SNP Links for Protein (Select 224586860) - SNP

Links from Protein

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Select item 14908939731.

rs1490893973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31589843 (GRCh38)
6:31557620 (GRCh37)
Canonical SPDI:: NC_000006.12:31589842:T:C
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.31589843T>C, NC_000006.11:g.31557620T>C, NG_021176.1:g.8143A>G, NM_147130.3:c.327A>G, NM_147130.2:c.327A>G, NM_001145466.2:c.327A>G, NM_001145466.1:c.327A>G, NM_001145467.2:c.327A>G, NM_001145467.1:c.327A>G, NG_030378.1:g.8665T>C, NT_113891.3:g.3067126T>C, NT_113891.2:g.3067232T>C, NT_167245.2:g.2837580T>C, NT_167245.1:g.2843165T>C, NT_167244.2:g.2922422T>C, NT_167244.1:g.2872338T>C, NT_167249.2:g.2889124T>C, NT_167249.1:g.2888422T>C, NT_167247.2:g.2931736T>C, NT_167247.1:g.2937321T>C, NT_167246.2:g.2894884T>C, NT_167246.1:g.2900504T>C, NT_167248.2:g.2845666T>C, NT_167248.1:g.2851262T>C, XM_006715049.4:c.327A>G, XM_006715049.3:c.327A>G, XM_006715049.2:c.327A>G, XM_006715049.1:c.327A>G, XM_011514459.3:c.252A>G, XM_011514459.2:c.252A>G, XM_011514459.1:c.252A>G

Select item 14887920482.

rs1488792048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31589961 (GRCh38)
6:31557738 (GRCh37)
Canonical SPDI:: NC_000006.12:31589960:G:A,NC_000006.12:31589960:G:T
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31589961G>A, NC_000006.12:g.31589961G>T, NC_000006.11:g.31557738G>A, NC_000006.11:g.31557738G>T, NG_021176.1:g.8025C>T, NG_021176.1:g.8025C>A, NM_147130.3:c.209C>T, NM_147130.3:c.209C>A, NM_147130.2:c.209C>T, NM_147130.2:c.209C>A, NM_001145466.2:c.209C>T, NM_001145466.2:c.209C>A, NM_001145466.1:c.209C>T, NM_001145466.1:c.209C>A, NM_001145467.2:c.209C>T, NM_001145467.2:c.209C>A, NM_001145467.1:c.209C>T, NM_001145467.1:c.209C>A, NG_030378.1:g.8783G>A, NG_030378.1:g.8783G>T, NT_113891.3:g.3067244G>A, NT_113891.3:g.3067244G>T, NT_113891.2:g.3067350G>A, NT_113891.2:g.3067350G>T, NT_167245.2:g.2837698G>A, NT_167245.2:g.2837698G>T, NT_167245.1:g.2843283G>A, NT_167245.1:g.2843283G>T, NT_167244.2:g.2922540G>A, NT_167244.2:g.2922540G>T, NT_167244.1:g.2872456G>A, NT_167244.1:g.2872456G>T, NT_167249.2:g.2889242G>A, NT_167249.2:g.2889242G>T, NT_167249.1:g.2888540G>A, NT_167249.1:g.2888540G>T, NT_167247.2:g.2931854G>A, NT_167247.2:g.2931854G>T, NT_167247.1:g.2937439G>A, NT_167247.1:g.2937439G>T, NT_167246.2:g.2895002G>A, NT_167246.2:g.2895002G>T, NT_167246.1:g.2900622G>A, NT_167246.1:g.2900622G>T, NT_167248.2:g.2845784G>A, NT_167248.2:g.2845784G>T, NT_167248.1:g.2851380G>A, NT_167248.1:g.2851380G>T, XM_006715049.4:c.209C>T, XM_006715049.4:c.209C>A, XM_006715049.3:c.209C>T, XM_006715049.3:c.209C>A, XM_006715049.2:c.209C>T, XM_006715049.2:c.209C>A, XM_006715049.1:c.209C>T, XM_006715049.1:c.209C>A, NP_667341.1:p.Thr70Ile, NP_667341.1:p.Thr70Asn, NP_001138938.1:p.Thr70Ile, NP_001138938.1:p.Thr70Asn, NP_001138939.1:p.Thr70Ile, NP_001138939.1:p.Thr70Asn, XP_006715112.1:p.Thr70Ile, XP_006715112.1:p.Thr70Asn

Select item 14692581623.

rs1469258162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31590022 (GRCh38)
6:31557799 (GRCh37)
Canonical SPDI:: NC_000006.12:31590021:T:C
Gene:: NCR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000006.12:g.31590022T>C, NC_000006.11:g.31557799T>C, NG_021176.1:g.7964A>G, NM_147130.3:c.148A>G, NM_147130.2:c.148A>G, NM_001145466.2:c.148A>G, NM_001145466.1:c.148A>G, NM_001145467.2:c.148A>G, NM_001145467.1:c.148A>G, NG_030378.1:g.8844T>C, NT_113891.3:g.3067305T>C, NT_113891.2:g.3067411T>C, NT_167245.2:g.2837759T>C, NT_167245.1:g.2843344T>C, NT_167244.2:g.2922601T>C, NT_167244.1:g.2872517T>C, NT_167249.2:g.2889303T>C, NT_167249.1:g.2888601T>C, NT_167247.2:g.2931915T>C, NT_167247.1:g.2937500T>C, NT_167246.2:g.2895063T>C, NT_167246.1:g.2900683T>C, NT_167248.2:g.2845845T>C, NT_167248.1:g.2851441T>C, XM_006715049.4:c.148A>G, XM_006715049.3:c.148A>G, XM_006715049.2:c.148A>G, XM_006715049.1:c.148A>G, XM_011514459.3:c.148A>G, XM_011514459.2:c.148A>G, XM_011514459.1:c.148A>G, NP_667341.1:p.Ile50Val, NP_001138938.1:p.Ile50Val, NP_001138939.1:p.Ile50Val, XP_006715112.1:p.Ile50Val, XP_011512761.1:p.Ile50Val

Select item 14685779644.

rs1468577964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31589853 (GRCh38)
6:31557630 (GRCh37)
Canonical SPDI:: NC_000006.12:31589852:T:C
Gene:: NCR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31589853T>C, NC_000006.11:g.31557630T>C, NG_021176.1:g.8133A>G, NM_147130.3:c.317A>G, NM_147130.2:c.317A>G, NM_001145466.2:c.317A>G, NM_001145466.1:c.317A>G, NM_001145467.2:c.317A>G, NM_001145467.1:c.317A>G, NG_030378.1:g.8675T>C, NT_113891.3:g.3067136T>C, NT_113891.2:g.3067242T>C, NT_167245.2:g.2837590T>C, NT_167245.1:g.2843175T>C, NT_167244.2:g.2922432T>C, NT_167244.1:g.2872348T>C, NT_167249.2:g.2889134T>C, NT_167249.1:g.2888432T>C, NT_167247.2:g.2931746T>C, NT_167247.1:g.2937331T>C, NT_167246.2:g.2894894T>C, NT_167246.1:g.2900514T>C, NT_167248.2:g.2845676T>C, NT_167248.1:g.2851272T>C, XM_006715049.4:c.317A>G, XM_006715049.3:c.317A>G, XM_006715049.2:c.317A>G, XM_006715049.1:c.317A>G, XM_011514459.3:c.242A>G, XM_011514459.2:c.242A>G, XM_011514459.1:c.242A>G, NP_667341.1:p.Tyr106Cys, NP_001138938.1:p.Tyr106Cys, NP_001138939.1:p.Tyr106Cys, XP_006715112.1:p.Tyr106Cys, XP_011512761.1:p.Tyr81Cys

Select item 14590322975.

rs1459032297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31590038 (GRCh38)
6:31557815 (GRCh37)
Canonical SPDI:: NC_000006.12:31590037:G:A
Gene:: NCR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31590038G>A, NC_000006.11:g.31557815G>A, NG_021176.1:g.7948C>T, NM_147130.3:c.132C>T, NM_147130.2:c.132C>T, NM_001145466.2:c.132C>T, NM_001145466.1:c.132C>T, NM_001145467.2:c.132C>T, NM_001145467.1:c.132C>T, NG_030378.1:g.8860G>A, NT_113891.3:g.3067321G>A, NT_113891.2:g.3067427G>A, NT_167245.2:g.2837775G>A, NT_167245.1:g.2843360G>A, NT_167244.2:g.2922617G>A, NT_167244.1:g.2872533G>A, NT_167249.2:g.2889319G>A, NT_167249.1:g.2888617G>A, NT_167247.2:g.2931931G>A, NT_167247.1:g.2937516G>A, NT_167246.2:g.2895079G>A, NT_167246.1:g.2900699G>A, NT_167248.2:g.2845861G>A, NT_167248.1:g.2851457G>A, XM_006715049.4:c.132C>T, XM_006715049.3:c.132C>T, XM_006715049.2:c.132C>T, XM_006715049.1:c.132C>T, XM_011514459.3:c.132C>T, XM_011514459.2:c.132C>T, XM_011514459.1:c.132C>T

Select item 14577225716.

rs1457722571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31589929 (GRCh38)
6:31557706 (GRCh37)
Canonical SPDI:: NC_000006.12:31589928:C:T
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.31589929C>T, NC_000006.11:g.31557706C>T, NG_021176.1:g.8057G>A, NM_147130.3:c.241G>A, NM_147130.2:c.241G>A, NM_001145466.2:c.241G>A, NM_001145466.1:c.241G>A, NM_001145467.2:c.241G>A, NM_001145467.1:c.241G>A, NG_030378.1:g.8751C>T, NT_113891.3:g.3067212C>T, NT_113891.2:g.3067318C>T, NT_167245.2:g.2837666C>T, NT_167245.1:g.2843251C>T, NT_167244.2:g.2922508C>T, NT_167244.1:g.2872424C>T, NT_167249.2:g.2889210C>T, NT_167249.1:g.2888508C>T, NT_167247.2:g.2931822C>T, NT_167247.1:g.2937407C>T, NT_167246.2:g.2894970C>T, NT_167246.1:g.2900590C>T, NT_167248.2:g.2845752C>T, NT_167248.1:g.2851348C>T, XM_006715049.4:c.241G>A, XM_006715049.3:c.241G>A, XM_006715049.2:c.241G>A, XM_006715049.1:c.241G>A, NP_667341.1:p.Ala81Thr, NP_001138938.1:p.Ala81Thr, NP_001138939.1:p.Ala81Thr, XP_006715112.1:p.Ala81Thr

Select item 14422627217.

rs1442262721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31589206 (GRCh38)
6:31556983 (GRCh37)
Canonical SPDI:: NC_000006.12:31589205:G:A
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000006.12:g.31589206G>A, NC_000006.11:g.31556983G>A, NG_021176.1:g.8780C>T, NM_001145466.2:c.522C>T, NM_001145466.1:c.522C>T, NG_030378.1:g.8028G>A, NT_113891.3:g.3066489G>A, NT_113891.2:g.3066595G>A, NT_167245.2:g.2836943G>A, NT_167245.1:g.2842528G>A, NT_167244.2:g.2921785G>A, NT_167244.1:g.2871701G>A, NT_167249.2:g.2888487G>A, NT_167249.1:g.2887785G>A, NT_167247.2:g.2931099G>A, NT_167247.1:g.2936684G>A, NT_167246.2:g.2894247G>A, NT_167246.1:g.2899867G>A, NT_167248.2:g.2845029G>A, NT_167248.1:g.2850625G>A

Select item 14410201498.

rs1441020149 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCTGGGGT [Show Flanks]
Chromosome:: 6:31589972 (GRCh38)
6:31557750 (GRCh37)
Canonical SPDI:: NC_000006.12:31589972::CTCTGGGGT
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTGGGGT=0./0 (ALFA)
CTCTGGGGT=0.000004/1 (GnomAD_exomes)
CTCTGGGGT=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31589972_31589973insCTCTGGGGT, NC_000006.11:g.31557749_31557750insCTCTGGGGT, NG_021176.1:g.8013_8014insACCCCAGAG, NM_147130.3:c.197_198insACCCCAGAG, NM_147130.2:c.197_198insACCCCAGAG, NM_001145466.2:c.197_198insACCCCAGAG, NM_001145466.1:c.197_198insACCCCAGAG, NM_001145467.2:c.197_198insACCCCAGAG, NM_001145467.1:c.197_198insACCCCAGAG, NG_030378.1:g.8794_8795insCTCTGGGGT, NT_113891.3:g.3067255_3067256insCTCTGGGGT, NT_113891.2:g.3067361_3067362insCTCTGGGGT, NT_167245.2:g.2837709_2837710insCTCTGGGGT, NT_167245.1:g.2843294_2843295insCTCTGGGGT, NT_167244.2:g.2922551_2922552insCTCTGGGGT, NT_167244.1:g.2872467_2872468insCTCTGGGGT, NT_167249.2:g.2889253_2889254insCTCTGGGGT, NT_167249.1:g.2888551_2888552insCTCTGGGGT, NT_167247.2:g.2931865_2931866insCTCTGGGGT, NT_167247.1:g.2937450_2937451insCTCTGGGGT, NT_167246.2:g.2895013_2895014insCTCTGGGGT, NT_167246.1:g.2900633_2900634insCTCTGGGGT, NT_167248.2:g.2845795_2845796insCTCTGGGGT, NT_167248.1:g.2851391_2851392insCTCTGGGGT, XM_006715049.4:c.197_198insACCCCAGAG, XM_006715049.3:c.197_198insACCCCAGAG, XM_006715049.2:c.197_198insACCCCAGAG, XM_006715049.1:c.197_198insACCCCAGAG, NP_667341.1:p.Arg67_Asn68insProGlnArg, NP_001138938.1:p.Arg67_Asn68insProGlnArg, NP_001138939.1:p.Arg67_Asn68insProGlnArg, XP_006715112.1:p.Arg67_Asn68insProGlnArg

Select item 14323464889.

rs1432346488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31589805 (GRCh38)
6:31557582 (GRCh37)
Canonical SPDI:: NC_000006.12:31589804:C:T
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31589805C>T, NC_000006.11:g.31557582C>T, NG_021176.1:g.8181G>A, NM_147130.3:c.365G>A, NM_147130.2:c.365G>A, NM_001145466.2:c.365G>A, NM_001145466.1:c.365G>A, NM_001145467.2:c.365G>A, NM_001145467.1:c.365G>A, NG_030378.1:g.8627C>T, NT_113891.3:g.3067088C>T, NT_113891.2:g.3067194C>T, NT_167245.2:g.2837542C>T, NT_167245.1:g.2843127C>T, NT_167244.2:g.2922384C>T, NT_167244.1:g.2872300C>T, NT_167249.2:g.2889086C>T, NT_167249.1:g.2888384C>T, NT_167247.2:g.2931698C>T, NT_167247.1:g.2937283C>T, NT_167246.2:g.2894846C>T, NT_167246.1:g.2900466C>T, NT_167248.2:g.2845628C>T, NT_167248.1:g.2851224C>T, XM_006715049.4:c.365G>A, XM_006715049.3:c.365G>A, XM_006715049.2:c.365G>A, XM_006715049.1:c.365G>A, XM_011514459.3:c.290G>A, XM_011514459.2:c.290G>A, XM_011514459.1:c.290G>A, NP_667341.1:p.Gly122Glu, NP_001138938.1:p.Gly122Glu, NP_001138939.1:p.Gly122Glu, XP_006715112.1:p.Gly122Glu, XP_011512761.1:p.Gly97Glu

Select item 142116751010.

rs1421167510 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:31589925 (GRCh38)
6:31557702 (GRCh37)
Canonical SPDI:: NC_000006.12:31589924:G:
Gene:: NCR3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31589925del, NC_000006.11:g.31557702del, NG_021176.1:g.8061del, NM_147130.3:c.245del, NM_147130.2:c.245del, NM_001145466.2:c.245del, NM_001145466.1:c.245del, NM_001145467.2:c.245del, NM_001145467.1:c.245del, NG_030378.1:g.8747del, NT_113891.3:g.3067208del, NT_113891.2:g.3067314del, NT_167245.2:g.2837662del, NT_167245.1:g.2843247del, NT_167244.2:g.2922504del, NT_167244.1:g.2872420del, NT_167249.2:g.2889206del, NT_167249.1:g.2888504del, NT_167247.2:g.2931818del, NT_167247.1:g.2937403del, NT_167246.2:g.2894966del, NT_167246.1:g.2900586del, NT_167248.2:g.2845748del, NT_167248.1:g.2851344del, XM_006715049.4:c.245del, XM_006715049.3:c.245del, XM_006715049.2:c.245del, XM_006715049.1:c.245del, NP_667341.1:p.Ser82fs, NP_001138938.1:p.Ser82fs, NP_001138939.1:p.Ser82fs, XP_006715112.1:p.Ser82fs

Select item 141912742311.

rs1419127423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31592707 (GRCh38)
6:31560484 (GRCh37)
Canonical SPDI:: NC_000006.12:31592706:C:G
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.31592707C>G, NC_000006.11:g.31560484C>G, NG_021176.1:g.5279G>C, NM_147130.3:c.15G>C, NM_147130.2:c.15G>C, NM_001145466.2:c.15G>C, NM_001145466.1:c.15G>C, NM_001145467.2:c.15G>C, NM_001145467.1:c.15G>C, NT_113891.3:g.3069990C>G, NT_113891.2:g.3070096C>G, NT_167245.2:g.2840444C>G, NT_167245.1:g.2846029C>G, NT_167244.2:g.2925286C>G, NT_167244.1:g.2875202C>G, NT_167249.2:g.2891987C>G, NT_167249.1:g.2891285C>G, NT_167247.2:g.2934600C>G, NT_167247.1:g.2940185C>G, NT_167246.2:g.2897748C>G, NT_167246.1:g.2903368C>G, NT_167248.2:g.2848528C>G, NT_167248.1:g.2854124C>G, XM_006715049.4:c.15G>C, XM_006715049.3:c.15G>C, XM_006715049.2:c.15G>C, XM_006715049.1:c.15G>C, XM_011514459.3:c.15G>C, XM_011514459.2:c.15G>C, XM_011514459.1:c.15G>C

Select item 140495744812.

rs1404957448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31589916 (GRCh38)
6:31557693 (GRCh37)
Canonical SPDI:: NC_000006.12:31589915:A:G
Gene:: NCR3 (Varview)
Functional Consequence:: intron_variant,missense_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_000006.12:g.31589916A>G, NC_000006.11:g.31557693A>G, NG_021176.1:g.8070T>C, NM_147130.3:c.254T>C, NM_147130.2:c.254T>C, NM_001145466.2:c.254T>C, NM_001145466.1:c.254T>C, NM_001145467.2:c.254T>C, NM_001145467.1:c.254T>C, NG_030378.1:g.8738A>G, NT_113891.3:g.3067199A>G, NT_113891.2:g.3067305A>G, NT_167245.2:g.2837653A>G, NT_167245.1:g.2843238A>G, NT_167244.2:g.2922495A>G, NT_167244.1:g.2872411A>G, NT_167249.2:g.2889197A>G, NT_167249.1:g.2888495A>G, NT_167247.2:g.2931809A>G, NT_167247.1:g.2937394A>G, NT_167246.2:g.2894957A>G, NT_167246.1:g.2900577A>G, NT_167248.2:g.2845739A>G, NT_167248.1:g.2851335A>G, XM_006715049.4:c.254T>C, XM_006715049.3:c.254T>C, XM_006715049.2:c.254T>C, XM_006715049.1:c.254T>C, NP_667341.1:p.Phe85Ser, NP_001138938.1:p.Phe85Ser, NP_001138939.1:p.Phe85Ser, XP_006715112.1:p.Phe85Ser

Select item 139887091813.

rs1398870918 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCAGGCGGCCCCTG>- [Show Flanks]
Chromosome:: 6:31589936 (GRCh38)
6:31557713 (GRCh37)
Canonical SPDI:: NC_000006.12:31589934:GGGCCAGGCGGCCCCTG:G
Gene:: NCR3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31589936_31589951del, NC_000006.11:g.31557713_31557728del, NG_021176.1:g.8036_8051del, NM_147130.3:c.220_235del, NM_147130.2:c.220_235del, NM_001145466.2:c.220_235del, NM_001145466.1:c.220_235del, NM_001145467.2:c.220_235del, NM_001145467.1:c.220_235del, NG_030378.1:g.8758_8773del, NT_113891.3:g.3067219_3067234del, NT_113891.2:g.3067325_3067340del, NT_167245.2:g.2837673_2837688del, NT_167245.1:g.2843258_2843273del, NT_167244.2:g.2922515_2922530del, NT_167244.1:g.2872431_2872446del, NT_167249.2:g.2889217_2889232del, NT_167249.1:g.2888515_2888530del, NT_167247.2:g.2931829_2931844del, NT_167247.1:g.2937414_2937429del, NT_167246.2:g.2894977_2894992del, NT_167246.1:g.2900597_2900612del, NT_167248.2:g.2845759_2845774del, NT_167248.1:g.2851355_2851370del, XM_006715049.4:c.220_235del, XM_006715049.3:c.220_235del, XM_006715049.2:c.220_235del, XM_006715049.1:c.220_235del, NP_667341.1:p.Arg74fs, NP_001138938.1:p.Arg74fs, NP_001138939.1:p.Arg74fs, XP_006715112.1:p.Arg74fs

Select item 139573415214.

rs1395734152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31592701 (GRCh38)
6:31560478 (GRCh37)
Canonical SPDI:: NC_000006.12:31592700:G:A
Gene:: NCR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31592701G>A, NC_000006.11:g.31560478G>A, NG_021176.1:g.5285C>T, NM_147130.3:c.21C>T, NM_147130.2:c.21C>T, NM_001145466.2:c.21C>T, NM_001145466.1:c.21C>T, NM_001145467.2:c.21C>T, NM_001145467.1:c.21C>T, NT_113891.3:g.3069984G>A, NT_113891.2:g.3070090G>A, NT_167245.2:g.2840438G>A, NT_167245.1:g.2846023G>A, NT_167244.2:g.2925280G>A, NT_167244.1:g.2875196G>A, NT_167249.2:g.2891981G>A, NT_167249.1:g.2891279G>A, NT_167247.2:g.2934594G>A, NT_167247.1:g.2940179G>A, NT_167246.2:g.2897742G>A, NT_167246.1:g.2903362G>A, NT_167248.2:g.2848522G>A, NT_167248.1:g.2854118G>A, XM_006715049.4:c.21C>T, XM_006715049.3:c.21C>T, XM_006715049.2:c.21C>T, XM_006715049.1:c.21C>T, XM_011514459.3:c.21C>T, XM_011514459.2:c.21C>T, XM_011514459.1:c.21C>T

Select item 139017025415.

rs1390170254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31589974 (GRCh38)
6:31557751 (GRCh37)
Canonical SPDI:: NC_000006.12:31589973:C:A
Gene:: NCR3 (Varview)
Functional Consequence:: missense_variant,splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31589974C>A, NC_000006.11:g.31557751C>A, NG_021176.1:g.8012G>T, NM_147130.3:c.196G>T, NM_147130.2:c.196G>T, NM_001145466.2:c.196G>T, NM_001145466.1:c.196G>T, NM_001145467.2:c.196G>T, NM_001145467.1:c.196G>T, NG_030378.1:g.8796C>A, NT_113891.3:g.3067257C>A, NT_113891.2:g.3067363C>A, NT_167245.2:g.2837711C>A, NT_167245.1:g.2843296C>A, NT_167244.2:g.2922553C>A, NT_167244.1:g.2872469C>A, NT_167249.2:g.2889255C>A, NT_167249.1:g.2888553C>A, NT_167247.2:g.2931867C>A, NT_167247.1:g.2937452C>A, NT_167246.2:g.2895015C>A, NT_167246.1:g.2900635C>A, NT_167248.2:g.2845797C>A, NT_167248.1:g.2851393C>A, XM_006715049.4:c.196G>T, XM_006715049.3:c.196G>T, XM_006715049.2:c.196G>T, XM_006715049.1:c.196G>T, NP_667341.1:p.Val66Leu, NP_001138938.1:p.Val66Leu, NP_001138939.1:p.Val66Leu, XP_006715112.1:p.Val66Leu

Select item 138221749016.

rs1382217490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31589567 (GRCh38)
6:31557344 (GRCh37)
Canonical SPDI:: NC_000006.12:31589566:A:G
Gene:: NCR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31589567A>G, NC_000006.11:g.31557344A>G, NG_021176.1:g.8419T>C, NM_147130.3:c.455T>C, NM_147130.2:c.455T>C, NM_001145466.2:c.455T>C, NM_001145466.1:c.455T>C, NM_001145467.2:c.455T>C, NM_001145467.1:c.455T>C, NG_030378.1:g.8389A>G, NT_113891.3:g.3066850A>G, NT_113891.2:g.3066956A>G, NT_167245.2:g.2837304A>G, NT_167245.1:g.2842889A>G, NT_167244.2:g.2922146A>G, NT_167244.1:g.2872062A>G, NT_167249.2:g.2888848A>G, NT_167249.1:g.2888146A>G, NT_167247.2:g.2931460A>G, NT_167247.1:g.2937045A>G, NT_167246.2:g.2894608A>G, NT_167246.1:g.2900228A>G, NT_167248.2:g.2845390A>G, NT_167248.1:g.2850986A>G, XM_006715049.4:c.455T>C, XM_006715049.3:c.455T>C, XM_006715049.2:c.455T>C, XM_006715049.1:c.455T>C, XM_011514459.3:c.380T>C, XM_011514459.2:c.380T>C, XM_011514459.1:c.380T>C, NP_667341.1:p.Leu152Pro, NP_001138938.1:p.Leu152Pro, NP_001138939.1:p.Leu152Pro, XP_006715112.1:p.Leu152Pro, XP_011512761.1:p.Leu127Pro

Select item 137924045217.

rs1379240452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:31589815 (GRCh38)
6:31557593 (GRCh37)
Canonical SPDI:: NC_000006.12:31589815:CCC:CCCC
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31589818dup, NC_000006.11:g.31557595dup, NG_021176.1:g.8170dup, NM_147130.3:c.354dup, NM_147130.2:c.354dup, NM_001145466.2:c.354dup, NM_001145466.1:c.354dup, NM_001145467.2:c.354dup, NM_001145467.1:c.354dup, NG_030378.1:g.8640dup, NT_113891.3:g.3067101dup, NT_113891.2:g.3067207dup, NT_167245.2:g.2837555dup, NT_167245.1:g.2843140dup, NT_167244.2:g.2922397dup, NT_167244.1:g.2872313dup, NT_167249.2:g.2889099dup, NT_167249.1:g.2888397dup, NT_167247.2:g.2931711dup, NT_167247.1:g.2937296dup, NT_167246.2:g.2894859dup, NT_167246.1:g.2900479dup, NT_167248.2:g.2845641dup, NT_167248.1:g.2851237dup, XM_006715049.4:c.354dup, XM_006715049.3:c.354dup, XM_006715049.2:c.354dup, XM_006715049.1:c.354dup, XM_011514459.3:c.279dup, XM_011514459.2:c.279dup, XM_011514459.1:c.279dup, NP_667341.1:p.Thr119fs, NP_001138938.1:p.Thr119fs, NP_001138939.1:p.Thr119fs, XP_006715112.1:p.Thr119fs, XP_011512761.1:p.Thr94fs

Select item 137838377018.

rs1378383770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31592684 (GRCh38)
6:31560461 (GRCh37)
Canonical SPDI:: NC_000006.12:31592683:T:A
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.31592684T>A, NC_000006.11:g.31560461T>A, NG_021176.1:g.5302A>T, NM_147130.3:c.38A>T, NM_147130.2:c.38A>T, NM_001145466.2:c.38A>T, NM_001145466.1:c.38A>T, NM_001145467.2:c.38A>T, NM_001145467.1:c.38A>T, NT_113891.3:g.3069967T>A, NT_113891.2:g.3070073T>A, NT_167245.2:g.2840421T>A, NT_167245.1:g.2846006T>A, NT_167244.2:g.2925263T>A, NT_167244.1:g.2875179T>A, NT_167249.2:g.2891964T>A, NT_167249.1:g.2891262T>A, NT_167247.2:g.2934577T>A, NT_167247.1:g.2940162T>A, NT_167246.2:g.2897725T>A, NT_167246.1:g.2903345T>A, NT_167248.2:g.2848505T>A, NT_167248.1:g.2854101T>A, XM_006715049.4:c.38A>T, XM_006715049.3:c.38A>T, XM_006715049.2:c.38A>T, XM_006715049.1:c.38A>T, XM_011514459.3:c.38A>T, XM_011514459.2:c.38A>T, XM_011514459.1:c.38A>T, NP_667341.1:p.His13Leu, NP_001138938.1:p.His13Leu, NP_001138939.1:p.His13Leu, XP_006715112.1:p.His13Leu, XP_011512761.1:p.His13Leu

Select item 136069974819.

rs1360699748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31590017 (GRCh38)
6:31557794 (GRCh37)
Canonical SPDI:: NC_000006.12:31590016:G:A
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31590017G>A, NC_000006.11:g.31557794G>A, NG_021176.1:g.7969C>T, NM_147130.3:c.153C>T, NM_147130.2:c.153C>T, NM_001145466.2:c.153C>T, NM_001145466.1:c.153C>T, NM_001145467.2:c.153C>T, NM_001145467.1:c.153C>T, NG_030378.1:g.8839G>A, NT_113891.3:g.3067300G>A, NT_113891.2:g.3067406G>A, NT_167245.2:g.2837754G>A, NT_167245.1:g.2843339G>A, NT_167244.2:g.2922596G>A, NT_167244.1:g.2872512G>A, NT_167249.2:g.2889298G>A, NT_167249.1:g.2888596G>A, NT_167247.2:g.2931910G>A, NT_167247.1:g.2937495G>A, NT_167246.2:g.2895058G>A, NT_167246.1:g.2900678G>A, NT_167248.2:g.2845840G>A, NT_167248.1:g.2851436G>A, XM_006715049.4:c.153C>T, XM_006715049.3:c.153C>T, XM_006715049.2:c.153C>T, XM_006715049.1:c.153C>T, XM_011514459.3:c.153C>T, XM_011514459.2:c.153C>T, XM_011514459.1:c.153C>T

Select item 135626533920.

rs1356265339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31590098 (GRCh38)
6:31557875 (GRCh37)
Canonical SPDI:: NC_000006.12:31590097:G:A
Gene:: NCR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31590098G>A, NC_000006.11:g.31557875G>A, NG_021176.1:g.7888C>T, NM_147130.3:c.72C>T, NM_147130.2:c.72C>T, NM_001145466.2:c.72C>T, NM_001145466.1:c.72C>T, NM_001145467.2:c.72C>T, NM_001145467.1:c.72C>T, NG_030378.1:g.8920G>A, NT_113891.3:g.3067381G>A, NT_113891.2:g.3067487G>A, NT_167245.2:g.2837835G>A, NT_167245.1:g.2843420G>A, NT_167244.2:g.2922677G>A, NT_167244.1:g.2872593G>A, NT_167249.2:g.2889379G>A, NT_167249.1:g.2888677G>A, NT_167247.2:g.2931991G>A, NT_167247.1:g.2937576G>A, NT_167246.2:g.2895139G>A, NT_167246.1:g.2900759G>A, NT_167248.2:g.2845921G>A, NT_167248.1:g.2851517G>A, XM_006715049.4:c.72C>T, XM_006715049.3:c.72C>T, XM_006715049.2:c.72C>T, XM_006715049.1:c.72C>T, XM_011514459.3:c.72C>T, XM_011514459.2:c.72C>T, XM_011514459.1:c.72C>T

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