SNP Links for Protein (Select 4758784) - SNP

Links from Protein

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Select item 14888779011.

rs1488877901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:78079659 (GRCh38)
11:77790705 (GRCh37)
Canonical SPDI:: NC_000011.10:78079658:C:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.78079659C>A, NC_000011.9:g.77790705C>A, NM_004549.6:c.86G>T, NM_004549.5:c.86G>T, NM_001204054.3:c.86G>T, NM_001204054.2:c.86G>T, NM_001204054.1:c.86G>T, NM_001204055.2:c.86G>T, NM_001204055.1:c.86G>T, NM_001203260.2:c.86G>T, NM_001203260.1:c.86G>T, NM_001203261.2:c.86G>T, NM_001203261.1:c.86G>T, NM_001203262.2:c.86G>T, NM_001203262.1:c.86G>T, NP_004540.1:p.Arg29Leu, NP_001190983.1:p.Arg29Leu, NP_001190984.1:p.Arg29Leu, NP_001190189.1:p.Arg29Leu, NP_001190190.1:p.Arg29Leu, NP_001190191.1:p.Arg29Leu

Select item 14760948002.

rs1476094800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:78073095 (GRCh38)
11:77784141 (GRCh37)
Canonical SPDI:: NC_000011.10:78073094:T:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/5 (ALFA)
A=0.0009/4 (Estonian)
HGVS:: NC_000011.10:g.78073095T>A, NC_000011.9:g.77784141T>A, NM_004549.6:c.213A>T, NM_004549.5:c.213A>T, NM_001204054.3:c.213A>T, NM_001204054.2:c.213A>T, NM_001204054.1:c.213A>T, NM_001203260.2:c.213A>T, NM_001203260.1:c.213A>T, NM_001203261.2:c.213A>T, NM_001203261.1:c.213A>T

Select item 14709617313.

rs1470961731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78073083 (GRCh38)
11:77784129 (GRCh37)
Canonical SPDI:: NC_000011.10:78073082:T:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.78073083T>C, NC_000011.9:g.77784129T>C, NM_004549.6:c.225A>G, NM_004549.5:c.225A>G, NM_001204054.3:c.225A>G, NM_001204054.2:c.225A>G, NM_001204054.1:c.225A>G, NM_001203260.2:c.225A>G, NM_001203260.1:c.225A>G, NM_001203261.2:c.225A>G, NM_001203261.1:c.225A>G

Select item 14682089384.

rs1468208938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:78079601 (GRCh38)
11:77790647 (GRCh37)
Canonical SPDI:: NC_000011.10:78079600:C:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.78079601C>A, NC_000011.9:g.77790647C>A, NM_004549.6:c.144G>T, NM_004549.5:c.144G>T, NM_001204054.3:c.144G>T, NM_001204054.2:c.144G>T, NM_001204054.1:c.144G>T, NM_001204055.2:c.144G>T, NM_001204055.1:c.144G>T, NM_001203260.2:c.144G>T, NM_001203260.1:c.144G>T, NM_001203261.2:c.144G>T, NM_001203261.1:c.144G>T, NM_001203262.2:c.144G>T, NM_001203262.1:c.144G>T

Select item 14639065545.

rs1463906554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:78079617 (GRCh38)
11:77790663 (GRCh37)
Canonical SPDI:: NC_000011.10:78079616:A:C,NC_000011.10:78079616:A:G
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.78079617A>C, NC_000011.10:g.78079617A>G, NC_000011.9:g.77790663A>C, NC_000011.9:g.77790663A>G, NM_004549.6:c.128T>G, NM_004549.6:c.128T>C, NM_004549.5:c.128T>G, NM_004549.5:c.128T>C, NM_001204054.3:c.128T>G, NM_001204054.3:c.128T>C, NM_001204054.2:c.128T>G, NM_001204054.2:c.128T>C, NM_001204054.1:c.128T>G, NM_001204054.1:c.128T>C, NM_001204055.2:c.128T>G, NM_001204055.2:c.128T>C, NM_001204055.1:c.128T>G, NM_001204055.1:c.128T>C, NM_001203260.2:c.128T>G, NM_001203260.2:c.128T>C, NM_001203260.1:c.128T>G, NM_001203260.1:c.128T>C, NM_001203261.2:c.128T>G, NM_001203261.2:c.128T>C, NM_001203261.1:c.128T>G, NM_001203261.1:c.128T>C, NM_001203262.2:c.128T>G, NM_001203262.2:c.128T>C, NM_001203262.1:c.128T>G, NM_001203262.1:c.128T>C, NP_004540.1:p.Ile43Ser, NP_004540.1:p.Ile43Thr, NP_001190983.1:p.Ile43Ser, NP_001190983.1:p.Ile43Thr, NP_001190984.1:p.Ile43Ser, NP_001190984.1:p.Ile43Thr, NP_001190189.1:p.Ile43Ser, NP_001190189.1:p.Ile43Thr, NP_001190190.1:p.Ile43Ser, NP_001190190.1:p.Ile43Thr, NP_001190191.1:p.Ile43Ser, NP_001190191.1:p.Ile43Thr

Select item 14631778746.

rs1463177874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:78073022 (GRCh38)
11:77784068 (GRCh37)
Canonical SPDI:: NC_000011.10:78073021:G:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.78073022G>A, NC_000011.9:g.77784068G>A, NM_004549.6:c.286C>T, NM_004549.5:c.286C>T, NM_001204055.2:c.217C>T, NM_001204055.1:c.217C>T, NM_001203260.2:c.286C>T, NM_001203260.1:c.286C>T, NM_001203261.2:c.286C>T, NM_001203261.1:c.286C>T, NP_004540.1:p.His96Tyr, NP_001190984.1:p.His73Tyr, NP_001190189.1:p.His96Tyr, NP_001190190.1:p.His96Tyr

Select item 14628319557.

rs1462831955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78070036 (GRCh38)
11:77781082 (GRCh37)
Canonical SPDI:: NC_000011.10:78070035:T:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.78070036T>C, NC_000011.9:g.77781082T>C, NM_004549.6:c.311A>G, NM_004549.5:c.311A>G, NM_001204055.2:c.242A>G, NM_001204055.1:c.242A>G, NP_004540.1:p.Asp104Gly, NP_001190984.1:p.Asp81Gly

Select item 14616101978.

rs1461610197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78079639 (GRCh38)
11:77790685 (GRCh37)
Canonical SPDI:: NC_000011.10:78079638:A:G
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.78079639A>G, NC_000011.9:g.77790685A>G, NM_004549.6:c.106T>C, NM_004549.5:c.106T>C, NM_001204054.3:c.106T>C, NM_001204054.2:c.106T>C, NM_001204054.1:c.106T>C, NM_001204055.2:c.106T>C, NM_001204055.1:c.106T>C, NM_001203260.2:c.106T>C, NM_001203260.1:c.106T>C, NM_001203261.2:c.106T>C, NM_001203261.1:c.106T>C, NM_001203262.2:c.106T>C, NM_001203262.1:c.106T>C

Select item 14580204009.

rs1458020400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:78079676 (GRCh38)
11:77790722 (GRCh37)
Canonical SPDI:: NC_000011.10:78079675:G:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.78079676G>A, NC_000011.9:g.77790722G>A, NM_004549.6:c.69C>T, NM_004549.5:c.69C>T, NM_001204054.3:c.69C>T, NM_001204054.2:c.69C>T, NM_001204054.1:c.69C>T, NM_001204055.2:c.69C>T, NM_001204055.1:c.69C>T, NM_001203260.2:c.69C>T, NM_001203260.1:c.69C>T, NM_001203261.2:c.69C>T, NM_001203261.1:c.69C>T, NM_001203262.2:c.69C>T, NM_001203262.1:c.69C>T

Select item 145189625210.

rs1451896252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:78073099 (GRCh38)
11:77784145 (GRCh37)
Canonical SPDI:: NC_000011.10:78073098:G:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0013/6 (ALFA)
A=0.0011/5 (Estonian)
HGVS:: NC_000011.10:g.78073099G>A, NC_000011.9:g.77784145G>A, NM_004549.6:c.209C>T, NM_004549.5:c.209C>T, NM_001204054.3:c.209C>T, NM_001204054.2:c.209C>T, NM_001204054.1:c.209C>T, NM_001203260.2:c.209C>T, NM_001203260.1:c.209C>T, NM_001203261.2:c.209C>T, NM_001203261.1:c.209C>T, NP_004540.1:p.Ala70Val, NP_001190983.1:p.Ala70Val, NP_001190189.1:p.Ala70Val, NP_001190190.1:p.Ala70Val

Select item 145019884211.

rs1450198842 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:78073004 (GRCh38)
11:77784050 (GRCh37)
Canonical SPDI:: NC_000011.10:78073003:C:
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.78073004del, NC_000011.9:g.77784050del, NM_004549.6:c.304del, NM_004549.5:c.304del, NM_001204055.2:c.235del, NM_001204055.1:c.235del, NM_001203260.2:c.304del, NM_001203260.1:c.304del, NM_001203261.2:c.304del, NM_001203261.1:c.304del, NP_004540.1:p.Glu102fs, NP_001190984.1:p.Glu79fs, NP_001190189.1:p.Glu102fs, NP_001190190.1:p.Glu102fs

Select item 144521758512.

rs1445217585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78073023 (GRCh38)
11:77784069 (GRCh37)
Canonical SPDI:: NC_000011.10:78073022:T:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.78073023T>C, NC_000011.9:g.77784069T>C, NM_004549.6:c.285A>G, NM_004549.5:c.285A>G, NM_001204055.2:c.216A>G, NM_001204055.1:c.216A>G, NM_001203260.2:c.285A>G, NM_001203260.1:c.285A>G, NM_001203261.2:c.285A>G, NM_001203261.1:c.285A>G

Select item 142106353513.

rs1421063535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:78079610 (GRCh38)
11:77790656 (GRCh37)
Canonical SPDI:: NC_000011.10:78079609:G:T
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (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_000011.10:g.78079610G>T, NC_000011.9:g.77790656G>T, NM_004549.6:c.135C>A, NM_004549.5:c.135C>A, NM_001204054.3:c.135C>A, NM_001204054.2:c.135C>A, NM_001204054.1:c.135C>A, NM_001204055.2:c.135C>A, NM_001204055.1:c.135C>A, NM_001203260.2:c.135C>A, NM_001203260.1:c.135C>A, NM_001203261.2:c.135C>A, NM_001203261.1:c.135C>A, NM_001203262.2:c.135C>A, NM_001203262.1:c.135C>A, NP_004540.1:p.Asn45Lys, NP_001190983.1:p.Asn45Lys, NP_001190984.1:p.Asn45Lys, NP_001190189.1:p.Asn45Lys, NP_001190190.1:p.Asn45Lys, NP_001190191.1:p.Asn45Lys

Select item 138415366314.

rs1384153663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:78073067 (GRCh38)
11:77784113 (GRCh37)
Canonical SPDI:: NC_000011.10:78073066:G:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.78073067G>C, NC_000011.9:g.77784113G>C, NM_004549.6:c.241C>G, NM_004549.5:c.241C>G, NM_001204055.2:c.172C>G, NM_001204055.1:c.172C>G, NM_001203260.2:c.241C>G, NM_001203260.1:c.241C>G, NM_001203261.2:c.241C>G, NM_001203261.1:c.241C>G, NP_004540.1:p.Leu81Val, NP_001190984.1:p.Leu58Val, NP_001190189.1:p.Leu81Val, NP_001190190.1:p.Leu81Val

Select item 138387394115.

rs1383873941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:78079684 (GRCh38)
11:77790730 (GRCh37)
Canonical SPDI:: NC_000011.10:78079683:G:A,NC_000011.10:78079683:G:T
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78079684G>A, NC_000011.10:g.78079684G>T, NC_000011.9:g.77790730G>A, NC_000011.9:g.77790730G>T, NM_004549.6:c.61C>T, NM_004549.6:c.61C>A, NM_004549.5:c.61C>T, NM_004549.5:c.61C>A, NM_001204054.3:c.61C>T, NM_001204054.3:c.61C>A, NM_001204054.2:c.61C>T, NM_001204054.2:c.61C>A, NM_001204054.1:c.61C>T, NM_001204054.1:c.61C>A, NM_001204055.2:c.61C>T, NM_001204055.2:c.61C>A, NM_001204055.1:c.61C>T, NM_001204055.1:c.61C>A, NM_001203260.2:c.61C>T, NM_001203260.2:c.61C>A, NM_001203260.1:c.61C>T, NM_001203260.1:c.61C>A, NM_001203261.2:c.61C>T, NM_001203261.2:c.61C>A, NM_001203261.1:c.61C>T, NM_001203261.1:c.61C>A, NM_001203262.2:c.61C>T, NM_001203262.2:c.61C>A, NM_001203262.1:c.61C>T, NM_001203262.1:c.61C>A, NP_004540.1:p.Pro21Ser, NP_004540.1:p.Pro21Thr, NP_001190983.1:p.Pro21Ser, NP_001190983.1:p.Pro21Thr, NP_001190984.1:p.Pro21Ser, NP_001190984.1:p.Pro21Thr, NP_001190189.1:p.Pro21Ser, NP_001190189.1:p.Pro21Thr, NP_001190190.1:p.Pro21Ser, NP_001190190.1:p.Pro21Thr, NP_001190191.1:p.Pro21Ser, NP_001190191.1:p.Pro21Thr

Select item 138065873616.

rs1380658736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78073033 (GRCh38)
11:77784079 (GRCh37)
Canonical SPDI:: NC_000011.10:78073032:T:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.78073033T>C, NC_000011.9:g.77784079T>C, NM_004549.6:c.275A>G, NM_004549.5:c.275A>G, NM_001204055.2:c.206A>G, NM_001204055.1:c.206A>G, NM_001203260.2:c.275A>G, NM_001203260.1:c.275A>G, NM_001203261.2:c.275A>G, NM_001203261.1:c.275A>G, NP_004540.1:p.Tyr92Cys, NP_001190984.1:p.Tyr69Cys, NP_001190189.1:p.Tyr92Cys, NP_001190190.1:p.Tyr92Cys

Select item 137606212717.

rs1376062127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78069995 (GRCh38)
11:77781041 (GRCh37)
Canonical SPDI:: NC_000011.10:78069994:T:C
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.78069995T>C, NC_000011.9:g.77781041T>C, NM_004549.6:c.352A>G, NM_004549.5:c.352A>G, NM_001204055.2:c.283A>G, NM_001204055.1:c.283A>G, NP_004540.1:p.Ile118Val, NP_001190984.1:p.Ile95Val

Select item 137257928718.

rs1372579287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:78079637 (GRCh38)
11:77790683 (GRCh37)
Canonical SPDI:: NC_000011.10:78079636:C:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.78079637C>A, NC_000011.9:g.77790683C>A, NM_004549.6:c.108G>T, NM_004549.5:c.108G>T, NM_001204054.3:c.108G>T, NM_001204054.2:c.108G>T, NM_001204054.1:c.108G>T, NM_001204055.2:c.108G>T, NM_001204055.1:c.108G>T, NM_001203260.2:c.108G>T, NM_001203260.1:c.108G>T, NM_001203261.2:c.108G>T, NM_001203261.1:c.108G>T, NM_001203262.2:c.108G>T, NM_001203262.1:c.108G>T, NP_004540.1:p.Leu36Phe, NP_001190983.1:p.Leu36Phe, NP_001190984.1:p.Leu36Phe, NP_001190189.1:p.Leu36Phe, NP_001190190.1:p.Leu36Phe, NP_001190191.1:p.Leu36Phe

Select item 137167969319.

rs1371679693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:78079615 (GRCh38)
11:77790661 (GRCh37)
Canonical SPDI:: NC_000011.10:78079614:C:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview), LOC105369401 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.78079615C>A, NC_000011.9:g.77790661C>A, NM_004549.6:c.130G>T, NM_004549.5:c.130G>T, NM_001204054.3:c.130G>T, NM_001204054.2:c.130G>T, NM_001204054.1:c.130G>T, NM_001204055.2:c.130G>T, NM_001204055.1:c.130G>T, NM_001203260.2:c.130G>T, NM_001203260.1:c.130G>T, NM_001203261.2:c.130G>T, NM_001203261.1:c.130G>T, NM_001203262.2:c.130G>T, NM_001203262.1:c.130G>T, NP_004540.1:p.Asp44Tyr, NP_001190983.1:p.Asp44Tyr, NP_001190984.1:p.Asp44Tyr, NP_001190189.1:p.Asp44Tyr, NP_001190190.1:p.Asp44Tyr, NP_001190191.1:p.Asp44Tyr

Select item 136350496920.

rs1363504969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:78073097 (GRCh38)
11:77784143 (GRCh37)
Canonical SPDI:: NC_000011.10:78073096:C:A
Gene:: NDUFC2 (Varview), NDUFC2-KCTD14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/5 (ALFA)
A=0.0009/4 (Estonian)
HGVS:: NC_000011.10:g.78073097C>A, NC_000011.9:g.77784143C>A, NM_004549.6:c.211G>T, NM_004549.5:c.211G>T, NM_001204054.3:c.211G>T, NM_001204054.2:c.211G>T, NM_001204054.1:c.211G>T, NM_001203260.2:c.211G>T, NM_001203260.1:c.211G>T, NM_001203261.2:c.211G>T, NM_001203261.1:c.211G>T, NP_004540.1:p.Gly71Ter, NP_001190983.1:p.Gly71Ter, NP_001190189.1:p.Gly71Ter, NP_001190190.1:p.Gly71Ter

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