SNP Links for Protein (Select 159032029) - SNP

Links from Protein

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Select item 14893866581.

rs1489386658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196885849 (GRCh38)
3:196612720 (GRCh37)
Canonical SPDI:: NC_000003.12:196885848:G:A
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.196885849G>A, NC_000003.11:g.196612720G>A, NM_152699.5:c.668G>A, NM_152699.4:c.668G>A, XM_005269310.4:c.668G>A, XM_005269310.3:c.668G>A, XM_005269310.2:c.668G>A, XM_005269310.1:c.668G>A, NM_001308045.2:c.668G>A, NM_001308045.1:c.668G>A, XM_047447675.1:c.668G>A, XM_047447674.1:c.668G>A, XM_047447676.1:c.668G>A, NP_689912.2:p.Arg223Lys, XP_005269367.1:p.Arg223Lys, NP_001294974.1:p.Arg223Lys, XP_047303631.1:p.Arg223Lys, XP_047303630.1:p.Arg223Lys, XP_047303632.1:p.Arg223Lys

Select item 14877344162.

rs1487734416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196885740 (GRCh38)
3:196612611 (GRCh37)
Canonical SPDI:: NC_000003.12:196885739:T:C
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196885740T>C, NC_000003.11:g.196612611T>C, NM_152699.5:c.559T>C, NM_152699.4:c.559T>C, XM_005269310.4:c.559T>C, XM_005269310.3:c.559T>C, XM_005269310.2:c.559T>C, XM_005269310.1:c.559T>C, NM_001308045.2:c.559T>C, NM_001308045.1:c.559T>C, XM_047447675.1:c.559T>C, XM_047447674.1:c.559T>C, XM_047447676.1:c.559T>C

Select item 14867151533.

rs1486715153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196885524 (GRCh38)
3:196612395 (GRCh37)
Canonical SPDI:: NC_000003.12:196885523:C:T
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196885524C>T, NC_000003.11:g.196612395C>T, NM_152699.5:c.343C>T, NM_152699.4:c.343C>T, XM_005269310.4:c.343C>T, XM_005269310.3:c.343C>T, XM_005269310.2:c.343C>T, XM_005269310.1:c.343C>T, NM_001308045.2:c.343C>T, NM_001308045.1:c.343C>T, XM_047447675.1:c.343C>T, XM_047447674.1:c.343C>T, XM_047447676.1:c.343C>T, NP_689912.2:p.Gln115Ter, XP_005269367.1:p.Gln115Ter, NP_001294974.1:p.Gln115Ter, XP_047303631.1:p.Gln115Ter, XP_047303630.1:p.Gln115Ter, XP_047303632.1:p.Gln115Ter

Select item 14862658194.

rs1486265819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196886164 (GRCh38)
3:196613035 (GRCh37)
Canonical SPDI:: NC_000003.12:196886163:C:T
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.196886164C>T, NC_000003.11:g.196613035C>T, NM_152699.5:c.983C>T, NM_152699.4:c.983C>T, XM_005269310.4:c.983C>T, XM_005269310.3:c.983C>T, XM_005269310.2:c.983C>T, XM_005269310.1:c.983C>T, NM_001308045.2:c.983C>T, NM_001308045.1:c.983C>T, XM_047447675.1:c.983C>T, XM_047447674.1:c.983C>T, XM_047447676.1:c.983C>T, NP_689912.2:p.Thr328Ile, XP_005269367.1:p.Thr328Ile, NP_001294974.1:p.Thr328Ile, XP_047303631.1:p.Thr328Ile, XP_047303630.1:p.Thr328Ile, XP_047303632.1:p.Thr328Ile

Select item 14857585935.

rs1485758593 [Homo sapiens]

Variant type:: DEL
Alleles:: GAC>- [Show Flanks]
Chromosome:: 3:196886406 (GRCh38)
3:196613277 (GRCh37)
Canonical SPDI:: NC_000003.12:196886405:GAC:
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196886406_196886408del, NC_000003.11:g.196613277_196613279del, NM_152699.5:c.1225_1227del, NM_152699.4:c.1225_1227del, XM_005269310.4:c.1225_1227del, XM_005269310.3:c.1225_1227del, XM_005269310.2:c.1225_1227del, XM_005269310.1:c.1225_1227del, NM_001308045.2:c.1225_1227del, NM_001308045.1:c.1225_1227del, XM_047447675.1:c.1225_1227del, XM_047447674.1:c.1225_1227del, XM_047447676.1:c.1225_1227del, NP_689912.2:p.Asp409del, XP_005269367.1:p.Asp409del, NP_001294974.1:p.Asp409del, XP_047303631.1:p.Asp409del, XP_047303630.1:p.Asp409del, XP_047303632.1:p.Asp409del

Select item 14837770426.

rs1483777042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196885664 (GRCh38)
3:196612535 (GRCh37)
Canonical SPDI:: NC_000003.12:196885663:A:G
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196885664A>G, NC_000003.11:g.196612535A>G, NM_152699.5:c.483A>G, NM_152699.4:c.483A>G, XM_005269310.4:c.483A>G, XM_005269310.3:c.483A>G, XM_005269310.2:c.483A>G, XM_005269310.1:c.483A>G, NM_001308045.2:c.483A>G, NM_001308045.1:c.483A>G, XM_047447675.1:c.483A>G, XM_047447674.1:c.483A>G, XM_047447676.1:c.483A>G

Select item 14837074357.

rs1483707435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196886236 (GRCh38)
3:196613107 (GRCh37)
Canonical SPDI:: NC_000003.12:196886235:C:T
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.196886236C>T, NC_000003.11:g.196613107C>T, NM_152699.5:c.1055C>T, NM_152699.4:c.1055C>T, XM_005269310.4:c.1055C>T, XM_005269310.3:c.1055C>T, XM_005269310.2:c.1055C>T, XM_005269310.1:c.1055C>T, NM_001308045.2:c.1055C>T, NM_001308045.1:c.1055C>T, XM_047447675.1:c.1055C>T, XM_047447674.1:c.1055C>T, XM_047447676.1:c.1055C>T, NP_689912.2:p.Ala352Val, XP_005269367.1:p.Ala352Val, NP_001294974.1:p.Ala352Val, XP_047303631.1:p.Ala352Val, XP_047303630.1:p.Ala352Val, XP_047303632.1:p.Ala352Val

Select item 14807334068.

rs1480733406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196886213 (GRCh38)
3:196613084 (GRCh37)
Canonical SPDI:: NC_000003.12:196886212:C:T
Gene:: SENP5 (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)
HGVS:: NC_000003.12:g.196886213C>T, NC_000003.11:g.196613084C>T, NM_152699.5:c.1032C>T, NM_152699.4:c.1032C>T, XM_005269310.4:c.1032C>T, XM_005269310.3:c.1032C>T, XM_005269310.2:c.1032C>T, XM_005269310.1:c.1032C>T, NM_001308045.2:c.1032C>T, NM_001308045.1:c.1032C>T, XM_047447675.1:c.1032C>T, XM_047447674.1:c.1032C>T, XM_047447676.1:c.1032C>T

Select item 14774190869.

rs1477419086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:196886343 (GRCh38)
3:196613214 (GRCh37)
Canonical SPDI:: NC_000003.12:196886342:T:G
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196886343T>G, NC_000003.11:g.196613214T>G, NM_152699.5:c.1162T>G, NM_152699.4:c.1162T>G, XM_005269310.4:c.1162T>G, XM_005269310.3:c.1162T>G, XM_005269310.2:c.1162T>G, XM_005269310.1:c.1162T>G, NM_001308045.2:c.1162T>G, NM_001308045.1:c.1162T>G, XM_047447675.1:c.1162T>G, XM_047447674.1:c.1162T>G, XM_047447676.1:c.1162T>G, NP_689912.2:p.Ser388Ala, XP_005269367.1:p.Ser388Ala, NP_001294974.1:p.Ser388Ala, XP_047303631.1:p.Ser388Ala, XP_047303630.1:p.Ser388Ala, XP_047303632.1:p.Ser388Ala

Select item 147723582610.

rs1477235826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196885672 (GRCh38)
3:196612543 (GRCh37)
Canonical SPDI:: NC_000003.12:196885671:C:T
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196885672C>T, NC_000003.11:g.196612543C>T, NM_152699.5:c.491C>T, NM_152699.4:c.491C>T, XM_005269310.4:c.491C>T, XM_005269310.3:c.491C>T, XM_005269310.2:c.491C>T, XM_005269310.1:c.491C>T, NM_001308045.2:c.491C>T, NM_001308045.1:c.491C>T, XM_047447675.1:c.491C>T, XM_047447674.1:c.491C>T, XM_047447676.1:c.491C>T, NP_689912.2:p.Ser164Phe, XP_005269367.1:p.Ser164Phe, NP_001294974.1:p.Ser164Phe, XP_047303631.1:p.Ser164Phe, XP_047303630.1:p.Ser164Phe, XP_047303632.1:p.Ser164Phe

Select item 147552641311.

rs1475526413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196899995 (GRCh38)
3:196626866 (GRCh37)
Canonical SPDI:: NC_000003.12:196899994:A:G
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.196899995A>G, NC_000003.11:g.196626866A>G, NM_152699.5:c.1691A>G, NM_152699.4:c.1691A>G, XM_005269310.4:c.1691A>G, XM_005269310.3:c.1691A>G, XM_005269310.2:c.1691A>G, XM_005269310.1:c.1691A>G, NM_001308045.2:c.1691A>G, NM_001308045.1:c.1691A>G, XM_047447675.1:c.1691A>G, XM_047447674.1:c.1691A>G, XM_047447676.1:c.1691A>G, NP_689912.2:p.Tyr564Cys, XP_005269367.1:p.Tyr564Cys, NP_001294974.1:p.Tyr564Cys, XP_047303631.1:p.Tyr564Cys, XP_047303630.1:p.Tyr564Cys, XP_047303632.1:p.Tyr564Cys

Select item 147499010912.

rs1474990109 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:196885746 (GRCh38)
3:196612617 (GRCh37)
Canonical SPDI:: NC_000003.12:196885745:AA:A
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.196885747del, NC_000003.11:g.196612618del, NM_152699.5:c.566del, NM_152699.4:c.566del, XM_005269310.4:c.566del, XM_005269310.3:c.566del, XM_005269310.2:c.566del, XM_005269310.1:c.566del, NM_001308045.2:c.566del, NM_001308045.1:c.566del, XM_047447675.1:c.566del, XM_047447674.1:c.566del, XM_047447676.1:c.566del, NP_689912.2:p.Asn189fs, XP_005269367.1:p.Asn189fs, NP_001294974.1:p.Asn189fs, XP_047303631.1:p.Asn189fs, XP_047303630.1:p.Asn189fs, XP_047303632.1:p.Asn189fs

Select item 147494473213.

rs1474944732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196886365 (GRCh38)
3:196613236 (GRCh37)
Canonical SPDI:: NC_000003.12:196886364:T:C
Gene:: SENP5 (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_000003.12:g.196886365T>C, NC_000003.11:g.196613236T>C, NM_152699.5:c.1184T>C, NM_152699.4:c.1184T>C, XM_005269310.4:c.1184T>C, XM_005269310.3:c.1184T>C, XM_005269310.2:c.1184T>C, XM_005269310.1:c.1184T>C, NM_001308045.2:c.1184T>C, NM_001308045.1:c.1184T>C, XM_047447675.1:c.1184T>C, XM_047447674.1:c.1184T>C, XM_047447676.1:c.1184T>C, NP_689912.2:p.Met395Thr, XP_005269367.1:p.Met395Thr, NP_001294974.1:p.Met395Thr, XP_047303631.1:p.Met395Thr, XP_047303630.1:p.Met395Thr, XP_047303632.1:p.Met395Thr

Select item 147386162714.

rs1473861627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196885241 (GRCh38)
3:196612112 (GRCh37)
Canonical SPDI:: NC_000003.12:196885240:A:G
Gene:: SENP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196885241A>G, NC_000003.11:g.196612112A>G, NM_152699.5:c.60A>G, NM_152699.4:c.60A>G, XM_005269310.4:c.60A>G, XM_005269310.3:c.60A>G, XM_005269310.2:c.60A>G, XM_005269310.1:c.60A>G, NM_001308045.2:c.60A>G, NM_001308045.1:c.60A>G, XM_047447675.1:c.60A>G, XM_047447674.1:c.60A>G, XM_047447676.1:c.60A>G

Select item 147323082315.

rs1473230823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196899968 (GRCh38)
3:196626839 (GRCh37)
Canonical SPDI:: NC_000003.12:196899967:A:G
Gene:: SENP5 (Varview)
Functional Consequence:: 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_000003.12:g.196899968A>G, NC_000003.11:g.196626839A>G, NM_152699.5:c.1664A>G, NM_152699.4:c.1664A>G, XM_005269310.4:c.1664A>G, XM_005269310.3:c.1664A>G, XM_005269310.2:c.1664A>G, XM_005269310.1:c.1664A>G, NM_001308045.2:c.1664A>G, NM_001308045.1:c.1664A>G, XM_047447675.1:c.1664A>G, XM_047447674.1:c.1664A>G, XM_047447676.1:c.1664A>G, NP_689912.2:p.His555Arg, XP_005269367.1:p.His555Arg, NP_001294974.1:p.His555Arg, XP_047303631.1:p.His555Arg, XP_047303630.1:p.His555Arg, XP_047303632.1:p.His555Arg

Select item 147213892116.

rs1472138921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:196927854 (GRCh38)
3:196654725 (GRCh37)
Canonical SPDI:: NC_000003.12:196927853:A:C
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196927854A>C, NC_000003.11:g.196654725A>C, NM_152699.5:c.2081A>C, NM_152699.4:c.2081A>C, NM_001308045.2:c.1943A>C, NM_001308045.1:c.1943A>C, NP_689912.2:p.Gln694Pro, NP_001294974.1:p.Gln648Pro

Select item 147168517217.

rs1471685172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:196885867 (GRCh38)
3:196612738 (GRCh37)
Canonical SPDI:: NC_000003.12:196885866:C:G,NC_000003.12:196885866:C:T
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.196885867C>G, NC_000003.12:g.196885867C>T, NC_000003.11:g.196612738C>G, NC_000003.11:g.196612738C>T, NM_152699.5:c.686C>G, NM_152699.5:c.686C>T, NM_152699.4:c.686C>G, NM_152699.4:c.686C>T, XM_005269310.4:c.686C>G, XM_005269310.4:c.686C>T, XM_005269310.3:c.686C>G, XM_005269310.3:c.686C>T, XM_005269310.2:c.686C>G, XM_005269310.2:c.686C>T, XM_005269310.1:c.686C>G, XM_005269310.1:c.686C>T, NM_001308045.2:c.686C>G, NM_001308045.2:c.686C>T, NM_001308045.1:c.686C>G, NM_001308045.1:c.686C>T, XM_047447675.1:c.686C>G, XM_047447675.1:c.686C>T, XM_047447674.1:c.686C>G, XM_047447674.1:c.686C>T, XM_047447676.1:c.686C>G, XM_047447676.1:c.686C>T, NP_689912.2:p.Pro229Arg, NP_689912.2:p.Pro229Leu, XP_005269367.1:p.Pro229Arg, XP_005269367.1:p.Pro229Leu, NP_001294974.1:p.Pro229Arg, NP_001294974.1:p.Pro229Leu, XP_047303631.1:p.Pro229Arg, XP_047303631.1:p.Pro229Leu, XP_047303630.1:p.Pro229Arg, XP_047303630.1:p.Pro229Leu, XP_047303632.1:p.Pro229Arg, XP_047303632.1:p.Pro229Leu

Select item 146962345518.

rs1469623455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196923495 (GRCh38)
3:196650366 (GRCh37)
Canonical SPDI:: NC_000003.12:196923494:A:G
Gene:: SENP5 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196923495A>G, NC_000003.11:g.196650366A>G, NM_152699.5:c.1966A>G, NM_152699.4:c.1966A>G, XM_005269310.4:c.1966A>G, XM_005269310.3:c.1966A>G, XM_005269310.2:c.1966A>G, XM_005269310.1:c.1966A>G, XM_047447676.1:c.*123A>G, NP_689912.2:p.Asn656Asp, XP_005269367.1:p.Asn656Asp

Select item 146768874019.

rs1467688740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:196885580 (GRCh38)
3:196612451 (GRCh37)
Canonical SPDI:: NC_000003.12:196885579:G:C,NC_000003.12:196885579:G:T
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196885580G>C, NC_000003.12:g.196885580G>T, NC_000003.11:g.196612451G>C, NC_000003.11:g.196612451G>T, NM_152699.5:c.399G>C, NM_152699.5:c.399G>T, NM_152699.4:c.399G>C, NM_152699.4:c.399G>T, XM_005269310.4:c.399G>C, XM_005269310.4:c.399G>T, XM_005269310.3:c.399G>C, XM_005269310.3:c.399G>T, XM_005269310.2:c.399G>C, XM_005269310.2:c.399G>T, XM_005269310.1:c.399G>C, XM_005269310.1:c.399G>T, NM_001308045.2:c.399G>C, NM_001308045.2:c.399G>T, NM_001308045.1:c.399G>C, NM_001308045.1:c.399G>T, XM_047447675.1:c.399G>C, XM_047447675.1:c.399G>T, XM_047447674.1:c.399G>C, XM_047447674.1:c.399G>T, XM_047447676.1:c.399G>C, XM_047447676.1:c.399G>T, NP_689912.2:p.Glu133Asp, NP_689912.2:p.Glu133Asp, XP_005269367.1:p.Glu133Asp, XP_005269367.1:p.Glu133Asp, NP_001294974.1:p.Glu133Asp, NP_001294974.1:p.Glu133Asp, XP_047303631.1:p.Glu133Asp, XP_047303631.1:p.Glu133Asp, XP_047303630.1:p.Glu133Asp, XP_047303630.1:p.Glu133Asp, XP_047303632.1:p.Glu133Asp, XP_047303632.1:p.Glu133Asp

Select item 146654955120.

rs1466549551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:196886047 (GRCh38)
3:196612918 (GRCh37)
Canonical SPDI:: NC_000003.12:196886046:G:A,NC_000003.12:196886046:G:T
Gene:: SENP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196886047G>A, NC_000003.12:g.196886047G>T, NC_000003.11:g.196612918G>A, NC_000003.11:g.196612918G>T, NM_152699.5:c.866G>A, NM_152699.5:c.866G>T, NM_152699.4:c.866G>A, NM_152699.4:c.866G>T, XM_005269310.4:c.866G>A, XM_005269310.4:c.866G>T, XM_005269310.3:c.866G>A, XM_005269310.3:c.866G>T, XM_005269310.2:c.866G>A, XM_005269310.2:c.866G>T, XM_005269310.1:c.866G>A, XM_005269310.1:c.866G>T, NM_001308045.2:c.866G>A, NM_001308045.2:c.866G>T, NM_001308045.1:c.866G>A, NM_001308045.1:c.866G>T, XM_047447675.1:c.866G>A, XM_047447675.1:c.866G>T, XM_047447674.1:c.866G>A, XM_047447674.1:c.866G>T, XM_047447676.1:c.866G>A, XM_047447676.1:c.866G>T, NP_689912.2:p.Ser289Asn, NP_689912.2:p.Ser289Ile, XP_005269367.1:p.Ser289Asn, XP_005269367.1:p.Ser289Ile, NP_001294974.1:p.Ser289Asn, NP_001294974.1:p.Ser289Ile, XP_047303631.1:p.Ser289Asn, XP_047303631.1:p.Ser289Ile, XP_047303630.1:p.Ser289Asn, XP_047303630.1:p.Ser289Ile, XP_047303632.1:p.Ser289Asn, XP_047303632.1:p.Ser289Ile

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