SNP Links for Protein (Select 767953024) - SNP

Links from Protein

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Select item 14899476641.

rs1489947664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144440055 (GRCh38)
8:145665438 (GRCh37)
Canonical SPDI:: NC_000008.11:144440054:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.144440055G>A, NC_000008.10:g.145665438G>A, NM_013432.5:c.1446C>T, NM_013432.4:c.1446C>T, XM_011517048.3:c.474C>T, XM_011517048.2:c.474C>T, XM_011517048.1:c.474C>T, XM_011517049.3:c.438C>T, XM_011517049.2:c.438C>T, XM_011517049.1:c.438C>T, XM_011517050.3:c.1446C>T, XM_011517050.2:c.1446C>T, XM_011517050.1:c.1446C>T

Select item 14894705782.

rs1489470578 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:144438525 (GRCh38)
8:145663908 (GRCh37)
Canonical SPDI:: NC_000008.11:144438524:C:
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144438525del, NC_000008.10:g.145663908del, NM_013432.5:c.1599del, NM_013432.4:c.1599del, XM_011517048.3:c.627del, XM_011517048.2:c.627del, XM_011517048.1:c.627del, XM_011517049.3:c.591del, XM_011517049.2:c.591del, XM_011517049.1:c.591del, XM_011517050.3:c.1599del, XM_011517050.2:c.1599del, XM_011517050.1:c.1599del, NP_038460.4:p.His534fs, XP_011515350.1:p.His210fs, XP_011515351.1:p.His198fs, XP_011515352.1:p.His534fs

Select item 14867868223.

rs1486786822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:144430487 (GRCh38)
8:145655870 (GRCh37)
Canonical SPDI:: NC_000008.11:144430486:G:A,NC_000008.11:144430486:G:C,NC_000008.11:144430486:G:T
Gene:: TONSL (Varview), VPS28 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144430487G>A, NC_000008.11:g.144430487G>C, NC_000008.11:g.144430487G>T, NW_003315924.1:g.199746G>A, NW_003315924.1:g.199746G>C, NW_003315924.1:g.199746G>T, NG_029456.2:g.3058C>T, NG_029456.2:g.3058C>G, NG_029456.2:g.3058C>A, NW_018654716.1:g.161089G>A, NW_018654716.1:g.161089G>C, NW_018654716.1:g.161089G>T, NC_000008.10:g.145655870G>A, NC_000008.10:g.145655870G>C, NC_000008.10:g.145655870G>T, NM_013432.5:c.3860C>T, NM_013432.5:c.3860C>G, NM_013432.5:c.3860C>A, NM_013432.4:c.3860C>T, NM_013432.4:c.3860C>G, NM_013432.4:c.3860C>A, XM_011517048.3:c.2888C>T, XM_011517048.3:c.2888C>G, XM_011517048.3:c.2888C>A, XM_011517048.2:c.2888C>T, XM_011517048.2:c.2888C>G, XM_011517048.2:c.2888C>A, XM_011517048.1:c.2888C>T, XM_011517048.1:c.2888C>G, XM_011517048.1:c.2888C>A, XM_011517049.3:c.2852C>T, XM_011517049.3:c.2852C>G, XM_011517049.3:c.2852C>A, XM_011517049.2:c.2852C>T, XM_011517049.2:c.2852C>G, XM_011517049.2:c.2852C>A, XM_011517049.1:c.2852C>T, XM_011517049.1:c.2852C>G, XM_011517049.1:c.2852C>A, NP_038460.4:p.Pro1287Leu, NP_038460.4:p.Pro1287Arg, NP_038460.4:p.Pro1287His, XP_011515350.1:p.Pro963Leu, XP_011515350.1:p.Pro963Arg, XP_011515350.1:p.Pro963His, XP_011515351.1:p.Pro951Leu, XP_011515351.1:p.Pro951Arg, XP_011515351.1:p.Pro951His

Select item 14856186134.

rs1485618613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144435805 (GRCh38)
8:145661188 (GRCh37)
Canonical SPDI:: NC_000008.11:144435804:G:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144435805G>T, NC_000008.10:g.145661188G>T, NM_013432.5:c.2628C>A, NM_013432.4:c.2628C>A, XM_011517048.3:c.1656C>A, XM_011517048.2:c.1656C>A, XM_011517048.1:c.1656C>A, XM_011517049.3:c.1620C>A, XM_011517049.2:c.1620C>A, XM_011517049.1:c.1620C>A, XM_011517050.3:c.2628C>A, XM_011517050.2:c.2628C>A, XM_011517050.1:c.2628C>A

Select item 14846357675.

rs1484635767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144435549 (GRCh38)
8:145660932 (GRCh37)
Canonical SPDI:: NC_000008.11:144435548:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.144435549C>T, NC_000008.10:g.145660932C>T, NM_013432.5:c.2777G>A, NM_013432.4:c.2777G>A, XM_011517048.3:c.1805G>A, XM_011517048.2:c.1805G>A, XM_011517048.1:c.1805G>A, XM_011517049.3:c.1769G>A, XM_011517049.2:c.1769G>A, XM_011517049.1:c.1769G>A, XM_011517050.3:c.2781G>A, XM_011517050.2:c.2781G>A, XM_011517050.1:c.2781G>A, NP_038460.4:p.Gly926Asp, XP_011515350.1:p.Gly602Asp, XP_011515351.1:p.Gly590Asp

Select item 14845777656.

rs1484577765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144435743 (GRCh38)
8:145661126 (GRCh37)
Canonical SPDI:: NC_000008.11:144435742:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144435743C>T, NC_000008.10:g.145661126C>T, NM_013432.5:c.2690G>A, NM_013432.4:c.2690G>A, XM_011517048.3:c.1718G>A, XM_011517048.2:c.1718G>A, XM_011517048.1:c.1718G>A, XM_011517049.3:c.1682G>A, XM_011517049.2:c.1682G>A, XM_011517049.1:c.1682G>A, XM_011517050.3:c.2690G>A, XM_011517050.2:c.2690G>A, XM_011517050.1:c.2690G>A, NP_038460.4:p.Ser897Asn, XP_011515350.1:p.Ser573Asn, XP_011515351.1:p.Ser561Asn, XP_011515352.1:p.Ser897Asn

Select item 14831700087.

rs1483170008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:144432319 (GRCh38)
8:145657702 (GRCh37)
Canonical SPDI:: NC_000008.11:144432318:T:G
Gene:: TONSL (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144432319T>G, NW_003315924.1:g.201578T>G, NG_029456.2:g.1226A>C, NW_018654716.1:g.162921T>G, NC_000008.10:g.145657702T>G, NM_013432.5:c.3701A>C, NM_013432.4:c.3701A>C, XM_011517048.3:c.2729A>C, XM_011517048.2:c.2729A>C, XM_011517048.1:c.2729A>C, XM_011517049.3:c.2693A>C, XM_011517049.2:c.2693A>C, XM_011517049.1:c.2693A>C, NP_038460.4:p.Asp1234Ala, XP_011515350.1:p.Asp910Ala, XP_011515351.1:p.Asp898Ala

Select item 14810661508.

rs1481066150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:144436272 (GRCh38)
8:145661655 (GRCh37)
Canonical SPDI:: NC_000008.11:144436271:C:G,NC_000008.11:144436271:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144436272C>G, NC_000008.11:g.144436272C>T, NC_000008.10:g.145661655C>G, NC_000008.10:g.145661655C>T, NM_013432.5:c.2161G>C, NM_013432.5:c.2161G>A, NM_013432.4:c.2161G>C, NM_013432.4:c.2161G>A, XM_011517048.3:c.1189G>C, XM_011517048.3:c.1189G>A, XM_011517048.2:c.1189G>C, XM_011517048.2:c.1189G>A, XM_011517048.1:c.1189G>C, XM_011517048.1:c.1189G>A, XM_011517049.3:c.1153G>C, XM_011517049.3:c.1153G>A, XM_011517049.2:c.1153G>C, XM_011517049.2:c.1153G>A, XM_011517049.1:c.1153G>C, XM_011517049.1:c.1153G>A, XM_011517050.3:c.2161G>C, XM_011517050.3:c.2161G>A, XM_011517050.2:c.2161G>C, XM_011517050.2:c.2161G>A, XM_011517050.1:c.2161G>C, XM_011517050.1:c.2161G>A, NP_038460.4:p.Gly721Arg, NP_038460.4:p.Gly721Arg, XP_011515350.1:p.Gly397Arg, XP_011515350.1:p.Gly397Arg, XP_011515351.1:p.Gly385Arg, XP_011515351.1:p.Gly385Arg, XP_011515352.1:p.Gly721Arg, XP_011515352.1:p.Gly721Arg

Select item 14791791799.

rs1479179179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144440169 (GRCh38)
8:145665552 (GRCh37)
Canonical SPDI:: NC_000008.11:144440168:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144440169C>T, NC_000008.10:g.145665552C>T, NM_013432.5:c.1332G>A, NM_013432.4:c.1332G>A, XM_011517048.3:c.360G>A, XM_011517048.2:c.360G>A, XM_011517048.1:c.360G>A, XM_011517049.3:c.324G>A, XM_011517049.2:c.324G>A, XM_011517049.1:c.324G>A, XM_011517050.3:c.1332G>A, XM_011517050.2:c.1332G>A, XM_011517050.1:c.1332G>A

Select item 147902280410.

rs1479022804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144438480 (GRCh38)
8:145663863 (GRCh37)
Canonical SPDI:: NC_000008.11:144438479:A:G
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.144438480A>G, NC_000008.10:g.145663863A>G, NM_013432.5:c.1644T>C, NM_013432.4:c.1644T>C, XM_011517048.3:c.672T>C, XM_011517048.2:c.672T>C, XM_011517048.1:c.672T>C, XM_011517049.3:c.636T>C, XM_011517049.2:c.636T>C, XM_011517049.1:c.636T>C, XM_011517050.3:c.1644T>C, XM_011517050.2:c.1644T>C, XM_011517050.1:c.1644T>C

Select item 147617871011.

rs1476178710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:144435972 (GRCh38)
8:145661355 (GRCh37)
Canonical SPDI:: NC_000008.11:144435971:G:C,NC_000008.11:144435971:G:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000008.11:g.144435972G>C, NC_000008.11:g.144435972G>T, NC_000008.10:g.145661355G>C, NC_000008.10:g.145661355G>T, NM_013432.5:c.2461C>G, NM_013432.5:c.2461C>A, NM_013432.4:c.2461C>G, NM_013432.4:c.2461C>A, XM_011517048.3:c.1489C>G, XM_011517048.3:c.1489C>A, XM_011517048.2:c.1489C>G, XM_011517048.2:c.1489C>A, XM_011517048.1:c.1489C>G, XM_011517048.1:c.1489C>A, XM_011517049.3:c.1453C>G, XM_011517049.3:c.1453C>A, XM_011517049.2:c.1453C>G, XM_011517049.2:c.1453C>A, XM_011517049.1:c.1453C>G, XM_011517049.1:c.1453C>A, XM_011517050.3:c.2461C>G, XM_011517050.3:c.2461C>A, XM_011517050.2:c.2461C>G, XM_011517050.2:c.2461C>A, XM_011517050.1:c.2461C>G, XM_011517050.1:c.2461C>A, NP_038460.4:p.Gln821Glu, NP_038460.4:p.Gln821Lys, XP_011515350.1:p.Gln497Glu, XP_011515350.1:p.Gln497Lys, XP_011515351.1:p.Gln485Glu, XP_011515351.1:p.Gln485Lys, XP_011515352.1:p.Gln821Glu, XP_011515352.1:p.Gln821Lys

Select item 147524284512.

rs1475242845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144436637 (GRCh38)
8:145662020 (GRCh37)
Canonical SPDI:: NC_000008.11:144436636:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144436637G>A, NC_000008.10:g.145662020G>A, NM_013432.5:c.1935C>T, NM_013432.4:c.1935C>T, XM_011517048.3:c.963C>T, XM_011517048.2:c.963C>T, XM_011517048.1:c.963C>T, XM_011517049.3:c.927C>T, XM_011517049.2:c.927C>T, XM_011517049.1:c.927C>T, XM_011517050.3:c.1935C>T, XM_011517050.2:c.1935C>T, XM_011517050.1:c.1935C>T

Select item 147520825813.

rs1475208258 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:144435751 (GRCh38)
8:145661134 (GRCh37)
Canonical SPDI:: NC_000008.11:144435750:CCC:CC
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144435753del, NC_000008.10:g.145661136del, NM_013432.5:c.2682del, NM_013432.4:c.2682del, XM_011517048.3:c.1710del, XM_011517048.2:c.1710del, XM_011517048.1:c.1710del, XM_011517049.3:c.1674del, XM_011517049.2:c.1674del, XM_011517049.1:c.1674del, XM_011517050.3:c.2682del, XM_011517050.2:c.2682del, XM_011517050.1:c.2682del, NP_038460.4:p.Ser896fs, XP_011515350.1:p.Ser572fs, XP_011515351.1:p.Ser560fs, XP_011515352.1:p.Ser896fs

Select item 147422161714.

rs1474221617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144435491 (GRCh38)
8:145660874 (GRCh37)
Canonical SPDI:: NC_000008.11:144435490:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000008.11:g.144435491G>A, NC_000008.10:g.145660874G>A, NM_013432.5:c.2835C>T, NM_013432.4:c.2835C>T, XM_011517048.3:c.1863C>T, XM_011517048.2:c.1863C>T, XM_011517048.1:c.1863C>T, XM_011517049.3:c.1827C>T, XM_011517049.2:c.1827C>T, XM_011517049.1:c.1827C>T, XM_011517050.3:c.2839C>T, XM_011517050.2:c.2839C>T, XM_011517050.1:c.2839C>T, XP_011515352.1:p.His947Tyr

Select item 147417099415.

rs1474170994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144430469 (GRCh38)
8:145655852 (GRCh37)
Canonical SPDI:: NC_000008.11:144430468:C:T
Gene:: TONSL (Varview), VPS28 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144430469C>T, NW_003315924.1:g.199728C>T, NG_029456.2:g.3076G>A, NW_018654716.1:g.161071C>T, NC_000008.10:g.145655852C>T, NM_013432.5:c.3878G>A, NM_013432.4:c.3878G>A, XM_011517048.3:c.2906G>A, XM_011517048.2:c.2906G>A, XM_011517048.1:c.2906G>A, XM_011517049.3:c.2870G>A, XM_011517049.2:c.2870G>A, XM_011517049.1:c.2870G>A, NP_038460.4:p.Ser1293Asn, XP_011515350.1:p.Ser969Asn, XP_011515351.1:p.Ser957Asn

Select item 147348331316.

rs1473483313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144440035 (GRCh38)
8:145665418 (GRCh37)
Canonical SPDI:: NC_000008.11:144440034:T:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144440035T>A, NC_000008.10:g.145665418T>A, NM_013432.5:c.1466A>T, NM_013432.4:c.1466A>T, XM_011517048.3:c.494A>T, XM_011517048.2:c.494A>T, XM_011517048.1:c.494A>T, XM_011517049.3:c.458A>T, XM_011517049.2:c.458A>T, XM_011517049.1:c.458A>T, XM_011517050.3:c.1466A>T, XM_011517050.2:c.1466A>T, XM_011517050.1:c.1466A>T, NP_038460.4:p.Glu489Val, XP_011515350.1:p.Glu165Val, XP_011515351.1:p.Glu153Val, XP_011515352.1:p.Glu489Val

Select item 147330398017.

rs1473303980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144435762 (GRCh38)
8:145661145 (GRCh37)
Canonical SPDI:: NC_000008.11:144435761:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.144435762C>T, NC_000008.10:g.145661145C>T, NM_013432.5:c.2671G>A, NM_013432.4:c.2671G>A, XM_011517048.3:c.1699G>A, XM_011517048.2:c.1699G>A, XM_011517048.1:c.1699G>A, XM_011517049.3:c.1663G>A, XM_011517049.2:c.1663G>A, XM_011517049.1:c.1663G>A, XM_011517050.3:c.2671G>A, XM_011517050.2:c.2671G>A, XM_011517050.1:c.2671G>A, NP_038460.4:p.Val891Ile, XP_011515350.1:p.Val567Ile, XP_011515351.1:p.Val555Ile, XP_011515352.1:p.Val891Ile

Select item 147296809918.

rs1472968099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144436909 (GRCh38)
8:145662292 (GRCh37)
Canonical SPDI:: NC_000008.11:144436908:A:G
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144436909A>G, NC_000008.10:g.145662292A>G, NM_013432.5:c.1738T>C, NM_013432.4:c.1738T>C, XM_011517048.3:c.766T>C, XM_011517048.2:c.766T>C, XM_011517048.1:c.766T>C, XM_011517049.3:c.730T>C, XM_011517049.2:c.730T>C, XM_011517049.1:c.730T>C, XM_011517050.3:c.1738T>C, XM_011517050.2:c.1738T>C, XM_011517050.1:c.1738T>C, NR_109770.1:n.432A>G, NP_038460.4:p.Phe580Leu, XP_011515350.1:p.Phe256Leu, XP_011515351.1:p.Phe244Leu, XP_011515352.1:p.Phe580Leu

Select item 147296529319.

rs1472965293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:144440136 (GRCh38)
8:145665519 (GRCh37)
Canonical SPDI:: NC_000008.11:144440135:T:A,NC_000008.11:144440135:T:C
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
C=0.00055/1 (Korea1K)
HGVS:: NC_000008.11:g.144440136T>A, NC_000008.11:g.144440136T>C, NC_000008.10:g.145665519T>A, NC_000008.10:g.145665519T>C, NM_013432.5:c.1365A>T, NM_013432.5:c.1365A>G, NM_013432.4:c.1365A>T, NM_013432.4:c.1365A>G, XM_011517048.3:c.393A>T, XM_011517048.3:c.393A>G, XM_011517048.2:c.393A>T, XM_011517048.2:c.393A>G, XM_011517048.1:c.393A>T, XM_011517048.1:c.393A>G, XM_011517049.3:c.357A>T, XM_011517049.3:c.357A>G, XM_011517049.2:c.357A>T, XM_011517049.2:c.357A>G, XM_011517049.1:c.357A>T, XM_011517049.1:c.357A>G, XM_011517050.3:c.1365A>T, XM_011517050.3:c.1365A>G, XM_011517050.2:c.1365A>T, XM_011517050.2:c.1365A>G, XM_011517050.1:c.1365A>T, XM_011517050.1:c.1365A>G, NP_038460.4:p.Arg455Ser, XP_011515350.1:p.Arg131Ser, XP_011515351.1:p.Arg119Ser, XP_011515352.1:p.Arg455Ser

Select item 147069016520.

rs1470690165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144435813 (GRCh38)
8:145661196 (GRCh37)
Canonical SPDI:: NC_000008.11:144435812:C:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144435813C>A, NC_000008.10:g.145661196C>A, NM_013432.5:c.2620G>T, NM_013432.4:c.2620G>T, XM_011517048.3:c.1648G>T, XM_011517048.2:c.1648G>T, XM_011517048.1:c.1648G>T, XM_011517049.3:c.1612G>T, XM_011517049.2:c.1612G>T, XM_011517049.1:c.1612G>T, XM_011517050.3:c.2620G>T, XM_011517050.2:c.2620G>T, XM_011517050.1:c.2620G>T, NP_038460.4:p.Ala874Ser, XP_011515350.1:p.Ala550Ser, XP_011515351.1:p.Ala538Ser, XP_011515352.1:p.Ala874Ser

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