SNP Links for Protein (Select 30410765) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69829934 (GRCh38)
2:70057066 (GRCh37)
Canonical SPDI:: NC_000002.12:69829933:A:G
Gene:: GMCL1 (Varview), LOC124906021 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.69829934A>G, NC_000002.11:g.70057066A>G, NM_178439.5:c.42A>G, NM_178439.4:c.42A>G, NM_178439.3:c.42A>G, XM_011533033.3:c.42A>G, XM_011533033.2:c.42A>G, XM_011533033.1:c.42A>G, XR_007079574.1:n.275A>G

Select item 14804901397.

rs1480490139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:69830047 (GRCh38)
2:70057179 (GRCh37)
Canonical SPDI:: NC_000002.12:69830046:G:T
Gene:: GMCL1 (Varview), LOC124906021 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.69830047G>T, NC_000002.11:g.70057179G>T, NM_178439.5:c.155G>T, NM_178439.4:c.155G>T, NM_178439.3:c.155G>T, XM_011533033.3:c.155G>T, XM_011533033.2:c.155G>T, XM_011533033.1:c.155G>T, XR_007079574.1:n.388G>T, NP_848526.1:p.Arg52Leu, XP_011531335.1:p.Arg52Leu

Select item 14756181538.

rs1475618153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69869850 (GRCh38)
2:70096982 (GRCh37)
Canonical SPDI:: NC_000002.12:69869849:G:A
Gene:: GMCL1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.69869850G>A, NC_000002.11:g.70096982G>A, NM_178439.5:c.1350G>A, NM_178439.4:c.1350G>A, NM_178439.3:c.1350G>A, XM_011533033.3:c.1212G>A, XM_011533033.2:c.1212G>A, XM_011533033.1:c.1212G>A, XM_011533034.3:c.804G>A, XM_011533034.2:c.804G>A, XM_011533034.1:c.804G>A, XM_017004705.2:c.741G>A, XM_017004705.1:c.741G>A, XM_047445416.1:c.582G>A, NM_022471.1:c.948G>A

Select item 14612713489.

rs1461271348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:69830067 (GRCh38)
2:70057199 (GRCh37)
Canonical SPDI:: NC_000002.12:69830066:T:C,NC_000002.12:69830066:T:G
Gene:: GMCL1 (Varview), LOC124906021 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.69830067T>C, NC_000002.12:g.69830067T>G, NC_000002.11:g.70057199T>C, NC_000002.11:g.70057199T>G, NM_178439.5:c.175T>C, NM_178439.5:c.175T>G, NM_178439.4:c.175T>C, NM_178439.4:c.175T>G, NM_178439.3:c.175T>C, NM_178439.3:c.175T>G, XM_011533033.3:c.175T>C, XM_011533033.3:c.175T>G, XM_011533033.2:c.175T>C, XM_011533033.2:c.175T>G, XM_011533033.1:c.175T>C, XM_011533033.1:c.175T>G, XR_007079574.1:n.408T>C, XR_007079574.1:n.408T>G, NP_848526.1:p.Phe59Leu, NP_848526.1:p.Phe59Val, XP_011531335.1:p.Phe59Leu, XP_011531335.1:p.Phe59Val

Select item 145868185910.

rs1458681859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69841022 (GRCh38)
2:70068154 (GRCh37)
Canonical SPDI:: NC_000002.12:69841021:G:A
Gene:: GMCL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69841022G>A, NC_000002.11:g.70068154G>A, NM_178439.5:c.562G>A, NM_178439.4:c.562G>A, NM_178439.3:c.562G>A, XM_011533033.3:c.562G>A, XM_011533033.2:c.562G>A, XM_011533033.1:c.562G>A, XM_011533034.3:c.-46G>A, XM_011533034.2:c.-46G>A, XM_011533034.1:c.-46G>A, NM_022471.1:c.160G>A, XR_007079574.1:n.795G>A, NP_848526.1:p.Ala188Thr, XP_011531335.1:p.Ala188Thr

Select item 145832259911.

rs1458322599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69837586 (GRCh38)
2:70064718 (GRCh37)
Canonical SPDI:: NC_000002.12:69837585:A:G
Gene:: GMCL1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69837586A>G, NC_000002.11:g.70064718A>G, NM_178439.5:c.300A>G, NM_178439.4:c.300A>G, NM_178439.3:c.300A>G, XM_011533033.3:c.300A>G, XM_011533033.2:c.300A>G, XM_011533033.1:c.300A>G, XR_007079574.1:n.533A>G

Select item 145828148812.

rs1458281488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:69830009 (GRCh38)
2:70057141 (GRCh37)
Canonical SPDI:: NC_000002.12:69830008:G:A,NC_000002.12:69830008:G:T
Gene:: GMCL1 (Varview), LOC124906021 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69830009G>A, NC_000002.12:g.69830009G>T, NC_000002.11:g.70057141G>A, NC_000002.11:g.70057141G>T, NM_178439.5:c.117G>A, NM_178439.5:c.117G>T, NM_178439.4:c.117G>A, NM_178439.4:c.117G>T, NM_178439.3:c.117G>A, NM_178439.3:c.117G>T, XM_011533033.3:c.117G>A, XM_011533033.3:c.117G>T, XM_011533033.2:c.117G>A, XM_011533033.2:c.117G>T, XM_011533033.1:c.117G>A, XM_011533033.1:c.117G>T, XR_007079574.1:n.350G>A, XR_007079574.1:n.350G>T

Select item 145820328813.

rs1458203288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:69840960 (GRCh38)
2:70068092 (GRCh37)
Canonical SPDI:: NC_000002.12:69840959:G:C,NC_000002.12:69840959:G:T
Gene:: GMCL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.69840960G>C, NC_000002.12:g.69840960G>T, NC_000002.11:g.70068092G>C, NC_000002.11:g.70068092G>T, NM_178439.5:c.500G>C, NM_178439.5:c.500G>T, NM_178439.4:c.500G>C, NM_178439.4:c.500G>T, NM_178439.3:c.500G>C, NM_178439.3:c.500G>T, XM_011533033.3:c.500G>C, XM_011533033.3:c.500G>T, XM_011533033.2:c.500G>C, XM_011533033.2:c.500G>T, XM_011533033.1:c.500G>C, XM_011533033.1:c.500G>T, XM_011533034.3:c.-108G>C, XM_011533034.3:c.-108G>T, XM_011533034.2:c.-108G>C, XM_011533034.2:c.-108G>T, XM_011533034.1:c.-108G>C, XM_011533034.1:c.-108G>T, NM_022471.1:c.98G>C, NM_022471.1:c.98G>T, XR_007079574.1:n.733G>C, XR_007079574.1:n.733G>T, NP_848526.1:p.Gly167Ala, NP_848526.1:p.Gly167Val, XP_011531335.1:p.Gly167Ala, XP_011531335.1:p.Gly167Val

Select item 145784570314.

rs1457845703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:69837658 (GRCh38)
2:70064790 (GRCh37)
Canonical SPDI:: NC_000002.12:69837657:A:T
Gene:: GMCL1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.69837658A>T, NC_000002.11:g.70064790A>T, NM_178439.5:c.372A>T, NM_178439.4:c.372A>T, NM_178439.3:c.372A>T, XM_011533033.3:c.372A>T, XM_011533033.2:c.372A>T, XM_011533033.1:c.372A>T, NM_022471.1:c.-31A>T, XR_007079574.1:n.605A>T

Select item 145774407515.

rs1457744075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:69829951 (GRCh38)
2:70057083 (GRCh37)
Canonical SPDI:: NC_000002.12:69829950:C:A
Gene:: GMCL1 (Varview), LOC124906021 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69829951C>A, NC_000002.11:g.70057083C>A, NM_178439.5:c.59C>A, NM_178439.4:c.59C>A, NM_178439.3:c.59C>A, XM_011533033.3:c.59C>A, XM_011533033.2:c.59C>A, XM_011533033.1:c.59C>A, XR_007079574.1:n.292C>A, NP_848526.1:p.Ala20Glu, XP_011531335.1:p.Ala20Glu

Select item 145252590916.

rs1452525909 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGT>- [Show Flanks]
Chromosome:: 2:69871770 (GRCh38)
2:70098902 (GRCh37)
Canonical SPDI:: NC_000002.12:69871765:TAGTAGT:TAGT
Gene:: GMCL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TAGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.69871767AGT[1], NC_000002.11:g.70098899AGT[1], NM_178439.5:c.1387AGT[1], NM_178439.4:c.1387AGT[1], NM_178439.3:c.1387AGT[1], XM_011533033.3:c.1249AGT[1], XM_011533033.2:c.1249AGT[1], XM_011533033.1:c.1249AGT[1], XM_011533034.3:c.841AGT[1], XM_011533034.2:c.841AGT[1], XM_011533034.1:c.841AGT[1], XM_017004705.2:c.778AGT[1], XM_017004705.1:c.778AGT[1], XM_047445416.1:c.619AGT[1], NM_022471.1:c.985AGT[1], NP_848526.1:p.Ser464del, XP_011531335.1:p.Ser418del, XP_011531336.1:p.Ser282del, XP_016860194.1:p.Ser261del, XP_047301372.1:p.Ser208del

Select item 144960949517.

rs1449609495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69844131 (GRCh38)
2:70071263 (GRCh37)
Canonical SPDI:: NC_000002.12:69844130:G:A
Gene:: GMCL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.69844131G>A, NC_000002.11:g.70071263G>A, NM_178439.5:c.693G>A, NM_178439.4:c.693G>A, NM_178439.3:c.693G>A, XM_011533033.3:c.693G>A, XM_011533033.2:c.693G>A, XM_011533033.1:c.693G>A, XM_011533034.3:c.147G>A, XM_011533034.2:c.147G>A, XM_011533034.1:c.147G>A, XM_017004705.2:c.84G>A, XM_017004705.1:c.84G>A, NM_022471.1:c.291G>A, XR_007079574.1:n.926G>A

Select item 144898521318.

rs1448985213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:69869833 (GRCh38)
2:70096965 (GRCh37)
Canonical SPDI:: NC_000002.12:69869832:A:T
Gene:: GMCL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69869833A>T, NC_000002.11:g.70096965A>T, NM_178439.5:c.1333A>T, NM_178439.4:c.1333A>T, NM_178439.3:c.1333A>T, XM_011533033.3:c.1195A>T, XM_011533033.2:c.1195A>T, XM_011533033.1:c.1195A>T, XM_011533034.3:c.787A>T, XM_011533034.2:c.787A>T, XM_011533034.1:c.787A>T, XM_017004705.2:c.724A>T, XM_017004705.1:c.724A>T, XM_047445416.1:c.565A>T, NM_022471.1:c.931A>T, NP_848526.1:p.Ser445Cys, XP_011531335.1:p.Ser399Cys, XP_011531336.1:p.Ser263Cys, XP_016860194.1:p.Ser242Cys, XP_047301372.1:p.Ser189Cys

Select item 144306700219.

rs1443067002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:69861315 (GRCh38)
2:70088447 (GRCh37)
Canonical SPDI:: NC_000002.12:69861314:T:C
Gene:: GMCL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.69861315T>C, NC_000002.11:g.70088447T>C, NM_178439.5:c.1110T>C, NM_178439.4:c.1110T>C, NM_178439.3:c.1110T>C, XM_011533033.3:c.972T>C, XM_011533033.2:c.972T>C, XM_011533033.1:c.972T>C, XM_011533034.3:c.564T>C, XM_011533034.2:c.564T>C, XM_011533034.1:c.564T>C, XM_017004705.2:c.501T>C, XM_017004705.1:c.501T>C, XM_047445416.1:c.342T>C, NM_022471.1:c.708T>C, XR_007079574.1:n.1343T>C

Select item 144235620220.

rs1442356202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:69847552 (GRCh38)
2:70074684 (GRCh37)
Canonical SPDI:: NC_000002.12:69847551:C:A,NC_000002.12:69847551:C:T
Gene:: GMCL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69847552C>A, NC_000002.12:g.69847552C>T, NC_000002.11:g.70074684C>A, NC_000002.11:g.70074684C>T, NM_178439.5:c.768C>A, NM_178439.5:c.768C>T, NM_178439.4:c.768C>A, NM_178439.4:c.768C>T, NM_178439.3:c.768C>A, NM_178439.3:c.768C>T, XM_011533033.3:c.768C>A, XM_011533033.3:c.768C>T, XM_011533033.2:c.768C>A, XM_011533033.2:c.768C>T, XM_011533033.1:c.768C>A, XM_011533033.1:c.768C>T, XM_011533034.3:c.222C>A, XM_011533034.3:c.222C>T, XM_011533034.2:c.222C>A, XM_011533034.2:c.222C>T, XM_011533034.1:c.222C>A, XM_011533034.1:c.222C>T, XM_017004705.2:c.159C>A, XM_017004705.2:c.159C>T, XM_017004705.1:c.159C>A, XM_017004705.1:c.159C>T, XM_047445416.1:c.-1C>A, XM_047445416.1:c.-1C>T, NM_022471.1:c.366C>A, NM_022471.1:c.366C>T, XR_007079574.1:n.1001C>A, XR_007079574.1:n.1001C>T

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