SNP Links for Protein (Select 20070130) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:73504377 (GRCh38)
5:72800202 (GRCh37)
Canonical SPDI:: NC_000005.10:73504376:G:C
Gene:: BTF3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73504377G>C, NC_000005.9:g.72800202G>C, NM_001207.5:c.416G>C, NM_001207.4:c.416G>C, NM_001037637.2:c.548G>C, NM_001037637.1:c.548G>C, NP_001198.2:p.Gly139Ala, NP_001032726.1:p.Gly183Ala

Select item 14247148558.

rs1424714855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:73502529 (GRCh38)
5:72798354 (GRCh37)
Canonical SPDI:: NC_000005.10:73502528:C:A,NC_000005.10:73502528:C:T
Gene:: BTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.73502529C>A, NC_000005.10:g.73502529C>T, NC_000005.9:g.72798354C>A, NC_000005.9:g.72798354C>T, NM_001207.5:c.111C>A, NM_001207.5:c.111C>T, NM_001207.4:c.111C>A, NM_001207.4:c.111C>T, NM_001037637.2:c.243C>A, NM_001037637.2:c.243C>T, NM_001037637.1:c.243C>A, NM_001037637.1:c.243C>T, NM_001393652.1:c.243C>A, NM_001393652.1:c.243C>T, NM_001393653.1:c.111C>A, NM_001393653.1:c.111C>T

Select item 14223546829.

rs1422354682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:73503036 (GRCh38)
5:72798861 (GRCh37)
Canonical SPDI:: NC_000005.10:73503035:A:G,NC_000005.10:73503035:A:T
Gene:: BTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73503036A>G, NC_000005.10:g.73503036A>T, NC_000005.9:g.72798861A>G, NC_000005.9:g.72798861A>T, NM_001207.5:c.304A>G, NM_001207.5:c.304A>T, NM_001207.4:c.304A>G, NM_001207.4:c.304A>T, NM_001037637.2:c.436A>G, NM_001037637.2:c.436A>T, NM_001037637.1:c.436A>G, NM_001037637.1:c.436A>T, NM_001393652.1:c.436A>G, NM_001393652.1:c.436A>T, NM_001393653.1:c.304A>G, NM_001393653.1:c.304A>T, NP_001198.2:p.Met102Val, NP_001198.2:p.Met102Leu, NP_001032726.1:p.Met146Val, NP_001032726.1:p.Met146Leu, NP_001380581.1:p.Met146Val, NP_001380581.1:p.Met146Leu, NP_001380582.1:p.Met102Val, NP_001380582.1:p.Met102Leu

Select item 141968446510.

rs1419684465 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 5:73502509 (GRCh38)
5:72798334 (GRCh37)
Canonical SPDI:: NC_000005.10:73502502:AAGAAGAAG:AAGAAG
Gene:: BTF3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
HGVS:: NC_000005.10:g.73502503AAG[2], NC_000005.9:g.72798328AAG[2], NM_001207.5:c.85AAG[2], NM_001207.4:c.85AAG[2], NM_001037637.2:c.217AAG[2], NM_001037637.1:c.217AAG[2], NM_001393652.1:c.217AAG[2], NM_001393653.1:c.85AAG[2], NP_001198.2:p.Lys31del, NP_001032726.1:p.Lys75del, NP_001380581.1:p.Lys75del, NP_001380582.1:p.Lys31del

Select item 140995146011.

rs1409951460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73503019 (GRCh38)
5:72798844 (GRCh37)
Canonical SPDI:: NC_000005.10:73503018:C:T
Gene:: BTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.73503019C>T, NC_000005.9:g.72798844C>T, NM_001207.5:c.287C>T, NM_001207.4:c.287C>T, NM_001037637.2:c.419C>T, NM_001037637.1:c.419C>T, NM_001393652.1:c.419C>T, NM_001393653.1:c.287C>T, NP_001198.2:p.Thr96Ile, NP_001032726.1:p.Thr140Ile, NP_001380581.1:p.Thr140Ile, NP_001380582.1:p.Thr96Ile

Select item 139874804712.

rs1398748047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:73503014 (GRCh38)
5:72798839 (GRCh37)
Canonical SPDI:: NC_000005.10:73503013:T:C
Gene:: BTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73503014T>C, NC_000005.9:g.72798839T>C, NM_001207.5:c.282T>C, NM_001207.4:c.282T>C, NM_001037637.2:c.414T>C, NM_001037637.1:c.414T>C, NM_001393652.1:c.414T>C, NM_001393653.1:c.282T>C

Select item 139815763513.

rs1398157635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:73502490 (GRCh38)
5:72798315 (GRCh37)
Canonical SPDI:: NC_000005.10:73502489:A:G,NC_000005.10:73502489:A:T
Gene:: BTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73502490A>G, NC_000005.10:g.73502490A>T, NC_000005.9:g.72798315A>G, NC_000005.9:g.72798315A>T, NM_001207.5:c.72A>G, NM_001207.5:c.72A>T, NM_001207.4:c.72A>G, NM_001207.4:c.72A>T, NM_001037637.2:c.204A>G, NM_001037637.2:c.204A>T, NM_001037637.1:c.204A>G, NM_001037637.1:c.204A>T, NM_001393652.1:c.204A>G, NM_001393652.1:c.204A>T, NM_001393653.1:c.72A>G, NM_001393653.1:c.72A>T

Select item 139203193814.

rs1392031938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73499146 (GRCh38)
5:72794971 (GRCh37)
Canonical SPDI:: NC_000005.10:73499145:A:G
Gene:: BTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73499146A>G, NC_000005.9:g.72794971A>G, NM_001207.5:c.13A>G, NM_001207.4:c.13A>G, NM_001037637.2:c.145A>G, NM_001037637.1:c.145A>G, NM_001393652.1:c.145A>G, NM_001393653.1:c.13A>G, NP_001198.2:p.Ile5Val, NP_001032726.1:p.Ile49Val, NP_001380581.1:p.Ile49Val, NP_001380582.1:p.Ile5Val

Select item 138373685215.

rs1383736852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:73504387 (GRCh38)
5:72800212 (GRCh37)
Canonical SPDI:: NC_000005.10:73504386:T:A
Gene:: BTF3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73504387T>A, NC_000005.9:g.72800212T>A, NM_001207.5:c.426T>A, NM_001207.4:c.426T>A, NM_001037637.2:c.558T>A, NM_001037637.1:c.558T>A, NP_001198.2:p.Asp142Glu, NP_001032726.1:p.Asp186Glu

Select item 137900962616.

rs1379009626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:73502510 (GRCh38)
5:72798335 (GRCh37)
Canonical SPDI:: NC_000005.10:73502509:A:T
Gene:: BTF3 (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_000005.10:g.73502510A>T, NC_000005.9:g.72798335A>T, NM_001207.5:c.92A>T, NM_001207.4:c.92A>T, NM_001037637.2:c.224A>T, NM_001037637.1:c.224A>T, NM_001393652.1:c.224A>T, NM_001393653.1:c.92A>T, NP_001198.2:p.Lys31Met, NP_001032726.1:p.Lys75Met, NP_001380581.1:p.Lys75Met, NP_001380582.1:p.Lys31Met

Select item 136915304017.

rs1369153040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73504401 (GRCh38)
5:72800226 (GRCh37)
Canonical SPDI:: NC_000005.10:73504400:C:T
Gene:: BTF3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73504401C>T, NC_000005.9:g.72800226C>T, NM_001207.5:c.440C>T, NM_001207.4:c.440C>T, NM_001037637.2:c.572C>T, NM_001037637.1:c.572C>T, NP_001198.2:p.Pro147Leu, NP_001032726.1:p.Pro191Leu

Select item 136716004118.

rs1367160041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:73502979 (GRCh38)
5:72798804 (GRCh37)
Canonical SPDI:: NC_000005.10:73502978:C:G
Gene:: BTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.73502979C>G, NC_000005.9:g.72798804C>G, NM_001207.5:c.247C>G, NM_001207.4:c.247C>G, NM_001037637.2:c.379C>G, NM_001037637.1:c.379C>G, NM_001393652.1:c.379C>G, NM_001393653.1:c.247C>G, NP_001198.2:p.Leu83Val, NP_001032726.1:p.Leu127Val, NP_001380581.1:p.Leu127Val, NP_001380582.1:p.Leu83Val

Select item 136279657419.

rs1362796574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73502565 (GRCh38)
5:72798390 (GRCh37)
Canonical SPDI:: NC_000005.10:73502564:G:A
Gene:: BTF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73502565G>A, NC_000005.9:g.72798390G>A, NM_001207.5:c.147G>A, NM_001207.4:c.147G>A, NM_001037637.2:c.279G>A, NM_001037637.1:c.279G>A, NM_001393652.1:c.279G>A, NM_001393653.1:c.147G>A

Select item 135838220620.

rs1358382206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73502532 (GRCh38)
5:72798357 (GRCh37)
Canonical SPDI:: NC_000005.10:73502531:A:G
Gene:: BTF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.73502532A>G, NC_000005.9:g.72798357A>G, NM_001207.5:c.114A>G, NM_001207.4:c.114A>G, NM_001037637.2:c.246A>G, NM_001037637.1:c.246A>G, NM_001393652.1:c.246A>G, NM_001393653.1:c.114A>G

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