SNP Links for Protein (Select 343962650) - SNP

Select item 14893346221.

rs1489334622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:32253380 (GRCh38)
16:32264701 (GRCh37)
Canonical SPDI:: NC_000016.10:32253379:G:A,NC_000016.10:32253379:G:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/2 (GnomAD)
HGVS:: NC_000016.10:g.32253380G>A, NC_000016.10:g.32253380G>T, NC_000016.9:g.32264701G>A, NC_000016.9:g.32264701G>T, XM_017023634.3:c.27G>A, XM_017023634.3:c.27G>T, XM_017023634.2:c.27G>A, XM_017023634.2:c.27G>T, XM_017023634.1:c.27G>A, XM_017023634.1:c.27G>T, XM_017023637.3:c.27G>A, XM_017023637.3:c.27G>T, XM_017023637.2:c.27G>A, XM_017023637.2:c.27G>T, XM_017023637.1:c.27G>A, XM_017023637.1:c.27G>T, NM_001243722.3:c.27G>A, NM_001243722.3:c.27G>T, NM_001243722.2:c.27G>A, NM_001243722.2:c.27G>T, NM_001243722.1:c.27G>A, NM_001243722.1:c.27G>T, NR_158188.2:n.95G>A, NR_158188.2:n.95G>T, NR_158188.1:n.57G>A, NR_158188.1:n.57G>T, NR_158190.2:n.95G>A, NR_158190.2:n.95G>T, NR_158190.1:n.57G>A, NR_158190.1:n.57G>T, NR_158187.2:n.95G>A, NR_158187.2:n.95G>T, NR_158187.1:n.57G>A, NR_158187.1:n.57G>T, NR_158189.2:n.95G>A, NR_158189.2:n.95G>T, NR_158189.1:n.57G>A, NR_158189.1:n.57G>T, NR_110898.2:n.95G>A, NR_110898.2:n.95G>T, NR_110898.1:n.57G>A, NR_110898.1:n.57G>T, XP_016879123.1:p.Gln9His, XP_016879126.1:p.Gln9His, NP_001230651.1:p.Gln9His

Select item 14879247362.

rs1487924736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:32253387 (GRCh38)
16:32264708 (GRCh37)
Canonical SPDI:: NC_000016.10:32253386:G:A
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253387G>A, NC_000016.9:g.32264708G>A, XM_017023634.3:c.34G>A, XM_017023634.2:c.34G>A, XM_017023634.1:c.34G>A, XM_017023637.3:c.34G>A, XM_017023637.2:c.34G>A, XM_017023637.1:c.34G>A, NM_001243722.3:c.34G>A, NM_001243722.2:c.34G>A, NM_001243722.1:c.34G>A, NR_158188.2:n.102G>A, NR_158188.1:n.64G>A, NR_158190.2:n.102G>A, NR_158190.1:n.64G>A, NR_158187.2:n.102G>A, NR_158187.1:n.64G>A, NR_158189.2:n.102G>A, NR_158189.1:n.64G>A, NR_110898.2:n.102G>A, NR_110898.1:n.64G>A, XP_016879123.1:p.Ala12Thr, XP_016879126.1:p.Ala12Thr, NP_001230651.1:p.Ala12Thr

Select item 14834953283.

rs1483495328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:32253460 (GRCh38)
16:32264781 (GRCh37)
Canonical SPDI:: NC_000016.10:32253459:C:A,NC_000016.10:32253459:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
T=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253460C>A, NC_000016.10:g.32253460C>T, NC_000016.9:g.32264781C>A, NC_000016.9:g.32264781C>T, XM_017023634.3:c.107C>A, XM_017023634.3:c.107C>T, XM_017023634.2:c.107C>A, XM_017023634.2:c.107C>T, XM_017023634.1:c.107C>A, XM_017023634.1:c.107C>T, XM_017023637.3:c.107C>A, XM_017023637.3:c.107C>T, XM_017023637.2:c.107C>A, XM_017023637.2:c.107C>T, XM_017023637.1:c.107C>A, XM_017023637.1:c.107C>T, NM_001243722.3:c.107C>A, NM_001243722.3:c.107C>T, NM_001243722.2:c.107C>A, NM_001243722.2:c.107C>T, NM_001243722.1:c.107C>A, NM_001243722.1:c.107C>T, NR_158188.2:n.175C>A, NR_158188.2:n.175C>T, NR_158188.1:n.137C>A, NR_158188.1:n.137C>T, NR_158190.2:n.175C>A, NR_158190.2:n.175C>T, NR_158190.1:n.137C>A, NR_158190.1:n.137C>T, NR_158187.2:n.175C>A, NR_158187.2:n.175C>T, NR_158187.1:n.137C>A, NR_158187.1:n.137C>T, NR_158189.2:n.175C>A, NR_158189.2:n.175C>T, NR_158189.1:n.137C>A, NR_158189.1:n.137C>T, NR_110898.2:n.175C>A, NR_110898.2:n.175C>T, NR_110898.1:n.137C>A, NR_110898.1:n.137C>T, XP_016879123.1:p.Thr36Lys, XP_016879123.1:p.Thr36Met, XP_016879126.1:p.Thr36Lys, XP_016879126.1:p.Thr36Met, NP_001230651.1:p.Thr36Lys, NP_001230651.1:p.Thr36Met

Select item 14779763484.

rs1477976348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:32253610 (GRCh38)
16:32264931 (GRCh37)
Canonical SPDI:: NC_000016.10:32253609:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.32253610C>T, NC_000016.9:g.32264931C>T, XM_017023634.3:c.257C>T, XM_017023634.2:c.257C>T, XM_017023634.1:c.257C>T, XM_017023637.3:c.257C>T, XM_017023637.2:c.257C>T, XM_017023637.1:c.257C>T, NM_001243722.3:c.257C>T, NM_001243722.2:c.257C>T, NM_001243722.1:c.257C>T, NR_158188.2:n.325C>T, NR_158188.1:n.287C>T, NR_158190.2:n.325C>T, NR_158190.1:n.287C>T, NR_158187.2:n.325C>T, NR_158187.1:n.287C>T, NR_158189.2:n.325C>T, NR_158189.1:n.287C>T, XP_016879123.1:p.Ser86Phe, XP_016879126.1:p.Ser86Phe, NP_001230651.1:p.Ser86Phe

Select item 14682137325.

rs1468213732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:32253524 (GRCh38)
16:32264845 (GRCh37)
Canonical SPDI:: NC_000016.10:32253523:G:A
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.32253524G>A, NC_000016.9:g.32264845G>A, XM_017023634.3:c.171G>A, XM_017023634.2:c.171G>A, XM_017023634.1:c.171G>A, XM_017023637.3:c.171G>A, XM_017023637.2:c.171G>A, XM_017023637.1:c.171G>A, NM_001243722.3:c.171G>A, NM_001243722.2:c.171G>A, NM_001243722.1:c.171G>A, NR_158188.2:n.239G>A, NR_158188.1:n.201G>A, NR_158190.2:n.239G>A, NR_158190.1:n.201G>A, NR_158187.2:n.239G>A, NR_158187.1:n.201G>A, NR_158189.2:n.239G>A, NR_158189.1:n.201G>A, NR_110898.2:n.239G>A, NR_110898.1:n.201G>A

Select item 14663120416.

rs1466312041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:32253548 (GRCh38)
16:32264869 (GRCh37)
Canonical SPDI:: NC_000016.10:32253547:T:C
Gene:: TP53TG3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.32253548T>C, NC_000016.9:g.32264869T>C, XM_017023634.3:c.195T>C, XM_017023634.2:c.195T>C, XM_017023634.1:c.195T>C, XM_017023637.3:c.195T>C, XM_017023637.2:c.195T>C, XM_017023637.1:c.195T>C, NM_001243722.3:c.195T>C, NM_001243722.2:c.195T>C, NM_001243722.1:c.195T>C, NR_158188.2:n.263T>C, NR_158188.1:n.225T>C, NR_158190.2:n.263T>C, NR_158190.1:n.225T>C, NR_158187.2:n.263T>C, NR_158187.1:n.225T>C, NR_158189.2:n.263T>C, NR_158189.1:n.225T>C, NR_110898.2:n.263T>C, NR_110898.1:n.225T>C

Select item 14587787997.

rs1458778799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:32253515 (GRCh38)
16:32264836 (GRCh37)
Canonical SPDI:: NC_000016.10:32253514:C:G
Gene:: TP53TG3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.32253515C>G, NC_000016.9:g.32264836C>G, XM_017023634.3:c.162C>G, XM_017023634.2:c.162C>G, XM_017023634.1:c.162C>G, XM_017023637.3:c.162C>G, XM_017023637.2:c.162C>G, XM_017023637.1:c.162C>G, NM_001243722.3:c.162C>G, NM_001243722.2:c.162C>G, NM_001243722.1:c.162C>G, NR_158188.2:n.230C>G, NR_158188.1:n.192C>G, NR_158190.2:n.230C>G, NR_158190.1:n.192C>G, NR_158187.2:n.230C>G, NR_158187.1:n.192C>G, NR_158189.2:n.230C>G, NR_158189.1:n.192C>G, NR_110898.2:n.230C>G, NR_110898.1:n.192C>G

Select item 14521178038.

rs1452117803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:32253480 (GRCh38)
16:32264801 (GRCh37)
Canonical SPDI:: NC_000016.10:32253479:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.32253480C>T, NC_000016.9:g.32264801C>T, XM_017023634.3:c.127C>T, XM_017023634.2:c.127C>T, XM_017023634.1:c.127C>T, XM_017023637.3:c.127C>T, XM_017023637.2:c.127C>T, XM_017023637.1:c.127C>T, NM_001243722.3:c.127C>T, NM_001243722.2:c.127C>T, NM_001243722.1:c.127C>T, NR_158188.2:n.195C>T, NR_158188.1:n.157C>T, NR_158190.2:n.195C>T, NR_158190.1:n.157C>T, NR_158187.2:n.195C>T, NR_158187.1:n.157C>T, NR_158189.2:n.195C>T, NR_158189.1:n.157C>T, NR_110898.2:n.195C>T, NR_110898.1:n.157C>T, XP_016879123.1:p.Pro43Ser, XP_016879126.1:p.Pro43Ser, NP_001230651.1:p.Pro43Ser

Select item 14497642959.

rs1449764295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:32253675 (GRCh38)
16:32264996 (GRCh37)
Canonical SPDI:: NC_000016.10:32253674:G:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000016.10:g.32253675G>T, NC_000016.9:g.32264996G>T, XM_017023634.3:c.322G>T, XM_017023634.2:c.322G>T, XM_017023634.1:c.322G>T, XM_017023637.3:c.322G>T, XM_017023637.2:c.322G>T, XM_017023637.1:c.322G>T, NM_001243722.3:c.322G>T, NM_001243722.2:c.322G>T, NM_001243722.1:c.322G>T, NR_158188.2:n.390G>T, NR_158188.1:n.352G>T, NR_158190.2:n.390G>T, NR_158190.1:n.352G>T, NR_158187.2:n.390G>T, NR_158187.1:n.352G>T, NR_158189.2:n.390G>T, NR_158189.1:n.352G>T, XP_016879123.1:p.Gly108Cys, XP_016879126.1:p.Gly108Cys, NP_001230651.1:p.Gly108Cys

Select item 144783545410.

rs1447835454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:32253477 (GRCh38)
16:32264798 (GRCh37)
Canonical SPDI:: NC_000016.10:32253476:G:A,NC_000016.10:32253476:G:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.32253477G>A, NC_000016.10:g.32253477G>T, NC_000016.9:g.32264798G>A, NC_000016.9:g.32264798G>T, XM_017023634.3:c.124G>A, XM_017023634.3:c.124G>T, XM_017023634.2:c.124G>A, XM_017023634.2:c.124G>T, XM_017023634.1:c.124G>A, XM_017023634.1:c.124G>T, XM_017023637.3:c.124G>A, XM_017023637.3:c.124G>T, XM_017023637.2:c.124G>A, XM_017023637.2:c.124G>T, XM_017023637.1:c.124G>A, XM_017023637.1:c.124G>T, NM_001243722.3:c.124G>A, NM_001243722.3:c.124G>T, NM_001243722.2:c.124G>A, NM_001243722.2:c.124G>T, NM_001243722.1:c.124G>A, NM_001243722.1:c.124G>T, NR_158188.2:n.192G>A, NR_158188.2:n.192G>T, NR_158188.1:n.154G>A, NR_158188.1:n.154G>T, NR_158190.2:n.192G>A, NR_158190.2:n.192G>T, NR_158190.1:n.154G>A, NR_158190.1:n.154G>T, NR_158187.2:n.192G>A, NR_158187.2:n.192G>T, NR_158187.1:n.154G>A, NR_158187.1:n.154G>T, NR_158189.2:n.192G>A, NR_158189.2:n.192G>T, NR_158189.1:n.154G>A, NR_158189.1:n.154G>T, NR_110898.2:n.192G>A, NR_110898.2:n.192G>T, NR_110898.1:n.154G>A, NR_110898.1:n.154G>T, XP_016879123.1:p.Ala42Thr, XP_016879123.1:p.Ala42Ser, XP_016879126.1:p.Ala42Thr, XP_016879126.1:p.Ala42Ser, NP_001230651.1:p.Ala42Thr, NP_001230651.1:p.Ala42Ser

Select item 144782430411.

rs1447824304 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:32253486 (GRCh38)
16:32264807 (GRCh37)
Canonical SPDI:: NC_000016.10:32253485:CCC:CC
Gene:: TP53TG3D (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.32253488del, NC_000016.9:g.32264809del, XM_017023634.3:c.135del, XM_017023634.2:c.135del, XM_017023634.1:c.135del, XM_017023637.3:c.135del, XM_017023637.2:c.135del, XM_017023637.1:c.135del, NM_001243722.3:c.135del, NM_001243722.2:c.135del, NM_001243722.1:c.135del, NR_158188.2:n.203del, NR_158188.1:n.165del, NR_158190.2:n.203del, NR_158190.1:n.165del, NR_158187.2:n.203del, NR_158187.1:n.165del, NR_158189.2:n.203del, NR_158189.1:n.165del, NR_110898.2:n.203del, NR_110898.1:n.165del, XP_016879123.1:p.Ala46fs, XP_016879126.1:p.Ala46fs, NP_001230651.1:p.Ala46fs

Select item 144456401012.

rs1444564010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:32253685 (GRCh38)
16:32265006 (GRCh37)
Canonical SPDI:: NC_000016.10:32253684:C:A,NC_000016.10:32253684:C:G,NC_000016.10:32253684:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.32253685C>A, NC_000016.10:g.32253685C>G, NC_000016.10:g.32253685C>T, NC_000016.9:g.32265006C>A, NC_000016.9:g.32265006C>G, NC_000016.9:g.32265006C>T, XM_017023634.3:c.332C>A, XM_017023634.3:c.332C>G, XM_017023634.3:c.332C>T, XM_017023634.2:c.332C>A, XM_017023634.2:c.332C>G, XM_017023634.2:c.332C>T, XM_017023634.1:c.332C>A, XM_017023634.1:c.332C>G, XM_017023634.1:c.332C>T, XM_017023637.3:c.332C>A, XM_017023637.3:c.332C>G, XM_017023637.3:c.332C>T, XM_017023637.2:c.332C>A, XM_017023637.2:c.332C>G, XM_017023637.2:c.332C>T, XM_017023637.1:c.332C>A, XM_017023637.1:c.332C>G, XM_017023637.1:c.332C>T, NM_001243722.3:c.332C>A, NM_001243722.3:c.332C>G, NM_001243722.3:c.332C>T, NM_001243722.2:c.332C>A, NM_001243722.2:c.332C>G, NM_001243722.2:c.332C>T, NM_001243722.1:c.332C>A, NM_001243722.1:c.332C>G, NM_001243722.1:c.332C>T, NR_158188.2:n.400C>A, NR_158188.2:n.400C>G, NR_158188.2:n.400C>T, NR_158188.1:n.362C>A, NR_158188.1:n.362C>G, NR_158188.1:n.362C>T, NR_158190.2:n.400C>A, NR_158190.2:n.400C>G, NR_158190.2:n.400C>T, NR_158190.1:n.362C>A, NR_158190.1:n.362C>G, NR_158190.1:n.362C>T, NR_158187.2:n.400C>A, NR_158187.2:n.400C>G, NR_158187.2:n.400C>T, NR_158187.1:n.362C>A, NR_158187.1:n.362C>G, NR_158187.1:n.362C>T, NR_158189.2:n.400C>A, NR_158189.2:n.400C>G, NR_158189.2:n.400C>T, NR_158189.1:n.362C>A, NR_158189.1:n.362C>G, NR_158189.1:n.362C>T, XP_016879123.1:p.Pro111His, XP_016879123.1:p.Pro111Arg, XP_016879123.1:p.Pro111Leu, XP_016879126.1:p.Pro111His, XP_016879126.1:p.Pro111Arg, XP_016879126.1:p.Pro111Leu, NP_001230651.1:p.Pro111His, NP_001230651.1:p.Pro111Arg, NP_001230651.1:p.Pro111Leu

Select item 144115901613.

rs1441159016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTTCCGCTCCC [Show Flanks]
Chromosome:: 16:32253469 (GRCh38)
16:32264791 (GRCh37)
Canonical SPDI:: NC_000016.10:32253469:CGGTTCCGCTCCC:CGGTTCCGCTCCCGGTTCCGCTCCC
Gene:: TP53TG3D (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.32253471_32253482dup, NC_000016.9:g.32264792_32264803dup, XM_017023634.3:c.118_129dup, XM_017023634.2:c.118_129dup, XM_017023634.1:c.118_129dup, XM_017023637.3:c.118_129dup, XM_017023637.2:c.118_129dup, XM_017023637.1:c.118_129dup, NM_001243722.3:c.118_129dup, NM_001243722.2:c.118_129dup, NM_001243722.1:c.118_129dup, NR_158188.2:n.186_197dup, NR_158188.1:n.148_159dup, NR_158190.2:n.186_197dup, NR_158190.1:n.148_159dup, NR_158187.2:n.186_197dup, NR_158187.1:n.148_159dup, NR_158189.2:n.186_197dup, NR_158189.1:n.148_159dup, NR_110898.2:n.186_197dup, NR_110898.1:n.148_159dup, XP_016879123.1:p.Gly40_Pro43dup, XP_016879126.1:p.Gly40_Pro43dup, NP_001230651.1:p.Gly40_Pro43dup

Select item 143863624914.

rs1438636249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:32253560 (GRCh38)
16:32264881 (GRCh37)
Canonical SPDI:: NC_000016.10:32253559:G:A,NC_000016.10:32253559:G:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.32253560G>A, NC_000016.10:g.32253560G>T, NC_000016.9:g.32264881G>A, NC_000016.9:g.32264881G>T, XM_017023634.3:c.207G>A, XM_017023634.3:c.207G>T, XM_017023634.2:c.207G>A, XM_017023634.2:c.207G>T, XM_017023634.1:c.207G>A, XM_017023634.1:c.207G>T, XM_017023637.3:c.207G>A, XM_017023637.3:c.207G>T, XM_017023637.2:c.207G>A, XM_017023637.2:c.207G>T, XM_017023637.1:c.207G>A, XM_017023637.1:c.207G>T, NM_001243722.3:c.207G>A, NM_001243722.3:c.207G>T, NM_001243722.2:c.207G>A, NM_001243722.2:c.207G>T, NM_001243722.1:c.207G>A, NM_001243722.1:c.207G>T, NR_158188.2:n.275G>A, NR_158188.2:n.275G>T, NR_158188.1:n.237G>A, NR_158188.1:n.237G>T, NR_158190.2:n.275G>A, NR_158190.2:n.275G>T, NR_158190.1:n.237G>A, NR_158190.1:n.237G>T, NR_158187.2:n.275G>A, NR_158187.2:n.275G>T, NR_158187.1:n.237G>A, NR_158187.1:n.237G>T, NR_158189.2:n.275G>A, NR_158189.2:n.275G>T, NR_158189.1:n.237G>A, NR_158189.1:n.237G>T, NR_110898.2:n.275G>A, NR_110898.2:n.275G>T, NR_110898.1:n.237G>A, NR_110898.1:n.237G>T, XP_016879123.1:p.Glu69Asp, XP_016879126.1:p.Glu69Asp, NP_001230651.1:p.Glu69Asp

Select item 142927479515.

rs1429274795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:32253428 (GRCh38)
16:32264749 (GRCh37)
Canonical SPDI:: NC_000016.10:32253427:C:G,NC_000016.10:32253427:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253428C>G, NC_000016.10:g.32253428C>T, NC_000016.9:g.32264749C>G, NC_000016.9:g.32264749C>T, XM_017023634.3:c.75C>G, XM_017023634.3:c.75C>T, XM_017023634.2:c.75C>G, XM_017023634.2:c.75C>T, XM_017023634.1:c.75C>G, XM_017023634.1:c.75C>T, XM_017023637.3:c.75C>G, XM_017023637.3:c.75C>T, XM_017023637.2:c.75C>G, XM_017023637.2:c.75C>T, XM_017023637.1:c.75C>G, XM_017023637.1:c.75C>T, NM_001243722.3:c.75C>G, NM_001243722.3:c.75C>T, NM_001243722.2:c.75C>G, NM_001243722.2:c.75C>T, NM_001243722.1:c.75C>G, NM_001243722.1:c.75C>T, NR_158188.2:n.143C>G, NR_158188.2:n.143C>T, NR_158188.1:n.105C>G, NR_158188.1:n.105C>T, NR_158190.2:n.143C>G, NR_158190.2:n.143C>T, NR_158190.1:n.105C>G, NR_158190.1:n.105C>T, NR_158187.2:n.143C>G, NR_158187.2:n.143C>T, NR_158187.1:n.105C>G, NR_158187.1:n.105C>T, NR_158189.2:n.143C>G, NR_158189.2:n.143C>T, NR_158189.1:n.105C>G, NR_158189.1:n.105C>T, NR_110898.2:n.143C>G, NR_110898.2:n.143C>T, NR_110898.1:n.105C>G, NR_110898.1:n.105C>T

Select item 142641694316.

rs1426416943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:32253526 (GRCh38)
16:32264847 (GRCh37)
Canonical SPDI:: NC_000016.10:32253525:A:C
Gene:: TP53TG3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.32253526A>C, NC_000016.9:g.32264847A>C, XM_017023634.3:c.173A>C, XM_017023634.2:c.173A>C, XM_017023634.1:c.173A>C, XM_017023637.3:c.173A>C, XM_017023637.2:c.173A>C, XM_017023637.1:c.173A>C, NM_001243722.3:c.173A>C, NM_001243722.2:c.173A>C, NM_001243722.1:c.173A>C, NR_158188.2:n.241A>C, NR_158188.1:n.203A>C, NR_158190.2:n.241A>C, NR_158190.1:n.203A>C, NR_158187.2:n.241A>C, NR_158187.1:n.203A>C, NR_158189.2:n.241A>C, NR_158189.1:n.203A>C, NR_110898.2:n.241A>C, NR_110898.1:n.203A>C, XP_016879123.1:p.Glu58Ala, XP_016879126.1:p.Glu58Ala, NP_001230651.1:p.Glu58Ala

Select item 142401088817.

rs1424010888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:32253411 (GRCh38)
16:32264732 (GRCh37)
Canonical SPDI:: NC_000016.10:32253410:G:A
Gene:: TP53TG3D (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00059/7 (ALFA)
A=0.00033/18 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253411G>A, NC_000016.9:g.32264732G>A, XM_017023634.3:c.58G>A, XM_017023634.2:c.58G>A, XM_017023634.1:c.58G>A, XM_017023637.3:c.58G>A, XM_017023637.2:c.58G>A, XM_017023637.1:c.58G>A, NM_001243722.3:c.58G>A, NM_001243722.2:c.58G>A, NM_001243722.1:c.58G>A, NR_158188.2:n.126G>A, NR_158188.1:n.88G>A, NR_158190.2:n.126G>A, NR_158190.1:n.88G>A, NR_158187.2:n.126G>A, NR_158187.1:n.88G>A, NR_158189.2:n.126G>A, NR_158189.1:n.88G>A, NR_110898.2:n.126G>A, NR_110898.1:n.88G>A, XP_016879123.1:p.Ala20Thr, XP_016879126.1:p.Ala20Thr, NP_001230651.1:p.Ala20Thr

Select item 142105678918.

rs1421056789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:32253416 (GRCh38)
16:32264737 (GRCh37)
Canonical SPDI:: NC_000016.10:32253415:G:A
Gene:: TP53TG3D (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0003/4 (ALFA)
A=0.00002/1 (GnomAD)
A=0.0005/27 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253416G>A, NC_000016.9:g.32264737G>A, XM_017023634.3:c.63G>A, XM_017023634.2:c.63G>A, XM_017023634.1:c.63G>A, XM_017023637.3:c.63G>A, XM_017023637.2:c.63G>A, XM_017023637.1:c.63G>A, NM_001243722.3:c.63G>A, NM_001243722.2:c.63G>A, NM_001243722.1:c.63G>A, NR_158188.2:n.131G>A, NR_158188.1:n.93G>A, NR_158190.2:n.131G>A, NR_158190.1:n.93G>A, NR_158187.2:n.131G>A, NR_158187.1:n.93G>A, NR_158189.2:n.131G>A, NR_158189.1:n.93G>A, NR_110898.2:n.131G>A, NR_110898.1:n.93G>A

Select item 141572287019.

rs1415722870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:32253410 (GRCh38)
16:32264731 (GRCh37)
Canonical SPDI:: NC_000016.10:32253409:T:C
Gene:: TP53TG3D (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.32253410T>C, NC_000016.9:g.32264731T>C, XM_017023634.3:c.57T>C, XM_017023634.2:c.57T>C, XM_017023634.1:c.57T>C, XM_017023637.3:c.57T>C, XM_017023637.2:c.57T>C, XM_017023637.1:c.57T>C, NM_001243722.3:c.57T>C, NM_001243722.2:c.57T>C, NM_001243722.1:c.57T>C, NR_158188.2:n.125T>C, NR_158188.1:n.87T>C, NR_158190.2:n.125T>C, NR_158190.1:n.87T>C, NR_158187.2:n.125T>C, NR_158187.1:n.87T>C, NR_158189.2:n.125T>C, NR_158189.1:n.87T>C, NR_110898.2:n.125T>C, NR_110898.1:n.87T>C

Select item 141440513420.

rs1414405134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:32253529 (GRCh38)
16:32264850 (GRCh37)
Canonical SPDI:: NC_000016.10:32253528:C:T
Gene:: TP53TG3D (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.32253529C>T, NC_000016.9:g.32264850C>T, XM_017023634.3:c.176C>T, XM_017023634.2:c.176C>T, XM_017023634.1:c.176C>T, XM_017023637.3:c.176C>T, XM_017023637.2:c.176C>T, XM_017023637.1:c.176C>T, NM_001243722.3:c.176C>T, NM_001243722.2:c.176C>T, NM_001243722.1:c.176C>T, NR_158188.2:n.244C>T, NR_158188.1:n.206C>T, NR_158190.2:n.244C>T, NR_158190.1:n.206C>T, NR_158187.2:n.244C>T, NR_158187.1:n.206C>T, NR_158189.2:n.244C>T, NR_158189.1:n.206C>T, NR_110898.2:n.244C>T, NR_110898.1:n.206C>T, XP_016879123.1:p.Pro59Leu, XP_016879126.1:p.Pro59Leu, NP_001230651.1:p.Pro59Leu

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 160

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 160

Page of 8

Page of 8

Display Settings:

Supplemental Content

Find related data

Recent activity