SNP Links for Protein (Select 145279204) - SNP

Links from Protein

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Select item 14910448211.

rs1491044821 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:137307241 (GRCh38)
9:140201693 (GRCh37)
Canonical SPDI:: NC_000009.12:137307240:AG:
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000025/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137307241_137307242del, NC_000009.11:g.140201693_140201694del, NM_017820.5:c.2339_2340del, NM_017820.4:c.2339_2340del, NM_017820.3:c.2339_2340del, XM_011518810.2:c.2804_2805del, XM_011518810.1:c.2804_2805del, XM_024447588.2:c.2288_2289del, XM_024447588.1:c.2288_2289del, XM_047423542.1:c.3041_3042del, XM_047423543.1:c.2432_2433del, XM_047423544.1:c.2342_2343del, NP_060290.3:p.Pro780fs, XP_011517112.1:p.Pro935fs, XP_024303356.1:p.Pro763fs, XP_047279498.1:p.Pro1014fs, XP_047279499.1:p.Pro811fs, XP_047279500.1:p.Pro781fs

Select item 14906856652.

rs1490685665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137349124 (GRCh38)
9:140243576 (GRCh37)
Canonical SPDI:: NC_000009.12:137349123:C:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.137349124C>A, NC_000009.11:g.140243576C>A, NM_017820.5:c.1816G>T, NM_017820.4:c.1816G>T, NM_017820.3:c.1816G>T, XM_011518810.2:c.2191G>T, XM_011518810.1:c.2191G>T, XM_024447588.2:c.1675G>T, XM_024447588.1:c.1675G>T, XM_047423542.1:c.2428G>T, XM_047423543.1:c.1819G>T, XM_047423544.1:c.1819G>T, XM_047423545.1:c.1544G>T, NP_060290.3:p.Ala606Ser, XP_011517112.1:p.Ala731Ser, XP_024303356.1:p.Ala559Ser, XP_047279498.1:p.Ala810Ser, XP_047279499.1:p.Ala607Ser, XP_047279500.1:p.Ala607Ser, XP_047279501.1:p.Gly515Val

Select item 14903491643.

rs1490349164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137351372 (GRCh38)
9:140245824 (GRCh37)
Canonical SPDI:: NC_000009.12:137351371:C:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137351372C>A, NC_000009.11:g.140245824C>A, NM_017820.5:c.1330G>T, NM_017820.4:c.1330G>T, NM_017820.3:c.1330G>T, XM_011518810.2:c.1702G>T, XM_011518810.1:c.1702G>T, XM_024447588.2:c.1186G>T, XM_024447588.1:c.1186G>T, XM_047423542.1:c.1939G>T, XM_047423543.1:c.1330G>T, XM_047423544.1:c.1330G>T, XM_047423545.1:c.1058G>T, NP_060290.3:p.Ala444Ser, XP_011517112.1:p.Ala568Ser, XP_024303356.1:p.Ala396Ser, XP_047279498.1:p.Ala647Ser, XP_047279499.1:p.Ala444Ser, XP_047279500.1:p.Ala444Ser, XP_047279501.1:p.Gly353Val

Select item 14901959294.

rs1490195929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137349371 (GRCh38)
9:140243823 (GRCh37)
Canonical SPDI:: NC_000009.12:137349370:G:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.137349371G>A, NC_000009.11:g.140243823G>A, NM_017820.5:c.1655C>T, NM_017820.4:c.1655C>T, NM_017820.3:c.1655C>T, XM_011518810.2:c.2030C>T, XM_011518810.1:c.2030C>T, XM_024447588.2:c.1514C>T, XM_024447588.1:c.1514C>T, XM_047423542.1:c.2267C>T, XM_047423543.1:c.1658C>T, XM_047423544.1:c.1658C>T, XM_047423545.1:c.1383C>T, NP_060290.3:p.Ala552Val, XP_011517112.1:p.Ala677Val, XP_024303356.1:p.Ala505Val, XP_047279498.1:p.Ala756Val, XP_047279499.1:p.Ala553Val, XP_047279500.1:p.Ala553Val

Select item 14892817375.

rs1489281737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:137309637 (GRCh38)
9:140204089 (GRCh37)
Canonical SPDI:: NC_000009.12:137309636:T:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000023/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137309637T>A, NC_000009.11:g.140204089T>A, NM_017820.5:c.2248A>T, NM_017820.4:c.2248A>T, NM_017820.3:c.2248A>T, XM_011518810.2:c.2713A>T, XM_011518810.1:c.2713A>T, XM_024447588.2:c.2197A>T, XM_024447588.1:c.2197A>T, XM_047423542.1:c.2950A>T, XM_047423543.1:c.2341A>T, XM_047423544.1:c.2251A>T, NP_060290.3:p.Ser750Cys, XP_011517112.1:p.Ser905Cys, XP_024303356.1:p.Ser733Cys, XP_047279498.1:p.Ser984Cys, XP_047279499.1:p.Ser781Cys, XP_047279500.1:p.Ser751Cys

Select item 14891465416.

rs1489146541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137373479 (GRCh38)
9:140267931 (GRCh37)
Canonical SPDI:: NC_000009.12:137373478:A:G
Gene:: EXD3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.137373479A>G, NC_000009.11:g.140267931A>G, NM_017820.5:c.241T>C, NM_017820.4:c.241T>C, NM_017820.3:c.241T>C, XM_011518810.2:c.241T>C, XM_011518810.1:c.241T>C, NR_104598.2:n.751T>C, NR_104598.1:n.851T>C, NM_001286823.2:c.241T>C, NM_001286823.1:c.241T>C, XM_047423542.1:c.483T>C, XM_047423543.1:c.241T>C, XM_047423544.1:c.241T>C, XM_047423546.1:c.241T>C, XM_047423545.1:c.241T>C, NP_060290.3:p.Ser81Pro, XP_011517112.1:p.Ser81Pro, NP_001273752.1:p.Ser81Pro, XP_047279499.1:p.Ser81Pro, XP_047279500.1:p.Ser81Pro, XP_047279502.1:p.Ser81Pro, XP_047279501.1:p.Ser81Pro

Select item 14883061767.

rs1488306176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137323810 (GRCh38)
9:140218262 (GRCh37)
Canonical SPDI:: NC_000009.12:137323809:G:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137323810G>A, NC_000009.11:g.140218262G>A, NM_017820.5:c.2099C>T, NM_017820.4:c.2099C>T, NM_017820.3:c.2099C>T, XM_011518810.2:c.2474C>T, XM_011518810.1:c.2474C>T, XM_024447588.2:c.1958C>T, XM_024447588.1:c.1958C>T, XM_047423542.1:c.2711C>T, XM_047423543.1:c.2102C>T, XM_047423544.1:c.2102C>T, NP_060290.3:p.Ser700Phe, XP_011517112.1:p.Ser825Phe, XP_024303356.1:p.Ser653Phe, XP_047279498.1:p.Ser904Phe, XP_047279499.1:p.Ser701Phe, XP_047279500.1:p.Ser701Phe

Select item 14882780268.

rs1488278026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137307644 (GRCh38)
9:140202096 (GRCh37)
Canonical SPDI:: NC_000009.12:137307643:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137307644C>T, NC_000009.11:g.140202096C>T, NM_017820.5:c.2281G>A, NM_017820.4:c.2281G>A, NM_017820.3:c.2281G>A, XM_011518810.2:c.2746G>A, XM_011518810.1:c.2746G>A, XM_024447588.2:c.2230G>A, XM_024447588.1:c.2230G>A, XM_047423542.1:c.2983G>A, XM_047423543.1:c.2374G>A, XM_047423544.1:c.2284G>A, NP_060290.3:p.Asp761Asn, XP_011517112.1:p.Asp916Asn, XP_024303356.1:p.Asp744Asn, XP_047279498.1:p.Asp995Asn, XP_047279499.1:p.Asp792Asn, XP_047279500.1:p.Asp762Asn

Select item 14861367659.

rs1486136765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:137349182 (GRCh38)
9:140243634 (GRCh37)
Canonical SPDI:: NC_000009.12:137349181:C:A,NC_000009.12:137349181:C:G,NC_000009.12:137349181:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137349182C>A, NC_000009.12:g.137349182C>G, NC_000009.12:g.137349182C>T, NC_000009.11:g.140243634C>A, NC_000009.11:g.140243634C>G, NC_000009.11:g.140243634C>T, NM_017820.5:c.1758G>T, NM_017820.5:c.1758G>C, NM_017820.5:c.1758G>A, NM_017820.4:c.1758G>T, NM_017820.4:c.1758G>C, NM_017820.4:c.1758G>A, NM_017820.3:c.1758G>T, NM_017820.3:c.1758G>C, NM_017820.3:c.1758G>A, XM_011518810.2:c.2133G>T, XM_011518810.2:c.2133G>C, XM_011518810.2:c.2133G>A, XM_011518810.1:c.2133G>T, XM_011518810.1:c.2133G>C, XM_011518810.1:c.2133G>A, XM_024447588.2:c.1617G>T, XM_024447588.2:c.1617G>C, XM_024447588.2:c.1617G>A, XM_024447588.1:c.1617G>T, XM_024447588.1:c.1617G>C, XM_024447588.1:c.1617G>A, XM_047423542.1:c.2370G>T, XM_047423542.1:c.2370G>C, XM_047423542.1:c.2370G>A, XM_047423543.1:c.1761G>T, XM_047423543.1:c.1761G>C, XM_047423543.1:c.1761G>A, XM_047423544.1:c.1761G>T, XM_047423544.1:c.1761G>C, XM_047423544.1:c.1761G>A, XM_047423545.1:c.1486G>T, XM_047423545.1:c.1486G>C, XM_047423545.1:c.1486G>A, NP_060290.3:p.Arg586Ser, NP_060290.3:p.Arg586Ser, XP_011517112.1:p.Arg711Ser, XP_011517112.1:p.Arg711Ser, XP_024303356.1:p.Arg539Ser, XP_024303356.1:p.Arg539Ser, XP_047279498.1:p.Arg790Ser, XP_047279498.1:p.Arg790Ser, XP_047279499.1:p.Arg587Ser, XP_047279499.1:p.Arg587Ser, XP_047279500.1:p.Arg587Ser, XP_047279500.1:p.Arg587Ser, XP_047279501.1:p.Ala496Ser, XP_047279501.1:p.Ala496Pro, XP_047279501.1:p.Ala496Thr

Select item 148555398710.

rs1485553987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137395347 (GRCh38)
9:140289799 (GRCh37)
Canonical SPDI:: NC_000009.12:137395346:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137395347C>T, NC_000009.11:g.140289799C>T, NM_017820.5:c.11G>A, NM_017820.4:c.11G>A, NM_017820.3:c.11G>A, XM_011518810.2:c.11G>A, XM_011518810.1:c.11G>A, NR_104599.2:n.107G>A, NR_104599.1:n.207G>A, NR_104598.2:n.107G>A, NR_104598.1:n.207G>A, NM_001286823.2:c.11G>A, NM_001286823.1:c.11G>A, XM_047423543.1:c.11G>A, XM_047423544.1:c.11G>A, XM_047423546.1:c.11G>A, XM_047423545.1:c.11G>A, NP_060290.3:p.Gly4Glu, XP_011517112.1:p.Gly4Glu, NP_001273752.1:p.Gly4Glu, XP_047279499.1:p.Gly4Glu, XP_047279500.1:p.Gly4Glu, XP_047279502.1:p.Gly4Glu, XP_047279501.1:p.Gly4Glu

Select item 148462456211.

rs1484624562 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:137366581 (GRCh38)
9:140261033 (GRCh37)
Canonical SPDI:: NC_000009.12:137366578:CACA:CA
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137366579CA[1], NC_000009.11:g.140261031CA[1], NM_017820.5:c.569_570del, NM_017820.4:c.569_570del, NM_017820.3:c.569_570del, XM_011518810.2:c.569_570del, XM_011518810.1:c.569_570del, XM_024447588.2:c.53_54del, XM_024447588.1:c.53_54del, NR_104598.2:n.1077TG[1], NR_104598.1:n.1177TG[1], NM_001286823.2:c.569_570del, NM_001286823.1:c.569_570del, XM_047423542.1:c.806_807del, XM_047423543.1:c.569_570del, XM_047423544.1:c.569_570del, XM_047423546.1:c.569_570del, XM_047423545.1:c.569_570del, NP_060290.3:p.Val190fs, XP_011517112.1:p.Val190fs, XP_024303356.1:p.Val18fs, NP_001273752.1:p.Val190fs, XP_047279498.1:p.Val269fs, XP_047279499.1:p.Val190fs, XP_047279500.1:p.Val190fs, XP_047279502.1:p.Val190fs, XP_047279501.1:p.Val190fs

Select item 148446070012.

rs1484460700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137373033 (GRCh38)
9:140267485 (GRCh37)
Canonical SPDI:: NC_000009.12:137373032:T:C
Gene:: EXD3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137373033T>C, NC_000009.11:g.140267485T>C, NM_017820.5:c.334A>G, NM_017820.4:c.334A>G, NM_017820.3:c.334A>G, XM_011518810.2:c.334A>G, XM_011518810.1:c.334A>G, NR_104598.2:n.844A>G, NR_104598.1:n.944A>G, NM_001286823.2:c.334A>G, NM_001286823.1:c.334A>G, XM_047423542.1:c.571A>G, XM_047423543.1:c.334A>G, XM_047423544.1:c.334A>G, XM_047423546.1:c.334A>G, XM_047423545.1:c.334A>G, NP_060290.3:p.Lys112Glu, XP_011517112.1:p.Lys112Glu, NP_001273752.1:p.Lys112Glu, XP_047279498.1:p.Lys191Glu, XP_047279499.1:p.Lys112Glu, XP_047279500.1:p.Lys112Glu, XP_047279502.1:p.Lys112Glu, XP_047279501.1:p.Lys112Glu

Select item 148444957613.

rs1484449576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:137383339 (GRCh38)
9:140277791 (GRCh37)
Canonical SPDI:: NC_000009.12:137383338:G:A,NC_000009.12:137383338:G:C
Gene:: EXD3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.137383339G>A, NC_000009.12:g.137383339G>C, NC_000009.11:g.140277791G>A, NC_000009.11:g.140277791G>C, NM_017820.5:c.94C>T, NM_017820.5:c.94C>G, NM_017820.4:c.94C>T, NM_017820.4:c.94C>G, NM_017820.3:c.94C>T, NM_017820.3:c.94C>G, XM_011518810.2:c.94C>T, XM_011518810.2:c.94C>G, XM_011518810.1:c.94C>T, XM_011518810.1:c.94C>G, NR_104598.2:n.190C>T, NR_104598.2:n.190C>G, NR_104598.1:n.290C>T, NR_104598.1:n.290C>G, NM_001286823.2:c.94C>T, NM_001286823.2:c.94C>G, NM_001286823.1:c.94C>T, NM_001286823.1:c.94C>G, XM_047423543.1:c.94C>T, XM_047423543.1:c.94C>G, XM_047423544.1:c.94C>T, XM_047423544.1:c.94C>G, XM_047423546.1:c.94C>T, XM_047423546.1:c.94C>G, XM_047423545.1:c.94C>T, XM_047423545.1:c.94C>G, NP_060290.3:p.Leu32Val, XP_011517112.1:p.Leu32Val, NP_001273752.1:p.Leu32Val, XP_047279499.1:p.Leu32Val, XP_047279500.1:p.Leu32Val, XP_047279502.1:p.Leu32Val, XP_047279501.1:p.Leu32Val

Select item 148357424314.

rs1483574243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137354769 (GRCh38)
9:140249221 (GRCh37)
Canonical SPDI:: NC_000009.12:137354768:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000009.12:g.137354769C>T, NC_000009.11:g.140249221C>T, NM_017820.5:c.762G>A, NM_017820.4:c.762G>A, NM_017820.3:c.762G>A, XM_011518810.2:c.1092G>A, XM_011518810.1:c.1092G>A, XM_024447588.2:c.576G>A, XM_024447588.1:c.576G>A, XM_047423542.1:c.1329G>A, XM_047423543.1:c.762G>A, XM_047423544.1:c.762G>A

Select item 148318268015.

rs1483182680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137307625 (GRCh38)
9:140202077 (GRCh37)
Canonical SPDI:: NC_000009.12:137307624:T:C
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137307625T>C, NC_000009.11:g.140202077T>C, NM_017820.5:c.2300A>G, NM_017820.4:c.2300A>G, NM_017820.3:c.2300A>G, XM_011518810.2:c.2765A>G, XM_011518810.1:c.2765A>G, XM_024447588.2:c.2249A>G, XM_024447588.1:c.2249A>G, XM_047423542.1:c.3002A>G, XM_047423543.1:c.2393A>G, XM_047423544.1:c.2303A>G, NP_060290.3:p.Gln767Arg, XP_011517112.1:p.Gln922Arg, XP_024303356.1:p.Gln750Arg, XP_047279498.1:p.Gln1001Arg, XP_047279499.1:p.Gln798Arg, XP_047279500.1:p.Gln768Arg

Select item 148301173216.

rs1483011732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137373484 (GRCh38)
9:140267936 (GRCh37)
Canonical SPDI:: NC_000009.12:137373483:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.137373484C>T, NC_000009.11:g.140267936C>T, NM_017820.5:c.236G>A, NM_017820.4:c.236G>A, NM_017820.3:c.236G>A, XM_011518810.2:c.236G>A, XM_011518810.1:c.236G>A, NR_104598.2:n.746G>A, NR_104598.1:n.846G>A, NM_001286823.2:c.236G>A, NM_001286823.1:c.236G>A, XM_047423542.1:c.478G>A, XM_047423543.1:c.236G>A, XM_047423544.1:c.236G>A, XM_047423546.1:c.236G>A, XM_047423545.1:c.236G>A, NP_060290.3:p.Trp79Ter, XP_011517112.1:p.Trp79Ter, NP_001273752.1:p.Trp79Ter, XP_047279498.1:p.Gly160Arg, XP_047279499.1:p.Trp79Ter, XP_047279500.1:p.Trp79Ter, XP_047279502.1:p.Trp79Ter, XP_047279501.1:p.Trp79Ter

Select item 148118433717.

rs1481184337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:137366500 (GRCh38)
9:140260952 (GRCh37)
Canonical SPDI:: NC_000009.12:137366499:C:A,NC_000009.12:137366499:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137366500C>A, NC_000009.12:g.137366500C>T, NC_000009.11:g.140260952C>A, NC_000009.11:g.140260952C>T, NM_017820.5:c.649G>T, NM_017820.5:c.649G>A, NM_017820.4:c.649G>T, NM_017820.4:c.649G>A, NM_017820.3:c.649G>T, NM_017820.3:c.649G>A, XM_011518810.2:c.649G>T, XM_011518810.2:c.649G>A, XM_011518810.1:c.649G>T, XM_011518810.1:c.649G>A, XM_024447588.2:c.133G>T, XM_024447588.2:c.133G>A, XM_024447588.1:c.133G>T, XM_024447588.1:c.133G>A, NR_104598.2:n.1159G>T, NR_104598.2:n.1159G>A, NR_104598.1:n.1259G>T, NR_104598.1:n.1259G>A, NM_001286823.2:c.649G>T, NM_001286823.2:c.649G>A, NM_001286823.1:c.649G>T, NM_001286823.1:c.649G>A, XM_047423542.1:c.886G>T, XM_047423542.1:c.886G>A, XM_047423543.1:c.649G>T, XM_047423543.1:c.649G>A, XM_047423544.1:c.649G>T, XM_047423544.1:c.649G>A, XM_047423546.1:c.649G>T, XM_047423546.1:c.649G>A, XM_047423545.1:c.649G>T, XM_047423545.1:c.649G>A, NP_060290.3:p.Val217Phe, NP_060290.3:p.Val217Ile, XP_011517112.1:p.Val217Phe, XP_011517112.1:p.Val217Ile, XP_024303356.1:p.Val45Phe, XP_024303356.1:p.Val45Ile, NP_001273752.1:p.Val217Phe, NP_001273752.1:p.Val217Ile, XP_047279498.1:p.Val296Phe, XP_047279498.1:p.Val296Ile, XP_047279499.1:p.Val217Phe, XP_047279499.1:p.Val217Ile, XP_047279500.1:p.Val217Phe, XP_047279500.1:p.Val217Ile, XP_047279502.1:p.Val217Phe, XP_047279502.1:p.Val217Ile, XP_047279501.1:p.Val217Phe, XP_047279501.1:p.Val217Ile

Select item 147889094918.

rs1478890949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137352071 (GRCh38)
9:140246523 (GRCh37)
Canonical SPDI:: NC_000009.12:137352070:G:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137352071G>A, NC_000009.11:g.140246523G>A, NM_017820.5:c.1168C>T, NM_017820.4:c.1168C>T, NM_017820.3:c.1168C>T, XM_011518810.2:c.1540C>T, XM_011518810.1:c.1540C>T, XM_024447588.2:c.1024C>T, XM_024447588.1:c.1024C>T, XM_047423542.1:c.1777C>T, XM_047423543.1:c.1168C>T, XM_047423544.1:c.1168C>T

Select item 147874117919.

rs1478741179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137323839 (GRCh38)
9:140218291 (GRCh37)
Canonical SPDI:: NC_000009.12:137323838:C:A
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.137323839C>A, NC_000009.11:g.140218291C>A, NM_017820.5:c.2070G>T, NM_017820.4:c.2070G>T, NM_017820.3:c.2070G>T, XM_011518810.2:c.2445G>T, XM_011518810.1:c.2445G>T, XM_024447588.2:c.1929G>T, XM_024447588.1:c.1929G>T, XM_047423542.1:c.2682G>T, XM_047423543.1:c.2073G>T, XM_047423544.1:c.2073G>T

Select item 147673404820.

rs1476734048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137348211 (GRCh38)
9:140242663 (GRCh37)
Canonical SPDI:: NC_000009.12:137348210:C:T
Gene:: EXD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137348211C>T, NC_000009.11:g.140242663C>T, NM_017820.5:c.1858G>A, NM_017820.4:c.1858G>A, NM_017820.3:c.1858G>A, XM_011518810.2:c.2233G>A, XM_011518810.1:c.2233G>A, XM_024447588.2:c.1717G>A, XM_024447588.1:c.1717G>A, XM_047423542.1:c.2470G>A, XM_047423543.1:c.1861G>A, XM_047423544.1:c.1861G>A, XM_047423545.1:c.*2G>A, NP_060290.3:p.Gly620Ser, XP_011517112.1:p.Gly745Ser, XP_024303356.1:p.Gly573Ser, XP_047279498.1:p.Gly824Ser, XP_047279499.1:p.Gly621Ser, XP_047279500.1:p.Gly621Ser

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