SNP Links for Protein (Select 751247018) - SNP

Links from Protein

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Select item 14554237151.

rs1455423715 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 14:58410909 (GRCh38)
14:58877627 (GRCh37)
Canonical SPDI:: NC_000014.9:58410908:TTT:TT
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58410911del, NC_000014.8:g.58877629del, NM_012460.4:c.69del, NM_012460.3:c.69del, NM_012460.2:c.69del, NR_130750.2:n.447del, NR_130750.1:n.530del, NM_001304485.2:c.69del, NM_001304485.1:c.69del, NM_001304487.2:c.69del, NM_001304487.1:c.69del, XM_047431264.1:c.69del, NM_001304488.1:c.69del, NM_001304489.1:c.69del, NM_001304490.1:c.69del, NM_001304486.1:c.69del, NR_130751.1:n.307del, NR_130752.1:n.219del, NM_001304491.1:c.69del, NP_036592.1:p.Lys23fs, NP_001291414.1:p.Lys23fs, NP_001291416.1:p.Lys23fs, XP_047287220.1:p.Lys23fs, NP_001291417.1:p.Lys23fs, NP_001291418.1:p.Lys23fs, NP_001291419.1:p.Lys23fs, NP_001291415.1:p.Lys23fs, NP_001291420.1:p.Lys23fs

Select item 14422629392.

rs1442262939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:58410850 (GRCh38)
14:58877568 (GRCh37)
Canonical SPDI:: NC_000014.9:58410849:G:A,NC_000014.9:58410849:G:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58410850G>A, NC_000014.9:g.58410850G>C, NC_000014.8:g.58877568G>A, NC_000014.8:g.58877568G>C, NM_012460.4:c.128C>T, NM_012460.4:c.128C>G, NM_012460.3:c.128C>T, NM_012460.3:c.128C>G, NM_012460.2:c.128C>T, NM_012460.2:c.128C>G, NR_130750.2:n.506C>T, NR_130750.2:n.506C>G, NR_130750.1:n.589C>T, NR_130750.1:n.589C>G, NM_001304485.2:c.128C>T, NM_001304485.2:c.128C>G, NM_001304485.1:c.128C>T, NM_001304485.1:c.128C>G, NM_001304487.2:c.128C>T, NM_001304487.2:c.128C>G, NM_001304487.1:c.128C>T, NM_001304487.1:c.128C>G, XM_047431264.1:c.128C>T, XM_047431264.1:c.128C>G, NM_001304488.1:c.128C>T, NM_001304488.1:c.128C>G, NM_001304489.1:c.128C>T, NM_001304489.1:c.128C>G, NM_001304490.1:c.128C>T, NM_001304490.1:c.128C>G, NM_001304486.1:c.128C>T, NM_001304486.1:c.128C>G, NR_130751.1:n.366C>T, NR_130751.1:n.366C>G, NR_130752.1:n.278C>T, NR_130752.1:n.278C>G, NM_001304491.1:c.128C>T, NM_001304491.1:c.128C>G, NP_036592.1:p.Pro43Leu, NP_036592.1:p.Pro43Arg, NP_001291414.1:p.Pro43Leu, NP_001291414.1:p.Pro43Arg, NP_001291416.1:p.Pro43Leu, NP_001291416.1:p.Pro43Arg, XP_047287220.1:p.Pro43Leu, XP_047287220.1:p.Pro43Arg, NP_001291417.1:p.Pro43Leu, NP_001291417.1:p.Pro43Arg, NP_001291418.1:p.Pro43Leu, NP_001291418.1:p.Pro43Arg, NP_001291419.1:p.Pro43Leu, NP_001291419.1:p.Pro43Arg, NP_001291415.1:p.Pro43Leu, NP_001291415.1:p.Pro43Arg, NP_001291420.1:p.Pro43Leu, NP_001291420.1:p.Pro43Arg

Select item 14323291273.

rs1432329127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:58410883 (GRCh38)
14:58877601 (GRCh37)
Canonical SPDI:: NC_000014.9:58410882:C:A
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58410883C>A, NC_000014.8:g.58877601C>A, NM_012460.4:c.95G>T, NM_012460.3:c.95G>T, NM_012460.2:c.95G>T, NR_130750.2:n.473G>T, NR_130750.1:n.556G>T, NM_001304485.2:c.95G>T, NM_001304485.1:c.95G>T, NM_001304487.2:c.95G>T, NM_001304487.1:c.95G>T, XM_047431264.1:c.95G>T, NM_001304488.1:c.95G>T, NM_001304489.1:c.95G>T, NM_001304490.1:c.95G>T, NM_001304486.1:c.95G>T, NR_130751.1:n.333G>T, NR_130752.1:n.245G>T, NM_001304491.1:c.95G>T, NP_036592.1:p.Cys32Phe, NP_001291414.1:p.Cys32Phe, NP_001291416.1:p.Cys32Phe, XP_047287220.1:p.Cys32Phe, NP_001291417.1:p.Cys32Phe, NP_001291418.1:p.Cys32Phe, NP_001291419.1:p.Cys32Phe, NP_001291415.1:p.Cys32Phe, NP_001291420.1:p.Cys32Phe

Select item 14107436104.

rs1410743610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58411928 (GRCh38)
14:58878646 (GRCh37)
Canonical SPDI:: NC_000014.9:58411927:T:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58411928T>C, NC_000014.8:g.58878646T>C, NM_012460.4:c.18A>G, NM_012460.3:c.18A>G, NM_012460.2:c.18A>G, NM_001304485.2:c.18A>G, NM_001304485.1:c.18A>G, NM_001304487.2:c.18A>G, NM_001304487.1:c.18A>G, XM_047431264.1:c.18A>G, NM_001304488.1:c.18A>G, NM_001304489.1:c.18A>G, NM_001304490.1:c.18A>G, NM_001304486.1:c.18A>G, NM_001304491.1:c.18A>G

Select item 13658381705.

rs1365838170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58411935 (GRCh38)
14:58878653 (GRCh37)
Canonical SPDI:: NC_000014.9:58411934:T:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.58411935T>C, NC_000014.8:g.58878653T>C, NM_012460.4:c.11A>G, NM_012460.3:c.11A>G, NM_012460.2:c.11A>G, NM_001304485.2:c.11A>G, NM_001304485.1:c.11A>G, NM_001304487.2:c.11A>G, NM_001304487.1:c.11A>G, XM_047431264.1:c.11A>G, NM_001304488.1:c.11A>G, NM_001304489.1:c.11A>G, NM_001304490.1:c.11A>G, NM_001304486.1:c.11A>G, NM_001304491.1:c.11A>G, NP_036592.1:p.Gln4Arg, NP_001291414.1:p.Gln4Arg, NP_001291416.1:p.Gln4Arg, XP_047287220.1:p.Gln4Arg, NP_001291417.1:p.Gln4Arg, NP_001291418.1:p.Gln4Arg, NP_001291419.1:p.Gln4Arg, NP_001291415.1:p.Gln4Arg, NP_001291420.1:p.Gln4Arg

Select item 13482890126.

rs1348289012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58411913 (GRCh38)
14:58878631 (GRCh37)
Canonical SPDI:: NC_000014.9:58411912:T:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.58411913T>C, NC_000014.8:g.58878631T>C, NM_012460.4:c.33A>G, NM_012460.3:c.33A>G, NM_012460.2:c.33A>G, NM_001304485.2:c.33A>G, NM_001304485.1:c.33A>G, NM_001304487.2:c.33A>G, NM_001304487.1:c.33A>G, XM_047431264.1:c.33A>G, NM_001304488.1:c.33A>G, NM_001304489.1:c.33A>G, NM_001304490.1:c.33A>G, NM_001304486.1:c.33A>G, NM_001304491.1:c.33A>G, NP_036592.1:p.Ile11Met, NP_001291414.1:p.Ile11Met, NP_001291416.1:p.Ile11Met, XP_047287220.1:p.Ile11Met, NP_001291417.1:p.Ile11Met, NP_001291418.1:p.Ile11Met, NP_001291419.1:p.Ile11Met, NP_001291415.1:p.Ile11Met, NP_001291420.1:p.Ile11Met

Select item 13453902427.

rs1345390242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58410881 (GRCh38)
14:58877599 (GRCh37)
Canonical SPDI:: NC_000014.9:58410880:C:T
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58410881C>T, NC_000014.8:g.58877599C>T, NM_012460.4:c.97G>A, NM_012460.3:c.97G>A, NM_012460.2:c.97G>A, NR_130750.2:n.475G>A, NR_130750.1:n.558G>A, NM_001304485.2:c.97G>A, NM_001304485.1:c.97G>A, NM_001304487.2:c.97G>A, NM_001304487.1:c.97G>A, XM_047431264.1:c.97G>A, NM_001304488.1:c.97G>A, NM_001304489.1:c.97G>A, NM_001304490.1:c.97G>A, NM_001304486.1:c.97G>A, NR_130751.1:n.335G>A, NR_130752.1:n.247G>A, NM_001304491.1:c.97G>A, NP_036592.1:p.Val33Ile, NP_001291414.1:p.Val33Ile, NP_001291416.1:p.Val33Ile, XP_047287220.1:p.Val33Ile, NP_001291417.1:p.Val33Ile, NP_001291418.1:p.Val33Ile, NP_001291419.1:p.Val33Ile, NP_001291415.1:p.Val33Ile, NP_001291420.1:p.Val33Ile

Select item 13348552278.

rs1334855227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58410857 (GRCh38)
14:58877575 (GRCh37)
Canonical SPDI:: NC_000014.9:58410856:C:T
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58410857C>T, NC_000014.8:g.58877575C>T, NM_012460.4:c.121G>A, NM_012460.3:c.121G>A, NM_012460.2:c.121G>A, NR_130750.2:n.499G>A, NR_130750.1:n.582G>A, NM_001304485.2:c.121G>A, NM_001304485.1:c.121G>A, NM_001304487.2:c.121G>A, NM_001304487.1:c.121G>A, XM_047431264.1:c.121G>A, NM_001304488.1:c.121G>A, NM_001304489.1:c.121G>A, NM_001304490.1:c.121G>A, NM_001304486.1:c.121G>A, NR_130751.1:n.359G>A, NR_130752.1:n.271G>A, NM_001304491.1:c.121G>A, NP_036592.1:p.Val41Ile, NP_001291414.1:p.Val41Ile, NP_001291416.1:p.Val41Ile, XP_047287220.1:p.Val41Ile, NP_001291417.1:p.Val41Ile, NP_001291418.1:p.Val41Ile, NP_001291419.1:p.Val41Ile, NP_001291415.1:p.Val41Ile, NP_001291420.1:p.Val41Ile

Select item 13264328939.

rs1326432893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58410863 (GRCh38)
14:58877581 (GRCh37)
Canonical SPDI:: NC_000014.9:58410862:T:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.58410863T>C, NC_000014.8:g.58877581T>C, NM_012460.4:c.115A>G, NM_012460.3:c.115A>G, NM_012460.2:c.115A>G, NR_130750.2:n.493A>G, NR_130750.1:n.576A>G, NM_001304485.2:c.115A>G, NM_001304485.1:c.115A>G, NM_001304487.2:c.115A>G, NM_001304487.1:c.115A>G, XM_047431264.1:c.115A>G, NM_001304488.1:c.115A>G, NM_001304489.1:c.115A>G, NM_001304490.1:c.115A>G, NM_001304486.1:c.115A>G, NR_130751.1:n.353A>G, NR_130752.1:n.265A>G, NM_001304491.1:c.115A>G, NP_036592.1:p.Arg39Gly, NP_001291414.1:p.Arg39Gly, NP_001291416.1:p.Arg39Gly, XP_047287220.1:p.Arg39Gly, NP_001291417.1:p.Arg39Gly, NP_001291418.1:p.Arg39Gly, NP_001291419.1:p.Arg39Gly, NP_001291415.1:p.Arg39Gly, NP_001291420.1:p.Arg39Gly

Select item 132249707010.

rs1322497070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:58410879 (GRCh38)
14:58877597 (GRCh37)
Canonical SPDI:: NC_000014.9:58410878:A:T
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58410879A>T, NC_000014.8:g.58877597A>T, NM_012460.4:c.99T>A, NM_012460.3:c.99T>A, NM_012460.2:c.99T>A, NR_130750.2:n.477T>A, NR_130750.1:n.560T>A, NM_001304485.2:c.99T>A, NM_001304485.1:c.99T>A, NM_001304487.2:c.99T>A, NM_001304487.1:c.99T>A, XM_047431264.1:c.99T>A, NM_001304488.1:c.99T>A, NM_001304489.1:c.99T>A, NM_001304490.1:c.99T>A, NM_001304486.1:c.99T>A, NR_130751.1:n.337T>A, NR_130752.1:n.249T>A, NM_001304491.1:c.99T>A

Select item 124628100511.

rs1246281005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58410937 (GRCh38)
14:58877655 (GRCh37)
Canonical SPDI:: NC_000014.9:58410936:A:G
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000014.9:g.58410937A>G, NC_000014.8:g.58877655A>G, NM_012460.4:c.41T>C, NM_012460.3:c.41T>C, NM_012460.2:c.41T>C, NR_130750.2:n.419T>C, NR_130750.1:n.502T>C, NM_001304485.2:c.41T>C, NM_001304485.1:c.41T>C, NM_001304487.2:c.41T>C, NM_001304487.1:c.41T>C, XM_047431264.1:c.41T>C, NM_001304488.1:c.41T>C, NM_001304489.1:c.41T>C, NM_001304490.1:c.41T>C, NM_001304486.1:c.41T>C, NR_130751.1:n.279T>C, NR_130752.1:n.191T>C, NM_001304491.1:c.41T>C, NP_036592.1:p.Phe14Ser, NP_001291414.1:p.Phe14Ser, NP_001291416.1:p.Phe14Ser, XP_047287220.1:p.Phe14Ser, NP_001291417.1:p.Phe14Ser, NP_001291418.1:p.Phe14Ser, NP_001291419.1:p.Phe14Ser, NP_001291415.1:p.Phe14Ser, NP_001291420.1:p.Phe14Ser

Select item 122740727712.

rs1227407277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:58409046 (GRCh38)
14:58875764 (GRCh37)
Canonical SPDI:: NC_000014.9:58409045:G:A
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.58409046G>A, NC_000014.8:g.58875764G>A, NM_012460.4:c.258C>T, NM_012460.3:c.258C>T, NM_012460.2:c.258C>T, NR_130750.2:n.636C>T, NR_130750.1:n.719C>T, NM_001304485.2:c.258C>T, NM_001304485.1:c.258C>T, NM_001304487.2:c.258C>T, NM_001304487.1:c.258C>T, XM_047431264.1:c.258C>T, NM_001304488.1:c.189C>T, NM_001304489.1:c.174C>T, NM_001304490.1:c.171C>T, NM_001304486.1:c.258C>T, NR_130751.1:n.409C>T, NR_130752.1:n.408C>T, NR_130753.1:n.400C>T, NM_001304491.1:c.171C>T

Select item 121809651813.

rs1218096518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:58409051 (GRCh38)
14:58875769 (GRCh37)
Canonical SPDI:: NC_000014.9:58409050:G:A
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58409051G>A, NC_000014.8:g.58875769G>A, NM_012460.4:c.253C>T, NM_012460.3:c.253C>T, NM_012460.2:c.253C>T, NR_130750.2:n.631C>T, NR_130750.1:n.714C>T, NM_001304485.2:c.253C>T, NM_001304485.1:c.253C>T, NM_001304487.2:c.253C>T, NM_001304487.1:c.253C>T, XM_047431264.1:c.253C>T, NM_001304488.1:c.184C>T, NM_001304489.1:c.169C>T, NM_001304490.1:c.166C>T, NM_001304486.1:c.253C>T, NR_130751.1:n.404C>T, NR_130752.1:n.403C>T, NR_130753.1:n.395C>T, NM_001304491.1:c.166C>T, NP_036592.1:p.Leu85Phe, NP_001291414.1:p.Leu85Phe, NP_001291416.1:p.Leu85Phe, XP_047287220.1:p.Leu85Phe, NP_001291417.1:p.Leu62Phe, NP_001291418.1:p.Leu57Phe, NP_001291419.1:p.Leu56Phe, NP_001291415.1:p.Leu85Phe, NP_001291420.1:p.Leu56Phe

Select item 117819957514.

rs1178199575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:58409079 (GRCh38)
14:58875797 (GRCh37)
Canonical SPDI:: NC_000014.9:58409078:A:T
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58409079A>T, NC_000014.8:g.58875797A>T, NM_012460.4:c.225T>A, NM_012460.3:c.225T>A, NM_012460.2:c.225T>A, NR_130750.2:n.603T>A, NR_130750.1:n.686T>A, NM_001304485.2:c.225T>A, NM_001304485.1:c.225T>A, NM_001304487.2:c.225T>A, NM_001304487.1:c.225T>A, XM_047431264.1:c.225T>A, NM_001304488.1:c.156T>A, NM_001304489.1:c.141T>A, NM_001304490.1:c.138T>A, NM_001304486.1:c.225T>A, NR_130751.1:n.376T>A, NR_130752.1:n.375T>A, NR_130753.1:n.367T>A, NM_001304491.1:c.138T>A, NP_036592.1:p.Asn75Lys, NP_001291414.1:p.Asn75Lys, NP_001291416.1:p.Asn75Lys, XP_047287220.1:p.Asn75Lys, NP_001291417.1:p.Asn52Lys, NP_001291418.1:p.Asn47Lys, NP_001291419.1:p.Asn46Lys, NP_001291415.1:p.Asn75Lys, NP_001291420.1:p.Asn46Lys

Select item 117740754515.

rs1177407545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:58410876 (GRCh38)
14:58877594 (GRCh37)
Canonical SPDI:: NC_000014.9:58410875:T:G
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58410876T>G, NC_000014.8:g.58877594T>G, NM_012460.4:c.102A>C, NM_012460.3:c.102A>C, NM_012460.2:c.102A>C, NR_130750.2:n.480A>C, NR_130750.1:n.563A>C, NM_001304485.2:c.102A>C, NM_001304485.1:c.102A>C, NM_001304487.2:c.102A>C, NM_001304487.1:c.102A>C, XM_047431264.1:c.102A>C, NM_001304488.1:c.102A>C, NM_001304489.1:c.102A>C, NM_001304490.1:c.102A>C, NM_001304486.1:c.102A>C, NR_130751.1:n.340A>C, NR_130752.1:n.252A>C, NM_001304491.1:c.102A>C, NP_036592.1:p.Lys34Asn, NP_001291414.1:p.Lys34Asn, NP_001291416.1:p.Lys34Asn, XP_047287220.1:p.Lys34Asn, NP_001291417.1:p.Lys34Asn, NP_001291418.1:p.Lys34Asn, NP_001291419.1:p.Lys34Asn, NP_001291415.1:p.Lys34Asn, NP_001291420.1:p.Lys34Asn

Select item 117609291316.

rs1176092913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58410891 (GRCh38)
14:58877609 (GRCh37)
Canonical SPDI:: NC_000014.9:58410890:A:G
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58410891A>G, NC_000014.8:g.58877609A>G, NM_012460.4:c.87T>C, NM_012460.3:c.87T>C, NM_012460.2:c.87T>C, NR_130750.2:n.465T>C, NR_130750.1:n.548T>C, NM_001304485.2:c.87T>C, NM_001304485.1:c.87T>C, NM_001304487.2:c.87T>C, NM_001304487.1:c.87T>C, XM_047431264.1:c.87T>C, NM_001304488.1:c.87T>C, NM_001304489.1:c.87T>C, NM_001304490.1:c.87T>C, NM_001304486.1:c.87T>C, NR_130751.1:n.325T>C, NR_130752.1:n.237T>C, NM_001304491.1:c.87T>C

Select item 104276734017.

rs1042767340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:58409073 (GRCh38)
14:58875791 (GRCh37)
Canonical SPDI:: NC_000014.9:58409072:G:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58409073G>C, NC_000014.8:g.58875791G>C, NM_012460.4:c.231C>G, NM_012460.3:c.231C>G, NM_012460.2:c.231C>G, NR_130750.2:n.609C>G, NR_130750.1:n.692C>G, NM_001304485.2:c.231C>G, NM_001304485.1:c.231C>G, NM_001304487.2:c.231C>G, NM_001304487.1:c.231C>G, XM_047431264.1:c.231C>G, NM_001304488.1:c.162C>G, NM_001304489.1:c.147C>G, NM_001304490.1:c.144C>G, NM_001304486.1:c.231C>G, NR_130751.1:n.382C>G, NR_130752.1:n.381C>G, NR_130753.1:n.373C>G, NM_001304491.1:c.144C>G

Select item 94694955418.

rs946949554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58409043 (GRCh38)
14:58875761 (GRCh37)
Canonical SPDI:: NC_000014.9:58409042:T:C
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000014.9:g.58409043T>C, NC_000014.8:g.58875761T>C, NM_012460.4:c.261A>G, NM_012460.3:c.261A>G, NM_012460.2:c.261A>G, NR_130750.2:n.639A>G, NR_130750.1:n.722A>G, NM_001304485.2:c.261A>G, NM_001304485.1:c.261A>G, NM_001304487.2:c.261A>G, NM_001304487.1:c.261A>G, XM_047431264.1:c.261A>G, NM_001304488.1:c.192A>G, NM_001304489.1:c.177A>G, NM_001304490.1:c.174A>G, NM_001304486.1:c.261A>G, NR_130751.1:n.412A>G, NR_130752.1:n.411A>G, NR_130753.1:n.403A>G, NM_001304491.1:c.174A>G

Select item 78036351319.

rs780363513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58411939 (GRCh38)
14:58878657 (GRCh37)
Canonical SPDI:: NC_000014.9:58411938:C:T
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/1 (ExAC)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58411939C>T, NC_000014.8:g.58878657C>T, NM_012460.4:c.7G>A, NM_012460.3:c.7G>A, NM_012460.2:c.7G>A, NM_001304485.2:c.7G>A, NM_001304485.1:c.7G>A, NM_001304487.2:c.7G>A, NM_001304487.1:c.7G>A, XM_047431264.1:c.7G>A, NM_001304488.1:c.7G>A, NM_001304489.1:c.7G>A, NM_001304490.1:c.7G>A, NM_001304486.1:c.7G>A, NM_001304491.1:c.7G>A, NP_036592.1:p.Ala3Thr, NP_001291414.1:p.Ala3Thr, NP_001291416.1:p.Ala3Thr, XP_047287220.1:p.Ala3Thr, NP_001291417.1:p.Ala3Thr, NP_001291418.1:p.Ala3Thr, NP_001291419.1:p.Ala3Thr, NP_001291415.1:p.Ala3Thr, NP_001291420.1:p.Ala3Thr

Select item 77962197620.

rs779621976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:58410861 (GRCh38)
14:58877579 (GRCh37)
Canonical SPDI:: NC_000014.9:58410860:T:G
Gene:: TIMM9 (Varview), TOMM20L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000008/1 (ExAC)
HGVS:: NC_000014.9:g.58410861T>G, NC_000014.8:g.58877579T>G, NM_012460.4:c.117A>C, NM_012460.3:c.117A>C, NM_012460.2:c.117A>C, NR_130750.2:n.495A>C, NR_130750.1:n.578A>C, NM_001304485.2:c.117A>C, NM_001304485.1:c.117A>C, NM_001304487.2:c.117A>C, NM_001304487.1:c.117A>C, XM_047431264.1:c.117A>C, NM_001304488.1:c.117A>C, NM_001304489.1:c.117A>C, NM_001304490.1:c.117A>C, NM_001304486.1:c.117A>C, NR_130751.1:n.355A>C, NR_130752.1:n.267A>C, NM_001304491.1:c.117A>C, NP_036592.1:p.Arg39Ser, NP_001291414.1:p.Arg39Ser, NP_001291416.1:p.Arg39Ser, XP_047287220.1:p.Arg39Ser, NP_001291417.1:p.Arg39Ser, NP_001291418.1:p.Arg39Ser, NP_001291419.1:p.Arg39Ser, NP_001291415.1:p.Arg39Ser, NP_001291420.1:p.Arg39Ser

dbSNP

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