SNP Links for Protein (Select 21361278) - SNP

Links from Protein

Items: 1 to 20 of 336

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Select item 14825506171.

rs1482550617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51109152 (GRCh38)
12:51502935 (GRCh37)
Canonical SPDI:: NC_000012.12:51109151:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51109152T>C, NC_000012.11:g.51502935T>C, NG_029908.1:g.68992A>G, NM_005653.5:c.686A>G, NM_005653.4:c.686A>G, NM_001173452.2:c.686A>G, NM_001173452.1:c.686A>G, NP_005644.2:p.His229Arg, NP_001166923.1:p.His229Arg

Select item 14800435332.

rs1480043533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:51101945 (GRCh38)
12:51495728 (GRCh37)
Canonical SPDI:: NC_000012.12:51101944:A:G
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51101945A>G, NC_000012.11:g.51495728A>G, NG_029908.1:g.76199T>C, NM_005653.5:c.1141T>C, NM_005653.4:c.1141T>C, NM_001173452.2:c.1141T>C, NM_001173452.1:c.1141T>C, NM_001173453.2:c.988T>C, NM_001173453.1:c.988T>C

Select item 14796578233.

rs1479657823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:51098805 (GRCh38)
12:51492588 (GRCh37)
Canonical SPDI:: NC_000012.12:51098804:T:A
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51098805T>A, NC_000012.11:g.51492588T>A, NG_029908.1:g.79339A>T, NM_005653.5:c.1390A>T, NM_005653.4:c.1390A>T, NM_001173452.2:c.1390A>T, NM_001173452.1:c.1390A>T, NM_001173453.2:c.1237A>T, NM_001173453.1:c.1237A>T, NP_005644.2:p.Thr464Ser, NP_001166923.1:p.Thr464Ser, NP_001166924.1:p.Thr413Ser

Select item 14758134234.

rs1475813423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51099684 (GRCh38)
12:51493467 (GRCh37)
Canonical SPDI:: NC_000012.12:51099683:T:C
Gene:: TFCP2 (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_000012.12:g.51099684T>C, NC_000012.11:g.51493467T>C, NG_029908.1:g.78460A>G, NM_005653.5:c.1247A>G, NM_005653.4:c.1247A>G, NM_001173452.2:c.1247A>G, NM_001173452.1:c.1247A>G, NM_001173453.2:c.1094A>G, NM_001173453.1:c.1094A>G, NP_005644.2:p.Glu416Gly, NP_001166923.1:p.Glu416Gly, NP_001166924.1:p.Glu365Gly

Select item 14690614475.

rs1469061447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:51107334 (GRCh38)
12:51501117 (GRCh37)
Canonical SPDI:: NC_000012.12:51107333:C:T
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000012.12:g.51107334C>T, NC_000012.11:g.51501117C>T, NG_029908.1:g.70810G>A, NM_005653.5:c.730G>A, NM_005653.4:c.730G>A, NM_001173452.2:c.730G>A, NM_001173452.1:c.730G>A, NM_001173453.2:c.577G>A, NM_001173453.1:c.577G>A, NP_005644.2:p.Asp244Asn, NP_001166923.1:p.Asp244Asn, NP_001166924.1:p.Asp193Asn

Select item 14682264226.

rs1468226422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:51110907 (GRCh38)
12:51504690 (GRCh37)
Canonical SPDI:: NC_000012.12:51110906:G:T
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.51110907G>T, NC_000012.11:g.51504690G>T, NG_029908.1:g.67237C>A, NM_005653.5:c.534C>A, NM_005653.4:c.534C>A, NM_001173452.2:c.534C>A, NM_001173452.1:c.534C>A, NM_001173453.2:c.534C>A, NM_001173453.1:c.534C>A, NP_005644.2:p.Asp178Glu, NP_001166923.1:p.Asp178Glu, NP_001166924.1:p.Asp178Glu

Select item 14675573217.

rs1467557321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51107327 (GRCh38)
12:51501110 (GRCh37)
Canonical SPDI:: NC_000012.12:51107326:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51107327T>C, NC_000012.11:g.51501110T>C, NG_029908.1:g.70817A>G, NM_005653.5:c.737A>G, NM_005653.4:c.737A>G, NM_001173452.2:c.737A>G, NM_001173452.1:c.737A>G, NM_001173453.2:c.584A>G, NM_001173453.1:c.584A>G, NP_005644.2:p.Lys246Arg, NP_001166923.1:p.Lys246Arg, NP_001166924.1:p.Lys195Arg

Select item 14674362478.

rs1467436247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:51099758 (GRCh38)
12:51493541 (GRCh37)
Canonical SPDI:: NC_000012.12:51099757:G:A
Gene:: TFCP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51099758G>A, NC_000012.11:g.51493541G>A, NG_029908.1:g.78386C>T, NM_005653.5:c.1173C>T, NM_005653.4:c.1173C>T, NM_001173452.2:c.1173C>T, NM_001173452.1:c.1173C>T, NM_001173453.2:c.1020C>T, NM_001173453.1:c.1020C>T

Select item 14670791619.

rs1467079161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:51110921 (GRCh38)
12:51504704 (GRCh37)
Canonical SPDI:: NC_000012.12:51110920:C:T
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.51110921C>T, NC_000012.11:g.51504704C>T, NG_029908.1:g.67223G>A, NM_005653.5:c.520G>A, NM_005653.4:c.520G>A, NM_001173452.2:c.520G>A, NM_001173452.1:c.520G>A, NM_001173453.2:c.520G>A, NM_001173453.1:c.520G>A, NP_005644.2:p.Glu174Lys, NP_001166923.1:p.Glu174Lys, NP_001166924.1:p.Glu174Lys

Select item 146002112410.

rs1460021124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:51106541 (GRCh38)
12:51500324 (GRCh37)
Canonical SPDI:: NC_000012.12:51106540:A:C
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51106541A>C, NC_000012.11:g.51500324A>C, NG_029908.1:g.71603T>G, NM_005653.5:c.901T>G, NM_005653.4:c.901T>G, NM_001173452.2:c.901T>G, NM_001173452.1:c.901T>G, NM_001173453.2:c.748T>G, NM_001173453.1:c.748T>G, NP_005644.2:p.Phe301Val, NP_001166923.1:p.Phe301Val, NP_001166924.1:p.Phe250Val

Select item 145839723611.

rs1458397236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:51172345 (GRCh38)
12:51566128 (GRCh37)
Canonical SPDI:: NC_000012.12:51172344:C:A,NC_000012.12:51172344:C:T
Gene:: TFCP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000174/4 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51172345C>A, NC_000012.12:g.51172345C>T, NC_000012.11:g.51566128C>A, NC_000012.11:g.51566128C>T, NG_029908.1:g.5799G>T, NG_029908.1:g.5799G>A, NM_005653.5:c.78G>T, NM_005653.5:c.78G>A, NM_005653.4:c.78G>T, NM_005653.4:c.78G>A, NM_001173452.2:c.78G>T, NM_001173452.2:c.78G>A, NM_001173452.1:c.78G>T, NM_001173452.1:c.78G>A, NM_001173453.2:c.78G>T, NM_001173453.2:c.78G>A, NM_001173453.1:c.78G>T, NM_001173453.1:c.78G>A

Select item 145376422212.

rs1453764222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51096000 (GRCh38)
12:51489783 (GRCh37)
Canonical SPDI:: NC_000012.12:51095999:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51096000T>C, NC_000012.11:g.51489783T>C, NG_029908.1:g.82144A>G, NM_005653.5:c.1460A>G, NM_005653.4:c.1460A>G, NM_001173452.2:c.1460A>G, NM_001173452.1:c.1460A>G, NM_001173453.2:c.1307A>G, NM_001173453.1:c.1307A>G, NP_005644.2:p.Asp487Gly, NP_001166923.1:p.Asp487Gly, NP_001166924.1:p.Asp436Gly

Select item 145277408213.

rs1452774082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:51099700 (GRCh38)
12:51493483 (GRCh37)
Canonical SPDI:: NC_000012.12:51099699:G:A
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51099700G>A, NC_000012.11:g.51493483G>A, NG_029908.1:g.78444C>T, NM_005653.5:c.1231C>T, NM_005653.4:c.1231C>T, NM_001173452.2:c.1231C>T, NM_001173452.1:c.1231C>T, NM_001173453.2:c.1078C>T, NM_001173453.1:c.1078C>T, NP_005644.2:p.Gln411Ter, NP_001166923.1:p.Gln411Ter, NP_001166924.1:p.Gln360Ter

Select item 144713999414.

rs1447139994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:51117683 (GRCh38)
12:51511466 (GRCh37)
Canonical SPDI:: NC_000012.12:51117682:G:A,NC_000012.12:51117682:G:T
Gene:: TFCP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51117683G>A, NC_000012.12:g.51117683G>T, NC_000012.11:g.51511466G>A, NC_000012.11:g.51511466G>T, NG_029908.1:g.60461C>T, NG_029908.1:g.60461C>A, NM_005653.5:c.339C>T, NM_005653.5:c.339C>A, NM_005653.4:c.339C>T, NM_005653.4:c.339C>A, NM_001173452.2:c.339C>T, NM_001173452.2:c.339C>A, NM_001173452.1:c.339C>T, NM_001173452.1:c.339C>A, NM_001173453.2:c.339C>T, NM_001173453.2:c.339C>A, NM_001173453.1:c.339C>T, NM_001173453.1:c.339C>A

Select item 143876190315.

rs1438761903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:51107264 (GRCh38)
12:51501047 (GRCh37)
Canonical SPDI:: NC_000012.12:51107263:G:A
Gene:: TFCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51107264G>A, NC_000012.11:g.51501047G>A, NG_029908.1:g.70880C>T, NM_005653.5:c.800C>T, NM_005653.4:c.800C>T, NM_001173452.2:c.800C>T, NM_001173452.1:c.800C>T, NM_001173453.2:c.647C>T, NM_001173453.1:c.647C>T, NP_005644.2:p.Pro267Leu, NP_001166923.1:p.Pro267Leu, NP_001166924.1:p.Pro216Leu

Select item 143856199616.

rs1438561996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:51099719 (GRCh38)
12:51493502 (GRCh37)
Canonical SPDI:: NC_000012.12:51099718:C:T
Gene:: TFCP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51099719C>T, NC_000012.11:g.51493502C>T, NG_029908.1:g.78425G>A, NM_005653.5:c.1212G>A, NM_005653.4:c.1212G>A, NM_001173452.2:c.1212G>A, NM_001173452.1:c.1212G>A, NM_001173453.2:c.1059G>A, NM_001173453.1:c.1059G>A

Select item 143772204317.

rs1437722043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:51095989 (GRCh38)
12:51489772 (GRCh37)
Canonical SPDI:: NC_000012.12:51095988:C:T
Gene:: TFCP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.51095989C>T, NC_000012.11:g.51489772C>T, NG_029908.1:g.82155G>A, NM_005653.5:c.1471G>A, NM_005653.4:c.1471G>A, NM_001173452.2:c.1471G>A, NM_001173452.1:c.1471G>A, NM_001173453.2:c.1318G>A, NM_001173453.1:c.1318G>A, NP_005644.2:p.Ala491Thr, NP_001166923.1:p.Glu491Lys, NP_001166924.1:p.Glu440Lys

Select item 143633685918.

rs1436336859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51116390 (GRCh38)
12:51510173 (GRCh37)
Canonical SPDI:: NC_000012.12:51116389:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.51116390T>C, NC_000012.11:g.51510173T>C, NG_029908.1:g.61754A>G, NM_005653.5:c.382A>G, NM_005653.4:c.382A>G, NM_001173452.2:c.382A>G, NM_001173452.1:c.382A>G, NM_001173453.2:c.382A>G, NM_001173453.1:c.382A>G, NP_005644.2:p.Arg128Gly, NP_001166923.1:p.Arg128Gly, NP_001166924.1:p.Arg128Gly

Select item 143631997319.

rs1436319973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51117687 (GRCh38)
12:51511470 (GRCh37)
Canonical SPDI:: NC_000012.12:51117686:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.51117687T>C, NC_000012.11:g.51511470T>C, NG_029908.1:g.60457A>G, NM_005653.5:c.335A>G, NM_005653.4:c.335A>G, NM_001173452.2:c.335A>G, NM_001173452.1:c.335A>G, NM_001173453.2:c.335A>G, NM_001173453.1:c.335A>G, NP_005644.2:p.Asn112Ser, NP_001166923.1:p.Asn112Ser, NP_001166924.1:p.Asn112Ser

Select item 143091369320.

rs1430913693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:51103745 (GRCh38)
12:51497528 (GRCh37)
Canonical SPDI:: NC_000012.12:51103744:T:C
Gene:: TFCP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.51103745T>C, NC_000012.11:g.51497528T>C, NG_029908.1:g.74399A>G, NM_005653.5:c.985A>G, NM_005653.4:c.985A>G, NM_001173452.2:c.985A>G, NM_001173452.1:c.985A>G, NM_001173453.2:c.832A>G, NM_001173453.1:c.832A>G, NP_005644.2:p.Thr329Ala, NP_001166923.1:p.Thr329Ala, NP_001166924.1:p.Thr278Ala

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