SNP Links for Protein (Select 385275076) - SNP

Links from Protein

Items: 1 to 20 of 82

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Select item 14832009581.

rs1483200958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95002760 (GRCh38)
12:95396536 (GRCh37)
Canonical SPDI:: NC_000012.12:95002759:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.95002760C>T, NC_000012.11:g.95396536C>T, NG_032672.1:g.5954G>A, NM_018838.5:c.148G>A, NM_018838.4:c.148G>A, NM_001258338.2:c.148G>A, NM_001258338.1:c.148G>A, NP_061326.1:p.Glu50Lys, NP_001245267.1:p.Glu50Lys

Select item 14623396132.

rs1462339613 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTTT [Show Flanks]
Chromosome:: 12:95002768 (GRCh38)
12:95396544 (GRCh37)
Canonical SPDI:: NC_000012.12:95002766:TTT:T,NC_000012.12:95002766:TTT:TTTTTT
Gene:: NDUFA12 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95002768_95002769del, NC_000012.12:g.95002767_95002769dup, NC_000012.11:g.95396544_95396545del, NC_000012.11:g.95396543_95396545dup, NG_032672.1:g.5946_5947del, NG_032672.1:g.5945_5947dup, NM_018838.5:c.140_141del, NM_018838.5:c.139_141dup, NM_018838.4:c.140_141del, NM_018838.4:c.139_141dup, NM_001258338.2:c.140_141del, NM_001258338.2:c.139_141dup, NM_001258338.1:c.140_141del, NM_001258338.1:c.139_141dup, NP_061326.1:p.Lys47fs, NP_061326.1:p.Lys47dup, NP_001245267.1:p.Lys47fs, NP_001245267.1:p.Lys47dup

Select item 14394396813.

rs1439439681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:95002787 (GRCh38)
12:95396563 (GRCh37)
Canonical SPDI:: NC_000012.12:95002786:C:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95002787C>A, NC_000012.11:g.95396563C>A, NG_032672.1:g.5927G>T, NM_018838.5:c.121G>T, NM_018838.4:c.121G>T, NM_001258338.2:c.121G>T, NM_001258338.1:c.121G>T, NP_061326.1:p.Glu41Ter, NP_001245267.1:p.Glu41Ter

Select item 14340491374.

rs1434049137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95003613 (GRCh38)
12:95397389 (GRCh37)
Canonical SPDI:: NC_000012.12:95003612:T:C
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95003613T>C, NC_000012.11:g.95397389T>C, NG_032672.1:g.5101A>G, NM_018838.5:c.68A>G, NM_018838.4:c.68A>G, NM_001258338.2:c.68A>G, NM_001258338.1:c.68A>G, NP_061326.1:p.Tyr23Cys, NP_001245267.1:p.Tyr23Cys

Select item 14334640465.

rs1433464046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95002821 (GRCh38)
12:95396597 (GRCh37)
Canonical SPDI:: NC_000012.12:95002820:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95002821C>T, NC_000012.11:g.95396597C>T, NG_032672.1:g.5893G>A, NM_018838.5:c.87G>A, NM_018838.4:c.87G>A, NM_001258338.2:c.87G>A, NM_001258338.1:c.87G>A

Select item 14276699356.

rs1427669935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95003664 (GRCh38)
12:95397440 (GRCh37)
Canonical SPDI:: NC_000012.12:95003663:A:G
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95003664A>G, NC_000012.11:g.95397440A>G, NG_032672.1:g.5050T>C, NM_018838.5:c.17T>C, NM_018838.4:c.17T>C, NM_001258338.2:c.17T>C, NM_001258338.1:c.17T>C, NP_061326.1:p.Val6Ala, NP_001245267.1:p.Val6Ala

Select item 14264854867.

rs1426485486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95002780 (GRCh38)
12:95396556 (GRCh37)
Canonical SPDI:: NC_000012.12:95002779:T:C
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95002780T>C, NC_000012.11:g.95396556T>C, NG_032672.1:g.5934A>G, NM_018838.5:c.128A>G, NM_018838.4:c.128A>G, NM_001258338.2:c.128A>G, NM_001258338.1:c.128A>G, NP_061326.1:p.Lys43Arg, NP_001245267.1:p.Lys43Arg

Select item 14112373968.

rs1411237396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:95003677 (GRCh38)
12:95397453 (GRCh37)
Canonical SPDI:: NC_000012.12:95003676:C:A,NC_000012.12:95003676:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: pathogenic-likely-pathogenic
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95003677C>A, NC_000012.12:g.95003677C>T, NC_000012.11:g.95397453C>A, NC_000012.11:g.95397453C>T, NG_032672.1:g.5037G>T, NG_032672.1:g.5037G>A, NM_018838.5:c.4G>T, NM_018838.5:c.4G>A, NM_018838.4:c.4G>T, NM_018838.4:c.4G>A, NM_001258338.2:c.4G>T, NM_001258338.2:c.4G>A, NM_001258338.1:c.4G>T, NM_001258338.1:c.4G>A, NP_061326.1:p.Glu2Ter, NP_061326.1:p.Glu2Lys, NP_001245267.1:p.Glu2Ter, NP_001245267.1:p.Glu2Lys

Select item 13939382929.

rs1393938292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:95003671 (GRCh38)
12:95397447 (GRCh37)
Canonical SPDI:: NC_000012.12:95003670:C:A,NC_000012.12:95003670:C:G,NC_000012.12:95003670:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.95003671C>A, NC_000012.12:g.95003671C>G, NC_000012.12:g.95003671C>T, NC_000012.11:g.95397447C>A, NC_000012.11:g.95397447C>G, NC_000012.11:g.95397447C>T, NG_032672.1:g.5043G>T, NG_032672.1:g.5043G>C, NG_032672.1:g.5043G>A, NM_018838.5:c.10G>T, NM_018838.5:c.10G>C, NM_018838.5:c.10G>A, NM_018838.4:c.10G>T, NM_018838.4:c.10G>C, NM_018838.4:c.10G>A, NM_001258338.2:c.10G>T, NM_001258338.2:c.10G>C, NM_001258338.2:c.10G>A, NM_001258338.1:c.10G>T, NM_001258338.1:c.10G>C, NM_001258338.1:c.10G>A, NP_061326.1:p.Val4Leu, NP_061326.1:p.Val4Leu, NP_061326.1:p.Val4Met, NP_001245267.1:p.Val4Leu, NP_001245267.1:p.Val4Leu, NP_001245267.1:p.Val4Met

Select item 139052681910.

rs1390526819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95002798 (GRCh38)
12:95396574 (GRCh37)
Canonical SPDI:: NC_000012.12:95002797:G:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95002798G>A, NC_000012.11:g.95396574G>A, NG_032672.1:g.5916C>T, NM_018838.5:c.110C>T, NM_018838.4:c.110C>T, NM_001258338.2:c.110C>T, NM_001258338.1:c.110C>T, NP_061326.1:p.Thr37Ile, NP_001245267.1:p.Thr37Ile

Select item 138705604411.

rs1387056044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95003630 (GRCh38)
12:95397406 (GRCh37)
Canonical SPDI:: NC_000012.12:95003629:G:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95003630G>A, NC_000012.11:g.95397406G>A, NG_032672.1:g.5084C>T, NM_018838.5:c.51C>T, NM_018838.4:c.51C>T, NM_001258338.2:c.51C>T, NM_001258338.1:c.51C>T

Select item 138451604212.

rs1384516042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:94971616 (GRCh38)
12:95365392 (GRCh37)
Canonical SPDI:: NC_000012.12:94971615:G:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.94971616G>A, NC_000012.11:g.95365392G>A, NG_032672.1:g.37098C>T, NM_018838.5:c.262C>T, NM_018838.4:c.262C>T, NM_001258338.2:c.174C>T, NM_001258338.1:c.174C>T, NP_061326.1:p.Arg88Cys

Select item 133787139013.

rs1337871390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:95002755 (GRCh38)
12:95396531 (GRCh37)
Canonical SPDI:: NC_000012.12:95002754:G:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95002755G>T, NC_000012.11:g.95396531G>T, NG_032672.1:g.5959C>A, NM_018838.5:c.153C>A, NM_018838.4:c.153C>A, NM_001258338.2:c.153C>A, NM_001258338.1:c.153C>A, NP_061326.1:p.Asp51Glu, NP_001245267.1:p.Asp51Glu

Select item 131996911314.

rs1319969113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:94971610 (GRCh38)
12:95365386 (GRCh37)
Canonical SPDI:: NC_000012.12:94971609:G:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_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_000012.12:g.94971610G>A, NC_000012.11:g.95365386G>A, NG_032672.1:g.37104C>T, NM_018838.5:c.268C>T, NM_018838.4:c.268C>T, NM_001258338.2:c.180C>T, NM_001258338.1:c.180C>T, NP_061326.1:p.Leu90Phe

Select item 130315884215.

rs1303158842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:95002773 (GRCh38)
12:95396549 (GRCh37)
Canonical SPDI:: NC_000012.12:95002772:T:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.95002773T>A, NC_000012.11:g.95396549T>A, NG_032672.1:g.5941A>T, NM_018838.5:c.135A>T, NM_018838.4:c.135A>T, NM_001258338.2:c.135A>T, NM_001258338.1:c.135A>T

Select item 129675777616.

rs1296757776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:95003665 (GRCh38)
12:95397441 (GRCh37)
Canonical SPDI:: NC_000012.12:95003664:C:A,NC_000012.12:95003664:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95003665C>A, NC_000012.12:g.95003665C>T, NC_000012.11:g.95397441C>A, NC_000012.11:g.95397441C>T, NG_032672.1:g.5049G>T, NG_032672.1:g.5049G>A, NM_018838.5:c.16G>T, NM_018838.5:c.16G>A, NM_018838.4:c.16G>T, NM_018838.4:c.16G>A, NM_001258338.2:c.16G>T, NM_001258338.2:c.16G>A, NM_001258338.1:c.16G>T, NM_001258338.1:c.16G>A, NP_061326.1:p.Val6Phe, NP_061326.1:p.Val6Ile, NP_001245267.1:p.Val6Phe, NP_001245267.1:p.Val6Ile

Select item 125970565517.

rs1259705655 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:95003598 (GRCh38)
12:95397374 (GRCh37)
Canonical SPDI:: NC_000012.12:95003597:AAAAAAA:AAAAAA,NC_000012.12:95003597:AAAAAAA:AAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.95003604del, NC_000012.12:g.95003604dup, NC_000012.11:g.95397380del, NC_000012.11:g.95397380dup, NG_032672.1:g.5116del, NG_032672.1:g.5116dup, NM_018838.5:c.83del, NM_018838.5:c.83dup, NM_018838.4:c.83del, NM_018838.4:c.83dup, NM_001258338.2:c.83del, NM_001258338.2:c.83dup, NM_001258338.1:c.83del, NM_001258338.1:c.83dup, NP_061326.1:p.Phe28fs, NP_061326.1:p.Arg29fs, NP_001245267.1:p.Phe28fs, NP_001245267.1:p.Arg29fs

Select item 125485024118.

rs1254850241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:95002764 (GRCh38)
12:95396540 (GRCh37)
Canonical SPDI:: NC_000012.12:95002763:G:C
Gene:: NDUFA12 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95002764G>C, NC_000012.11:g.95396540G>C, NG_032672.1:g.5950C>G, NM_018838.5:c.144C>G, NM_018838.4:c.144C>G, NM_001258338.2:c.144C>G, NM_001258338.1:c.144C>G, NP_061326.1:p.Tyr48Ter, NP_001245267.1:p.Tyr48Ter

Select item 125180522319.

rs1251805223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95003625 (GRCh38)
12:95397401 (GRCh37)
Canonical SPDI:: NC_000012.12:95003624:C:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95003625C>T, NC_000012.11:g.95397401C>T, NG_032672.1:g.5089G>A, NM_018838.5:c.56G>A, NM_018838.4:c.56G>A, NM_001258338.2:c.56G>A, NM_001258338.1:c.56G>A, NP_061326.1:p.Gly19Asp, NP_001245267.1:p.Gly19Asp

Select item 122971568020.

rs1229715680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:95003636 (GRCh38)
12:95397412 (GRCh37)
Canonical SPDI:: NC_000012.12:95003635:G:A,NC_000012.12:95003635:G:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95003636G>A, NC_000012.12:g.95003636G>T, NC_000012.11:g.95397412G>A, NC_000012.11:g.95397412G>T, NG_032672.1:g.5078C>T, NG_032672.1:g.5078C>A, NM_018838.5:c.45C>T, NM_018838.5:c.45C>A, NM_018838.4:c.45C>T, NM_018838.4:c.45C>A, NM_001258338.2:c.45C>T, NM_001258338.2:c.45C>A, NM_001258338.1:c.45C>T, NM_001258338.1:c.45C>A

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