SNP Links for Protein (Select 4501885) - SNP

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Links from Protein

Items: 1 to 20 of 317

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Select item 14847409261.

rs1484740926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:5529637 (GRCh38)
7:5569268 (GRCh37)
Canonical SPDI:: NC_000007.14:5529636:C:A,NC_000007.14:5529636:C:T
Gene:: ACTB (Varview)
Functional Consequence:: 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_000007.14:g.5529637C>A, NC_000007.14:g.5529637C>T, NC_000007.13:g.5569268C>A, NC_000007.13:g.5569268C>T, NG_007992.1:g.5965G>T, NG_007992.1:g.5965G>A, NM_001101.5:c.21G>T, NM_001101.5:c.21G>A, NM_001101.4:c.21G>T, NM_001101.4:c.21G>A, NM_001101.3:c.21G>T, NM_001101.3:c.21G>A

Select item 14844910642.

rs1484491064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5527876 (GRCh38)
7:5567507 (GRCh37)
Canonical SPDI:: NC_000007.14:5527875:C:T
Gene:: ACTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.5527876C>T, NC_000007.13:g.5567507C>T, NG_007992.1:g.7726G>A, NM_001101.5:c.1000G>A, NM_001101.4:c.1000G>A, NM_001101.3:c.1000G>A, NP_001092.1:p.Glu334Lys

Select item 14829018613.

rs1482901861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528111 (GRCh38)
7:5567742 (GRCh37)
Canonical SPDI:: NC_000007.14:5528110:G:A
Gene:: ACTB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5528111G>A, NC_000007.13:g.5567742G>A, NG_007992.1:g.7491C>T, NM_001101.5:c.877C>T, NM_001101.4:c.877C>T, NM_001101.3:c.877C>T

Select item 14761897204.

rs1476189720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:5529273 (GRCh38)
7:5568904 (GRCh37)
Canonical SPDI:: NC_000007.14:5529272:T:G
Gene:: ACTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.5529273T>G, NC_000007.13:g.5568904T>G, NG_007992.1:g.6329A>C, NM_001101.5:c.251A>C, NM_001101.4:c.251A>C, NM_001101.3:c.251A>C, NP_001092.1:p.Lys84Thr

Select item 14759755165.

rs1475975516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528339 (GRCh38)
7:5567970 (GRCh37)
Canonical SPDI:: NC_000007.14:5528338:G:A
Gene:: ACTB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5528339G>A, NC_000007.13:g.5567970G>A, NG_007992.1:g.7263C>T, NM_001101.5:c.744C>T, NM_001101.4:c.744C>T, NM_001101.3:c.744C>T

Select item 14754881716.

rs1475488171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528022 (GRCh38)
7:5567653 (GRCh37)
Canonical SPDI:: NC_000007.14:5528021:G:A
Gene:: ACTB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000177/3 (TOMMO)
HGVS:: NC_000007.14:g.5528022G>A, NC_000007.13:g.5567653G>A, NG_007992.1:g.7580C>T, NM_001101.5:c.966C>T, NM_001101.4:c.966C>T, NM_001101.3:c.966C>T

Select item 14720626077.

rs1472062607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528558 (GRCh38)
7:5568189 (GRCh37)
Canonical SPDI:: NC_000007.14:5528557:G:A
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.5528558G>A, NC_000007.13:g.5568189G>A, NG_007992.1:g.7044C>T, NM_001101.5:c.525C>T, NM_001101.4:c.525C>T, NM_001101.3:c.525C>T

Select item 14654530738.

rs1465453073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5527784 (GRCh38)
7:5567415 (GRCh37)
Canonical SPDI:: NC_000007.14:5527783:C:T
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.001092/2 (Korea1K)
HGVS:: NC_000007.14:g.5527784C>T, NC_000007.13:g.5567415C>T, NG_007992.1:g.7818G>A, NM_001101.5:c.1092G>A, NM_001101.4:c.1092G>A, NM_001101.3:c.1092G>A

Select item 14645355969.

rs1464535596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528397 (GRCh38)
7:5568028 (GRCh37)
Canonical SPDI:: NC_000007.14:5528396:G:A
Gene:: ACTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5528397G>A, NC_000007.13:g.5568028G>A, NG_007992.1:g.7205C>T, NM_001101.5:c.686C>T, NM_001101.4:c.686C>T, NM_001101.3:c.686C>T, NP_001092.1:p.Thr229Met

Select item 146319078310.

rs1463190783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5528105 (GRCh38)
7:5567736 (GRCh37)
Canonical SPDI:: NC_000007.14:5528104:C:T
Gene:: ACTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5528105C>T, NC_000007.13:g.5567736C>T, NG_007992.1:g.7497G>A, NM_001101.5:c.883G>A, NM_001101.4:c.883G>A, NM_001101.3:c.883G>A, NP_001092.1:p.Ala295Thr

Select item 145620336811.

rs1456203368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5528435 (GRCh38)
7:5568066 (GRCh37)
Canonical SPDI:: NC_000007.14:5528434:C:G
Gene:: ACTB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5528435C>G, NC_000007.13:g.5568066C>G, NG_007992.1:g.7167G>C, NM_001101.5:c.648G>C, NM_001101.4:c.648G>C, NM_001101.3:c.648G>C

Select item 144918802312.

rs1449188023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:5529194 (GRCh38)
7:5568825 (GRCh37)
Canonical SPDI:: NC_000007.14:5529193:C:A,NC_000007.14:5529193:C:G
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.5529194C>A, NC_000007.14:g.5529194C>G, NC_000007.13:g.5568825C>A, NC_000007.13:g.5568825C>G, NG_007992.1:g.6408G>T, NG_007992.1:g.6408G>C, NM_001101.5:c.330G>T, NM_001101.5:c.330G>C, NM_001101.4:c.330G>T, NM_001101.4:c.330G>C, NM_001101.3:c.330G>T, NM_001101.3:c.330G>C

Select item 144799139613.

rs1447991396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5529375 (GRCh38)
7:5569006 (GRCh37)
Canonical SPDI:: NC_000007.14:5529374:T:C
Gene:: ACTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.5529375T>C, NC_000007.13:g.5569006T>C, NG_007992.1:g.6227A>G, NM_001101.5:c.149A>G, NM_001101.4:c.149A>G, NM_001101.3:c.149A>G, NP_001092.1:p.Lys50Arg

Select item 144756860114.

rs1447568601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5528030 (GRCh38)
7:5567661 (GRCh37)
Canonical SPDI:: NC_000007.14:5528029:G:A
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5528030G>A, NC_000007.13:g.5567661G>A, NG_007992.1:g.7572C>T, NM_001101.5:c.958C>T, NM_001101.4:c.958C>T, NM_001101.3:c.958C>T

Select item 144693216415.

rs1446932164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5529254 (GRCh38)
7:5568885 (GRCh37)
Canonical SPDI:: NC_000007.14:5529253:G:A
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.5529254G>A, NC_000007.13:g.5568885G>A, NG_007992.1:g.6348C>T, NM_001101.5:c.270C>T, NM_001101.4:c.270C>T, NM_001101.3:c.270C>T

Select item 144201406316.

rs1442014063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:5529544 (GRCh38)
7:5569175 (GRCh37)
Canonical SPDI:: NC_000007.14:5529543:G:A,NC_000007.14:5529543:G:C
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000551/1 (Korea1K)
HGVS:: NC_000007.14:g.5529544G>A, NC_000007.14:g.5529544G>C, NC_000007.13:g.5569175G>A, NC_000007.13:g.5569175G>C, NG_007992.1:g.6058C>T, NG_007992.1:g.6058C>G, NM_001101.5:c.114C>T, NM_001101.5:c.114C>G, NM_001101.4:c.114C>T, NM_001101.4:c.114C>G, NM_001101.3:c.114C>T, NM_001101.3:c.114C>G

Select item 144161602817.

rs1441616028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:5528025 (GRCh38)
7:5567656 (GRCh37)
Canonical SPDI:: NC_000007.14:5528024:T:A
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_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)
A=0.001369/4 (KOREAN)
HGVS:: NC_000007.14:g.5528025T>A, NC_000007.13:g.5567656T>A, NG_007992.1:g.7577A>T, NM_001101.5:c.963A>T, NM_001101.4:c.963A>T, NM_001101.3:c.963A>T

Select item 143518413218.

rs1435184132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:5529365 (GRCh38)
7:5568996 (GRCh37)
Canonical SPDI:: NC_000007.14:5529364:A:G
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.5529365A>G, NC_000007.13:g.5568996A>G, NG_007992.1:g.6237T>C, NM_001101.5:c.159T>C, NM_001101.4:c.159T>C, NM_001101.3:c.159T>C

Select item 143423872819.

rs1434238728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5528360 (GRCh38)
7:5567991 (GRCh37)
Canonical SPDI:: NC_000007.14:5528359:C:T
Gene:: ACTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.5528360C>T, NC_000007.13:g.5567991C>T, NG_007992.1:g.7242G>A, NM_001101.5:c.723G>A, NM_001101.4:c.723G>A, NM_001101.3:c.723G>A

Select item 143201236620.

rs1432012366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5527785 (GRCh38)
7:5567416 (GRCh37)
Canonical SPDI:: NC_000007.14:5527784:T:C
Gene:: ACTB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5527785T>C, NC_000007.13:g.5567416T>C, NG_007992.1:g.7817A>G, NM_001101.5:c.1091A>G, NM_001101.4:c.1091A>G, NM_001101.3:c.1091A>G, NP_001092.1:p.Glu364Gly

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