SNP Links for Protein (Select 148806884) - SNP

Links from Protein

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Select item 14907920451.

rs1490792045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49870027 (GRCh38)
19:50373284 (GRCh37)
Canonical SPDI:: NC_000019.10:49870026:T:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49870027T>C, NC_000019.9:g.50373284T>C, NG_027717.1:g.2539A>G, NM_032375.5:c.721A>G, NM_001098633.4:c.661A>G, NM_001098633.3:c.661A>G, NM_001278159.2:c.661A>G, NM_001278159.1:c.661A>G, NM_001098632.2:c.661A>G, NM_001278160.2:c.661A>G, NM_001278160.1:c.661A>G, NP_115751.3:p.Ser241Gly, NP_001092103.1:p.Ser221Gly, NP_001265088.1:p.Ser221Gly, NP_001092102.1:p.Ser221Gly, NP_001265089.1:p.Ser221Gly

Select item 14897215642.

rs1489721564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49870040 (GRCh38)
19:50373297 (GRCh37)
Canonical SPDI:: NC_000019.10:49870039:G:A,NC_000019.10:49870039:G:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.49870040G>A, NC_000019.10:g.49870040G>C, NC_000019.9:g.50373297G>A, NC_000019.9:g.50373297G>C, NG_027717.1:g.2526C>T, NG_027717.1:g.2526C>G, NM_032375.5:c.708C>T, NM_032375.5:c.708C>G, NM_001098633.4:c.648C>T, NM_001098633.4:c.648C>G, NM_001098633.3:c.648C>T, NM_001098633.3:c.648C>G, NM_001278159.2:c.648C>T, NM_001278159.2:c.648C>G, NM_001278159.1:c.648C>T, NM_001278159.1:c.648C>G, NM_001098632.2:c.648C>T, NM_001098632.2:c.648C>G, NM_001278160.2:c.648C>T, NM_001278160.2:c.648C>G, NM_001278160.1:c.648C>T, NM_001278160.1:c.648C>G, NP_115751.3:p.Asp236Glu, NP_001092103.1:p.Asp216Glu, NP_001265088.1:p.Asp216Glu, NP_001092102.1:p.Asp216Glu, NP_001265089.1:p.Asp216Glu

Select item 14874453133.

rs1487445313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49873089 (GRCh38)
19:50376346 (GRCh37)
Canonical SPDI:: NC_000019.10:49873088:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49873089G>A, NC_000019.9:g.50376346G>A, NM_032375.5:c.267C>T, NM_001098633.4:c.207C>T, NM_001098633.3:c.207C>T, NM_001278159.2:c.207C>T, NM_001278159.1:c.207C>T, NM_001098632.2:c.207C>T, NM_001278160.2:c.207C>T, NM_001278160.1:c.207C>T

Select item 14863415184.

rs1486341518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:49871681 (GRCh38)
19:50374938 (GRCh37)
Canonical SPDI:: NC_000019.10:49871680:G:A,NC_000019.10:49871680:G:C,NC_000019.10:49871680:G:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49871681G>A, NC_000019.10:g.49871681G>C, NC_000019.10:g.49871681G>T, NC_000019.9:g.50374938G>A, NC_000019.9:g.50374938G>C, NC_000019.9:g.50374938G>T, NG_027717.1:g.885C>T, NG_027717.1:g.885C>G, NG_027717.1:g.885C>A, NM_032375.5:c.553C>T, NM_032375.5:c.553C>G, NM_032375.5:c.553C>A, NM_001098633.4:c.493C>T, NM_001098633.4:c.493C>G, NM_001098633.4:c.493C>A, NM_001098633.3:c.493C>T, NM_001098633.3:c.493C>G, NM_001098633.3:c.493C>A, NM_001278159.2:c.493C>T, NM_001278159.2:c.493C>G, NM_001278159.2:c.493C>A, NM_001278159.1:c.493C>T, NM_001278159.1:c.493C>G, NM_001278159.1:c.493C>A, NM_001098632.2:c.493C>T, NM_001098632.2:c.493C>G, NM_001098632.2:c.493C>A, NM_001278160.2:c.493C>T, NM_001278160.2:c.493C>G, NM_001278160.2:c.493C>A, NM_001278160.1:c.493C>T, NM_001278160.1:c.493C>G, NM_001278160.1:c.493C>A, NP_115751.3:p.Pro185Ser, NP_115751.3:p.Pro185Ala, NP_115751.3:p.Pro185Thr, NP_001092103.1:p.Pro165Ser, NP_001092103.1:p.Pro165Ala, NP_001092103.1:p.Pro165Thr, NP_001265088.1:p.Pro165Ser, NP_001265088.1:p.Pro165Ala, NP_001265088.1:p.Pro165Thr, NP_001092102.1:p.Pro165Ser, NP_001092102.1:p.Pro165Ala, NP_001092102.1:p.Pro165Thr, NP_001265089.1:p.Pro165Ser, NP_001265089.1:p.Pro165Ala, NP_001265089.1:p.Pro165Thr

Select item 14861621625.

rs1486162162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49869961 (GRCh38)
19:50373218 (GRCh37)
Canonical SPDI:: NC_000019.10:49869960:G:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49869961G>T, NC_000019.9:g.50373218G>T, NG_027717.1:g.2605C>A, NM_032375.5:c.787C>A, NM_001098633.4:c.727C>A, NM_001098633.3:c.727C>A, NM_001278159.2:c.727C>A, NM_001278159.1:c.727C>A, NM_001098632.2:c.727C>A, NM_001278160.2:c.727C>A, NM_001278160.1:c.727C>A

Select item 14828944806.

rs1482894480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49871827 (GRCh38)
19:50375084 (GRCh37)
Canonical SPDI:: NC_000019.10:49871826:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49871827G>A, NC_000019.9:g.50375084G>A, NG_027717.1:g.739C>T, NM_032375.5:c.502C>T, NM_001098633.4:c.442C>T, NM_001098633.3:c.442C>T, NM_001278159.2:c.442C>T, NM_001278159.1:c.442C>T, NM_001098632.2:c.442C>T, NM_001278160.2:c.442C>T, NM_001278160.1:c.442C>T, NP_115751.3:p.Pro168Ser, NP_001092103.1:p.Pro148Ser, NP_001265088.1:p.Pro148Ser, NP_001092102.1:p.Pro148Ser, NP_001265089.1:p.Pro148Ser

Select item 14812696877.

rs1481269687 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:49869965 (GRCh38)
19:50373222 (GRCh37)
Canonical SPDI:: NC_000019.10:49869964:CC:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49869966del, NC_000019.9:g.50373223del, NG_027717.1:g.2601del, NM_032375.5:c.783del, NM_001098633.4:c.723del, NM_001098633.3:c.723del, NM_001278159.2:c.723del, NM_001278159.1:c.723del, NM_001098632.2:c.723del, NM_001278160.2:c.723del, NM_001278160.1:c.723del, NP_115751.3:p.Pro262fs, NP_001092103.1:p.Pro242fs, NP_001265088.1:p.Pro242fs, NP_001092102.1:p.Pro242fs, NP_001265089.1:p.Pro242fs

Select item 14801838628.

rs1480183862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49871594 (GRCh38)
19:50374851 (GRCh37)
Canonical SPDI:: NC_000019.10:49871593:T:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49871594T>C, NC_000019.9:g.50374851T>C, NG_027717.1:g.972A>G, NM_032375.5:c.640A>G, NM_001098633.4:c.580A>G, NM_001098633.3:c.580A>G, NM_001278159.2:c.580A>G, NM_001278159.1:c.580A>G, NM_001098632.2:c.580A>G, NM_001278160.2:c.580A>G, NM_001278160.1:c.580A>G, NP_115751.3:p.Lys214Glu, NP_001092103.1:p.Lys194Glu, NP_001265088.1:p.Lys194Glu, NP_001092102.1:p.Lys194Glu, NP_001265089.1:p.Lys194Glu

Select item 14777272679.

rs1477727267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49873096 (GRCh38)
19:50376353 (GRCh37)
Canonical SPDI:: NC_000019.10:49873095:A:G
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49873096A>G, NC_000019.9:g.50376353A>G, NM_032375.5:c.260T>C, NM_001098633.4:c.200T>C, NM_001098633.3:c.200T>C, NM_001278159.2:c.200T>C, NM_001278159.1:c.200T>C, NM_001098632.2:c.200T>C, NM_001278160.2:c.200T>C, NM_001278160.1:c.200T>C, NP_115751.3:p.Leu87Pro, NP_001092103.1:p.Leu67Pro, NP_001265088.1:p.Leu67Pro, NP_001092102.1:p.Leu67Pro, NP_001265089.1:p.Leu67Pro

Select item 147228147910.

rs1472281479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49873214 (GRCh38)
19:50376471 (GRCh37)
Canonical SPDI:: NC_000019.10:49873213:G:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49873214G>C, NC_000019.9:g.50376471G>C, NM_032375.5:c.142C>G, NM_001098633.4:c.82C>G, NM_001098633.3:c.82C>G, NM_001278159.2:c.82C>G, NM_001278159.1:c.82C>G, NM_001098632.2:c.82C>G, NM_001278160.2:c.82C>G, NM_001278160.1:c.82C>G, NP_115751.3:p.Leu48Val, NP_001092103.1:p.Leu28Val, NP_001265088.1:p.Leu28Val, NP_001092102.1:p.Leu28Val, NP_001265089.1:p.Leu28Val

Select item 147054209511.

rs1470542095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49871675 (GRCh38)
19:50374932 (GRCh37)
Canonical SPDI:: NC_000019.10:49871674:A:G
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49871675A>G, NC_000019.9:g.50374932A>G, NG_027717.1:g.891T>C, NM_032375.5:c.559T>C, NM_001098633.4:c.499T>C, NM_001098633.3:c.499T>C, NM_001278159.2:c.499T>C, NM_001278159.1:c.499T>C, NM_001098632.2:c.499T>C, NM_001278160.2:c.499T>C, NM_001278160.1:c.499T>C, NP_115751.3:p.Cys187Arg, NP_001092103.1:p.Cys167Arg, NP_001265088.1:p.Cys167Arg, NP_001092102.1:p.Cys167Arg, NP_001265089.1:p.Cys167Arg

Select item 146805757012.

rs1468057570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49873279 (GRCh38)
19:50376536 (GRCh37)
Canonical SPDI:: NC_000019.10:49873278:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49873279G>A, NC_000019.9:g.50376536G>A, NM_032375.5:c.77C>T, NM_001098633.4:c.17C>T, NM_001098633.3:c.17C>T, NM_001278159.2:c.17C>T, NM_001278159.1:c.17C>T, NM_001098632.2:c.17C>T, NM_001278160.2:c.17C>T, NM_001278160.1:c.17C>T, NP_115751.3:p.Pro26Leu, NP_001092103.1:p.Pro6Leu, NP_001265088.1:p.Pro6Leu, NP_001092102.1:p.Pro6Leu, NP_001265089.1:p.Pro6Leu

Select item 146472878713.

rs1464728787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49869960 (GRCh38)
19:50373217 (GRCh37)
Canonical SPDI:: NC_000019.10:49869959:C:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49869960C>T, NC_000019.9:g.50373217C>T, NG_027717.1:g.2606G>A, NM_032375.5:c.788G>A, NM_001098633.4:c.728G>A, NM_001098633.3:c.728G>A, NM_001278159.2:c.728G>A, NM_001278159.1:c.728G>A, NM_001098632.2:c.728G>A, NM_001278160.2:c.728G>A, NM_001278160.1:c.728G>A, NP_115751.3:p.Arg263Gln, NP_001092103.1:p.Arg243Gln, NP_001265088.1:p.Arg243Gln, NP_001092102.1:p.Arg243Gln, NP_001265089.1:p.Arg243Gln

Select item 145930586014.

rs1459305860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49873227 (GRCh38)
19:50376484 (GRCh37)
Canonical SPDI:: NC_000019.10:49873226:C:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49873227C>A, NC_000019.9:g.50376484C>A, NM_032375.5:c.129G>T, NM_001098633.4:c.69G>T, NM_001098633.3:c.69G>T, NM_001278159.2:c.69G>T, NM_001278159.1:c.69G>T, NM_001098632.2:c.69G>T, NM_001278160.2:c.69G>T, NM_001278160.1:c.69G>T

Select item 144822111215.

rs1448221112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49873178 (GRCh38)
19:50376435 (GRCh37)
Canonical SPDI:: NC_000019.10:49873177:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49873178G>A, NC_000019.9:g.50376435G>A, NM_032375.5:c.178C>T, NM_001098633.4:c.118C>T, NM_001098633.3:c.118C>T, NM_001278159.2:c.118C>T, NM_001278159.1:c.118C>T, NM_001098632.2:c.118C>T, NM_001278160.2:c.118C>T, NM_001278160.1:c.118C>T, NP_115751.3:p.Arg60Cys, NP_001092103.1:p.Arg40Cys, NP_001265088.1:p.Arg40Cys, NP_001092102.1:p.Arg40Cys, NP_001265089.1:p.Arg40Cys

Select item 144598904016.

rs1445989040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49872922 (GRCh38)
19:50376179 (GRCh37)
Canonical SPDI:: NC_000019.10:49872921:T:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49872922T>C, NC_000019.9:g.50376179T>C, NM_032375.5:c.434A>G, NM_001098633.4:c.374A>G, NM_001098633.3:c.374A>G, NM_001278159.2:c.374A>G, NM_001278159.1:c.374A>G, NM_001098632.2:c.374A>G, NM_001278160.2:c.374A>G, NM_001278160.1:c.374A>G, NP_115751.3:p.Asn145Ser, NP_001092103.1:p.Asn125Ser, NP_001265088.1:p.Asn125Ser, NP_001092102.1:p.Asn125Ser, NP_001265089.1:p.Asn125Ser

Select item 144468019817.

rs1444680198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49870059 (GRCh38)
19:50373316 (GRCh37)
Canonical SPDI:: NC_000019.10:49870058:G:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.49870059G>T, NC_000019.9:g.50373316G>T, NG_027717.1:g.2507C>A, NM_032375.5:c.689C>A, NM_001098633.4:c.629C>A, NM_001098633.3:c.629C>A, NM_001278159.2:c.629C>A, NM_001278159.1:c.629C>A, NM_001098632.2:c.629C>A, NM_001278160.2:c.629C>A, NM_001278160.1:c.629C>A, NP_115751.3:p.Pro230His, NP_001092103.1:p.Pro210His, NP_001265088.1:p.Pro210His, NP_001092102.1:p.Pro210His, NP_001265089.1:p.Pro210His

Select item 143852042318.

rs1438520423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49871713 (GRCh38)
19:50374970 (GRCh37)
Canonical SPDI:: NC_000019.10:49871712:C:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49871713C>T, NC_000019.9:g.50374970C>T, NG_027717.1:g.853G>A, NM_032375.5:c.521G>A, NM_001098633.4:c.461G>A, NM_001098633.3:c.461G>A, NM_001278159.2:c.461G>A, NM_001278159.1:c.461G>A, NM_001098632.2:c.461G>A, NM_001278160.2:c.461G>A, NM_001278160.1:c.461G>A, NP_115751.3:p.Gly174Asp, NP_001092103.1:p.Gly154Asp, NP_001265088.1:p.Gly154Asp, NP_001092102.1:p.Gly154Asp, NP_001265089.1:p.Gly154Asp

Select item 143761384819.

rs1437613848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49871872 (GRCh38)
19:50375129 (GRCh37)
Canonical SPDI:: NC_000019.10:49871871:C:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49871872C>T, NC_000019.9:g.50375129C>T, NG_027717.1:g.694G>A, NM_032375.5:c.457G>A, NM_001098633.4:c.397G>A, NM_001098633.3:c.397G>A, NM_001278159.2:c.397G>A, NM_001278159.1:c.397G>A, NM_001098632.2:c.397G>A, NM_001278160.2:c.397G>A, NM_001278160.1:c.397G>A, NP_115751.3:p.Glu153Lys, NP_001092103.1:p.Glu133Lys, NP_001265088.1:p.Glu133Lys, NP_001092102.1:p.Glu133Lys, NP_001265089.1:p.Glu133Lys

Select item 143756407620.

rs1437564076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49873155 (GRCh38)
19:50376412 (GRCh37)
Canonical SPDI:: NC_000019.10:49873154:A:G
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49873155A>G, NC_000019.9:g.50376412A>G, NM_032375.5:c.201T>C, NM_001098633.4:c.141T>C, NM_001098633.3:c.141T>C, NM_001278159.2:c.141T>C, NM_001278159.1:c.141T>C, NM_001098632.2:c.141T>C, NM_001278160.2:c.141T>C, NM_001278160.1:c.141T>C

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