDI:: NC_000001.11:150267967:G:A
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,upstream_transcript_variant,synonymous_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150267968G>A, NW_003871055.3:g.7083381G>A, NG_029952.2:g.6048C>T, NG_029952.1:g.6242C>T, NM_016022.4:c.273C>T, NM_016022.3:c.273C>T, NM_001077628.3:c.273C>T, NM_001077628.2:c.273C>T, NR_045035.2:n.479C>T, NR_045035.1:n.672C>T, NR_045033.2:n.343C>T, NR_045033.1:n.536C>T, NM_001243772.2:c.137C>T, NM_001243772.1:c.137C>T, NC_000001.10:g.150240368G>A, NP_001230701.1:p.Thr46Ile

Select item 133253961819.

rs1332539618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150268714 (GRCh38)
1:150241114 (GRCh37)
Canonical SPDI:: NC_000001.11:150268713:T:A
Gene:: APH1A (Varview), C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.150268714T>A, NW_003871055.3:g.7084127T>A, NG_029952.2:g.5302A>T, NG_029952.1:g.5496A>T, NM_016022.4:c.97A>T, NM_016022.3:c.97A>T, NM_001077628.3:c.97A>T, NM_001077628.2:c.97A>T, NR_045035.2:n.303A>T, NR_045035.1:n.496A>T, NR_045033.2:n.303A>T, NR_045033.1:n.496A>T, NM_001243771.2:c.97A>T, NM_001243771.1:c.97A>T, NR_045034.2:n.303A>T, NR_045034.1:n.496A>T, NM_001243772.2:c.97A>T, NM_001243772.1:c.97A>T, NC_000001.10:g.150241114T>A, XM_047422066.1:c.97A>T, NP_057106.2:p.Ile33Phe, NP_001071096.1:p.Ile33Phe, NP_001230700.1:p.Ile33Phe, NP_001230701.1:p.Ile33Phe, XP_047278022.1:p.Ile33Phe

Select item 131589346220.

rs1315893462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150267377 (GRCh38)
1:150239777 (GRCh37)
Canonical SPDI:: NC_000001.11:150267376:G:A
Gene:: APH1A (Varview), C1orf54 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150267377G>A, NW_003871055.3:g.7082790G>A, NG_029952.2:g.6639C>T, NG_029952.1:g.6833C>T, NM_016022.4:c.460C>T, NM_016022.3:c.460C>T, NM_001077628.3:c.460C>T, NM_001077628.2:c.460C>T, NR_045035.2:n.592C>T, NR_045035.1:n.785C>T, NR_045033.2:n.530C>T, NR_045033.1:n.723C>T, NM_001243771.2:c.289C>T, NM_001243771.1:c.289C>T, NR_045034.2:n.421C>T, NR_045034.1:n.614C>T, NM_001243772.2:c.250C>T, NM_001243772.1:c.250C>T, NC_000001.10:g.150239777G>A, XM_047422066.1:c.289C>T, NP_057106.2:p.Pro154Ser, NP_001071096.1:p.Pro154Ser, NP_001230700.1:p.Pro97Ser, NP_001230701.1:p.Pro84Ser, XP_047278022.1:p.Pro97Ser

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