SNP Links for Protein (Select 6681764) - SNP

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Links from Protein

Items: 1 to 20 of 389

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Select item 14909166631.

rs1490916663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:4682282 (GRCh38)
12:4791448 (GRCh37)
Canonical SPDI:: NC_000012.12:4682281:T:G
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4682282T>G, NC_000012.11:g.4791448T>G, NG_032124.1:g.38185T>G, NM_005002.4:c.878T>G, NM_005002.5:c.878T>G, NP_004993.1:p.Leu293Trp

Select item 14904256042.

rs1490425604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4685272 (GRCh38)
12:4794438 (GRCh37)
Canonical SPDI:: NC_000012.12:4685271:G:A
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.4685272G>A, NC_000012.11:g.4794438G>A, NG_032124.1:g.41175G>A, NM_005002.4:c.910G>A, NM_005002.5:c.910G>A, NP_004993.1:p.Val304Ile

Select item 14898899143.

rs1489889914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:4657761 (GRCh38)
12:4766927 (GRCh37)
Canonical SPDI:: NC_000012.12:4657760:G:C
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.4657761G>C, NC_000012.11:g.4766927G>C, NG_032124.1:g.13664G>C, NM_005002.4:c.332G>C, NM_005002.5:c.332G>C, NP_004993.1:p.Arg111Thr

Select item 14753122024.

rs1475312202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:4668495 (GRCh38)
12:4777661 (GRCh37)
Canonical SPDI:: NC_000012.12:4668494:G:C
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.4668495G>C, NC_000012.11:g.4777661G>C, NG_032124.1:g.24398G>C, NM_005002.4:c.694G>C, NM_005002.5:c.694G>C, NP_004993.1:p.Gly232Arg

Select item 14739845305.

rs1473984530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTA [Show Flanks]
Chromosome:: 12:4657795 (GRCh38)
12:4766962 (GRCh37)
Canonical SPDI:: NC_000012.12:4657795:A:ATGTA
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,stop_gained
Validated:: by frequency
MAF:: ATGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4657796_4657797insTGTA, NC_000012.11:g.4766962_4766963insTGTA, NG_032124.1:g.13699_13700insTGTA, NM_005002.4:c.367_368insTGTA, NM_005002.5:c.367_368insTGTA, NP_004993.1:p.Ser123delinsMetTer

Select item 14689326506.

rs1468932650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4649175 (GRCh38)
12:4758341 (GRCh37)
Canonical SPDI:: NC_000012.12:4649174:C:T
Gene:: NDUFA9 (Varview), AKAP3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.4649175C>T, NC_000012.11:g.4758341C>T, NG_032124.1:g.5078C>T, NM_005002.4:c.49C>T, NM_005002.5:c.49C>T, NP_004993.1:p.Arg17Cys

Select item 14679853367.

rs1467985336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4654309 (GRCh38)
12:4763475 (GRCh37)
Canonical SPDI:: NC_000012.12:4654308:A:G
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.4654309A>G, NC_000012.11:g.4763475A>G, NG_032124.1:g.10212A>G, NM_005002.4:c.67A>G, NM_005002.5:c.67A>G, NP_004993.1:p.Ile23Val

Select item 14647266508.

rs1464726650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4669763 (GRCh38)
12:4778929 (GRCh37)
Canonical SPDI:: NC_000012.12:4669762:T:C
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4669763T>C, NC_000012.11:g.4778929T>C, NG_032124.1:g.25666T>C, NM_005002.4:c.746T>C, NM_005002.5:c.746T>C, NP_004993.1:p.Ile249Thr

Select item 14626849079.

rs1462684907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:4654337 (GRCh38)
12:4763503 (GRCh37)
Canonical SPDI:: NC_000012.12:4654336:C:G,NC_000012.12:4654336:C:T
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.4654337C>G, NC_000012.12:g.4654337C>T, NC_000012.11:g.4763503C>G, NC_000012.11:g.4763503C>T, NG_032124.1:g.10240C>G, NG_032124.1:g.10240C>T, NM_005002.4:c.95C>G, NM_005002.4:c.95C>T, NM_005002.5:c.95C>G, NM_005002.5:c.95C>T, NP_004993.1:p.Pro32Arg, NP_004993.1:p.Pro32Leu

Select item 145949091110.

rs1459490911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:4654899 (GRCh38)
12:4764065 (GRCh37)
Canonical SPDI:: NC_000012.12:4654898:G:T
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4654899G>T, NC_000012.11:g.4764065G>T, NG_032124.1:g.10802G>T, NM_005002.4:c.295G>T, NM_005002.5:c.295G>T, NP_004993.1:p.Asp99Tyr

Select item 145820175311.

rs1458201753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4659109 (GRCh38)
12:4768275 (GRCh37)
Canonical SPDI:: NC_000012.12:4659108:G:A
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4659109G>A, NC_000012.11:g.4768275G>A, NG_032124.1:g.15012G>A, NM_005002.4:c.484G>A, NM_005002.5:c.484G>A, NP_004993.1:p.Glu162Lys

Select item 145806468712.

rs1458064687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:4669743 (GRCh38)
12:4778909 (GRCh37)
Canonical SPDI:: NC_000012.12:4669742:C:A,NC_000012.12:4669742:C:T
Gene:: NDUFA9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00109/2 (Korea1K)
HGVS:: NC_000012.12:g.4669743C>A, NC_000012.12:g.4669743C>T, NC_000012.11:g.4778909C>A, NC_000012.11:g.4778909C>T, NG_032124.1:g.25646C>A, NG_032124.1:g.25646C>T, NM_005002.4:c.726C>A, NM_005002.4:c.726C>T, NM_005002.5:c.726C>A, NM_005002.5:c.726C>T

Select item 145626666913.

rs1456266669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4662542 (GRCh38)
12:4771708 (GRCh37)
Canonical SPDI:: NC_000012.12:4662541:G:A
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4662542G>A, NC_000012.11:g.4771708G>A, NG_032124.1:g.18445G>A, NM_005002.4:c.562G>A, NM_005002.5:c.562G>A, NP_004993.1:p.Glu188Lys

Select item 145495583114.

rs1454955831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4662566 (GRCh38)
12:4771732 (GRCh37)
Canonical SPDI:: NC_000012.12:4662565:C:T
Gene:: NDUFA9 (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_000012.12:g.4662566C>T, NC_000012.11:g.4771732C>T, NG_032124.1:g.18469C>T, NM_005002.4:c.586C>T, NM_005002.5:c.586C>T, NP_004993.1:p.Pro196Ser

Select item 145461217215.

rs1454612172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4669789 (GRCh38)
12:4778955 (GRCh37)
Canonical SPDI:: NC_000012.12:4669788:G:A
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4669789G>A, NC_000012.11:g.4778955G>A, NG_032124.1:g.25692G>A, NM_005002.4:c.772G>A, NM_005002.5:c.772G>A, NP_004993.1:p.Ala258Thr

Select item 145360451416.

rs1453604514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:4659122 (GRCh38)
12:4768288 (GRCh37)
Canonical SPDI:: NC_000012.12:4659121:A:G,NC_000012.12:4659121:A:T
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.4659122A>G, NC_000012.12:g.4659122A>T, NC_000012.11:g.4768288A>G, NC_000012.11:g.4768288A>T, NG_032124.1:g.15025A>G, NG_032124.1:g.15025A>T, NM_005002.4:c.497A>G, NM_005002.4:c.497A>T, NM_005002.5:c.497A>G, NM_005002.5:c.497A>T, NP_004993.1:p.His166Arg, NP_004993.1:p.His166Leu

Select item 145242904117.

rs1452429041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCT [Show Flanks]
Chromosome:: 12:4659153 (GRCh38)
12:4768320 (GRCh37)
Canonical SPDI:: NC_000012.12:4659153:TCTTCT:TCTTCTTCT
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000012.12:g.4659154TCT[3], NC_000012.11:g.4768320TCT[3], NG_032124.1:g.15057TCT[3], NM_005002.4:c.529TCT[3], NM_005002.5:c.529TCT[3], NP_004993.1:p.Ser178dup

Select item 145210614618.

rs1452106146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:4662537 (GRCh38)
12:4771703 (GRCh37)
Canonical SPDI:: NC_000012.12:4662536:T:A,NC_000012.12:4662536:T:C
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.4662537T>A, NC_000012.12:g.4662537T>C, NC_000012.11:g.4771703T>A, NC_000012.11:g.4771703T>C, NG_032124.1:g.18440T>A, NG_032124.1:g.18440T>C, NM_005002.4:c.557T>A, NM_005002.4:c.557T>C, NM_005002.5:c.557T>A, NM_005002.5:c.557T>C, NP_004993.1:p.Val186Asp, NP_004993.1:p.Val186Ala

Select item 145028533419.

rs1450285334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4662622 (GRCh38)
12:4771788 (GRCh37)
Canonical SPDI:: NC_000012.12:4662621:T:C
Gene:: NDUFA9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.4662622T>C, NC_000012.11:g.4771788T>C, NG_032124.1:g.18525T>C, NM_005002.4:c.642T>C, NM_005002.5:c.642T>C

Select item 144208088820.

rs1442080888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4654830 (GRCh38)
12:4763996 (GRCh37)
Canonical SPDI:: NC_000012.12:4654829:A:G
Gene:: NDUFA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4654830A>G, NC_000012.11:g.4763996A>G, NG_032124.1:g.10733A>G, NM_005002.4:c.226A>G, NM_005002.5:c.226A>G, NP_004993.1:p.Met76Val

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