SNP Links for Protein (Select 209571537) - SNP

Links from Protein

Items: 1 to 20 of 726

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Select item 14905526531.

rs1490552653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:11393376 (GRCh38)
12:11546310 (GRCh37)
Canonical SPDI:: NC_000012.12:11393375:A:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11393376A>T, NC_000012.11:g.11546310A>T, NM_006248.4:c.702T>A, NM_006248.3:c.702T>A, NM_001367912.1:c.702T>A, NM_001367912.2:c.702T>A, NP_006239.3:p.Ser234Arg

Select item 14890770682.

rs1489077068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:11393153 (GRCh38)
12:11546087 (GRCh37)
Canonical SPDI:: NC_000012.12:11393152:G:C
Gene:: PRB2 (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.11393153G>C, NC_000012.11:g.11546087G>C, NM_006248.4:c.925C>G, NM_006248.3:c.925C>G, NM_001367912.1:c.922C>G, NM_001367912.2:c.922C>G, NP_006239.3:p.Pro309Ala

Select item 14870590943.

rs1487059094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:11393601 (GRCh38)
12:11546535 (GRCh37)
Canonical SPDI:: NC_000012.12:11393600:T:A
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.11393601T>A, NC_000012.11:g.11546535T>A, NM_006248.4:c.477A>T, NM_006248.3:c.477A>T, NM_001367912.1:c.477A>T, NM_001367912.2:c.477A>T

Select item 14857971924.

rs1485797192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11393931 (GRCh38)
12:11546865 (GRCh37)
Canonical SPDI:: NC_000012.12:11393930:A:G
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.000034/4 (ExAC)
G=0.001132/19 (TOMMO)
G=0.006845/20 (KOREAN)
HGVS:: NC_000012.12:g.11393931A>G, NC_000012.11:g.11546865A>G, NM_006248.4:c.147T>C, NM_006248.3:c.147T>C, NM_001367912.1:c.147T>C, NM_001367912.2:c.147T>C

Select item 14847610475.

rs1484761047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11395471 (GRCh38)
12:11548405 (GRCh37)
Canonical SPDI:: NC_000012.12:11395470:T:C
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11395471T>C, NC_000012.11:g.11548405T>C, NM_006248.4:c.59A>G, NM_006248.3:c.59A>G, NM_001367912.1:c.59A>G, NM_001367912.2:c.59A>G, NP_006239.3:p.Asn20Ser

Select item 14800801836.

rs1480080183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11393591 (GRCh38)
12:11546525 (GRCh37)
Canonical SPDI:: NC_000012.12:11393590:G:A,NC_000012.12:11393590:G:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.11393591G>A, NC_000012.12:g.11393591G>T, NC_000012.11:g.11546525G>A, NC_000012.11:g.11546525G>T, NM_006248.4:c.487C>T, NM_006248.4:c.487C>A, NM_006248.3:c.487C>T, NM_006248.3:c.487C>A, NM_001367912.1:c.487C>T, NM_001367912.1:c.487C>A, NM_001367912.2:c.487C>T, NM_001367912.2:c.487C>A, NP_006239.3:p.Pro163Ser, NP_006239.3:p.Pro163Thr

Select item 14800790267.

rs1480079026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:11393096 (GRCh38)
12:11546030 (GRCh37)
Canonical SPDI:: NC_000012.12:11393095:G:C
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11393096G>C, NC_000012.11:g.11546030G>C, NM_006248.4:c.982C>G, NM_006248.3:c.982C>G, NM_001367912.1:c.979C>G, NM_001367912.2:c.979C>G, NP_006239.3:p.Pro328Ala

Select item 14782162888.

rs1478216288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:11393799 (GRCh38)
12:11546733 (GRCh37)
Canonical SPDI:: NC_000012.12:11393798:T:A
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00018/3 (TOMMO)
HGVS:: NC_000012.12:g.11393799T>A, NC_000012.11:g.11546733T>A, NM_006248.4:c.279A>T, NM_006248.3:c.279A>T, NM_001367912.1:c.279A>T, NM_001367912.2:c.279A>T

Select item 14776620429.

rs1477662042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11395486 (GRCh38)
12:11548420 (GRCh37)
Canonical SPDI:: NC_000012.12:11395485:G:A,NC_000012.12:11395485:G:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
HGVS:: NC_000012.12:g.11395486G>A, NC_000012.12:g.11395486G>T, NC_000012.11:g.11548420G>A, NC_000012.11:g.11548420G>T, NM_006248.4:c.44C>T, NM_006248.4:c.44C>A, NM_006248.3:c.44C>T, NM_006248.3:c.44C>A, NM_001367912.1:c.44C>T, NM_001367912.1:c.44C>A, NM_001367912.2:c.44C>T, NM_001367912.2:c.44C>A, NP_006239.3:p.Ser15Leu, NP_006239.3:p.Ser15Ter

Select item 147680691110.

rs1476806911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:11393565 (GRCh38)
12:11546499 (GRCh37)
Canonical SPDI:: NC_000012.12:11393564:T:G
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11393565T>G, NC_000012.11:g.11546499T>G, NM_006248.4:c.513A>C, NM_006248.3:c.513A>C, NM_001367912.1:c.513A>C, NM_001367912.2:c.513A>C

Select item 147138186111.

rs1471381861 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>- [Show Flanks]
Chromosome:: 12:11393865 (GRCh38)
12:11546799 (GRCh37)
Canonical SPDI:: NC_000012.12:11393862:GGGGG:GG
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by cluster
HGVS:: NC_000012.12:g.11393865_11393867del, NC_000012.11:g.11546799_11546801del, NM_006248.4:c.213_215del, NM_006248.3:c.213_215del, NM_001367912.1:c.213_215del, NM_001367912.2:c.213_215del, NP_006239.3:p.Pro75del

Select item 147053605712.

rs1470536057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:11393771 (GRCh38)
12:11546705 (GRCh37)
Canonical SPDI:: NC_000012.12:11393770:G:A,NC_000012.12:11393770:G:C
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.11393771G>A, NC_000012.12:g.11393771G>C, NC_000012.11:g.11546705G>A, NC_000012.11:g.11546705G>C, NM_006248.4:c.307C>T, NM_006248.4:c.307C>G, NM_006248.3:c.307C>T, NM_006248.3:c.307C>G, NM_001367912.1:c.307C>T, NM_001367912.1:c.307C>G, NM_001367912.2:c.307C>T, NM_001367912.2:c.307C>G, NP_006239.3:p.Pro103Ser, NP_006239.3:p.Pro103Ala

Select item 147048519013.

rs1470485190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11393290 (GRCh38)
12:11546224 (GRCh37)
Canonical SPDI:: NC_000012.12:11393289:G:A
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11393290G>A, NC_000012.11:g.11546224G>A, NM_006248.4:c.788C>T, NM_006248.3:c.788C>T, NM_001367912.1:c.788C>T, NM_001367912.2:c.788C>T, NP_006239.3:p.Pro263Leu

Select item 146762300614.

rs1467623006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11393897 (GRCh38)
12:11546831 (GRCh37)
Canonical SPDI:: NC_000012.12:11393896:G:A,NC_000012.12:11393896:G:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.11393897G>A, NC_000012.12:g.11393897G>T, NC_000012.11:g.11546831G>A, NC_000012.11:g.11546831G>T, NM_006248.4:c.181C>T, NM_006248.4:c.181C>A, NM_006248.3:c.181C>T, NM_006248.3:c.181C>A, NM_001367912.1:c.181C>T, NM_001367912.1:c.181C>A, NM_001367912.2:c.181C>T, NM_001367912.2:c.181C>A, NP_006239.3:p.Pro61Ser, NP_006239.3:p.Pro61Thr

Select item 146753270315.

rs1467532703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11393958 (GRCh38)
12:11546892 (GRCh37)
Canonical SPDI:: NC_000012.12:11393957:G:A,NC_000012.12:11393957:G:T
Gene:: PRB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.11393958G>A, NC_000012.12:g.11393958G>T, NC_000012.11:g.11546892G>A, NC_000012.11:g.11546892G>T, NM_006248.4:c.120C>T, NM_006248.4:c.120C>A, NM_006248.3:c.120C>T, NM_006248.3:c.120C>A, NM_001367912.1:c.120C>T, NM_001367912.1:c.120C>A, NM_001367912.2:c.120C>T, NM_001367912.2:c.120C>A

Select item 146592446416.

rs1465924464 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:11393017 (GRCh38)
12:11545951 (GRCh37)
Canonical SPDI:: NC_000012.12:11393016:C:
Gene:: PRB2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000316/8 (ALFA)
-=0.000116/16 (GnomAD)
-=0.00092/15 (TOMMO)
HGVS:: NC_000012.12:g.11393017del, NC_000012.11:g.11545951del, NM_006248.4:c.1061del, NM_006248.3:c.1061del, NP_006239.3:p.Ser354fs

Select item 146537347817.

rs1465373478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11393720 (GRCh38)
12:11546654 (GRCh37)
Canonical SPDI:: NC_000012.12:11393719:C:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11393720C>T, NC_000012.11:g.11546654C>T, NM_006248.4:c.358G>A, NM_006248.3:c.358G>A, NM_001367912.1:c.358G>A, NM_001367912.2:c.358G>A, NP_006239.3:p.Gly120Arg

Select item 146391385418.

rs1463913854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11393956 (GRCh38)
12:11546890 (GRCh37)
Canonical SPDI:: NC_000012.12:11393955:G:A,NC_000012.12:11393955:G:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.11393956G>A, NC_000012.12:g.11393956G>T, NC_000012.11:g.11546890G>A, NC_000012.11:g.11546890G>T, NM_006248.4:c.122C>T, NM_006248.4:c.122C>A, NM_006248.3:c.122C>T, NM_006248.3:c.122C>A, NM_001367912.1:c.122C>T, NM_001367912.1:c.122C>A, NM_001367912.2:c.122C>T, NM_001367912.2:c.122C>A, NP_006239.3:p.Pro41Leu, NP_006239.3:p.Pro41Gln

Select item 146376550019.

rs1463765500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11393657 (GRCh38)
12:11546591 (GRCh37)
Canonical SPDI:: NC_000012.12:11393656:C:T
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.11393657C>T, NC_000012.11:g.11546591C>T, NM_006248.4:c.421G>A, NM_006248.3:c.421G>A, NM_001367912.1:c.421G>A, NM_001367912.2:c.421G>A, NP_006239.3:p.Gly141Arg

Select item 146191112220.

rs1461911122 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGA,AGATCGAGAACT [Show Flanks]
Chromosome:: 12:11393243 (GRCh38)
12:11546178 (GRCh37)
Canonical SPDI:: NC_000012.12:11393243::AGA,NC_000012.12:11393243::AGATCGAGAACT
Gene:: PRB2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AGATCGAGAACT=0.00001/1 (GnomAD)
AGA=0.00033/9 (TOMMO)
HGVS:: NC_000012.12:g.11393243_11393244insAGA, NC_000012.12:g.11393243_11393244insAGATCGAGAACT, NC_000012.11:g.11546177_11546178insAGA, NC_000012.11:g.11546177_11546178insAGATCGAGAACT, NM_006248.4:c.834_835insTCT, NM_006248.4:c.834_835insAGTTCTCGATCT, NM_006248.3:c.834_835insTCT, NM_006248.3:c.834_835insAGTTCTCGATCT, NM_001367912.1:c.834_835insTCT, NM_001367912.1:c.834_835insAGTTCTCGATCT, NM_001367912.2:c.834_835insTCT, NM_001367912.2:c.834_835insAGTTCTCGATCT, NP_006239.3:p.Pro279_Pro280insSer, NP_006239.3:p.Pro279_Pro280insSerSerArgSer

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