SNP Links for Protein (Select 42821112) - SNP

Links from Protein

Items: 1 to 20 of 148

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Select item 14851969351.

rs1485196935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:48914286 (GRCh38)
X:48771563 (GRCh37)
Canonical SPDI:: NC_000023.11:48914285:C:A,NC_000023.11:48914285:C:T
Gene:: PIM2 (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)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.48914286C>A, NC_000023.11:g.48914286C>T, NW_004070880.2:g.1153715C>A, NW_004070880.2:g.1153715C>T, NG_016262.2:g.9851G>T, NG_016262.2:g.9851G>A, NM_006875.4:c.781G>T, NM_006875.4:c.781G>A, NM_006875.3:c.781G>T, NM_006875.3:c.781G>A, NW_025791820.1:g.73121C>A, NW_025791820.1:g.73121C>T, NC_000023.10:g.48771563C>A, NC_000023.10:g.48771563C>T, NG_034300.1:g.2673G>T, NG_034300.1:g.2673G>A, XM_047441792.1:c.604G>T, XM_047441792.1:c.604G>A, NP_006866.2:p.Ala261Ser, NP_006866.2:p.Ala261Thr, XP_047297748.1:p.Ala202Ser, XP_047297748.1:p.Ala202Thr

Select item 14796172872.

rs1479617287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48917788 (GRCh38)
X:48775065 (GRCh37)
Canonical SPDI:: NC_000023.11:48917787:G:A
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.48917788G>A, NW_004070880.2:g.1157217G>A, NG_016262.2:g.6349C>T, NM_006875.4:c.215C>T, NM_006875.3:c.215C>T, NW_025791820.1:g.76623G>A, NC_000023.10:g.48775065G>A, XM_047441792.1:c.215C>T, NP_006866.2:p.Ser72Phe, XP_047297748.1:p.Ser72Phe

Select item 14770260773.

rs1477026077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:48915048 (GRCh38)
X:48772325 (GRCh37)
Canonical SPDI:: NC_000023.11:48915047:A:T
Gene:: PIM2 (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=0.00001/1 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.48915048A>T, NW_004070880.2:g.1154477A>T, NG_016262.2:g.9089T>A, NM_006875.4:c.567T>A, NM_006875.3:c.567T>A, NW_025791820.1:g.73883A>T, NC_000023.10:g.48772325A>T, NG_034300.1:g.1911T>A, XM_047441792.1:c.567T>A

Select item 14723146934.

rs1472314693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48915105 (GRCh38)
X:48772382 (GRCh37)
Canonical SPDI:: NC_000023.11:48915104:C:T
Gene:: PIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48915105C>T, NW_004070880.2:g.1154534C>T, NG_016262.2:g.9032G>A, NM_006875.4:c.510G>A, NM_006875.3:c.510G>A, NW_025791820.1:g.73940C>T, NC_000023.10:g.48772382C>T, NG_034300.1:g.1854G>A, XM_047441792.1:c.510G>A

Select item 14713967155.

rs1471396715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48914247 (GRCh38)
X:48771524 (GRCh37)
Canonical SPDI:: NC_000023.11:48914246:G:A,NC_000023.11:48914246:G:T
Gene:: PIM2 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48914247G>A, NC_000023.11:g.48914247G>T, NW_004070880.2:g.1153676G>A, NW_004070880.2:g.1153676G>T, NG_016262.2:g.9890C>T, NG_016262.2:g.9890C>A, NM_006875.4:c.820C>T, NM_006875.4:c.820C>A, NM_006875.3:c.820C>T, NM_006875.3:c.820C>A, NW_025791820.1:g.73082G>A, NW_025791820.1:g.73082G>T, NC_000023.10:g.48771524G>A, NC_000023.10:g.48771524G>T, NG_034300.1:g.2712C>T, NG_034300.1:g.2712C>A, XM_047441792.1:c.643C>T, XM_047441792.1:c.643C>A, NP_006866.2:p.Arg274Ter, XP_047297748.1:p.Arg215Ter

Select item 14445030026.

rs1444503002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48915388 (GRCh38)
X:48772665 (GRCh37)
Canonical SPDI:: NC_000023.11:48915387:T:C
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48915388T>C, NW_004070880.2:g.1154817T>C, NG_016262.2:g.8749A>G, NM_006875.4:c.227A>G, NM_006875.3:c.227A>G, NW_025791820.1:g.74223T>C, NC_000023.10:g.48772665T>C, NG_034300.1:g.1571A>G, XM_047441792.1:c.227A>G, NP_006866.2:p.Asp76Gly, XP_047297748.1:p.Asp76Gly

Select item 14135667337.

rs1413566733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48914461 (GRCh38)
X:48771738 (GRCh37)
Canonical SPDI:: NC_000023.11:48914460:T:C
Gene:: PIM2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48914461T>C, NW_004070880.2:g.1153890T>C, NG_016262.2:g.9676A>G, NM_006875.4:c.706A>G, NM_006875.3:c.706A>G, NW_025791820.1:g.73296T>C, NC_000023.10:g.48771738T>C, NG_034300.1:g.2498A>G, NP_006866.2:p.Ile236Val

Select item 14098821948.

rs1409882194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:48915335 (GRCh38)
X:48772612 (GRCh37)
Canonical SPDI:: NC_000023.11:48915334:C:A
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48915335C>A, NW_004070880.2:g.1154764C>A, NG_016262.2:g.8802G>T, NM_006875.4:c.280G>T, NM_006875.3:c.280G>T, NW_025791820.1:g.74170C>A, NC_000023.10:g.48772612C>A, NG_034300.1:g.1624G>T, XM_047441792.1:c.280G>T, NP_006866.2:p.Gly94Cys, XP_047297748.1:p.Gly94Cys

Select item 14041973079.

rs1404197307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48915300 (GRCh38)
X:48772577 (GRCh37)
Canonical SPDI:: NC_000023.11:48915299:C:G
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48915300C>G, NW_004070880.2:g.1154729C>G, NG_016262.2:g.8837G>C, NM_006875.4:c.315G>C, NM_006875.3:c.315G>C, NW_025791820.1:g.74135C>G, NC_000023.10:g.48772577C>G, NG_034300.1:g.1659G>C, XM_047441792.1:c.315G>C, NP_006866.2:p.Trp105Cys, XP_047297748.1:p.Trp105Cys

Select item 137270497510.

rs1372704975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48914187 (GRCh38)
X:48771464 (GRCh37)
Canonical SPDI:: NC_000023.11:48914186:G:A
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48914187G>A, NW_004070880.2:g.1153616G>A, NG_016262.2:g.9950C>T, NM_006875.4:c.880C>T, NM_006875.3:c.880C>T, NW_025791820.1:g.73022G>A, NC_000023.10:g.48771464G>A, NG_034300.1:g.2772C>T, XM_047441792.1:c.703C>T, NP_006866.2:p.Pro294Ser, XP_047297748.1:p.Pro235Ser

Select item 136837295111.

rs1368372951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48914156 (GRCh38)
X:48771433 (GRCh37)
Canonical SPDI:: NC_000023.11:48914155:G:A
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48914156G>A, NW_004070880.2:g.1153585G>A, NG_016262.2:g.9981C>T, NM_006875.4:c.911C>T, NM_006875.3:c.911C>T, NW_025791820.1:g.72991G>A, NC_000023.10:g.48771433G>A, NG_034300.1:g.2803C>T, XM_047441792.1:c.734C>T, NP_006866.2:p.Pro304Leu, XP_047297748.1:p.Pro245Leu

Select item 135784785612.

rs1357847856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48918581 (GRCh38)
X:48775858 (GRCh37)
Canonical SPDI:: NC_000023.11:48918580:G:A,NC_000023.11:48918580:G:T
Gene:: PIM2 (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=0.00001/1 (GnomAD)
A=0.01/1 (Vietnamese)
HGVS:: NC_000023.11:g.48918581G>A, NC_000023.11:g.48918581G>T, NW_004070880.2:g.1158010G>A, NW_004070880.2:g.1158010G>T, NG_016262.2:g.5556C>T, NG_016262.2:g.5556C>A, NM_006875.4:c.126C>T, NM_006875.4:c.126C>A, NM_006875.3:c.126C>T, NM_006875.3:c.126C>A, NW_025791820.1:g.77416G>A, NW_025791820.1:g.77416G>T, NC_000023.10:g.48775858G>A, NC_000023.10:g.48775858G>T, XM_047441792.1:c.126C>T, XM_047441792.1:c.126C>A

Select item 135085568113.

rs1350855681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48915206 (GRCh38)
X:48772483 (GRCh37)
Canonical SPDI:: NC_000023.11:48915205:C:G
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48915206C>G, NW_004070880.2:g.1154635C>G, NG_016262.2:g.8931G>C, NM_006875.4:c.409G>C, NM_006875.3:c.409G>C, NW_025791820.1:g.74041C>G, NC_000023.10:g.48772483C>G, NG_034300.1:g.1753G>C, XM_047441792.1:c.409G>C, NP_006866.2:p.Glu137Gln, XP_047297748.1:p.Glu137Gln

Select item 133126266314.

rs1331262663 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: X:48914559 (GRCh38)
X:48771837 (GRCh37)
Canonical SPDI:: NC_000023.11:48914559:ACAC:ACACAC
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
AC=0.000008/2 (TOPMED)
AC=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48914560AC[3], NW_004070880.2:g.1153989AC[3], NG_016262.2:g.9574GT[3], NM_006875.4:c.606_607dup, NM_006875.3:c.606_607dup, NW_025791820.1:g.73395AC[3], NC_000023.10:g.48771837AC[3], NG_034300.1:g.2396GT[3], NP_006866.2:p.Tyr203fs

Select item 130888232915.

rs1308882329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48914192 (GRCh38)
X:48771469 (GRCh37)
Canonical SPDI:: NC_000023.11:48914191:T:G
Gene:: PIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48914192T>G, NW_004070880.2:g.1153621T>G, NG_016262.2:g.9945A>C, NM_006875.4:c.875A>C, NM_006875.3:c.875A>C, NW_025791820.1:g.73027T>G, NC_000023.10:g.48771469T>G, NG_034300.1:g.2767A>C, XM_047441792.1:c.698A>C, NP_006866.2:p.Asp292Ala, XP_047297748.1:p.Asp233Ala

Select item 129772642016.

rs1297726420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48914175 (GRCh38)
X:48771452 (GRCh37)
Canonical SPDI:: NC_000023.11:48914174:A:G
Gene:: PIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48914175A>G, NW_004070880.2:g.1153604A>G, NG_016262.2:g.9962T>C, NM_006875.4:c.892T>C, NM_006875.3:c.892T>C, NW_025791820.1:g.73010A>G, NC_000023.10:g.48771452A>G, NG_034300.1:g.2784T>C, XM_047441792.1:c.715T>C, NP_006866.2:p.Ser298Pro, XP_047297748.1:p.Ser239Pro

Select item 129459041417.

rs1294590414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:48918610 (GRCh38)
X:48775887 (GRCh37)
Canonical SPDI:: NC_000023.11:48918609:G:A,NC_000023.11:48918609:G:C
Gene:: PIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48918610G>A, NC_000023.11:g.48918610G>C, NW_004070880.2:g.1158039G>A, NW_004070880.2:g.1158039G>C, NG_016262.2:g.5527C>T, NG_016262.2:g.5527C>G, NM_006875.4:c.97C>T, NM_006875.4:c.97C>G, NM_006875.3:c.97C>T, NM_006875.3:c.97C>G, NW_025791820.1:g.77445G>A, NW_025791820.1:g.77445G>C, NC_000023.10:g.48775887G>A, NC_000023.10:g.48775887G>C, XM_047441792.1:c.97C>T, XM_047441792.1:c.97C>G, NP_006866.2:p.Arg33Ter, NP_006866.2:p.Arg33Gly, XP_047297748.1:p.Arg33Ter, XP_047297748.1:p.Arg33Gly

Select item 127848249518.

rs1278482495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48918795 (GRCh38)
X:48776072 (GRCh37)
Canonical SPDI:: NC_000023.11:48918794:C:T
Gene:: PIM2 (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=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48918795C>T, NW_004070880.2:g.1158224C>T, NG_016262.2:g.5342G>A, NM_006875.4:c.40G>A, NM_006875.3:c.40G>A, NW_025791820.1:g.77630C>T, NC_000023.10:g.48776072C>T, XM_047441792.1:c.40G>A, NP_006866.2:p.Gly14Arg, XP_047297748.1:p.Gly14Arg

Select item 127609300919.

rs1276093009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48915174 (GRCh38)
X:48772451 (GRCh37)
Canonical SPDI:: NC_000023.11:48915173:T:C
Gene:: PIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48915174T>C, NW_004070880.2:g.1154603T>C, NG_016262.2:g.8963A>G, NM_006875.4:c.441A>G, NM_006875.3:c.441A>G, NW_025791820.1:g.74009T>C, NC_000023.10:g.48772451T>C, NG_034300.1:g.1785A>G, XM_047441792.1:c.441A>G

Select item 127147727020.

rs1271477270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48917825 (GRCh38)
X:48775102 (GRCh37)
Canonical SPDI:: NC_000023.11:48917824:T:C
Gene:: PIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48917825T>C, NW_004070880.2:g.1157254T>C, NG_016262.2:g.6312A>G, NM_006875.4:c.178A>G, NM_006875.3:c.178A>G, NW_025791820.1:g.76660T>C, NC_000023.10:g.48775102T>C, XM_047441792.1:c.178A>G, NP_006866.2:p.Ile60Val, XP_047297748.1:p.Ile60Val

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