SNP Links for Protein (Select 47132524) - SNP

Links from Protein

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Select item 14882221121.

rs1488222112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:50012841 (GRCh38)
13:50586977 (GRCh37)
Canonical SPDI:: NC_000013.11:50012840:C:G
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.50012841C>G, NC_000013.10:g.50586977C>G, NM_005798.5:c.901C>G, NM_005798.4:c.901C>G, NM_005798.3:c.901C>G, NM_052811.4:c.901C>G, NM_052811.3:c.901C>G, NM_052811.2:c.901C>G, NM_213590.3:c.901C>G, NM_213590.2:c.901C>G, NM_213590.1:c.901C>G, NM_001007278.3:c.910C>G, NM_001007278.2:c.910C>G, NM_001007278.1:c.910C>G, NP_005789.2:p.Gln301Glu, NP_434698.1:p.Gln301Glu, NP_998755.1:p.Gln301Glu, NP_001007279.1:p.Gln304Glu

Select item 14854440542.

rs1485444054 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAA [Show Flanks]
Chromosome:: 13:50013120 (GRCh38)
13:50587257 (GRCh37)
Canonical SPDI:: NC_000013.11:50013120:TGAA:TGAATGAA
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAATGAA=0./0 (ALFA)
TGAA=0.000007/1 (GnomAD)
TGAA=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.50013121_50013124dup, NC_000013.10:g.50587257_50587260dup, NM_005798.5:c.1181_1184dup, NM_005798.4:c.1181_1184dup, NM_005798.3:c.1181_1184dup, NM_052811.4:c.1181_1184dup, NM_052811.3:c.1181_1184dup, NM_052811.2:c.1181_1184dup, NM_213590.3:c.1181_1184dup, NM_213590.2:c.1181_1184dup, NM_213590.1:c.1181_1184dup, NM_001007278.3:c.1190_1193dup, NM_001007278.2:c.1190_1193dup, NM_001007278.1:c.1190_1193dup, NP_005789.2:p.Asn396fs, NP_434698.1:p.Asn396fs, NP_998755.1:p.Asn396fs, NP_001007279.1:p.Asn399fs

Select item 14841230433.

rs1484123043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:50012770 (GRCh38)
13:50586906 (GRCh37)
Canonical SPDI:: NC_000013.11:50012769:T:C
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.50012770T>C, NC_000013.10:g.50586906T>C, NM_005798.5:c.830T>C, NM_005798.4:c.830T>C, NM_005798.3:c.830T>C, NM_052811.4:c.830T>C, NM_052811.3:c.830T>C, NM_052811.2:c.830T>C, NM_213590.3:c.830T>C, NM_213590.2:c.830T>C, NM_213590.1:c.830T>C, NM_001007278.3:c.839T>C, NM_001007278.2:c.839T>C, NM_001007278.1:c.839T>C, NP_005789.2:p.Leu277Ser, NP_434698.1:p.Leu277Ser, NP_998755.1:p.Leu277Ser, NP_001007279.1:p.Leu280Ser

Select item 14829019114.

rs1482901911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50013024 (GRCh38)
13:50587160 (GRCh37)
Canonical SPDI:: NC_000013.11:50013023:G:A
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50013024G>A, NC_000013.10:g.50587160G>A, NM_005798.5:c.1084G>A, NM_005798.4:c.1084G>A, NM_005798.3:c.1084G>A, NM_052811.4:c.1084G>A, NM_052811.3:c.1084G>A, NM_052811.2:c.1084G>A, NM_213590.3:c.1084G>A, NM_213590.2:c.1084G>A, NM_213590.1:c.1084G>A, NM_001007278.3:c.1093G>A, NM_001007278.2:c.1093G>A, NM_001007278.1:c.1093G>A, NP_005789.2:p.Ala362Thr, NP_434698.1:p.Ala362Thr, NP_998755.1:p.Ala362Thr, NP_001007279.1:p.Ala365Thr

Select item 14821052905.

rs1482105290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50012772 (GRCh38)
13:50586908 (GRCh37)
Canonical SPDI:: NC_000013.11:50012771:A:G
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012772A>G, NC_000013.10:g.50586908A>G, NM_005798.5:c.832A>G, NM_005798.4:c.832A>G, NM_005798.3:c.832A>G, NM_052811.4:c.832A>G, NM_052811.3:c.832A>G, NM_052811.2:c.832A>G, NM_213590.3:c.832A>G, NM_213590.2:c.832A>G, NM_213590.1:c.832A>G, NM_001007278.3:c.841A>G, NM_001007278.2:c.841A>G, NM_001007278.1:c.841A>G, NP_005789.2:p.Met278Val, NP_434698.1:p.Met278Val, NP_998755.1:p.Met278Val, NP_001007279.1:p.Met281Val

Select item 14818514776.

rs1481851477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:50012764 (GRCh38)
13:50586900 (GRCh37)
Canonical SPDI:: NC_000013.11:50012763:G:C
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012764G>C, NC_000013.10:g.50586900G>C, NM_005798.5:c.824G>C, NM_005798.4:c.824G>C, NM_005798.3:c.824G>C, NM_052811.4:c.824G>C, NM_052811.3:c.824G>C, NM_052811.2:c.824G>C, NM_213590.3:c.824G>C, NM_213590.2:c.824G>C, NM_213590.1:c.824G>C, NM_001007278.3:c.833G>C, NM_001007278.2:c.833G>C, NM_001007278.1:c.833G>C, NP_005789.2:p.Ser275Thr, NP_434698.1:p.Ser275Thr, NP_998755.1:p.Ser275Thr, NP_001007279.1:p.Ser278Thr

Select item 14794724617.

rs1479472461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:50013107 (GRCh38)
13:50587243 (GRCh37)
Canonical SPDI:: NC_000013.11:50013106:T:C
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000013.11:g.50013107T>C, NC_000013.10:g.50587243T>C, NM_005798.5:c.1167T>C, NM_005798.4:c.1167T>C, NM_005798.3:c.1167T>C, NM_052811.4:c.1167T>C, NM_052811.3:c.1167T>C, NM_052811.2:c.1167T>C, NM_213590.3:c.1167T>C, NM_213590.2:c.1167T>C, NM_213590.1:c.1167T>C, NM_001007278.3:c.1176T>C, NM_001007278.2:c.1176T>C, NM_001007278.1:c.1176T>C

Select item 14768540788.

rs1476854078 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAGAC [Show Flanks]
Chromosome:: 13:50012386 (GRCh38)
13:50586523 (GRCh37)
Canonical SPDI:: NC_000013.11:50012386:TGAGAC:TGAGACTGAGAC
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: TGAGAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012387_50012392dup, NC_000013.10:g.50586523_50586528dup, NM_005798.5:c.447_452dup, NM_005798.4:c.447_452dup, NM_005798.3:c.447_452dup, NM_052811.4:c.447_452dup, NM_052811.3:c.447_452dup, NM_052811.2:c.447_452dup, NM_213590.3:c.447_452dup, NM_213590.2:c.447_452dup, NM_213590.1:c.447_452dup, NM_001007278.3:c.456_461dup, NM_001007278.2:c.456_461dup, NM_001007278.1:c.456_461dup, NP_005789.2:p.Glu150_Thr151dup, NP_434698.1:p.Glu150_Thr151dup, NP_998755.1:p.Glu150_Thr151dup, NP_001007279.1:p.Glu153_Thr154dup

Select item 14726726949.

rs1472672694 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:50013029 (GRCh38)
13:50587165 (GRCh37)
Canonical SPDI:: NC_000013.11:50013028:TTT:TT
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50013031del, NC_000013.10:g.50587167del, NM_005798.5:c.1091del, NM_005798.4:c.1091del, NM_005798.3:c.1091del, NM_052811.4:c.1091del, NM_052811.3:c.1091del, NM_052811.2:c.1091del, NM_213590.3:c.1091del, NM_213590.2:c.1091del, NM_213590.1:c.1091del, NM_001007278.3:c.1100del, NM_001007278.2:c.1100del, NM_001007278.1:c.1100del, NP_005789.2:p.Phe364fs, NP_434698.1:p.Phe364fs, NP_998755.1:p.Phe364fs, NP_001007279.1:p.Phe367fs

Select item 147076651110.

rs1470766511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50012188 (GRCh38)
13:50586324 (GRCh37)
Canonical SPDI:: NC_000013.11:50012187:A:G
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012188A>G, NC_000013.10:g.50586324A>G, NM_005798.5:c.248A>G, NM_005798.4:c.248A>G, NM_005798.3:c.248A>G, NM_052811.4:c.248A>G, NM_052811.3:c.248A>G, NM_052811.2:c.248A>G, NM_213590.3:c.248A>G, NM_213590.2:c.248A>G, NM_213590.1:c.248A>G, NM_001007278.3:c.257A>G, NM_001007278.2:c.257A>G, NM_001007278.1:c.257A>G, NP_005789.2:p.Asn83Ser, NP_434698.1:p.Asn83Ser, NP_998755.1:p.Asn83Ser, NP_001007279.1:p.Asn86Ser

Select item 146553959311.

rs1465539593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50012938 (GRCh38)
13:50587074 (GRCh37)
Canonical SPDI:: NC_000013.11:50012937:C:T
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_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_000013.11:g.50012938C>T, NC_000013.10:g.50587074C>T, NM_005798.5:c.998C>T, NM_005798.4:c.998C>T, NM_005798.3:c.998C>T, NM_052811.4:c.998C>T, NM_052811.3:c.998C>T, NM_052811.2:c.998C>T, NM_213590.3:c.998C>T, NM_213590.2:c.998C>T, NM_213590.1:c.998C>T, NM_001007278.3:c.1007C>T, NM_001007278.2:c.1007C>T, NM_001007278.1:c.1007C>T, NP_005789.2:p.Thr333Ile, NP_434698.1:p.Thr333Ile, NP_998755.1:p.Thr333Ile, NP_001007279.1:p.Thr336Ile

Select item 146528735812.

rs1465287358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50012379 (GRCh38)
13:50586515 (GRCh37)
Canonical SPDI:: NC_000013.11:50012378:C:T
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.50012379C>T, NC_000013.10:g.50586515C>T, NM_005798.5:c.439C>T, NM_005798.4:c.439C>T, NM_005798.3:c.439C>T, NM_052811.4:c.439C>T, NM_052811.3:c.439C>T, NM_052811.2:c.439C>T, NM_213590.3:c.439C>T, NM_213590.2:c.439C>T, NM_213590.1:c.439C>T, NM_001007278.3:c.448C>T, NM_001007278.2:c.448C>T, NM_001007278.1:c.448C>T, NP_005789.2:p.Gln147Ter, NP_434698.1:p.Gln147Ter, NP_998755.1:p.Gln147Ter, NP_001007279.1:p.Gln150Ter

Select item 146358224313.

rs1463582243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50012303 (GRCh38)
13:50586439 (GRCh37)
Canonical SPDI:: NC_000013.11:50012302:G:A
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
HGVS:: NC_000013.11:g.50012303G>A, NC_000013.10:g.50586439G>A, NM_005798.5:c.363G>A, NM_005798.4:c.363G>A, NM_005798.3:c.363G>A, NM_052811.4:c.363G>A, NM_052811.3:c.363G>A, NM_052811.2:c.363G>A, NM_213590.3:c.363G>A, NM_213590.2:c.363G>A, NM_213590.1:c.363G>A, NM_001007278.3:c.372G>A, NM_001007278.2:c.372G>A, NM_001007278.1:c.372G>A

Select item 146339753614.

rs1463397536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50012790 (GRCh38)
13:50586926 (GRCh37)
Canonical SPDI:: NC_000013.11:50012789:A:G
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012790A>G, NC_000013.10:g.50586926A>G, NM_005798.5:c.850A>G, NM_005798.4:c.850A>G, NM_005798.3:c.850A>G, NM_052811.4:c.850A>G, NM_052811.3:c.850A>G, NM_052811.2:c.850A>G, NM_213590.3:c.850A>G, NM_213590.2:c.850A>G, NM_213590.1:c.850A>G, NM_001007278.3:c.859A>G, NM_001007278.2:c.859A>G, NM_001007278.1:c.859A>G, NP_005789.2:p.Ser284Gly, NP_434698.1:p.Ser284Gly, NP_998755.1:p.Ser284Gly, NP_001007279.1:p.Ser287Gly

Select item 146188616115.

rs1461886161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:50012725 (GRCh38)
13:50586861 (GRCh37)
Canonical SPDI:: NC_000013.11:50012724:T:A
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.50012725T>A, NC_000013.10:g.50586861T>A, NM_005798.5:c.785T>A, NM_005798.4:c.785T>A, NM_005798.3:c.785T>A, NM_052811.4:c.785T>A, NM_052811.3:c.785T>A, NM_052811.2:c.785T>A, NM_213590.3:c.785T>A, NM_213590.2:c.785T>A, NM_213590.1:c.785T>A, NM_001007278.3:c.794T>A, NM_001007278.2:c.794T>A, NM_001007278.1:c.794T>A, NP_005789.2:p.Ile262Asn, NP_434698.1:p.Ile262Asn, NP_998755.1:p.Ile262Asn, NP_001007279.1:p.Ile265Asn

Select item 145609794516.

rs1456097945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 13:50011989 (GRCh38)
13:50586125 (GRCh37)
Canonical SPDI:: NC_000013.11:50011986:TGTTTG:TG
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50011989_50011992del, NC_000013.10:g.50586125_50586128del, NM_005798.5:c.49_52del, NM_005798.4:c.49_52del, NM_005798.3:c.49_52del, NM_052811.4:c.49_52del, NM_052811.3:c.49_52del, NM_052811.2:c.49_52del, NM_213590.3:c.49_52del, NM_213590.2:c.49_52del, NM_213590.1:c.49_52del, NM_001007278.3:c.58_61del, NM_001007278.2:c.58_61del, NM_001007278.1:c.58_61del, NP_005789.2:p.Phe17fs, NP_434698.1:p.Phe17fs, NP_998755.1:p.Phe17fs, NP_001007279.1:p.Phe20fs

Select item 145497358817.

rs1454973588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 13:50012995 (GRCh38)
13:50587132 (GRCh37)
Canonical SPDI:: NC_000013.11:50012995:A:AGAA
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: AGA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012996_50012997insGAA, NC_000013.10:g.50587132_50587133insGAA, NM_005798.5:c.1056_1057insGAA, NM_005798.4:c.1056_1057insGAA, NM_005798.3:c.1056_1057insGAA, NM_052811.4:c.1056_1057insGAA, NM_052811.3:c.1056_1057insGAA, NM_052811.2:c.1056_1057insGAA, NM_213590.3:c.1056_1057insGAA, NM_213590.2:c.1056_1057insGAA, NM_213590.1:c.1056_1057insGAA, NM_001007278.3:c.1065_1066insGAA, NM_001007278.2:c.1065_1066insGAA, NM_001007278.1:c.1065_1066insGAA, NP_005789.2:p.Asn353_Phe354insGlu, NP_434698.1:p.Asn353_Phe354insGlu, NP_998755.1:p.Asn353_Phe354insGlu, NP_001007279.1:p.Asn356_Phe357insGlu

Select item 144741790418.

rs1447417904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:50012043 (GRCh38)
13:50586179 (GRCh37)
Canonical SPDI:: NC_000013.11:50012042:G:C
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50012043G>C, NC_000013.10:g.50586179G>C, NM_005798.5:c.103G>C, NM_005798.4:c.103G>C, NM_005798.3:c.103G>C, NM_052811.4:c.103G>C, NM_052811.3:c.103G>C, NM_052811.2:c.103G>C, NM_213590.3:c.103G>C, NM_213590.2:c.103G>C, NM_213590.1:c.103G>C, NM_001007278.3:c.112G>C, NM_001007278.2:c.112G>C, NM_001007278.1:c.112G>C, NP_005789.2:p.Glu35Gln, NP_434698.1:p.Glu35Gln, NP_998755.1:p.Glu35Gln, NP_001007279.1:p.Glu38Gln

Select item 144669698919.

rs1446696989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:50012072 (GRCh38)
13:50586208 (GRCh37)
Canonical SPDI:: NC_000013.11:50012071:T:C
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_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_000013.11:g.50012072T>C, NC_000013.10:g.50586208T>C, NM_005798.5:c.132T>C, NM_005798.4:c.132T>C, NM_005798.3:c.132T>C, NM_052811.4:c.132T>C, NM_052811.3:c.132T>C, NM_052811.2:c.132T>C, NM_213590.3:c.132T>C, NM_213590.2:c.132T>C, NM_213590.1:c.132T>C, NM_001007278.3:c.141T>C, NM_001007278.2:c.141T>C, NM_001007278.1:c.141T>C

Select item 144643263620.

rs1446432636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50013065 (GRCh38)
13:50587201 (GRCh37)
Canonical SPDI:: NC_000013.11:50013064:G:A
Gene:: DLEU2 (Varview), TRIM13 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50013065G>A, NC_000013.10:g.50587201G>A, NM_005798.5:c.1125G>A, NM_005798.4:c.1125G>A, NM_005798.3:c.1125G>A, NM_052811.4:c.1125G>A, NM_052811.3:c.1125G>A, NM_052811.2:c.1125G>A, NM_213590.3:c.1125G>A, NM_213590.2:c.1125G>A, NM_213590.1:c.1125G>A, NM_001007278.3:c.1134G>A, NM_001007278.2:c.1134G>A, NM_001007278.1:c.1134G>A

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