SNP Links for Protein (Select 574584850) - SNP

Links from Protein

Items: 1 to 20 of 490

<< First< Prev

Page of 25

Next >Last >>

Select item 14872009851.

rs1487200985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33266564 (GRCh38)
6:33234341 (GRCh37)
Canonical SPDI:: NC_000006.12:33266563:A:C
Gene:: VPS52 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33266564A>C, NC_000006.11:g.33234341A>C, NT_113891.3:g.4678045A>C, NT_113891.2:g.4678151A>C, NT_167248.2:g.4460994A>C, NT_167248.1:g.4466590A>C, NT_167245.2:g.4510078A>C, NT_167245.1:g.4515663A>C, NT_167249.2:g.4715248A>C, NT_167249.1:g.4714546A>C, NT_167247.2:g.4702529A>C, NT_167247.1:g.4708114A>C, NM_022553.6:c.1274T>G, NM_022553.5:c.1274T>G, NM_022553.4:c.1274T>G, XM_011514798.3:c.1073T>G, XM_011514798.2:c.1073T>G, XM_011514798.1:c.1073T>G, XM_011514797.2:c.1073T>G, XM_011514797.1:c.1073T>G, NM_001289174.2:c.1073T>G, NM_001289174.1:c.1073T>G, XM_011514799.2:c.1073T>G, XM_011514799.1:c.1073T>G, NM_080564.1:c.1274T>G, NM_001289175.1:c.899T>G, NM_001289176.1:c.707T>G, NP_072047.4:p.Met425Arg, XP_011513100.1:p.Met358Arg, XP_011513099.1:p.Met358Arg, NP_001276103.1:p.Met358Arg, XP_011513101.1:p.Met358Arg, NP_001276104.1:p.Met300Arg, NP_001276105.1:p.Met236Arg

Select item 14862876492.

rs1486287649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33251950 (GRCh38)
6:33219727 (GRCh37)
Canonical SPDI:: NC_000006.12:33251949:A:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33251950A>T, NC_000006.11:g.33219727A>T, NT_113891.3:g.4663447A>T, NT_113891.2:g.4663553A>T, NT_167248.2:g.4446350A>T, NT_167248.1:g.4451946A>T, NT_167245.2:g.4495462A>T, NT_167245.1:g.4501047A>T, NT_167249.2:g.4700654A>T, NT_167249.1:g.4699952A>T, NT_167246.2:g.4671411A>T, NT_167246.1:g.4677031A>T, NT_167247.2:g.4687932A>T, NT_167247.1:g.4693517A>T, NM_022553.6:c.1816T>A, NM_022553.5:c.1816T>A, NM_022553.4:c.1816T>A, XM_011514798.3:c.1615T>A, XM_011514798.2:c.1615T>A, XM_011514798.1:c.1615T>A, NM_001289174.2:c.1615T>A, NM_001289174.1:c.1615T>A, XM_011514799.2:c.1615T>A, XM_011514799.1:c.1615T>A, NM_080564.1:c.1816T>A, NM_001289175.1:c.1441T>A, NM_001289176.1:c.1249T>A, XM_011514797.2:c.1615T>A, XM_011514797.1:c.1615T>A, NP_072047.4:p.Ser606Thr, XP_011513100.1:p.Ser539Thr, NP_001276103.1:p.Ser539Thr, XP_011513101.1:p.Ser539Thr, NP_001276104.1:p.Ser481Thr, NP_001276105.1:p.Ser417Thr, XP_011513099.1:p.Ser539Thr

Select item 14860695963.

rs1486069596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33251539 (GRCh38)
6:33219316 (GRCh37)
Canonical SPDI:: NC_000006.12:33251538:T:C
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33251539T>C, NC_000006.11:g.33219316T>C, NT_113891.3:g.4663036T>C, NT_113891.2:g.4663142T>C, NT_167248.2:g.4445939T>C, NT_167248.1:g.4451535T>C, NT_167245.2:g.4495051T>C, NT_167245.1:g.4500636T>C, NT_167249.2:g.4700243T>C, NT_167249.1:g.4699541T>C, NT_167246.2:g.4671000T>C, NT_167246.1:g.4676620T>C, NT_167247.2:g.4687521T>C, NT_167247.1:g.4693106T>C, NM_022553.6:c.2004A>G, NM_022553.5:c.2004A>G, NM_022553.4:c.2004A>G, NM_080564.1:c.2004A>G, XM_011514798.3:c.1803A>G, XM_011514798.2:c.1803A>G, XM_011514798.1:c.1803A>G, NM_001289174.2:c.1803A>G, NM_001289174.1:c.1803A>G, XM_011514799.2:c.1803A>G, XM_011514799.1:c.1803A>G, NM_001289175.1:c.1629A>G, NM_001289176.1:c.1437A>G, NR_044997.1:n.343T>C, XM_011514797.2:c.1803A>G, XM_011514797.1:c.1803A>G

Select item 14825543984.

rs1482554398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33251612 (GRCh38)
6:33219389 (GRCh37)
Canonical SPDI:: NC_000006.12:33251611:C:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33251612C>T, NC_000006.11:g.33219389C>T, NT_113891.3:g.4663109C>T, NT_113891.2:g.4663215C>T, NT_167248.2:g.4446012C>T, NT_167248.1:g.4451608C>T, NT_167245.2:g.4495124C>T, NT_167245.1:g.4500709C>T, NT_167249.2:g.4700316C>T, NT_167249.1:g.4699614C>T, NT_167246.2:g.4671073C>T, NT_167246.1:g.4676693C>T, NT_167247.2:g.4687594C>T, NT_167247.1:g.4693179C>T, NM_022553.6:c.1931G>A, NM_022553.5:c.1931G>A, NM_022553.4:c.1931G>A, XM_011514798.3:c.1730G>A, XM_011514798.2:c.1730G>A, XM_011514798.1:c.1730G>A, NM_001289174.2:c.1730G>A, NM_001289174.1:c.1730G>A, XM_011514799.2:c.1730G>A, XM_011514799.1:c.1730G>A, NM_001289175.1:c.1556G>A, NM_080564.1:c.1931G>A, NM_001289176.1:c.1364G>A, NR_044997.1:n.416C>T, XM_011514797.2:c.1730G>A, XM_011514797.1:c.1730G>A, NP_072047.4:p.Gly644Asp, XP_011513100.1:p.Gly577Asp, NP_001276103.1:p.Gly577Asp, XP_011513101.1:p.Gly577Asp, NP_001276104.1:p.Gly519Asp, NP_001276105.1:p.Gly455Asp, XP_011513099.1:p.Gly577Asp

Select item 14822396175.

rs1482239617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33268640 (GRCh38)
6:33236417 (GRCh37)
Canonical SPDI:: NC_000006.12:33268639:C:T
Gene:: VPS52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.33268640C>T, NC_000006.11:g.33236417C>T, NT_113891.3:g.4680121C>T, NT_113891.2:g.4680227C>T, NT_167248.2:g.4463070C>T, NT_167248.1:g.4468666C>T, NT_167245.2:g.4512154C>T, NT_167245.1:g.4517739C>T, NT_167249.2:g.4717324C>T, NT_167249.1:g.4716622C>T, NT_167247.2:g.4704605C>T, NT_167247.1:g.4710190C>T, NM_022553.6:c.558G>A, NM_022553.5:c.558G>A, NM_022553.4:c.558G>A, XM_011514798.3:c.357G>A, XM_011514798.2:c.357G>A, XM_011514798.1:c.357G>A, XM_017011179.3:c.558G>A, XM_017011179.2:c.558G>A, XM_017011179.1:c.558G>A, NM_001289174.2:c.357G>A, NM_001289174.1:c.357G>A, XM_011514797.2:c.357G>A, XM_011514797.1:c.357G>A, XM_011514799.2:c.357G>A, XM_011514799.1:c.357G>A, NM_080564.1:c.558G>A, NM_001289175.1:c.183G>A, NM_001289176.1:c.183G>A

Select item 14821913416.

rs1482191341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33268154 (GRCh38)
6:33235931 (GRCh37)
Canonical SPDI:: NC_000006.12:33268153:G:A
Gene:: VPS52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33268154G>A, NC_000006.11:g.33235931G>A, NT_113891.3:g.4679635G>A, NT_113891.2:g.4679741G>A, NT_167248.2:g.4462584G>A, NT_167248.1:g.4468180G>A, NT_167245.2:g.4511668G>A, NT_167245.1:g.4517253G>A, NT_167249.2:g.4716838G>A, NT_167249.1:g.4716136G>A, NT_167247.2:g.4704119G>A, NT_167247.1:g.4709704G>A, NM_022553.6:c.754C>T, NM_022553.5:c.754C>T, NM_022553.4:c.754C>T, XM_011514799.2:c.553C>T, XM_011514799.1:c.553C>T, XM_011514798.3:c.553C>T, XM_011514798.2:c.553C>T, XM_011514798.1:c.553C>T, XM_017011179.3:c.754C>T, XM_017011179.2:c.754C>T, XM_017011179.1:c.754C>T, NM_001289174.2:c.553C>T, NM_001289174.1:c.553C>T, XM_011514797.2:c.553C>T, XM_011514797.1:c.553C>T, NM_080564.1:c.754C>T, NM_001289175.1:c.379C>T, NM_001289176.1:c.379C>T, NP_072047.4:p.Pro252Ser, XP_011513101.1:p.Pro185Ser, XP_011513100.1:p.Pro185Ser, XP_016866668.1:p.Pro252Ser, NP_001276103.1:p.Pro185Ser, XP_011513099.1:p.Pro185Ser, NP_001276104.1:p.Pro127Ser, NP_001276105.1:p.Pro127Ser

Select item 14799545247.

rs1479954524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33267233 (GRCh38)
6:33235010 (GRCh37)
Canonical SPDI:: NC_000006.12:33267232:C:T
Gene:: VPS52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33267233C>T, NC_000006.11:g.33235010C>T, NT_113891.3:g.4678714C>T, NT_113891.2:g.4678820C>T, NT_167248.2:g.4461663C>T, NT_167248.1:g.4467259C>T, NT_167245.2:g.4510747C>T, NT_167245.1:g.4516332C>T, NT_167249.2:g.4715917C>T, NT_167249.1:g.4715215C>T, NT_167247.2:g.4703198C>T, NT_167247.1:g.4708783C>T, NM_022553.6:c.1080G>A, NM_022553.5:c.1080G>A, NM_022553.4:c.1080G>A, XM_011514799.2:c.879G>A, XM_011514799.1:c.879G>A, XM_011514798.3:c.879G>A, XM_011514798.2:c.879G>A, XM_011514798.1:c.879G>A, XM_017011179.3:c.1080G>A, XM_017011179.2:c.1080G>A, XM_017011179.1:c.1080G>A, NM_001289174.2:c.879G>A, NM_001289174.1:c.879G>A, XM_011514797.2:c.879G>A, XM_011514797.1:c.879G>A, NM_080564.1:c.1080G>A, NM_001289175.1:c.705G>A

Select item 14738160718.

rs1473816071 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:33267239 (GRCh38)
6:33235017 (GRCh37)
Canonical SPDI:: NC_000006.12:33267239::C
Gene:: VPS52 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33267239_33267240insC, NC_000006.11:g.33235016_33235017insC, NT_113891.3:g.4678720_4678721insC, NT_113891.2:g.4678826_4678827insC, NT_167248.2:g.4461669_4461670insC, NT_167248.1:g.4467265_4467266insC, NT_167245.2:g.4510753_4510754insC, NT_167245.1:g.4516338_4516339insC, NT_167249.2:g.4715923_4715924insC, NT_167249.1:g.4715221_4715222insC, NT_167247.2:g.4703204_4703205insC, NT_167247.1:g.4708789_4708790insC, NM_022553.6:c.1073_1074insG, NM_022553.5:c.1073_1074insG, NM_022553.4:c.1073_1074insG, XM_011514798.3:c.872_873insG, XM_011514798.2:c.872_873insG, XM_011514798.1:c.872_873insG, XM_017011179.3:c.1073_1074insG, XM_017011179.2:c.1073_1074insG, XM_017011179.1:c.1073_1074insG, NM_001289174.2:c.872_873insG, NM_001289174.1:c.872_873insG, XM_011514797.2:c.872_873insG, XM_011514797.1:c.872_873insG, XM_011514799.2:c.872_873insG, XM_011514799.1:c.872_873insG, NM_080564.1:c.1073_1074insG, NM_001289175.1:c.698_699insG, NP_072047.4:p.Leu359fs, XP_011513100.1:p.Leu292fs, XP_016866668.1:p.Leu359fs, NP_001276103.1:p.Leu292fs, XP_011513099.1:p.Leu292fs, XP_011513101.1:p.Leu292fs, NP_001276104.1:p.Leu234fs

Select item 14722743099.

rs1472274309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33267309 (GRCh38)
6:33235086 (GRCh37)
Canonical SPDI:: NC_000006.12:33267308:T:C
Gene:: VPS52 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.33267309T>C, NC_000006.11:g.33235086T>C, NT_113891.3:g.4678790T>C, NT_113891.2:g.4678896T>C, NT_167248.2:g.4461739T>C, NT_167248.1:g.4467335T>C, NT_167245.2:g.4510823T>C, NT_167245.1:g.4516408T>C, NT_167249.2:g.4715993T>C, NT_167249.1:g.4715291T>C, NT_167247.2:g.4703274T>C, NT_167247.1:g.4708859T>C, NM_022553.6:c.1004A>G, NM_022553.5:c.1004A>G, NM_022553.4:c.1004A>G, XM_011514798.3:c.803A>G, XM_011514798.2:c.803A>G, XM_011514798.1:c.803A>G, XM_017011179.3:c.1004A>G, XM_017011179.2:c.1004A>G, XM_017011179.1:c.1004A>G, NM_001289174.2:c.803A>G, NM_001289174.1:c.803A>G, XM_011514797.2:c.803A>G, XM_011514797.1:c.803A>G, XM_011514799.2:c.803A>G, XM_011514799.1:c.803A>G, NM_080564.1:c.1004A>G, NM_001289175.1:c.629A>G, NP_072047.4:p.Lys335Arg, XP_011513100.1:p.Lys268Arg, XP_016866668.1:p.Lys335Arg, NP_001276103.1:p.Lys268Arg, XP_011513099.1:p.Lys268Arg, XP_011513101.1:p.Lys268Arg, NP_001276104.1:p.Lys210Arg

Select item 147218138610.

rs1472181386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33267954 (GRCh38)
6:33235731 (GRCh37)
Canonical SPDI:: NC_000006.12:33267953:T:C
Gene:: VPS52 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33267954T>C, NC_000006.11:g.33235731T>C, NT_113891.3:g.4679435T>C, NT_113891.2:g.4679541T>C, NT_167248.2:g.4462384T>C, NT_167248.1:g.4467980T>C, NT_167245.2:g.4511468T>C, NT_167245.1:g.4517053T>C, NT_167249.2:g.4716638T>C, NT_167249.1:g.4715936T>C, NT_167247.2:g.4703919T>C, NT_167247.1:g.4709504T>C, NM_022553.6:c.844A>G, NM_022553.5:c.844A>G, NM_022553.4:c.844A>G, XM_011514799.2:c.643A>G, XM_011514799.1:c.643A>G, XM_011514798.3:c.643A>G, XM_011514798.2:c.643A>G, XM_011514798.1:c.643A>G, XM_017011179.3:c.844A>G, XM_017011179.2:c.844A>G, XM_017011179.1:c.844A>G, NM_001289174.2:c.643A>G, NM_001289174.1:c.643A>G, XM_011514797.2:c.643A>G, XM_011514797.1:c.643A>G, NM_080564.1:c.844A>G, NM_001289175.1:c.469A>G, NM_001289176.1:c.469A>G, NP_072047.4:p.Lys282Glu, XP_011513101.1:p.Lys215Glu, XP_011513100.1:p.Lys215Glu, XP_016866668.1:p.Lys282Glu, NP_001276103.1:p.Lys215Glu, XP_011513099.1:p.Lys215Glu, NP_001276104.1:p.Lys157Glu, NP_001276105.1:p.Lys157Glu

Select item 147184819611.

rs1471848196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33268554 (GRCh38)
6:33236331 (GRCh37)
Canonical SPDI:: NC_000006.12:33268553:C:G
Gene:: VPS52 (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_000006.12:g.33268554C>G, NC_000006.11:g.33236331C>G, NT_113891.3:g.4680035C>G, NT_113891.2:g.4680141C>G, NT_167248.2:g.4462984C>G, NT_167248.1:g.4468580C>G, NT_167245.2:g.4512068C>G, NT_167245.1:g.4517653C>G, NT_167249.2:g.4717238C>G, NT_167249.1:g.4716536C>G, NT_167247.2:g.4704519C>G, NT_167247.1:g.4710104C>G, NM_022553.6:c.644G>C, NM_022553.5:c.644G>C, NM_022553.4:c.644G>C, XM_011514798.3:c.443G>C, XM_011514798.2:c.443G>C, XM_011514798.1:c.443G>C, XM_017011179.3:c.644G>C, XM_017011179.2:c.644G>C, XM_017011179.1:c.644G>C, NM_001289174.2:c.443G>C, NM_001289174.1:c.443G>C, XM_011514797.2:c.443G>C, XM_011514797.1:c.443G>C, XM_011514799.2:c.443G>C, XM_011514799.1:c.443G>C, NM_080564.1:c.644G>C, NM_001289175.1:c.269G>C, NM_001289176.1:c.269G>C, NP_072047.4:p.Arg215Thr, XP_011513100.1:p.Arg148Thr, XP_016866668.1:p.Arg215Thr, NP_001276103.1:p.Arg148Thr, XP_011513099.1:p.Arg148Thr, XP_011513101.1:p.Arg148Thr, NP_001276104.1:p.Arg90Thr, NP_001276105.1:p.Arg90Thr

Select item 146879983812.

rs1468799838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:33268134 (GRCh38)
6:33235911 (GRCh37)
Canonical SPDI:: NC_000006.12:33268133:G:C,NC_000006.12:33268133:G:T
Gene:: VPS52 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33268134G>C, NC_000006.12:g.33268134G>T, NC_000006.11:g.33235911G>C, NC_000006.11:g.33235911G>T, NT_113891.3:g.4679615G>C, NT_113891.3:g.4679615G>T, NT_113891.2:g.4679721G>C, NT_113891.2:g.4679721G>T, NT_167248.2:g.4462564G>C, NT_167248.2:g.4462564G>T, NT_167248.1:g.4468160G>C, NT_167248.1:g.4468160G>T, NT_167245.2:g.4511648G>C, NT_167245.2:g.4511648G>T, NT_167245.1:g.4517233G>C, NT_167245.1:g.4517233G>T, NT_167249.2:g.4716818G>C, NT_167249.2:g.4716818G>T, NT_167249.1:g.4716116G>C, NT_167249.1:g.4716116G>T, NT_167247.2:g.4704099G>C, NT_167247.2:g.4704099G>T, NT_167247.1:g.4709684G>C, NT_167247.1:g.4709684G>T, NM_022553.6:c.774C>G, NM_022553.6:c.774C>A, NM_022553.5:c.774C>G, NM_022553.5:c.774C>A, NM_022553.4:c.774C>G, NM_022553.4:c.774C>A, NM_001289174.1:c.573C>G, NM_001289174.1:c.573C>A, NM_001289174.2:c.573C>G, NM_001289174.2:c.573C>A, XM_011514798.3:c.573C>G, XM_011514798.3:c.573C>A, XM_011514798.2:c.573C>G, XM_011514798.2:c.573C>A, XM_011514798.1:c.573C>G, XM_011514798.1:c.573C>A, XM_017011179.3:c.774C>G, XM_017011179.3:c.774C>A, XM_017011179.2:c.774C>G, XM_017011179.2:c.774C>A, XM_017011179.1:c.774C>G, XM_017011179.1:c.774C>A, XM_011514797.2:c.573C>G, XM_011514797.2:c.573C>A, XM_011514797.1:c.573C>G, XM_011514797.1:c.573C>A, XM_011514799.2:c.573C>G, XM_011514799.2:c.573C>A, XM_011514799.1:c.573C>G, XM_011514799.1:c.573C>A, NM_080564.1:c.774C>G, NM_080564.1:c.774C>A, NM_001289176.1:c.399C>G, NM_001289176.1:c.399C>A, NM_001289175.1:c.399C>G, NM_001289175.1:c.399C>A, NP_072047.4:p.Ile258Met, NP_001276103.1:p.Ile191Met, XP_011513100.1:p.Ile191Met, XP_016866668.1:p.Ile258Met, XP_011513099.1:p.Ile191Met, XP_011513101.1:p.Ile191Met, NP_001276105.1:p.Ile133Met, NP_001276104.1:p.Ile133Met

Select item 146590833113.

rs1465908331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33268200 (GRCh38)
6:33235977 (GRCh37)
Canonical SPDI:: NC_000006.12:33268199:C:T
Gene:: VPS52 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33268200C>T, NC_000006.11:g.33235977C>T, NT_113891.3:g.4679681C>T, NT_113891.2:g.4679787C>T, NT_167248.2:g.4462630C>T, NT_167248.1:g.4468226C>T, NT_167245.2:g.4511714C>T, NT_167245.1:g.4517299C>T, NT_167249.2:g.4716884C>T, NT_167249.1:g.4716182C>T, NT_167247.2:g.4704165C>T, NT_167247.1:g.4709750C>T, NM_022553.6:c.708G>A, NM_022553.5:c.708G>A, NM_022553.4:c.708G>A, XM_011514798.3:c.507G>A, XM_011514798.2:c.507G>A, XM_011514798.1:c.507G>A, XM_017011179.3:c.708G>A, XM_017011179.2:c.708G>A, XM_017011179.1:c.708G>A, NM_001289174.2:c.507G>A, NM_001289174.1:c.507G>A, XM_011514797.2:c.507G>A, XM_011514797.1:c.507G>A, XM_011514799.2:c.507G>A, XM_011514799.1:c.507G>A, NM_080564.1:c.708G>A, NM_001289175.1:c.333G>A, NM_001289176.1:c.333G>A

Select item 146375669214.

rs1463756692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33251879 (GRCh38)
6:33219656 (GRCh37)
Canonical SPDI:: NC_000006.12:33251878:C:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33251879C>T, NC_000006.11:g.33219656C>T, NT_113891.3:g.4663376C>T, NT_113891.2:g.4663482C>T, NT_167248.2:g.4446279C>T, NT_167248.1:g.4451875C>T, NT_167245.2:g.4495391C>T, NT_167245.1:g.4500976C>T, NT_167249.2:g.4700583C>T, NT_167249.1:g.4699881C>T, NT_167246.2:g.4671340C>T, NT_167246.1:g.4676960C>T, NT_167247.2:g.4687861C>T, NT_167247.1:g.4693446C>T, NM_022553.6:c.1887G>A, NM_022553.5:c.1887G>A, NM_022553.4:c.1887G>A, XM_011514798.3:c.1686G>A, XM_011514798.2:c.1686G>A, XM_011514798.1:c.1686G>A, NM_001289174.2:c.1686G>A, NM_001289174.1:c.1686G>A, XM_011514799.2:c.1686G>A, XM_011514799.1:c.1686G>A, NM_080564.1:c.1887G>A, NM_001289175.1:c.1512G>A, NM_001289176.1:c.1320G>A, XM_011514797.2:c.1686G>A, XM_011514797.1:c.1686G>A

Select item 146320353315.

rs1463203533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33269088 (GRCh38)
6:33236865 (GRCh37)
Canonical SPDI:: NC_000006.12:33269087:A:G
Gene:: VPS52 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33269088A>G, NC_000006.11:g.33236865A>G, NT_113891.3:g.4680569A>G, NT_113891.2:g.4680675A>G, NT_167248.2:g.4463518A>G, NT_167248.1:g.4469114A>G, NT_167245.2:g.4512602A>G, NT_167245.1:g.4518187A>G, NT_167249.2:g.4717772A>G, NT_167249.1:g.4717070A>G, NT_167247.2:g.4705053A>G, NT_167247.1:g.4710638A>G, NM_022553.6:c.474T>C, NM_022553.5:c.474T>C, NM_022553.4:c.474T>C, XM_011514799.2:c.273T>C, XM_011514799.1:c.273T>C, XM_011514798.3:c.273T>C, XM_011514798.2:c.273T>C, XM_011514798.1:c.273T>C, XM_017011179.3:c.474T>C, XM_017011179.2:c.474T>C, XM_017011179.1:c.474T>C, NM_001289174.2:c.273T>C, NM_001289174.1:c.273T>C, XM_011514797.2:c.273T>C, XM_011514797.1:c.273T>C, NM_001289175.1:c.99T>C, NM_001289176.1:c.99T>C, NM_080564.1:c.474T>C

Select item 146303386516.

rs1463033865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33264017 (GRCh38)
6:33231794 (GRCh37)
Canonical SPDI:: NC_000006.12:33264016:T:C
Gene:: VPS52 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33264017T>C, NC_000006.11:g.33231794T>C, NT_113891.3:g.4675498T>C, NT_113891.2:g.4675604T>C, NT_167248.2:g.4458447T>C, NT_167248.1:g.4464043T>C, NT_167245.2:g.4507531T>C, NT_167245.1:g.4513116T>C, NT_167249.2:g.4712704T>C, NT_167249.1:g.4712002T>C, NT_167247.2:g.4699984T>C, NT_167247.1:g.4705569T>C, NM_022553.6:c.1611A>G, NM_022553.5:c.1611A>G, NM_022553.4:c.1611A>G, XM_011514798.3:c.1410A>G, XM_011514798.2:c.1410A>G, XM_011514798.1:c.1410A>G, NM_001289174.2:c.1410A>G, NM_001289174.1:c.1410A>G, XM_011514799.2:c.1410A>G, XM_011514799.1:c.1410A>G, XM_011514797.2:c.1410A>G, XM_011514797.1:c.1410A>G, NM_080564.1:c.1611A>G, NM_001289175.1:c.1236A>G, NM_001289176.1:c.1044A>G

Select item 146254297917.

rs1462542979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33264883 (GRCh38)
6:33232660 (GRCh37)
Canonical SPDI:: NC_000006.12:33264882:A:G
Gene:: VPS52 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33264883A>G, NC_000006.11:g.33232660A>G, NT_113891.3:g.4676364A>G, NT_113891.2:g.4676470A>G, NT_167248.2:g.4459313A>G, NT_167248.1:g.4464909A>G, NT_167245.2:g.4508397A>G, NT_167245.1:g.4513982A>G, NT_167249.2:g.4713570A>G, NT_167249.1:g.4712868A>G, NT_167247.2:g.4700850A>G, NT_167247.1:g.4706435A>G, NM_022553.6:c.1299T>C, NM_022553.5:c.1299T>C, NM_022553.4:c.1299T>C, XM_011514798.3:c.1098T>C, XM_011514798.2:c.1098T>C, XM_011514798.1:c.1098T>C, XM_011514797.2:c.1098T>C, XM_011514797.1:c.1098T>C, NM_001289174.2:c.1098T>C, NM_001289174.1:c.1098T>C, XM_011514799.2:c.1098T>C, XM_011514799.1:c.1098T>C, NM_080564.1:c.1299T>C, NM_001289175.1:c.924T>C, NM_001289176.1:c.732T>C

Select item 145704715518.

rs1457047155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33250885 (GRCh38)
6:33218662 (GRCh37)
Canonical SPDI:: NC_000006.12:33250884:G:A
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33250885G>A, NC_000006.11:g.33218662G>A, NT_113891.3:g.4662382G>A, NT_113891.2:g.4662488G>A, NT_167248.2:g.4445285G>A, NT_167248.1:g.4450881G>A, NT_167245.2:g.4494397G>A, NT_167245.1:g.4499982G>A, NT_167249.2:g.4699589G>A, NT_167249.1:g.4698887G>A, NT_167246.2:g.4670346G>A, NT_167246.1:g.4675966G>A, NT_167247.2:g.4686867G>A, NT_167247.1:g.4692452G>A, NM_022553.6:c.2128C>T, NM_022553.5:c.2128C>T, NM_022553.4:c.2128C>T, XM_011514798.3:c.1927C>T, XM_011514798.2:c.1927C>T, XM_011514798.1:c.1927C>T, NM_001289174.2:c.1927C>T, NM_001289174.1:c.1927C>T, XM_011514799.2:c.1927C>T, XM_011514799.1:c.1927C>T, NM_080564.1:c.2128C>T, NM_001289175.1:c.1753C>T, NM_001289176.1:c.1561C>T, XM_011514797.2:c.1927C>T, XM_011514797.1:c.1927C>T, NP_072047.4:p.His710Tyr, XP_011513100.1:p.His643Tyr, NP_001276103.1:p.His643Tyr, XP_011513101.1:p.His643Tyr, NP_001276104.1:p.His585Tyr, NP_001276105.1:p.His521Tyr, XP_011513099.1:p.His643Tyr

Select item 145213742619.

rs1452137426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33267942 (GRCh38)
6:33235719 (GRCh37)
Canonical SPDI:: NC_000006.12:33267941:C:T
Gene:: VPS52 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33267942C>T, NC_000006.11:g.33235719C>T, NT_113891.3:g.4679423C>T, NT_113891.2:g.4679529C>T, NT_167248.2:g.4462372C>T, NT_167248.1:g.4467968C>T, NT_167245.2:g.4511456C>T, NT_167245.1:g.4517041C>T, NT_167249.2:g.4716626C>T, NT_167249.1:g.4715924C>T, NT_167247.2:g.4703907C>T, NT_167247.1:g.4709492C>T, NM_022553.6:c.856G>A, NM_022553.5:c.856G>A, NM_022553.4:c.856G>A, XM_011514798.3:c.655G>A, XM_011514798.2:c.655G>A, XM_011514798.1:c.655G>A, XM_017011179.3:c.856G>A, XM_017011179.2:c.856G>A, XM_017011179.1:c.856G>A, NM_001289174.2:c.655G>A, NM_001289174.1:c.655G>A, XM_011514797.2:c.655G>A, XM_011514797.1:c.655G>A, XM_011514799.2:c.655G>A, XM_011514799.1:c.655G>A, NM_080564.1:c.856G>A, NM_001289175.1:c.481G>A, NM_001289176.1:c.481G>A, NP_072047.4:p.Asp286Asn, XP_011513100.1:p.Asp219Asn, XP_016866668.1:p.Asp286Asn, NP_001276103.1:p.Asp219Asn, XP_011513099.1:p.Asp219Asn, XP_011513101.1:p.Asp219Asn, NP_001276104.1:p.Asp161Asn, NP_001276105.1:p.Asp161Asn

Select item 145198894120.

rs1451988941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33267717 (GRCh38)
6:33235494 (GRCh37)
Canonical SPDI:: NC_000006.12:33267716:T:C
Gene:: VPS52 (Varview)
Functional Consequence:: intron_variant,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.33267717T>C, NC_000006.11:g.33235494T>C, NT_113891.3:g.4679198T>C, NT_113891.2:g.4679304T>C, NT_167248.2:g.4462147T>C, NT_167248.1:g.4467743T>C, NT_167245.2:g.4511231T>C, NT_167245.1:g.4516816T>C, NT_167249.2:g.4716401T>C, NT_167249.1:g.4715699T>C, NT_167247.2:g.4703682T>C, NT_167247.1:g.4709267T>C, NM_022553.6:c.956A>G, NM_022553.5:c.956A>G, NM_022553.4:c.956A>G, XM_011514799.2:c.755A>G, XM_011514799.1:c.755A>G, XM_011514798.3:c.755A>G, XM_011514798.2:c.755A>G, XM_011514798.1:c.755A>G, XM_017011179.3:c.956A>G, XM_017011179.2:c.956A>G, XM_017011179.1:c.956A>G, NM_001289174.2:c.755A>G, NM_001289174.1:c.755A>G, XM_011514797.2:c.755A>G, XM_011514797.1:c.755A>G, NM_001289175.1:c.581A>G, NM_080564.1:c.956A>G, NP_072047.4:p.Asp319Gly, XP_011513101.1:p.Asp252Gly, XP_011513100.1:p.Asp252Gly, XP_016866668.1:p.Asp319Gly, NP_001276103.1:p.Asp252Gly, XP_011513099.1:p.Asp252Gly, NP_001276104.1:p.Asp194Gly

<< First< Prev

Page of 25

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 490

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity