SNP Links for Protein (Select 970598260) - SNP

Links from Protein

Items: 1 to 20 of 112

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Select item 14797695571.

rs1479769557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:122148122 (GRCh38)
9:124910401 (GRCh37)
Canonical SPDI:: NC_000009.12:122148121:T:A
Gene:: NDUFA8 (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_000009.12:g.122148122T>A, NC_000009.11:g.124910401T>A, NG_042279.2:g.16698A>T, NM_014222.3:c.371A>T, NM_014222.2:c.371A>T, NM_001318195.2:c.371A>T, NM_001318195.1:c.371A>T, NP_055037.1:p.Glu124Val, NP_001305124.1:p.Glu124Val

Select item 14556421502.

rs1455642150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122159668 (GRCh38)
9:124921947 (GRCh37)
Canonical SPDI:: NC_000009.12:122159667:T:C
Gene:: NDUFA8 (Varview), MORN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.122159668T>C, NC_000009.11:g.124921947T>C, NG_042279.2:g.5152A>G, NM_014222.3:c.10A>G, NM_014222.2:c.10A>G, NM_001318195.2:c.10A>G, NM_001318195.1:c.10A>G, NG_063121.1:g.79T>C, NP_055037.1:p.Ile4Val, NP_001305124.1:p.Ile4Val

Select item 14548200743.

rs1454820074 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATAACT [Show Flanks]
Chromosome:: 9:122148201 (GRCh38)
9:124910481 (GRCh37)
Canonical SPDI:: NC_000009.12:122148201:AAATAACT:AAATAACTAAATAACT
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAATAACTAAATAACT=0./0 (ALFA)
AAATAACT=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.122148202_122148209dup, NC_000009.11:g.124910481_124910488dup, NG_042279.2:g.16611_16618dup, NM_014222.3:c.284_291dup, NM_014222.2:c.284_291dup, NM_001318195.2:c.284_291dup, NM_001318195.1:c.284_291dup, NP_055037.1:p.Arg98fs, NP_001305124.1:p.Arg98fs

Select item 14536641144.

rs1453664114 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:122152401 (GRCh38)
9:124914681 (GRCh37)
Canonical SPDI:: NC_000009.12:122152401:TTTT:TTTTT
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122152405dup, NC_000009.11:g.124914684dup, NG_042279.2:g.12418dup, NM_014222.3:c.58dup, NM_014222.2:c.58dup, NM_001318195.2:c.58dup, NM_001318195.1:c.58dup, NP_055037.1:p.Ile20fs, NP_001305124.1:p.Ile20fs

Select item 14356144335.

rs1435614433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122159657 (GRCh38)
9:124921936 (GRCh37)
Canonical SPDI:: NC_000009.12:122159656:C:T
Gene:: NDUFA8 (Varview), MORN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.122159657C>T, NC_000009.11:g.124921936C>T, NG_042279.2:g.5163G>A, NM_014222.3:c.21G>A, NM_014222.2:c.21G>A, NM_001318195.2:c.21G>A, NM_001318195.1:c.21G>A, NG_063121.1:g.68C>T

Select item 14285775916.

rs1428577591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122148236 (GRCh38)
9:124910515 (GRCh37)
Canonical SPDI:: NC_000009.12:122148235:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.122148236C>T, NC_000009.11:g.124910515C>T, NG_042279.2:g.16584G>A, NM_014222.3:c.257G>A, NM_014222.2:c.257G>A, NM_001318195.2:c.257G>A, NM_001318195.1:c.257G>A, NP_055037.1:p.Trp86Ter, NP_001305124.1:p.Trp86Ter

Select item 14272469657.

rs1427246965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122152363 (GRCh38)
9:124914642 (GRCh37)
Canonical SPDI:: NC_000009.12:122152362:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122152363C>T, NC_000009.11:g.124914642C>T, NG_042279.2:g.12457G>A, NM_014222.3:c.97G>A, NM_014222.2:c.97G>A, NM_001318195.2:c.97G>A, NM_001318195.1:c.97G>A, NP_055037.1:p.Gly33Arg, NP_001305124.1:p.Gly33Arg

Select item 14236795308.

rs1423679530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122152286 (GRCh38)
9:124914565 (GRCh37)
Canonical SPDI:: NC_000009.12:122152285:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.122152286C>T, NC_000009.11:g.124914565C>T, NG_042279.2:g.12534G>A, NM_014222.3:c.174G>A, NM_014222.2:c.174G>A, NM_001318195.2:c.174G>A, NM_001318195.1:c.174G>A

Select item 14227038329.

rs1422703832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122159644 (GRCh38)
9:124921923 (GRCh37)
Canonical SPDI:: NC_000009.12:122159643:C:T
Gene:: NDUFA8 (Varview), MORN5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122159644C>T, NC_000009.11:g.124921923C>T, NG_042279.2:g.5176G>A, NM_014222.3:c.34G>A, NM_014222.2:c.34G>A, NM_001318195.2:c.34G>A, NM_001318195.1:c.34G>A, NG_063121.1:g.55C>T, NP_055037.1:p.Glu12Lys, NP_001305124.1:p.Glu12Lys

Select item 142229892410.

rs1422298924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122148136 (GRCh38)
9:124910415 (GRCh37)
Canonical SPDI:: NC_000009.12:122148135:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.122148136C>T, NC_000009.11:g.124910415C>T, NG_042279.2:g.16684G>A, NM_014222.3:c.357G>A, NM_014222.2:c.357G>A, NM_001318195.2:c.357G>A, NM_001318195.1:c.357G>A

Select item 141658957311.

rs1416589573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:122152287 (GRCh38)
9:124914566 (GRCh37)
Canonical SPDI:: NC_000009.12:122152286:T:A
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122152287T>A, NC_000009.11:g.124914566T>A, NG_042279.2:g.12533A>T, NM_014222.3:c.173A>T, NM_014222.2:c.173A>T, NM_001318195.2:c.173A>T, NM_001318195.1:c.173A>T, NP_055037.1:p.Glu58Val, NP_001305124.1:p.Glu58Val

Select item 140750249312.

rs1407502493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:122152299 (GRCh38)
9:124914578 (GRCh37)
Canonical SPDI:: NC_000009.12:122152298:C:G
Gene:: NDUFA8 (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=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.122152299C>G, NC_000009.11:g.124914578C>G, NG_042279.2:g.12521G>C, NM_014222.3:c.161G>C, NM_014222.2:c.161G>C, NM_001318195.2:c.161G>C, NM_001318195.1:c.161G>C, NP_055037.1:p.Arg54Thr, NP_001305124.1:p.Arg54Thr

Select item 140273381213.

rs1402733812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:122148129 (GRCh38)
9:124910408 (GRCh37)
Canonical SPDI:: NC_000009.12:122148128:G:C,NC_000009.12:122148128:G:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.122148129G>C, NC_000009.12:g.122148129G>T, NC_000009.11:g.124910408G>C, NC_000009.11:g.124910408G>T, NG_042279.2:g.16691C>G, NG_042279.2:g.16691C>A, NM_014222.3:c.364C>G, NM_014222.3:c.364C>A, NM_014222.2:c.364C>G, NM_014222.2:c.364C>A, NM_001318195.2:c.364C>G, NM_001318195.2:c.364C>A, NM_001318195.1:c.364C>G, NM_001318195.1:c.364C>A, NP_055037.1:p.Leu122Val, NP_055037.1:p.Leu122Met, NP_001305124.1:p.Leu122Val, NP_001305124.1:p.Leu122Met

Select item 140128181414.

rs1401281814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122159662 (GRCh38)
9:124921941 (GRCh37)
Canonical SPDI:: NC_000009.12:122159661:C:T
Gene:: NDUFA8 (Varview), MORN5 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122159662C>T, NC_000009.11:g.124921941C>T, NG_042279.2:g.5158G>A, NM_014222.3:c.16G>A, NM_014222.2:c.16G>A, NM_001318195.2:c.16G>A, NM_001318195.1:c.16G>A, NG_063121.1:g.73C>T, NP_055037.1:p.Glu6Lys, NP_001305124.1:p.Glu6Lys

Select item 138205523115.

rs1382055231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122148181 (GRCh38)
9:124910460 (GRCh37)
Canonical SPDI:: NC_000009.12:122148180:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122148181C>T, NC_000009.11:g.124910460C>T, NG_042279.2:g.16639G>A, NM_014222.3:c.312G>A, NM_014222.2:c.312G>A, NM_001318195.2:c.312G>A, NM_001318195.1:c.312G>A

Select item 137622392616.

rs1376223926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:122152343 (GRCh38)
9:124914622 (GRCh37)
Canonical SPDI:: NC_000009.12:122152342:G:A
Gene:: NDUFA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122152343G>A, NC_000009.11:g.124914622G>A, NG_042279.2:g.12477C>T, NM_014222.3:c.117C>T, NM_014222.2:c.117C>T, NM_001318195.2:c.117C>T, NM_001318195.1:c.117C>T

Select item 136983084217.

rs1369830842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122159653 (GRCh38)
9:124921932 (GRCh37)
Canonical SPDI:: NC_000009.12:122159652:T:C
Gene:: NDUFA8 (Varview), MORN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122159653T>C, NC_000009.11:g.124921932T>C, NG_042279.2:g.5167A>G, NM_014222.3:c.25A>G, NM_014222.2:c.25A>G, NM_001318195.2:c.25A>G, NM_001318195.1:c.25A>G, NG_063121.1:g.64T>C, NP_055037.1:p.Thr9Ala, NP_001305124.1:p.Thr9Ala

Select item 136504297018.

rs1365042970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:122148162 (GRCh38)
9:124910441 (GRCh37)
Canonical SPDI:: NC_000009.12:122148161:C:G
Gene:: NDUFA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122148162C>G, NC_000009.11:g.124910441C>G, NG_042279.2:g.16658G>C, NM_014222.3:c.331G>C, NM_014222.2:c.331G>C, NM_001318195.2:c.331G>C, NM_001318195.1:c.331G>C, NP_055037.1:p.Val111Leu, NP_001305124.1:p.Val111Leu

Select item 135671944719.

rs1356719447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:122148218 (GRCh38)
9:124910497 (GRCh37)
Canonical SPDI:: NC_000009.12:122148217:G:A
Gene:: NDUFA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.122148218G>A, NC_000009.11:g.124910497G>A, NG_042279.2:g.16602C>T, NM_014222.3:c.275C>T, NM_014222.2:c.275C>T, NM_001318195.2:c.275C>T, NM_001318195.1:c.275C>T, NP_055037.1:p.Thr92Ile, NP_001305124.1:p.Thr92Ile

Select item 134688300820.

rs1346883008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122152320 (GRCh38)
9:124914599 (GRCh37)
Canonical SPDI:: NC_000009.12:122152319:C:T
Gene:: NDUFA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000009.12:g.122152320C>T, NC_000009.11:g.124914599C>T, NG_042279.2:g.12500G>A, NM_014222.3:c.140G>A, NM_014222.2:c.140G>A, NM_001318195.2:c.140G>A, NM_001318195.1:c.140G>A, NP_055037.1:p.Arg47His, NP_001305124.1:p.Arg47His

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