SNP Links for Protein (Select 4758772) - SNP

Links from Protein

Items: 1 to 20 of 108

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Select item 14860262311.

rs1486026231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54106838 (GRCh38)
19:54610145 (GRCh37)
Canonical SPDI:: NC_000019.10:54106837:C:T
Gene:: NDUFA3 (Varview), TFPT (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_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_000019.10:g.54106838C>T, NW_004166865.1:g.81205C>T, NW_003571061.2:g.81258C>T, NW_003571055.2:g.81258C>T, NC_000019.9:g.54610145C>T, NW_003571059.2:g.81258C>T, NW_003571056.2:g.81258C>T, NW_003571061.1:g.81258C>T, NW_003571057.2:g.81258C>T, NW_003571058.2:g.81258C>T, NT_187693.1:g.81258C>T, NW_003571060.1:g.81258C>T, NW_003571054.1:g.81258C>T, NM_004542.4:c.191C>T, NM_004542.3:c.191C>T, NP_004533.1:p.Pro64Leu

Select item 14746212862.

rs1474621286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54105936 (GRCh38)
19:54609243 (GRCh37)
Canonical SPDI:: NC_000019.10:54105935:G:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.54105936G>A, NW_004166865.1:g.80303G>A, NW_003571061.2:g.80356G>A, NW_003571055.2:g.80356G>A, NC_000019.9:g.54609243G>A, NW_003571059.2:g.80356G>A, NW_003571056.2:g.80356G>A, NW_003571061.1:g.80356G>A, NW_003571057.2:g.80356G>A, NW_003571058.2:g.80356G>A, NT_187693.1:g.80356G>A, NW_003571060.1:g.80356G>A, NW_003571054.1:g.80356G>A, NM_004542.4:c.88G>A, NM_004542.3:c.88G>A, NP_004533.1:p.Val30Ile

Select item 14694465623.

rs1469446562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54105947 (GRCh38)
19:54609254 (GRCh37)
Canonical SPDI:: NC_000019.10:54105946:C:T
Gene:: NDUFA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54105947C>T, NW_004166865.1:g.80314C>T, NW_003571061.2:g.80367C>T, NW_003571055.2:g.80367C>T, NC_000019.9:g.54609254C>T, NW_003571059.2:g.80367C>T, NW_003571056.2:g.80367C>T, NW_003571061.1:g.80367C>T, NW_003571057.2:g.80367C>T, NW_003571058.2:g.80367C>T, NT_187693.1:g.80367C>T, NW_003571060.1:g.80367C>T, NW_003571054.1:g.80367C>T, NM_004542.4:c.99C>T, NM_004542.3:c.99C>T

Select item 14580060234.

rs1458006023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54102885 (GRCh38)
19:54606193 (GRCh37)
Canonical SPDI:: NC_000019.10:54102884:G:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54102885G>A, NW_004166865.1:g.77252G>A, NW_003571061.2:g.77306G>A, NW_003571055.2:g.77306G>A, NC_000019.9:g.54606193G>A, NW_003571059.2:g.77306G>A, NW_003571056.2:g.77306G>A, NW_003571061.1:g.77306G>A, NW_003571057.2:g.77306G>A, NW_003571058.2:g.77306G>A, NT_187693.1:g.77306G>A, NW_003571060.1:g.77306G>A, NW_003571054.1:g.77306G>A, NM_004542.4:c.7G>A, NM_004542.3:c.7G>A, NP_004533.1:p.Ala3Thr

Select item 14572530435.

rs1457253043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54103147 (GRCh38)
19:54606455 (GRCh37)
Canonical SPDI:: NC_000019.10:54103146:A:G
Gene:: NDUFA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54103147A>G, NW_004166865.1:g.77514A>G, NW_003571061.2:g.77568A>G, NW_003571055.2:g.77568A>G, NC_000019.9:g.54606455A>G, NW_003571059.2:g.77568A>G, NW_003571056.2:g.77568A>G, NW_003571061.1:g.77568A>G, NW_003571057.2:g.77568A>G, NW_003571058.2:g.77568A>G, NT_187693.1:g.77568A>G, NW_003571060.1:g.77568A>G, NW_003571054.1:g.77568A>G, NM_004542.4:c.44A>G, NM_004542.3:c.44A>G, NP_004533.1:p.Lys15Arg

Select item 14536114666.

rs1453611466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:54106826 (GRCh38)
19:54610133 (GRCh37)
Canonical SPDI:: NC_000019.10:54106825:A:T
Gene:: NDUFA3 (Varview), TFPT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54106826A>T, NW_004166865.1:g.81193A>T, NW_003571061.2:g.81246A>T, NW_003571055.2:g.81246A>T, NC_000019.9:g.54610133A>T, NW_003571059.2:g.81246A>T, NW_003571056.2:g.81246A>T, NW_003571061.1:g.81246A>T, NW_003571057.2:g.81246A>T, NW_003571058.2:g.81246A>T, NT_187693.1:g.81246A>T, NW_003571060.1:g.81246A>T, NW_003571054.1:g.81246A>T, NM_004542.4:c.179A>T, NM_004542.3:c.179A>T, NP_004533.1:p.Asp60Val

Select item 14366323857.

rs1436632385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54103184 (GRCh38)
19:54606492 (GRCh37)
Canonical SPDI:: NC_000019.10:54103183:C:T
Gene:: NDUFA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.54103184C>T, NW_004166865.1:g.77551C>T, NW_003571061.2:g.77605C>T, NW_003571055.2:g.77605C>T, NC_000019.9:g.54606492C>T, NW_003571059.2:g.77605C>T, NW_003571056.2:g.77605C>T, NW_003571061.1:g.77605C>T, NW_003571057.2:g.77605C>T, NW_003571058.2:g.77605C>T, NT_187693.1:g.77605C>T, NW_003571060.1:g.77605C>T, NW_003571054.1:g.77605C>T, NM_004542.4:c.81C>T, NM_004542.3:c.81C>T

Select item 14302077838.

rs1430207783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:54105945 (GRCh38)
19:54609252 (GRCh37)
Canonical SPDI:: NC_000019.10:54105944:C:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54105945C>A, NW_004166865.1:g.80312C>A, NW_003571061.2:g.80365C>A, NW_003571055.2:g.80365C>A, NC_000019.9:g.54609252C>A, NW_003571059.2:g.80365C>A, NW_003571056.2:g.80365C>A, NW_003571061.1:g.80365C>A, NW_003571057.2:g.80365C>A, NW_003571058.2:g.80365C>A, NT_187693.1:g.80365C>A, NW_003571060.1:g.80365C>A, NW_003571054.1:g.80365C>A, NM_004542.4:c.97C>A, NM_004542.3:c.97C>A, NP_004533.1:p.Pro33Thr

Select item 14278922809.

rs1427892280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54103175 (GRCh38)
19:54606483 (GRCh37)
Canonical SPDI:: NC_000019.10:54103174:C:T
Gene:: NDUFA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54103175C>T, NW_004166865.1:g.77542C>T, NW_003571061.2:g.77596C>T, NW_003571055.2:g.77596C>T, NC_000019.9:g.54606483C>T, NW_003571059.2:g.77596C>T, NW_003571056.2:g.77596C>T, NW_003571061.1:g.77596C>T, NW_003571057.2:g.77596C>T, NW_003571058.2:g.77596C>T, NT_187693.1:g.77596C>T, NW_003571060.1:g.77596C>T, NW_003571054.1:g.77596C>T, NM_004542.4:c.72C>T, NM_004542.3:c.72C>T

Select item 142685258310.

rs1426852583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54106815 (GRCh38)
19:54610122 (GRCh37)
Canonical SPDI:: NC_000019.10:54106814:C:T
Gene:: NDUFA3 (Varview), TFPT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54106815C>T, NW_004166865.1:g.81182C>T, NW_003571061.2:g.81235C>T, NW_003571055.2:g.81235C>T, NC_000019.9:g.54610122C>T, NW_003571059.2:g.81235C>T, NW_003571056.2:g.81235C>T, NW_003571061.1:g.81235C>T, NW_003571057.2:g.81235C>T, NW_003571058.2:g.81235C>T, NT_187693.1:g.81235C>T, NW_003571060.1:g.81235C>T, NW_003571054.1:g.81235C>T, NM_004542.4:c.168C>T, NM_004542.3:c.168C>T

Select item 141996438711.

rs1419964387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:54103157 (GRCh38)
19:54606465 (GRCh37)
Canonical SPDI:: NC_000019.10:54103156:G:C
Gene:: NDUFA3 (Varview)
Functional Consequence:: synonymous_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_000019.10:g.54103157G>C, NW_004166865.1:g.77524G>C, NW_003571061.2:g.77578G>C, NW_003571055.2:g.77578G>C, NC_000019.9:g.54606465G>C, NW_003571059.2:g.77578G>C, NW_003571056.2:g.77578G>C, NW_003571061.1:g.77578G>C, NW_003571057.2:g.77578G>C, NW_003571058.2:g.77578G>C, NT_187693.1:g.77578G>C, NW_003571060.1:g.77578G>C, NW_003571054.1:g.77578G>C, NM_004542.4:c.54G>C, NM_004542.3:c.54G>C

Select item 140720351412.

rs1407203514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54105944 (GRCh38)
19:54609251 (GRCh37)
Canonical SPDI:: NC_000019.10:54105943:G:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: 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_000019.10:g.54105944G>A, NW_004166865.1:g.80311G>A, NW_003571061.2:g.80364G>A, NW_003571055.2:g.80364G>A, NC_000019.9:g.54609251G>A, NW_003571059.2:g.80364G>A, NW_003571056.2:g.80364G>A, NW_003571061.1:g.80364G>A, NW_003571057.2:g.80364G>A, NW_003571058.2:g.80364G>A, NT_187693.1:g.80364G>A, NW_003571060.1:g.80364G>A, NW_003571054.1:g.80364G>A, NM_004542.4:c.96G>A, NM_004542.3:c.96G>A

Select item 140353414613.

rs1403534146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54103183 (GRCh38)
19:54606491 (GRCh37)
Canonical SPDI:: NC_000019.10:54103182:G:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.54103183G>A, NW_004166865.1:g.77550G>A, NW_003571061.2:g.77604G>A, NW_003571055.2:g.77604G>A, NC_000019.9:g.54606491G>A, NW_003571059.2:g.77604G>A, NW_003571056.2:g.77604G>A, NW_003571061.1:g.77604G>A, NW_003571057.2:g.77604G>A, NW_003571058.2:g.77604G>A, NT_187693.1:g.77604G>A, NW_003571060.1:g.77604G>A, NW_003571054.1:g.77604G>A, NM_004542.4:c.80G>A, NM_004542.3:c.80G>A, NP_004533.1:p.Gly27Asp

Select item 139085694814.

rs1390856948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:54105952 (GRCh38)
19:54609259 (GRCh37)
Canonical SPDI:: NC_000019.10:54105951:T:C
Gene:: NDUFA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54105952T>C, NW_004166865.1:g.80319T>C, NW_003571061.2:g.80372T>C, NW_003571055.2:g.80372T>C, NC_000019.9:g.54609259T>C, NW_003571059.2:g.80372T>C, NW_003571056.2:g.80372T>C, NW_003571061.1:g.80372T>C, NW_003571057.2:g.80372T>C, NW_003571058.2:g.80372T>C, NT_187693.1:g.80372T>C, NW_003571060.1:g.80372T>C, NW_003571054.1:g.80372T>C, NM_004542.4:c.104T>C, NM_004542.3:c.104T>C, NP_004533.1:p.Leu35Ser

Select item 138283473315.

rs1382834733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54106848 (GRCh38)
19:54610155 (GRCh37)
Canonical SPDI:: NC_000019.10:54106847:C:T
Gene:: NDUFA3 (Varview), TFPT (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54106848C>T, NW_004166865.1:g.81215C>T, NW_003571061.2:g.81268C>T, NW_003571055.2:g.81268C>T, NC_000019.9:g.54610155C>T, NW_003571059.2:g.81268C>T, NW_003571056.2:g.81268C>T, NW_003571061.1:g.81268C>T, NW_003571057.2:g.81268C>T, NW_003571058.2:g.81268C>T, NT_187693.1:g.81268C>T, NW_003571060.1:g.81268C>T, NW_003571054.1:g.81268C>T, NM_004542.4:c.201C>T, NM_004542.3:c.201C>T

Select item 138282106816.

rs1382821068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54102887 (GRCh38)
19:54606195 (GRCh37)
Canonical SPDI:: NC_000019.10:54102886:G:A
Gene:: NDUFA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.54102887G>A, NW_004166865.1:g.77254G>A, NW_003571061.2:g.77308G>A, NW_003571055.2:g.77308G>A, NC_000019.9:g.54606195G>A, NW_003571059.2:g.77308G>A, NW_003571056.2:g.77308G>A, NW_003571061.1:g.77308G>A, NW_003571057.2:g.77308G>A, NW_003571058.2:g.77308G>A, NT_187693.1:g.77308G>A, NW_003571060.1:g.77308G>A, NW_003571054.1:g.77308G>A, NM_004542.4:c.9G>A, NM_004542.3:c.9G>A

Select item 138265944817.

rs1382659448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:54106005 (GRCh38)
19:54609312 (GRCh37)
Canonical SPDI:: NC_000019.10:54106004:T:C
Gene:: NDUFA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54106005T>C, NW_004166865.1:g.80372T>C, NW_003571061.2:g.80425T>C, NW_003571055.2:g.80425T>C, NC_000019.9:g.54609312T>C, NW_003571059.2:g.80425T>C, NW_003571056.2:g.80425T>C, NW_003571061.1:g.80425T>C, NW_003571057.2:g.80425T>C, NW_003571058.2:g.80425T>C, NT_187693.1:g.80425T>C, NW_003571060.1:g.80425T>C, NW_003571054.1:g.80425T>C, NM_004542.4:c.157T>C, NM_004542.3:c.157T>C, NP_004533.1:p.Tyr53His

Select item 137797380018.

rs1377973800 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCG>- [Show Flanks]
Chromosome:: 19:54103177 (GRCh38)
19:54606485 (GRCh37)
Canonical SPDI:: NC_000019.10:54103170:TCGTCGTCG:TCGTCG
Gene:: NDUFA3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCGTCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54103171TCG[2], NW_004166865.1:g.77538TCG[2], NW_003571061.2:g.77592TCG[2], NW_003571055.2:g.77592TCG[2], NC_000019.9:g.54606479TCG[2], NW_003571059.2:g.77592TCG[2], NW_003571056.2:g.77592TCG[2], NW_003571061.1:g.77592TCG[2], NW_003571057.2:g.77592TCG[2], NW_003571058.2:g.77592TCG[2], NT_187693.1:g.77592TCG[2], NW_003571060.1:g.77592TCG[2], NW_003571054.1:g.77592TCG[2], NM_004542.4:c.68TCG[2], NM_004542.3:c.68TCG[2], NP_004533.1:p.Val25del

Select item 136777152119.

rs1367771521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54106832 (GRCh38)
19:54610139 (GRCh37)
Canonical SPDI:: NC_000019.10:54106831:A:G
Gene:: NDUFA3 (Varview), TFPT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.54106832A>G, NW_004166865.1:g.81199A>G, NW_003571061.2:g.81252A>G, NW_003571055.2:g.81252A>G, NC_000019.9:g.54610139A>G, NW_003571059.2:g.81252A>G, NW_003571056.2:g.81252A>G, NW_003571061.1:g.81252A>G, NW_003571057.2:g.81252A>G, NW_003571058.2:g.81252A>G, NT_187693.1:g.81252A>G, NW_003571060.1:g.81252A>G, NW_003571054.1:g.81252A>G, NM_004542.4:c.185A>G, NM_004542.3:c.185A>G, NP_004533.1:p.Asn62Ser

Select item 136583466120.

rs1365834661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54106001 (GRCh38)
19:54609308 (GRCh37)
Canonical SPDI:: NC_000019.10:54106000:C:T
Gene:: NDUFA3 (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_000019.10:g.54106001C>T, NW_004166865.1:g.80368C>T, NW_003571061.2:g.80421C>T, NW_003571055.2:g.80421C>T, NC_000019.9:g.54609308C>T, NW_003571059.2:g.80421C>T, NW_003571056.2:g.80421C>T, NW_003571061.1:g.80421C>T, NW_003571057.2:g.80421C>T, NW_003571058.2:g.80421C>T, NT_187693.1:g.80421C>T, NW_003571060.1:g.80421C>T, NW_003571054.1:g.80421C>T, NM_004542.4:c.153C>T, NM_004542.3:c.153C>T

dbSNP

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