SNP Links for Protein (Select 668259491) - SNP

Links from Protein

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Select item 14886752311.

rs1488675231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:396496 (GRCh38)
20:377140 (GRCh37)
Canonical SPDI:: NC_000020.11:396495:C:T
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.396496C>T, NC_000020.10:g.377140C>T, NM_021158.5:c.883C>T, NM_021158.4:c.883C>T, NM_021158.3:c.883C>T, NM_001301201.1:c.964C>T, NM_001301196.1:c.883C>T, NM_001301193.1:c.883C>T, NM_001301190.1:c.883C>T, NM_001301188.1:c.883C>T, NP_066981.2:p.Leu295Phe, NP_001288130.1:p.Leu322Phe, NP_001288125.1:p.Leu295Phe, NP_001288122.1:p.Leu295Phe, NP_001288119.1:p.Leu295Phe, NP_001288117.1:p.Leu295Phe

Select item 14865609772.

rs1486560977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:391388 (GRCh38)
20:372032 (GRCh37)
Canonical SPDI:: NC_000020.11:391387:G:A
Gene:: TRIB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.391388G>A, NC_000020.10:g.372032G>A, NM_021158.5:c.393G>A, NM_021158.4:c.393G>A, NM_021158.3:c.393G>A, NM_001301201.1:c.474G>A, NM_001301196.1:c.393G>A, NM_001301193.1:c.393G>A, NM_001301190.1:c.393G>A, NM_001301188.1:c.393G>A

Select item 14848316403.

rs1484831640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:396204 (GRCh38)
20:376848 (GRCh37)
Canonical SPDI:: NC_000020.11:396203:G:A
Gene:: TRIB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.396204G>A, NC_000020.10:g.376848G>A, NM_021158.5:c.591G>A, NM_021158.4:c.591G>A, NM_021158.3:c.591G>A, NM_001301201.1:c.672G>A, NM_001301196.1:c.591G>A, NM_001301193.1:c.591G>A, NM_001301190.1:c.591G>A, NM_001301188.1:c.591G>A

Select item 14830932674.

rs1483093267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:388078 (GRCh38)
20:368722 (GRCh37)
Canonical SPDI:: NC_000020.11:388077:A:T
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.388078A>T, NC_000020.10:g.368722A>T, NM_021158.5:c.68A>T, NM_021158.4:c.68A>T, NM_021158.3:c.68A>T, NM_001301201.1:c.149A>T, NM_001301196.1:c.68A>T, NM_001301193.1:c.68A>T, NM_001301190.1:c.68A>T, NM_001301188.1:c.68A>T, NP_066981.2:p.Asp23Val, NP_001288130.1:p.Asp50Val, NP_001288125.1:p.Asp23Val, NP_001288122.1:p.Asp23Val, NP_001288119.1:p.Asp23Val, NP_001288117.1:p.Asp23Val

Select item 14811352835.

rs1481135283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:388125 (GRCh38)
20:368769 (GRCh37)
Canonical SPDI:: NC_000020.11:388124:C:T
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.388125C>T, NC_000020.10:g.368769C>T, NM_021158.5:c.115C>T, NM_021158.4:c.115C>T, NM_021158.3:c.115C>T, NM_001301201.1:c.196C>T, NM_001301196.1:c.115C>T, NM_001301193.1:c.115C>T, NM_001301190.1:c.115C>T, NM_001301188.1:c.115C>T, NP_066981.2:p.Pro39Ser, NP_001288130.1:p.Pro66Ser, NP_001288125.1:p.Pro39Ser, NP_001288122.1:p.Pro39Ser, NP_001288119.1:p.Pro39Ser, NP_001288117.1:p.Pro39Ser

Select item 14754159276.

rs1475415927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGATC>- [Show Flanks]
Chromosome:: 20:396427 (GRCh38)
20:377071 (GRCh37)
Canonical SPDI:: NC_000020.11:396425:CAAGATC:C
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.396427_396432del, NC_000020.10:g.377071_377076del, NM_021158.5:c.814_819del, NM_021158.4:c.814_819del, NM_021158.3:c.814_819del, NM_001301201.1:c.895_900del, NM_001301196.1:c.814_819del, NM_001301193.1:c.814_819del, NM_001301190.1:c.814_819del, NM_001301188.1:c.814_819del, NP_066981.2:p.Lys272_Ile273del, NP_001288130.1:p.Lys299_Ile300del, NP_001288125.1:p.Lys272_Ile273del, NP_001288122.1:p.Lys272_Ile273del, NP_001288119.1:p.Lys272_Ile273del, NP_001288117.1:p.Lys272_Ile273del

Select item 14744789677.

rs1474478967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:388227 (GRCh38)
20:368871 (GRCh37)
Canonical SPDI:: NC_000020.11:388226:C:A
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.388227C>A, NC_000020.10:g.368871C>A, NM_021158.5:c.217C>A, NM_021158.4:c.217C>A, NM_021158.3:c.217C>A, NM_001301201.1:c.298C>A, NM_001301196.1:c.217C>A, NM_001301193.1:c.217C>A, NM_001301190.1:c.217C>A, NM_001301188.1:c.217C>A, NP_066981.2:p.Leu73Ile, NP_001288130.1:p.Leu100Ile, NP_001288125.1:p.Leu73Ile, NP_001288122.1:p.Leu73Ile, NP_001288119.1:p.Leu73Ile, NP_001288117.1:p.Leu73Ile

Select item 14731708328.

rs1473170832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:396641 (GRCh38)
20:377285 (GRCh37)
Canonical SPDI:: NC_000020.11:396640:A:G
Gene:: TRIB3 (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)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.396641A>G, NC_000020.10:g.377285A>G, NM_021158.5:c.1028A>G, NM_021158.4:c.1028A>G, NM_021158.3:c.1028A>G, NM_001301201.1:c.1109A>G, NM_001301196.1:c.1028A>G, NM_001301193.1:c.1028A>G, NM_001301190.1:c.1028A>G, NM_001301188.1:c.1028A>G, NP_066981.2:p.Asp343Gly, NP_001288130.1:p.Asp370Gly, NP_001288125.1:p.Asp343Gly, NP_001288122.1:p.Asp343Gly, NP_001288119.1:p.Asp343Gly, NP_001288117.1:p.Asp343Gly

Select item 14711550269.

rs1471155026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:388235 (GRCh38)
20:368879 (GRCh37)
Canonical SPDI:: NC_000020.11:388234:G:A,NC_000020.11:388234:G:C
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.388235G>A, NC_000020.11:g.388235G>C, NC_000020.10:g.368879G>A, NC_000020.10:g.368879G>C, NM_021158.5:c.225G>A, NM_021158.5:c.225G>C, NM_021158.4:c.225G>A, NM_021158.4:c.225G>C, NM_021158.3:c.225G>A, NM_021158.3:c.225G>C, NM_001301201.1:c.306G>A, NM_001301201.1:c.306G>C, NM_001301196.1:c.225G>A, NM_001301196.1:c.225G>C, NM_001301193.1:c.225G>A, NM_001301193.1:c.225G>C, NM_001301190.1:c.225G>A, NM_001301190.1:c.225G>C, NM_001301188.1:c.225G>A, NM_001301188.1:c.225G>C, NP_066981.2:p.Glu75Asp, NP_001288130.1:p.Glu102Asp, NP_001288125.1:p.Glu75Asp, NP_001288122.1:p.Glu75Asp, NP_001288119.1:p.Glu75Asp, NP_001288117.1:p.Glu75Asp

Select item 147077827710.

rs1470778277 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:396279 (GRCh38)
20:376923 (GRCh37)
Canonical SPDI:: NC_000020.11:396278:CCC:CC
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.396281del, NC_000020.10:g.376925del, NM_021158.5:c.668del, NM_021158.4:c.668del, NM_021158.3:c.668del, NM_001301201.1:c.749del, NM_001301196.1:c.668del, NM_001301193.1:c.668del, NM_001301190.1:c.668del, NM_001301188.1:c.668del, NP_066981.2:p.Pro223fs, NP_001288130.1:p.Pro250fs, NP_001288125.1:p.Pro223fs, NP_001288122.1:p.Pro223fs, NP_001288119.1:p.Pro223fs, NP_001288117.1:p.Pro223fs

Select item 147021346511.

rs1470213465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:396406 (GRCh38)
20:377050 (GRCh37)
Canonical SPDI:: NC_000020.11:396405:G:C,NC_000020.11:396405:G:T
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.396406G>C, NC_000020.11:g.396406G>T, NC_000020.10:g.377050G>C, NC_000020.10:g.377050G>T, NM_021158.5:c.793G>C, NM_021158.5:c.793G>T, NM_021158.4:c.793G>C, NM_021158.4:c.793G>T, NM_021158.3:c.793G>C, NM_021158.3:c.793G>T, NM_001301201.1:c.874G>C, NM_001301201.1:c.874G>T, NM_001301196.1:c.793G>C, NM_001301196.1:c.793G>T, NM_001301193.1:c.793G>C, NM_001301193.1:c.793G>T, NM_001301190.1:c.793G>C, NM_001301190.1:c.793G>T, NM_001301188.1:c.793G>C, NM_001301188.1:c.793G>T, NP_066981.2:p.Glu265Gln, NP_066981.2:p.Glu265Ter, NP_001288130.1:p.Glu292Gln, NP_001288130.1:p.Glu292Ter, NP_001288125.1:p.Glu265Gln, NP_001288125.1:p.Glu265Ter, NP_001288122.1:p.Glu265Gln, NP_001288122.1:p.Glu265Ter, NP_001288119.1:p.Glu265Gln, NP_001288119.1:p.Glu265Ter, NP_001288117.1:p.Glu265Gln, NP_001288117.1:p.Glu265Ter

Select item 146697349012.

rs1466973490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:396399 (GRCh38)
20:377043 (GRCh37)
Canonical SPDI:: NC_000020.11:396398:G:A
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.396399G>A, NC_000020.10:g.377043G>A, NM_021158.5:c.786G>A, NM_021158.4:c.786G>A, NM_021158.3:c.786G>A, NM_001301201.1:c.867G>A, NM_001301196.1:c.786G>A, NM_001301193.1:c.786G>A, NM_001301190.1:c.786G>A, NM_001301188.1:c.786G>A

Select item 146316408613.

rs1463164086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:391299 (GRCh38)
20:371943 (GRCh37)
Canonical SPDI:: NC_000020.11:391298:C:T
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.391299C>T, NC_000020.10:g.371943C>T, NM_021158.5:c.304C>T, NM_021158.4:c.304C>T, NM_021158.3:c.304C>T, NM_001301201.1:c.385C>T, NM_001301196.1:c.304C>T, NM_001301193.1:c.304C>T, NM_001301190.1:c.304C>T, NM_001301188.1:c.304C>T, NP_066981.2:p.Gln102Ter, NP_001288130.1:p.Gln129Ter, NP_001288125.1:p.Gln102Ter, NP_001288122.1:p.Gln102Ter, NP_001288119.1:p.Gln102Ter, NP_001288117.1:p.Gln102Ter

Select item 146250443314.

rs1462504433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:388147 (GRCh38)
20:368791 (GRCh37)
Canonical SPDI:: NC_000020.11:388146:G:A
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.388147G>A, NC_000020.10:g.368791G>A, NM_021158.5:c.137G>A, NM_021158.4:c.137G>A, NM_021158.3:c.137G>A, NM_001301201.1:c.218G>A, NM_001301196.1:c.137G>A, NM_001301193.1:c.137G>A, NM_001301190.1:c.137G>A, NM_001301188.1:c.137G>A, NP_066981.2:p.Cys46Tyr, NP_001288130.1:p.Cys73Tyr, NP_001288125.1:p.Cys46Tyr, NP_001288122.1:p.Cys46Tyr, NP_001288119.1:p.Cys46Tyr, NP_001288117.1:p.Cys46Tyr

Select item 146155214315.

rs1461552143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:396465 (GRCh38)
20:377109 (GRCh37)
Canonical SPDI:: NC_000020.11:396464:C:T
Gene:: TRIB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.396465C>T, NC_000020.10:g.377109C>T, NM_021158.5:c.852C>T, NM_021158.4:c.852C>T, NM_021158.3:c.852C>T, NM_001301201.1:c.933C>T, NM_001301196.1:c.852C>T, NM_001301193.1:c.852C>T, NM_001301190.1:c.852C>T, NM_001301188.1:c.852C>T

Select item 146011433116.

rs1460114331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:396344 (GRCh38)
20:376988 (GRCh37)
Canonical SPDI:: NC_000020.11:396343:T:C
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.396344T>C, NC_000020.10:g.376988T>C, NM_021158.5:c.731T>C, NM_021158.4:c.731T>C, NM_021158.3:c.731T>C, NM_001301201.1:c.812T>C, NM_001301196.1:c.731T>C, NM_001301193.1:c.731T>C, NM_001301190.1:c.731T>C, NM_001301188.1:c.731T>C, NP_066981.2:p.Val244Ala, NP_001288130.1:p.Val271Ala, NP_001288125.1:p.Val244Ala, NP_001288122.1:p.Val244Ala, NP_001288119.1:p.Val244Ala, NP_001288117.1:p.Val244Ala

Select item 145783564117.

rs1457835641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:388219 (GRCh38)
20:368863 (GRCh37)
Canonical SPDI:: NC_000020.11:388218:C:G
Gene:: TRIB3 (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_000020.11:g.388219C>G, NC_000020.10:g.368863C>G, NM_021158.5:c.209C>G, NM_021158.4:c.209C>G, NM_021158.3:c.209C>G, NM_001301201.1:c.290C>G, NM_001301196.1:c.209C>G, NM_001301193.1:c.209C>G, NM_001301190.1:c.209C>G, NM_001301188.1:c.209C>G, NP_066981.2:p.Pro70Arg, NP_001288130.1:p.Pro97Arg, NP_001288125.1:p.Pro70Arg, NP_001288122.1:p.Pro70Arg, NP_001288119.1:p.Pro70Arg, NP_001288117.1:p.Pro70Arg

Select item 145492742718.

rs1454927427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:388186 (GRCh38)
20:368830 (GRCh37)
Canonical SPDI:: NC_000020.11:388185:C:T
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.388186C>T, NC_000020.10:g.368830C>T, NM_021158.5:c.176C>T, NM_021158.4:c.176C>T, NM_021158.3:c.176C>T, NM_001301201.1:c.257C>T, NM_001301196.1:c.176C>T, NM_001301193.1:c.176C>T, NM_001301190.1:c.176C>T, NM_001301188.1:c.176C>T, NP_066981.2:p.Ala59Val, NP_001288130.1:p.Ala86Val, NP_001288125.1:p.Ala59Val, NP_001288122.1:p.Ala59Val, NP_001288119.1:p.Ala59Val, NP_001288117.1:p.Ala59Val

Select item 145409668219.

rs1454096682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:391569 (GRCh38)
20:372213 (GRCh37)
Canonical SPDI:: NC_000020.11:391568:G:C
Gene:: TRIB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.391569G>C, NC_000020.10:g.372213G>C, NM_021158.5:c.574G>C, NM_021158.4:c.574G>C, NM_021158.3:c.574G>C, NM_001301201.1:c.655G>C, NM_001301196.1:c.574G>C, NM_001301193.1:c.574G>C, NM_001301190.1:c.574G>C, NM_001301188.1:c.574G>C, NP_066981.2:p.Asp192His, NP_001288130.1:p.Asp219His, NP_001288125.1:p.Asp192His, NP_001288122.1:p.Asp192His, NP_001288119.1:p.Asp192His, NP_001288117.1:p.Asp192His

Select item 145310811820.

rs1453108118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:396481 (GRCh38)
20:377125 (GRCh37)
Canonical SPDI:: NC_000020.11:396480:T:C
Gene:: TRIB3 (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_000020.11:g.396481T>C, NC_000020.10:g.377125T>C, NM_021158.5:c.868T>C, NM_021158.4:c.868T>C, NM_021158.3:c.868T>C, NM_001301201.1:c.949T>C, NM_001301196.1:c.868T>C, NM_001301193.1:c.868T>C, NM_001301190.1:c.868T>C, NM_001301188.1:c.868T>C, NP_066981.2:p.Cys290Arg, NP_001288130.1:p.Cys317Arg, NP_001288125.1:p.Cys290Arg, NP_001288122.1:p.Cys290Arg, NP_001288119.1:p.Cys290Arg, NP_001288117.1:p.Cys290Arg

dbSNP

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