SNP Links for Protein (Select 324021727) - SNP

Links from Protein

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Select item 14902752591.

rs1490275259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124314298 (GRCh38)
12:124798844 (GRCh37)
Canonical SPDI:: NC_000012.12:124314297:C:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.124314298C>T, NC_000012.11:g.124798844C>T, NM_181709.5:c.181C>T, NM_181709.4:c.181C>T, NM_001204299.3:c.181C>T, NM_001204299.2:c.181C>T, NM_001204299.1:c.181C>T, NM_001347902.2:c.181C>T, NM_001347902.1:c.181C>T, NM_001365156.1:c.424C>T, NP_859060.3:p.Pro61Ser, NP_001191228.1:p.Pro61Ser, NP_001334831.1:p.Pro61Ser, NP_001352085.1:p.Pro142Ser

Select item 14897553682.

rs1489755368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:124311889 (GRCh38)
12:124796435 (GRCh37)
Canonical SPDI:: NC_000012.12:124311888:G:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124311889G>A, NC_000012.11:g.124796435G>A, NM_181709.5:c.36G>A, NM_181709.4:c.36G>A, NM_001204299.3:c.36G>A, NM_001204299.2:c.36G>A, NM_001204299.1:c.36G>A, NM_001347902.2:c.36G>A, NM_001347902.1:c.36G>A, NM_001365156.1:c.279G>A

Select item 14840670573.

rs1484067057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:124314452 (GRCh38)
12:124798998 (GRCh37)
Canonical SPDI:: NC_000012.12:124314451:G:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124314452G>A, NC_000012.11:g.124798998G>A, NM_181709.5:c.335G>A, NM_181709.4:c.335G>A, NM_001204299.3:c.335G>A, NM_001204299.2:c.335G>A, NM_001204299.1:c.335G>A, NM_001347902.2:c.335G>A, NM_001347902.1:c.335G>A, NM_001365156.1:c.578G>A, NP_859060.3:p.Trp112Ter, NP_001191228.1:p.Trp112Ter, NP_001334831.1:p.Trp112Ter, NP_001352085.1:p.Trp193Ter

Select item 14796658774.

rs1479665877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:124311912 (GRCh38)
12:124796458 (GRCh37)
Canonical SPDI:: NC_000012.12:124311911:C:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000012.12:g.124311912C>A, NC_000012.11:g.124796458C>A, NM_181709.5:c.59C>A, NM_181709.4:c.59C>A, NM_001204299.3:c.59C>A, NM_001204299.2:c.59C>A, NM_001204299.1:c.59C>A, NM_001347902.2:c.59C>A, NM_001347902.1:c.59C>A, NM_001365156.1:c.302C>A, NP_859060.3:p.Pro20His, NP_001191228.1:p.Pro20His, NP_001334831.1:p.Pro20His, NP_001352085.1:p.Pro101His

Select item 14796481725.

rs1479648172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124314350 (GRCh38)
12:124798896 (GRCh37)
Canonical SPDI:: NC_000012.12:124314349:C:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.124314350C>T, NC_000012.11:g.124798896C>T, NM_181709.5:c.233C>T, NM_181709.4:c.233C>T, NM_001204299.3:c.233C>T, NM_001204299.2:c.233C>T, NM_001204299.1:c.233C>T, NM_001347902.2:c.233C>T, NM_001347902.1:c.233C>T, NM_001365156.1:c.476C>T, NP_859060.3:p.Pro78Leu, NP_001191228.1:p.Pro78Leu, NP_001334831.1:p.Pro78Leu, NP_001352085.1:p.Pro159Leu

Select item 14796264516.

rs1479626451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:124314470 (GRCh38)
12:124799016 (GRCh37)
Canonical SPDI:: NC_000012.12:124314469:A:C,NC_000012.12:124314469:A:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.124314470A>C, NC_000012.12:g.124314470A>T, NC_000012.11:g.124799016A>C, NC_000012.11:g.124799016A>T, NM_181709.5:c.353A>C, NM_181709.5:c.353A>T, NM_181709.4:c.353A>C, NM_181709.4:c.353A>T, NM_001204299.3:c.353A>C, NM_001204299.3:c.353A>T, NM_001204299.2:c.353A>C, NM_001204299.2:c.353A>T, NM_001204299.1:c.353A>C, NM_001204299.1:c.353A>T, NM_001347902.2:c.353A>C, NM_001347902.2:c.353A>T, NM_001347902.1:c.353A>C, NM_001347902.1:c.353A>T, NM_001365156.1:c.596A>C, NM_001365156.1:c.596A>T, NP_859060.3:p.Gln118Pro, NP_859060.3:p.Gln118Leu, NP_001191228.1:p.Gln118Pro, NP_001191228.1:p.Gln118Leu, NP_001334831.1:p.Gln118Pro, NP_001334831.1:p.Gln118Leu, NP_001352085.1:p.Gln199Pro, NP_001352085.1:p.Gln199Leu

Select item 14785767567.

rs1478576756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:124314423 (GRCh38)
12:124798969 (GRCh37)
Canonical SPDI:: NC_000012.12:124314422:G:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.124314423G>T, NC_000012.11:g.124798969G>T, NM_181709.5:c.306G>T, NM_181709.4:c.306G>T, NM_001204299.3:c.306G>T, NM_001204299.2:c.306G>T, NM_001204299.1:c.306G>T, NM_001347902.2:c.306G>T, NM_001347902.1:c.306G>T, NM_001365156.1:c.549G>T

Select item 14772733538.

rs1477273353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:124314460 (GRCh38)
12:124799006 (GRCh37)
Canonical SPDI:: NC_000012.12:124314459:G:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.124314460G>A, NC_000012.11:g.124799006G>A, NM_181709.5:c.343G>A, NM_181709.4:c.343G>A, NM_001204299.3:c.343G>A, NM_001204299.2:c.343G>A, NM_001204299.1:c.343G>A, NM_001347902.2:c.343G>A, NM_001347902.1:c.343G>A, NM_001365156.1:c.586G>A, NP_859060.3:p.Ala115Thr, NP_001191228.1:p.Ala115Thr, NP_001334831.1:p.Ala115Thr, NP_001352085.1:p.Ala196Thr

Select item 14589266749.

rs1458926674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:124311865 (GRCh38)
12:124796411 (GRCh37)
Canonical SPDI:: NC_000012.12:124311864:G:C,NC_000012.12:124311864:G:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.124311865G>C, NC_000012.12:g.124311865G>T, NC_000012.11:g.124796411G>C, NC_000012.11:g.124796411G>T, NM_181709.5:c.12G>C, NM_181709.5:c.12G>T, NM_181709.4:c.12G>C, NM_181709.4:c.12G>T, NM_001204299.3:c.12G>C, NM_001204299.3:c.12G>T, NM_001204299.2:c.12G>C, NM_001204299.2:c.12G>T, NM_001204299.1:c.12G>C, NM_001204299.1:c.12G>T, NM_001347902.2:c.12G>C, NM_001347902.2:c.12G>T, NM_001347902.1:c.12G>C, NM_001347902.1:c.12G>T, NM_001365156.1:c.255G>C, NM_001365156.1:c.255G>T

Select item 145021336310.

rs1450213363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:124314437 (GRCh38)
12:124798983 (GRCh37)
Canonical SPDI:: NC_000012.12:124314436:G:C
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124314437G>C, NC_000012.11:g.124798983G>C, NM_181709.5:c.320G>C, NM_181709.4:c.320G>C, NM_001204299.3:c.320G>C, NM_001204299.2:c.320G>C, NM_001204299.1:c.320G>C, NM_001347902.2:c.320G>C, NM_001347902.1:c.320G>C, NM_001365156.1:c.563G>C, NP_859060.3:p.Gly107Ala, NP_001191228.1:p.Gly107Ala, NP_001334831.1:p.Gly107Ala, NP_001352085.1:p.Gly188Ala

Select item 144742712511.

rs1447427125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:124314295 (GRCh38)
12:124798841 (GRCh37)
Canonical SPDI:: NC_000012.12:124314294:G:C
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.124314295G>C, NC_000012.11:g.124798841G>C, NM_181709.5:c.178G>C, NM_181709.4:c.178G>C, NM_001204299.3:c.178G>C, NM_001204299.2:c.178G>C, NM_001204299.1:c.178G>C, NM_001347902.2:c.178G>C, NM_001347902.1:c.178G>C, NM_001365156.1:c.421G>C, NP_859060.3:p.Ala60Pro, NP_001191228.1:p.Ala60Pro, NP_001334831.1:p.Ala60Pro, NP_001352085.1:p.Ala141Pro

Select item 144185219712.

rs1441852197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124314363 (GRCh38)
12:124798909 (GRCh37)
Canonical SPDI:: NC_000012.12:124314362:C:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124314363C>T, NC_000012.11:g.124798909C>T, NM_181709.5:c.246C>T, NM_181709.4:c.246C>T, NM_001204299.3:c.246C>T, NM_001204299.2:c.246C>T, NM_001204299.1:c.246C>T, NM_001347902.2:c.246C>T, NM_001347902.1:c.246C>T, NM_001365156.1:c.489C>T

Select item 142333602313.

rs1423336023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124314269 (GRCh38)
12:124798815 (GRCh37)
Canonical SPDI:: NC_000012.12:124314268:C:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.124314269C>T, NC_000012.11:g.124798815C>T, NM_181709.5:c.152C>T, NM_181709.4:c.152C>T, NM_001204299.3:c.152C>T, NM_001204299.2:c.152C>T, NM_001204299.1:c.152C>T, NM_001347902.2:c.152C>T, NM_001347902.1:c.152C>T, NM_001365156.1:c.395C>T, NP_859060.3:p.Thr51Met, NP_001191228.1:p.Thr51Met, NP_001334831.1:p.Thr51Met, NP_001352085.1:p.Thr132Met

Select item 140559095314.

rs1405590953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:124314360 (GRCh38)
12:124798906 (GRCh37)
Canonical SPDI:: NC_000012.12:124314359:G:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124314360G>A, NC_000012.11:g.124798906G>A, NM_181709.5:c.243G>A, NM_181709.4:c.243G>A, NM_001204299.3:c.243G>A, NM_001204299.2:c.243G>A, NM_001204299.1:c.243G>A, NM_001347902.2:c.243G>A, NM_001347902.1:c.243G>A, NM_001365156.1:c.486G>A

Select item 140082371715.

rs1400823717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124314491 (GRCh38)
12:124799037 (GRCh37)
Canonical SPDI:: NC_000012.12:124314490:C:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124314491C>T, NC_000012.11:g.124799037C>T, NM_181709.5:c.374C>T, NM_181709.4:c.374C>T, NM_001204299.3:c.374C>T, NM_001204299.2:c.374C>T, NM_001204299.1:c.374C>T, NM_001347902.2:c.374C>T, NM_001347902.1:c.374C>T, NM_001365156.1:c.617C>T, NP_859060.3:p.Pro125Leu, NP_001191228.1:p.Pro125Leu, NP_001334831.1:p.Pro125Leu, NP_001352085.1:p.Pro206Leu

Select item 138951664516.

rs1389516645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:124314513 (GRCh38)
12:124799059 (GRCh37)
Canonical SPDI:: NC_000012.12:124314512:T:C
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124314513T>C, NC_000012.11:g.124799059T>C, NM_181709.5:c.396T>C, NM_181709.4:c.396T>C, NM_001204299.3:c.396T>C, NM_001204299.2:c.396T>C, NM_001204299.1:c.396T>C, NM_001347902.2:c.396T>C, NM_001347902.1:c.396T>C, NM_001365156.1:c.639T>C

Select item 138427158317.

rs1384271583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:124314355 (GRCh38)
12:124798901 (GRCh37)
Canonical SPDI:: NC_000012.12:124314354:G:A,NC_000012.12:124314354:G:T
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.124314355G>A, NC_000012.12:g.124314355G>T, NC_000012.11:g.124798901G>A, NC_000012.11:g.124798901G>T, NM_181709.5:c.238G>A, NM_181709.5:c.238G>T, NM_181709.4:c.238G>A, NM_181709.4:c.238G>T, NM_001204299.3:c.238G>A, NM_001204299.3:c.238G>T, NM_001204299.2:c.238G>A, NM_001204299.2:c.238G>T, NM_001204299.1:c.238G>A, NM_001204299.1:c.238G>T, NM_001347902.2:c.238G>A, NM_001347902.2:c.238G>T, NM_001347902.1:c.238G>A, NM_001347902.1:c.238G>T, NM_001365156.1:c.481G>A, NM_001365156.1:c.481G>T, NP_859060.3:p.Ala80Thr, NP_859060.3:p.Ala80Ser, NP_001191228.1:p.Ala80Thr, NP_001191228.1:p.Ala80Ser, NP_001334831.1:p.Ala80Thr, NP_001334831.1:p.Ala80Ser, NP_001352085.1:p.Ala161Thr, NP_001352085.1:p.Ala161Ser

Select item 138344725018.

rs1383447250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124311910 (GRCh38)
12:124796456 (GRCh37)
Canonical SPDI:: NC_000012.12:124311909:A:G
Gene:: RFLNA (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.124311910A>G, NC_000012.11:g.124796456A>G, NM_181709.5:c.57A>G, NM_181709.4:c.57A>G, NM_001204299.3:c.57A>G, NM_001204299.2:c.57A>G, NM_001204299.1:c.57A>G, NM_001347902.2:c.57A>G, NM_001347902.1:c.57A>G, NM_001365156.1:c.300A>G

Select item 137096015919.

rs1370960159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:124314266 (GRCh38)
12:124798812 (GRCh37)
Canonical SPDI:: NC_000012.12:124314265:T:C
Gene:: RFLNA (Varview), ZNF664-RFLNA (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124314266T>C, NC_000012.11:g.124798812T>C, NM_181709.5:c.149T>C, NM_181709.4:c.149T>C, NM_001204299.3:c.149T>C, NM_001204299.2:c.149T>C, NM_001204299.1:c.149T>C, NM_001347902.2:c.149T>C, NM_001347902.1:c.149T>C, NM_001365156.1:c.392T>C, NP_859060.3:p.Val50Ala, NP_001191228.1:p.Val50Ala, NP_001334831.1:p.Val50Ala, NP_001352085.1:p.Val131Ala

Select item 135917801520.

rs1359178015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:124314243 (GRCh38)
12:124798789 (GRCh37)
Canonical SPDI:: NC_000012.12:124314242:C:A
Gene:: RFLNA (Varview), ZNF664-RFLNA (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)
HGVS:: NC_000012.12:g.124314243C>A, NC_000012.11:g.124798789C>A, NM_181709.5:c.126C>A, NM_181709.4:c.126C>A, NM_001204299.3:c.126C>A, NM_001204299.2:c.126C>A, NM_001204299.1:c.126C>A, NM_001347902.2:c.126C>A, NM_001347902.1:c.126C>A, NM_001365156.1:c.369C>A

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