SNP Links for Protein (Select 7705885) - SNP

Links from Protein

Items: 1 to 20 of 184

<< First< Prev

Page of 10

Next >Last >>

Select item 14877312351.

rs1487731235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144424046 (GRCh38)
8:145649429 (GRCh37)
Canonical SPDI:: NC_000008.11:144424045:G:C
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144424046G>C, NW_003315924.1:g.193305G>C, NG_029456.2:g.9499C>G, NM_016208.4:c.543C>G, NM_016208.3:c.543C>G, NM_183057.3:c.543C>G, NM_183057.2:c.543C>G, NW_018654716.1:g.154648G>C, NC_000008.10:g.145649429G>C, XM_005272324.4:c.492C>G, XM_005272324.3:c.492C>G, XM_005272324.2:c.492C>G, XM_005272324.1:c.492C>G, XM_047421845.1:c.429C>G, XM_047421846.1:c.429C>G, NP_057292.1:p.Ser181Arg, NP_898880.1:p.Ser181Arg, XP_005272381.1:p.Ser164Arg, XP_047277801.1:p.Ser143Arg, XP_047277802.1:p.Ser143Arg

Select item 14753400022.

rs1475340002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144424748 (GRCh38)
8:145650131 (GRCh37)
Canonical SPDI:: NC_000008.11:144424747:G:A,NC_000008.11:144424747:G:T
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.144424748G>A, NC_000008.11:g.144424748G>T, NW_003315924.1:g.194007G>A, NW_003315924.1:g.194007G>T, NG_029456.2:g.8797C>T, NG_029456.2:g.8797C>A, NM_016208.4:c.372C>T, NM_016208.4:c.372C>A, NM_016208.3:c.372C>T, NM_016208.3:c.372C>A, NM_183057.3:c.372C>T, NM_183057.3:c.372C>A, NM_183057.2:c.372C>T, NM_183057.2:c.372C>A, NW_018654716.1:g.155350G>A, NW_018654716.1:g.155350G>T, NC_000008.10:g.145650131G>A, NC_000008.10:g.145650131G>T, XM_005272324.4:c.321C>T, XM_005272324.4:c.321C>A, XM_005272324.3:c.321C>T, XM_005272324.3:c.321C>A, XM_005272324.2:c.321C>T, XM_005272324.2:c.321C>A, XM_005272324.1:c.321C>T, XM_005272324.1:c.321C>A, XM_047421845.1:c.258C>T, XM_047421845.1:c.258C>A, XM_047421846.1:c.258C>T, XM_047421846.1:c.258C>A, NP_057292.1:p.Asn124Lys, NP_898880.1:p.Asn124Lys, XP_005272381.1:p.Asn107Lys, XP_047277801.1:p.Asn86Lys, XP_047277802.1:p.Asn86Lys

Select item 14697662423.

rs1469766242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144424222 (GRCh38)
8:145649605 (GRCh37)
Canonical SPDI:: NC_000008.11:144424221:A:G
Gene:: VPS28 (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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144424222A>G, NW_003315924.1:g.193481A>G, NG_029456.2:g.9323T>C, NM_016208.4:c.449T>C, NM_016208.3:c.449T>C, NM_183057.3:c.449T>C, NM_183057.2:c.449T>C, NW_018654716.1:g.154824A>G, NC_000008.10:g.145649605A>G, XM_005272324.4:c.398T>C, XM_005272324.3:c.398T>C, XM_005272324.2:c.398T>C, XM_005272324.1:c.398T>C, XM_047421845.1:c.335T>C, XM_047421846.1:c.335T>C, NP_057292.1:p.Met150Thr, NP_898880.1:p.Met150Thr, XP_005272381.1:p.Met133Thr, XP_047277801.1:p.Met112Thr, XP_047277802.1:p.Met112Thr

Select item 14568166494.

rs1456816649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144424741 (GRCh38)
8:145650124 (GRCh37)
Canonical SPDI:: NC_000008.11:144424740:G:A,NC_000008.11:144424740:G:T
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144424741G>A, NC_000008.11:g.144424741G>T, NW_003315924.1:g.194000G>A, NW_003315924.1:g.194000G>T, NG_029456.2:g.8804C>T, NG_029456.2:g.8804C>A, NM_016208.4:c.379C>T, NM_016208.4:c.379C>A, NM_016208.3:c.379C>T, NM_016208.3:c.379C>A, NM_183057.3:c.379C>T, NM_183057.3:c.379C>A, NM_183057.2:c.379C>T, NM_183057.2:c.379C>A, NW_018654716.1:g.155343G>A, NW_018654716.1:g.155343G>T, NC_000008.10:g.145650124G>A, NC_000008.10:g.145650124G>T, XM_005272324.4:c.328C>T, XM_005272324.4:c.328C>A, XM_005272324.3:c.328C>T, XM_005272324.3:c.328C>A, XM_005272324.2:c.328C>T, XM_005272324.2:c.328C>A, XM_005272324.1:c.328C>T, XM_005272324.1:c.328C>A, XM_047421845.1:c.265C>T, XM_047421845.1:c.265C>A, XM_047421846.1:c.265C>T, XM_047421846.1:c.265C>A, NP_057292.1:p.Arg127Cys, NP_057292.1:p.Arg127Ser, NP_898880.1:p.Arg127Cys, NP_898880.1:p.Arg127Ser, XP_005272381.1:p.Arg110Cys, XP_005272381.1:p.Arg110Ser, XP_047277801.1:p.Arg89Cys, XP_047277801.1:p.Arg89Ser, XP_047277802.1:p.Arg89Cys, XP_047277802.1:p.Arg89Ser

Select item 14555343685.

rs1455534368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144425026 (GRCh38)
8:145650409 (GRCh37)
Canonical SPDI:: NC_000008.11:144425025:G:A
Gene:: VPS28 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.144425026G>A, NW_003315924.1:g.194285G>A, NG_029456.2:g.8519C>T, NM_016208.4:c.220C>T, NM_016208.3:c.220C>T, NM_183057.3:c.220C>T, NM_183057.2:c.220C>T, NW_018654716.1:g.155628G>A, NC_000008.10:g.145650409G>A, XM_047421845.1:c.106C>T, XM_047421846.1:c.106C>T

Select item 14434548876.

rs1443454887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144425003 (GRCh38)
8:145650386 (GRCh37)
Canonical SPDI:: NC_000008.11:144425002:G:A
Gene:: VPS28 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/2 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.144425003G>A, NW_003315924.1:g.194262G>A, NG_029456.2:g.8542C>T, NM_016208.4:c.243C>T, NM_016208.3:c.243C>T, NM_183057.3:c.243C>T, NM_183057.2:c.243C>T, NW_018654716.1:g.155605G>A, NC_000008.10:g.145650386G>A, XM_047421845.1:c.129C>T, XM_047421846.1:c.129C>T

Select item 14410361377.

rs1441036137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144425733 (GRCh38)
8:145651116 (GRCh37)
Canonical SPDI:: NC_000008.11:144425732:T:C
Gene:: VPS28 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144425733T>C, NW_003315924.1:g.194992T>C, NG_029456.2:g.7812A>G, NM_016208.4:c.144A>G, NM_016208.3:c.144A>G, NM_183057.3:c.144A>G, NM_183057.2:c.144A>G, NW_018654716.1:g.156335T>C, NC_000008.10:g.145651116T>C, XM_005272324.4:c.144A>G, XM_005272324.3:c.144A>G, XM_005272324.2:c.144A>G, XM_005272324.1:c.144A>G, XM_047421845.1:c.30A>G, XM_047421846.1:c.30A>G

Select item 14341704408.

rs1434170440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144426043 (GRCh38)
8:145651426 (GRCh37)
Canonical SPDI:: NC_000008.11:144426042:G:A,NC_000008.11:144426042:G:T
Gene:: VPS28 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144426043G>A, NC_000008.11:g.144426043G>T, NW_003315924.1:g.195302G>A, NW_003315924.1:g.195302G>T, NG_029456.2:g.7502C>T, NG_029456.2:g.7502C>A, NM_016208.4:c.87C>T, NM_016208.4:c.87C>A, NM_016208.3:c.87C>T, NM_016208.3:c.87C>A, NM_183057.3:c.87C>T, NM_183057.3:c.87C>A, NM_183057.2:c.87C>T, NM_183057.2:c.87C>A, NW_018654716.1:g.156645G>A, NW_018654716.1:g.156645G>T, NC_000008.10:g.145651426G>A, NC_000008.10:g.145651426G>T, XM_005272324.4:c.87C>T, XM_005272324.4:c.87C>A, XM_005272324.3:c.87C>T, XM_005272324.3:c.87C>A, XM_005272324.2:c.87C>T, XM_005272324.2:c.87C>A, XM_005272324.1:c.87C>T, XM_005272324.1:c.87C>A, XM_047421845.1:c.-132C>T, XM_047421845.1:c.-132C>A, NP_057292.1:p.Asn29Lys, NP_898880.1:p.Asn29Lys, XP_005272381.1:p.Asn29Lys

Select item 14339630869.

rs1433963086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144423888 (GRCh38)
8:145649271 (GRCh37)
Canonical SPDI:: NC_000008.11:144423887:C:A
Gene:: VPS28 (Varview)
Functional Consequence:: stop_gained,stop_lost,terminator_codon_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144423888C>A, NW_003315924.1:g.193147C>A, NG_029456.2:g.9657G>T, NM_016208.4:c.583G>T, NM_016208.3:c.583G>T, NM_183057.3:c.701G>T, NM_183057.2:c.701G>T, NW_018654716.1:g.154490C>A, NC_000008.10:g.145649271C>A, XM_005272324.4:c.532G>T, XM_005272324.3:c.532G>T, XM_005272324.2:c.532G>T, XM_005272324.1:c.532G>T, XM_047421845.1:c.469G>T, XM_047421846.1:c.469G>T, NP_057292.1:p.Glu195Ter, NP_898880.1:p.Ter234Leu, XP_005272381.1:p.Glu178Ter, XP_047277801.1:p.Glu157Ter, XP_047277802.1:p.Glu157Ter

Select item 140555669410.

rs1405556694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144425771 (GRCh38)
8:145651154 (GRCh37)
Canonical SPDI:: NC_000008.11:144425770:A:G
Gene:: VPS28 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_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_000008.11:g.144425771A>G, NW_003315924.1:g.195030A>G, NG_029456.2:g.7774T>C, NM_016208.4:c.106T>C, NM_016208.3:c.106T>C, NM_183057.3:c.106T>C, NM_183057.2:c.106T>C, NW_018654716.1:g.156373A>G, NC_000008.10:g.145651154A>G, XM_005272324.4:c.106T>C, XM_005272324.3:c.106T>C, XM_005272324.2:c.106T>C, XM_005272324.1:c.106T>C, XM_047421845.1:c.-9T>C, XM_047421846.1:c.-9T>C, NP_057292.1:p.Tyr36His, NP_898880.1:p.Tyr36His, XP_005272381.1:p.Tyr36His

Select item 140361655411.

rs1403616554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144424093 (GRCh38)
8:145649476 (GRCh37)
Canonical SPDI:: NC_000008.11:144424092:G:A
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000044/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000008.11:g.144424093G>A, NW_003315924.1:g.193352G>A, NG_029456.2:g.9452C>T, NM_016208.4:c.496C>T, NM_016208.3:c.496C>T, NM_183057.3:c.496C>T, NM_183057.2:c.496C>T, NW_018654716.1:g.154695G>A, NC_000008.10:g.145649476G>A, XM_005272324.4:c.445C>T, XM_005272324.3:c.445C>T, XM_005272324.2:c.445C>T, XM_005272324.1:c.445C>T, XM_047421845.1:c.382C>T, XM_047421846.1:c.382C>T, NP_057292.1:p.Arg166Cys, NP_898880.1:p.Arg166Cys, XP_005272381.1:p.Arg149Cys, XP_047277801.1:p.Arg128Cys, XP_047277802.1:p.Arg128Cys

Select item 139965120112.

rs1399651201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144424084 (GRCh38)
8:145649467 (GRCh37)
Canonical SPDI:: NC_000008.11:144424083:G:A
Gene:: VPS28 (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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144424084G>A, NW_003315924.1:g.193343G>A, NG_029456.2:g.9461C>T, NM_016208.4:c.505C>T, NM_016208.3:c.505C>T, NM_183057.3:c.505C>T, NM_183057.2:c.505C>T, NW_018654716.1:g.154686G>A, NC_000008.10:g.145649467G>A, XM_005272324.4:c.454C>T, XM_005272324.3:c.454C>T, XM_005272324.2:c.454C>T, XM_005272324.1:c.454C>T, XM_047421845.1:c.391C>T, XM_047421846.1:c.391C>T, NP_057292.1:p.His169Tyr, NP_898880.1:p.His169Tyr, XP_005272381.1:p.His152Tyr, XP_047277801.1:p.His131Tyr, XP_047277802.1:p.His131Tyr

Select item 139940143213.

rs1399401432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144423851 (GRCh38)
8:145649234 (GRCh37)
Canonical SPDI:: NC_000008.11:144423850:T:C
Gene:: VPS28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144423851T>C, NW_003315924.1:g.193110T>C, NG_029456.2:g.9694A>G, NM_016208.4:c.620A>G, NM_016208.3:c.620A>G, NM_183057.3:c.*36A>G, NM_183057.2:c.*36A>G, NW_018654716.1:g.154453T>C, NC_000008.10:g.145649234T>C, XM_005272324.4:c.569A>G, XM_005272324.3:c.569A>G, XM_005272324.2:c.569A>G, XM_005272324.1:c.569A>G, XM_047421845.1:c.506A>G, XM_047421846.1:c.506A>G, NP_057292.1:p.Asp207Gly, XP_005272381.1:p.Asp190Gly, XP_047277801.1:p.Asp169Gly, XP_047277802.1:p.Asp169Gly

Select item 139387783214.

rs1393877832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:144426038 (GRCh38)
8:145651421 (GRCh37)
Canonical SPDI:: NC_000008.11:144426037:C:A,NC_000008.11:144426037:C:G,NC_000008.11:144426037:C:T
Gene:: VPS28 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.144426038C>A, NC_000008.11:g.144426038C>G, NC_000008.11:g.144426038C>T, NW_003315924.1:g.195297C>A, NW_003315924.1:g.195297C>G, NW_003315924.1:g.195297C>T, NG_029456.2:g.7507G>T, NG_029456.2:g.7507G>C, NG_029456.2:g.7507G>A, NM_016208.4:c.92G>T, NM_016208.4:c.92G>C, NM_016208.4:c.92G>A, NM_016208.3:c.92G>T, NM_016208.3:c.92G>C, NM_016208.3:c.92G>A, NM_183057.3:c.92G>T, NM_183057.3:c.92G>C, NM_183057.3:c.92G>A, NM_183057.2:c.92G>T, NM_183057.2:c.92G>C, NM_183057.2:c.92G>A, NW_018654716.1:g.156640C>A, NW_018654716.1:g.156640C>G, NW_018654716.1:g.156640C>T, NC_000008.10:g.145651421C>A, NC_000008.10:g.145651421C>G, NC_000008.10:g.145651421C>T, XM_005272324.4:c.92G>T, XM_005272324.4:c.92G>C, XM_005272324.4:c.92G>A, XM_005272324.3:c.92G>T, XM_005272324.3:c.92G>C, XM_005272324.3:c.92G>A, XM_005272324.2:c.92G>T, XM_005272324.2:c.92G>C, XM_005272324.2:c.92G>A, XM_005272324.1:c.92G>T, XM_005272324.1:c.92G>C, XM_005272324.1:c.92G>A, XM_047421845.1:c.-127G>T, XM_047421845.1:c.-127G>C, XM_047421845.1:c.-127G>A, NP_057292.1:p.Arg31Leu, NP_057292.1:p.Arg31Pro, NP_057292.1:p.Arg31Gln, NP_898880.1:p.Arg31Leu, NP_898880.1:p.Arg31Pro, NP_898880.1:p.Arg31Gln, XP_005272381.1:p.Arg31Leu, XP_005272381.1:p.Arg31Pro, XP_005272381.1:p.Arg31Gln

Select item 138179924715.

rs1381799247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:144426932 (GRCh38)
8:145652315 (GRCh37)
Canonical SPDI:: NC_000008.11:144426931:A:G,NC_000008.11:144426931:A:T
Gene:: VPS28 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.002729/5 (Korea1K)
HGVS:: NC_000008.11:g.144426932A>G, NC_000008.11:g.144426932A>T, NW_003315924.1:g.196191A>G, NW_003315924.1:g.196191A>T, NG_029456.2:g.6613T>C, NG_029456.2:g.6613T>A, NM_016208.4:c.14T>C, NM_016208.4:c.14T>A, NM_016208.3:c.14T>C, NM_016208.3:c.14T>A, NM_183057.3:c.14T>C, NM_183057.3:c.14T>A, NM_183057.2:c.14T>C, NM_183057.2:c.14T>A, NW_018654716.1:g.157534A>G, NW_018654716.1:g.157534A>T, NC_000008.10:g.145652315A>G, NC_000008.10:g.145652315A>T, XM_005272324.4:c.14T>C, XM_005272324.4:c.14T>A, XM_005272324.3:c.14T>C, XM_005272324.3:c.14T>A, XM_005272324.2:c.14T>C, XM_005272324.2:c.14T>A, XM_005272324.1:c.14T>C, XM_005272324.1:c.14T>A, XM_047421845.1:c.-205T>C, XM_047421845.1:c.-205T>A, NP_057292.1:p.Ile5Thr, NP_057292.1:p.Ile5Asn, NP_898880.1:p.Ile5Thr, NP_898880.1:p.Ile5Asn, XP_005272381.1:p.Ile5Thr, XP_005272381.1:p.Ile5Asn

Select item 137834221616.

rs1378342216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144425032 (GRCh38)
8:145650415 (GRCh37)
Canonical SPDI:: NC_000008.11:144425031:G:A,NC_000008.11:144425031:G:T
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144425032G>A, NC_000008.11:g.144425032G>T, NW_003315924.1:g.194291G>A, NW_003315924.1:g.194291G>T, NG_029456.2:g.8513C>T, NG_029456.2:g.8513C>A, NM_016208.4:c.214C>T, NM_016208.4:c.214C>A, NM_016208.3:c.214C>T, NM_016208.3:c.214C>A, NM_183057.3:c.214C>T, NM_183057.3:c.214C>A, NM_183057.2:c.214C>T, NM_183057.2:c.214C>A, NW_018654716.1:g.155634G>A, NW_018654716.1:g.155634G>T, NC_000008.10:g.145650415G>A, NC_000008.10:g.145650415G>T, XM_047421845.1:c.100C>T, XM_047421845.1:c.100C>A, XM_047421846.1:c.100C>T, XM_047421846.1:c.100C>A, NP_057292.1:p.Arg72Trp, NP_898880.1:p.Arg72Trp, XP_047277801.1:p.Arg34Trp, XP_047277802.1:p.Arg34Trp

Select item 137524638317.

rs1375246383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144424999 (GRCh38)
8:145650382 (GRCh37)
Canonical SPDI:: NC_000008.11:144424998:G:A
Gene:: VPS28 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144424999G>A, NW_003315924.1:g.194258G>A, NG_029456.2:g.8546C>T, NM_016208.4:c.247C>T, NM_016208.3:c.247C>T, NM_183057.3:c.247C>T, NM_183057.2:c.247C>T, NW_018654716.1:g.155601G>A, NC_000008.10:g.145650382G>A, XM_005272324.4:c.196C>T, XM_005272324.3:c.196C>T, XM_005272324.2:c.196C>T, XM_005272324.1:c.196C>T, XM_047421845.1:c.133C>T, XM_047421846.1:c.133C>T, NP_057292.1:p.Gln83Ter, NP_898880.1:p.Gln83Ter, XP_005272381.1:p.Gln66Ter, XP_047277801.1:p.Gln45Ter, XP_047277802.1:p.Gln45Ter

Select item 137434140918.

rs1374341409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144425021 (GRCh38)
8:145650404 (GRCh37)
Canonical SPDI:: NC_000008.11:144425020:G:A
Gene:: VPS28 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144425021G>A, NW_003315924.1:g.194280G>A, NG_029456.2:g.8524C>T, NM_016208.4:c.225C>T, NM_016208.3:c.225C>T, NM_183057.3:c.225C>T, NM_183057.2:c.225C>T, NW_018654716.1:g.155623G>A, NC_000008.10:g.145650404G>A, XM_047421845.1:c.111C>T, XM_047421846.1:c.111C>T

Select item 137428815619.

rs1374288156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144425762 (GRCh38)
8:145651145 (GRCh37)
Canonical SPDI:: NC_000008.11:144425761:T:C
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144425762T>C, NW_003315924.1:g.195021T>C, NG_029456.2:g.7783A>G, NM_016208.4:c.115A>G, NM_016208.3:c.115A>G, NM_183057.3:c.115A>G, NM_183057.2:c.115A>G, NW_018654716.1:g.156364T>C, NC_000008.10:g.145651145T>C, XM_005272324.4:c.115A>G, XM_005272324.3:c.115A>G, XM_005272324.2:c.115A>G, XM_005272324.1:c.115A>G, XM_047421845.1:c.1A>G, XM_047421846.1:c.1A>G, NP_057292.1:p.Met39Val, NP_898880.1:p.Met39Val, XP_005272381.1:p.Met39Val, XP_047277801.1:p.Met1Val, XP_047277802.1:p.Met1Val

Select item 137166529420.

rs1371665294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:144425708 (GRCh38)
8:145651091 (GRCh37)
Canonical SPDI:: NC_000008.11:144425707:T:C,NC_000008.11:144425707:T:G
Gene:: VPS28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.144425708T>C, NC_000008.11:g.144425708T>G, NW_003315924.1:g.194967T>C, NW_003315924.1:g.194967T>G, NG_029456.2:g.7837A>G, NG_029456.2:g.7837A>C, NM_016208.4:c.169A>G, NM_016208.4:c.169A>C, NM_016208.3:c.169A>G, NM_016208.3:c.169A>C, NM_183057.3:c.169A>G, NM_183057.3:c.169A>C, NM_183057.2:c.169A>G, NM_183057.2:c.169A>C, NW_018654716.1:g.156310T>C, NW_018654716.1:g.156310T>G, NC_000008.10:g.145651091T>C, NC_000008.10:g.145651091T>G, XM_005272324.4:c.169A>G, XM_005272324.4:c.169A>C, XM_005272324.3:c.169A>G, XM_005272324.3:c.169A>C, XM_005272324.2:c.169A>G, XM_005272324.2:c.169A>C, XM_005272324.1:c.169A>G, XM_005272324.1:c.169A>C, XM_047421845.1:c.55A>G, XM_047421845.1:c.55A>C, XM_047421846.1:c.55A>G, XM_047421846.1:c.55A>C, NP_057292.1:p.Ile57Val, NP_057292.1:p.Ile57Leu, NP_898880.1:p.Ile57Val, NP_898880.1:p.Ile57Leu, XP_005272381.1:p.Ile57Val, XP_005272381.1:p.Ile57Leu, XP_047277801.1:p.Ile19Val, XP_047277801.1:p.Ile19Leu, XP_047277802.1:p.Ile19Val, XP_047277802.1:p.Ile19Leu

dbSNP

Result Filters

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 184

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity