SNP Links for Nucleotide (Select 557128993) - SNP

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Links from Nucleotide

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Select item 14899482431.

rs1489948243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28723211 (GRCh38)
16:28734532 (GRCh37)
Canonical SPDI:: NC_000016.10:28723210:A:G
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.28723211A>G, NC_000016.9:g.28734532A>G, NM_003752.5:c.824A>G, NM_003752.4:c.824A>G, NM_003752.3:c.824A>G, XM_017023814.3:c.824A>G, XM_017023814.2:c.824A>G, XM_017023814.1:c.824A>G, NM_001267574.2:c.824A>G, NM_001267574.1:c.824A>G, NM_001037808.2:c.824A>G, NM_001037808.1:c.824A>G, XM_047434829.1:c.-125A>G, XM_047434828.1:c.824A>G, XM_047434827.1:c.824A>G, NM_001199142.1:c.824A>G, NM_001286478.1:c.794A>G, NP_003743.1:p.Glu275Gly, XP_016879303.1:p.Glu275Gly, NP_001254503.1:p.Glu275Gly, NP_001032897.1:p.Glu275Gly, XP_047290784.1:p.Glu275Gly, XP_047290783.1:p.Glu275Gly, NP_001186071.1:p.Glu275Gly, NP_001273407.1:p.Glu265Gly

Select item 14796656402.

rs1479665640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:28723169 (GRCh38)
16:28734490 (GRCh37)
Canonical SPDI:: NC_000016.10:28723168:C:A,NC_000016.10:28723168:C:T
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28723169C>A, NC_000016.10:g.28723169C>T, NC_000016.9:g.28734490C>A, NC_000016.9:g.28734490C>T, NM_003752.5:c.782C>A, NM_003752.5:c.782C>T, NM_003752.4:c.782C>A, NM_003752.4:c.782C>T, NM_003752.3:c.782C>A, NM_003752.3:c.782C>T, XM_017023814.3:c.782C>A, XM_017023814.3:c.782C>T, XM_017023814.2:c.782C>A, XM_017023814.2:c.782C>T, XM_017023814.1:c.782C>A, XM_017023814.1:c.782C>T, NM_001267574.2:c.782C>A, NM_001267574.2:c.782C>T, NM_001267574.1:c.782C>A, NM_001267574.1:c.782C>T, NM_001037808.2:c.782C>A, NM_001037808.2:c.782C>T, NM_001037808.1:c.782C>A, NM_001037808.1:c.782C>T, XM_047434829.1:c.-167C>A, XM_047434829.1:c.-167C>T, XM_047434828.1:c.782C>A, XM_047434828.1:c.782C>T, XM_047434827.1:c.782C>A, XM_047434827.1:c.782C>T, NM_001199142.1:c.782C>A, NM_001199142.1:c.782C>T, NM_001286478.1:c.752C>A, NM_001286478.1:c.752C>T, NP_003743.1:p.Pro261His, NP_003743.1:p.Pro261Leu, XP_016879303.1:p.Pro261His, XP_016879303.1:p.Pro261Leu, NP_001254503.1:p.Pro261His, NP_001254503.1:p.Pro261Leu, NP_001032897.1:p.Pro261His, NP_001032897.1:p.Pro261Leu, XP_047290784.1:p.Pro261His, XP_047290784.1:p.Pro261Leu, XP_047290783.1:p.Pro261His, XP_047290783.1:p.Pro261Leu, NP_001186071.1:p.Pro261His, NP_001186071.1:p.Pro261Leu, NP_001273407.1:p.Pro251His, NP_001273407.1:p.Pro251Leu

Select item 14792246973.

rs1479224697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28731874 (GRCh38)
16:28743195 (GRCh37)
Canonical SPDI:: NC_000016.10:28731873:C:T
Gene:: EIF3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.28731874C>T, NC_000016.9:g.28743195C>T, NM_003752.5:c.1864C>T, NM_003752.4:c.1864C>T, NM_003752.3:c.1864C>T, XM_017023814.3:c.1864C>T, XM_017023814.2:c.1864C>T, XM_017023814.1:c.1864C>T, NM_001267574.2:c.1864C>T, NM_001267574.1:c.1864C>T, NM_001037808.2:c.1864C>T, NM_001037808.1:c.1864C>T, XM_047434829.1:c.916C>T, XM_047434828.1:c.1864C>T, XM_047434827.1:c.1864C>T, NM_001199142.1:c.1864C>T, NM_001286478.1:c.1834C>T, NP_003743.1:p.Arg622Cys, XP_016879303.1:p.Arg622Cys, NP_001254503.1:p.Arg622Cys, NP_001032897.1:p.Arg622Cys, XP_047290785.1:p.Arg306Cys, XP_047290784.1:p.Arg622Cys, XP_047290783.1:p.Arg622Cys, NP_001186071.1:p.Arg622Cys, NP_001273407.1:p.Arg612Cys

Select item 14617344944.

rs1461734494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:28735674 (GRCh38)
16:28746995 (GRCh37)
Canonical SPDI:: NC_000016.10:28735673:C:A
Gene:: EIF3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
HGVS:: NC_000016.10:g.28735674C>A, NC_000016.9:g.28746995C>A, NM_003752.4:c.*161C>A, NM_003752.3:c.*161C>A, NM_001267574.2:c.*161C>A, NM_001267574.1:c.*161C>A, NM_001037808.2:c.*161C>A, NM_001037808.1:c.*161C>A, XM_047434829.1:c.*161C>A, XM_047434828.1:c.*161C>A, XM_047434827.1:c.*161C>A, NM_001199142.1:c.*161C>A, NM_001286478.1:c.*161C>A

Select item 14611265965.

rs1461126596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28723522 (GRCh38)
16:28734843 (GRCh37)
Canonical SPDI:: NC_000016.10:28723521:A:G
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.28723522A>G, NC_000016.9:g.28734843A>G, NM_003752.5:c.1011A>G, NM_003752.4:c.1011A>G, NM_003752.3:c.1011A>G, XM_017023814.3:c.1011A>G, XM_017023814.2:c.1011A>G, XM_017023814.1:c.1011A>G, NM_001267574.2:c.1011A>G, NM_001267574.1:c.1011A>G, NM_001037808.2:c.1011A>G, NM_001037808.1:c.1011A>G, XM_047434829.1:c.63A>G, XM_047434828.1:c.1011A>G, XM_047434827.1:c.1011A>G, NM_001199142.1:c.1011A>G, NM_001286478.1:c.981A>G

Select item 14442221856.

rs1444222185 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:28723545 (GRCh38)
16:28734866 (GRCh37)
Canonical SPDI:: NC_000016.10:28723544:C:
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28723545del, NC_000016.9:g.28734866del, NM_003752.5:c.1034del, NM_003752.4:c.1034del, NM_003752.3:c.1034del, XM_017023814.3:c.1034del, XM_017023814.2:c.1034del, XM_017023814.1:c.1034del, NM_001267574.2:c.1034del, NM_001267574.1:c.1034del, NM_001037808.2:c.1034del, NM_001037808.1:c.1034del, XM_047434829.1:c.86del, XM_047434828.1:c.1034del, XM_047434827.1:c.1034del, NM_001199142.1:c.1034del, NM_001286478.1:c.1004del, NP_003743.1:p.Thr345fs, XP_016879303.1:p.Thr345fs, NP_001254503.1:p.Thr345fs, NP_001032897.1:p.Thr345fs, XP_047290785.1:p.Thr29fs, XP_047290784.1:p.Thr345fs, XP_047290783.1:p.Thr345fs, NP_001186071.1:p.Thr345fs, NP_001273407.1:p.Thr335fs

Select item 14425778417.

rs1442577841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28727105 (GRCh38)
16:28738426 (GRCh37)
Canonical SPDI:: NC_000016.10:28727104:C:T
Gene:: EIF3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.28727105C>T, NC_000016.9:g.28738426C>T, NM_003752.5:c.1678C>T, NM_003752.4:c.1678C>T, NM_003752.3:c.1678C>T, XM_017023814.3:c.1678C>T, XM_017023814.2:c.1678C>T, XM_017023814.1:c.1678C>T, NM_001267574.2:c.1678C>T, NM_001267574.1:c.1678C>T, NM_001037808.2:c.1678C>T, NM_001037808.1:c.1678C>T, XM_047434829.1:c.730C>T, XM_047434828.1:c.1678C>T, XM_047434827.1:c.1678C>T, NM_001199142.1:c.1678C>T, NM_001286478.1:c.1648C>T, NP_003743.1:p.Arg560Cys, XP_016879303.1:p.Arg560Cys, NP_001254503.1:p.Arg560Cys, NP_001032897.1:p.Arg560Cys, XP_047290785.1:p.Arg244Cys, XP_047290784.1:p.Arg560Cys, XP_047290783.1:p.Arg560Cys, NP_001186071.1:p.Arg560Cys, NP_001273407.1:p.Arg550Cys

Select item 14385963838.

rs1438596383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28727235 (GRCh38)
16:28738556 (GRCh37)
Canonical SPDI:: NC_000016.10:28727234:C:T
Gene:: EIF3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.28727235C>T, NC_000016.9:g.28738556C>T, NM_003752.5:c.1808C>T, NM_003752.4:c.1808C>T, NM_003752.3:c.1808C>T, XM_017023814.3:c.1808C>T, XM_017023814.2:c.1808C>T, XM_017023814.1:c.1808C>T, NM_001267574.2:c.1808C>T, NM_001267574.1:c.1808C>T, NM_001037808.2:c.1808C>T, NM_001037808.1:c.1808C>T, XM_047434829.1:c.860C>T, XM_047434828.1:c.1808C>T, XM_047434827.1:c.1808C>T, NM_001199142.1:c.1808C>T, NM_001286478.1:c.1778C>T, NP_003743.1:p.Pro603Leu, XP_016879303.1:p.Pro603Leu, NP_001254503.1:p.Pro603Leu, NP_001032897.1:p.Pro603Leu, XP_047290785.1:p.Pro287Leu, XP_047290784.1:p.Pro603Leu, XP_047290783.1:p.Pro603Leu, NP_001186071.1:p.Pro603Leu, NP_001273407.1:p.Pro593Leu

Select item 14320350479.

rs1432035047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28723494 (GRCh38)
16:28734815 (GRCh37)
Canonical SPDI:: NC_000016.10:28723493:T:C
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28723494T>C, NC_000016.9:g.28734815T>C, NM_003752.5:c.983T>C, NM_003752.4:c.983T>C, NM_003752.3:c.983T>C, XM_017023814.3:c.983T>C, XM_017023814.2:c.983T>C, XM_017023814.1:c.983T>C, NM_001267574.2:c.983T>C, NM_001267574.1:c.983T>C, NM_001037808.2:c.983T>C, NM_001037808.1:c.983T>C, XM_047434829.1:c.35T>C, XM_047434828.1:c.983T>C, XM_047434827.1:c.983T>C, NM_001199142.1:c.983T>C, NM_001286478.1:c.953T>C, NP_003743.1:p.Val328Ala, XP_016879303.1:p.Val328Ala, NP_001254503.1:p.Val328Ala, NP_001032897.1:p.Val328Ala, XP_047290785.1:p.Val12Ala, XP_047290784.1:p.Val328Ala, XP_047290783.1:p.Val328Ala, NP_001186071.1:p.Val328Ala, NP_001273407.1:p.Val318Ala

Select item 142843767210.

rs1428437672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:28723228 (GRCh38)
16:28734549 (GRCh37)
Canonical SPDI:: NC_000016.10:28723227:A:C
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.28723228A>C, NC_000016.9:g.28734549A>C, NM_003752.5:c.841A>C, NM_003752.4:c.841A>C, NM_003752.3:c.841A>C, XM_017023814.3:c.841A>C, XM_017023814.2:c.841A>C, XM_017023814.1:c.841A>C, NM_001267574.2:c.841A>C, NM_001267574.1:c.841A>C, NM_001037808.2:c.841A>C, NM_001037808.1:c.841A>C, XM_047434829.1:c.-108A>C, XM_047434828.1:c.841A>C, XM_047434827.1:c.841A>C, NM_001199142.1:c.841A>C, NM_001286478.1:c.811A>C, NP_003743.1:p.Lys281Gln, XP_016879303.1:p.Lys281Gln, NP_001254503.1:p.Lys281Gln, NP_001032897.1:p.Lys281Gln, XP_047290784.1:p.Lys281Gln, XP_047290783.1:p.Lys281Gln, NP_001186071.1:p.Lys281Gln, NP_001273407.1:p.Lys271Gln

Select item 142431056111.

rs1424310561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28723488 (GRCh38)
16:28734809 (GRCh37)
Canonical SPDI:: NC_000016.10:28723487:A:G
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28723488A>G, NC_000016.9:g.28734809A>G, NM_003752.5:c.977A>G, NM_003752.4:c.977A>G, NM_003752.3:c.977A>G, XM_017023814.3:c.977A>G, XM_017023814.2:c.977A>G, XM_017023814.1:c.977A>G, NM_001267574.2:c.977A>G, NM_001267574.1:c.977A>G, NM_001037808.2:c.977A>G, NM_001037808.1:c.977A>G, XM_047434829.1:c.29A>G, XM_047434828.1:c.977A>G, XM_047434827.1:c.977A>G, NM_001199142.1:c.977A>G, NM_001286478.1:c.947A>G, NP_003743.1:p.His326Arg, XP_016879303.1:p.His326Arg, NP_001254503.1:p.His326Arg, NP_001032897.1:p.His326Arg, XP_047290785.1:p.His10Arg, XP_047290784.1:p.His326Arg, XP_047290783.1:p.His326Arg, NP_001186071.1:p.His326Arg, NP_001273407.1:p.His316Arg

Select item 141701373112.

rs1417013731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28723257 (GRCh38)
16:28734578 (GRCh37)
Canonical SPDI:: NC_000016.10:28723256:T:C
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000044/11 (GnomAD_exomes)
C=0.000049/6 (ExAC)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.28723257T>C, NC_000016.9:g.28734578T>C, NM_003752.5:c.870T>C, NM_003752.4:c.870T>C, NM_003752.3:c.870T>C, XM_017023814.3:c.870T>C, XM_017023814.2:c.870T>C, XM_017023814.1:c.870T>C, NM_001267574.2:c.870T>C, NM_001267574.1:c.870T>C, NM_001037808.2:c.870T>C, NM_001037808.1:c.870T>C, XM_047434829.1:c.-79T>C, XM_047434828.1:c.870T>C, XM_047434827.1:c.870T>C, NM_001199142.1:c.870T>C, NM_001286478.1:c.840T>C

Select item 141659663113.

rs1416596631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:28726665 (GRCh38)
16:28737986 (GRCh37)
Canonical SPDI:: NC_000016.10:28726664:G:T
Gene:: EIF3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.28726665G>T, NC_000016.9:g.28737986G>T, NM_003752.5:c.1463G>T, NM_003752.4:c.1463G>T, NM_003752.3:c.1463G>T, XM_017023814.3:c.1463G>T, XM_017023814.2:c.1463G>T, XM_017023814.1:c.1463G>T, NM_001267574.2:c.1463G>T, NM_001267574.1:c.1463G>T, NM_001037808.2:c.1463G>T, NM_001037808.1:c.1463G>T, XM_047434829.1:c.515G>T, XM_047434828.1:c.1463G>T, XM_047434827.1:c.1463G>T, NM_001199142.1:c.1463G>T, NM_001286478.1:c.1433G>T, NP_003743.1:p.Arg488Leu, XP_016879303.1:p.Arg488Leu, NP_001254503.1:p.Arg488Leu, NP_001032897.1:p.Arg488Leu, XP_047290785.1:p.Arg172Leu, XP_047290784.1:p.Arg488Leu, XP_047290783.1:p.Arg488Leu, NP_001186071.1:p.Arg488Leu, NP_001273407.1:p.Arg478Leu

Select item 141094758314.

rs1410947583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28723289 (GRCh38)
16:28734610 (GRCh37)
Canonical SPDI:: NC_000016.10:28723288:G:A
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,stop_gained,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_000016.10:g.28723289G>A, NC_000016.9:g.28734610G>A, NM_003752.5:c.902G>A, NM_003752.4:c.902G>A, NM_003752.3:c.902G>A, XM_017023814.3:c.902G>A, XM_017023814.2:c.902G>A, XM_017023814.1:c.902G>A, NM_001267574.2:c.902G>A, NM_001267574.1:c.902G>A, NM_001037808.2:c.902G>A, NM_001037808.1:c.902G>A, XM_047434829.1:c.-47G>A, XM_047434828.1:c.902G>A, XM_047434827.1:c.902G>A, NM_001199142.1:c.902G>A, NM_001286478.1:c.872G>A, NP_003743.1:p.Trp301Ter, XP_016879303.1:p.Trp301Ter, NP_001254503.1:p.Trp301Ter, NP_001032897.1:p.Trp301Ter, XP_047290784.1:p.Trp301Ter, XP_047290783.1:p.Trp301Ter, NP_001186071.1:p.Trp301Ter, NP_001273407.1:p.Trp291Ter

Select item 141090002015.

rs1410900020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:28723308 (GRCh38)
16:28734629 (GRCh37)
Canonical SPDI:: NC_000016.10:28723307:A:C
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.28723308A>C, NC_000016.9:g.28734629A>C, NM_003752.5:c.921A>C, NM_003752.4:c.921A>C, NM_003752.3:c.921A>C, XM_017023814.3:c.921A>C, XM_017023814.2:c.921A>C, XM_017023814.1:c.921A>C, NM_001267574.2:c.921A>C, NM_001267574.1:c.921A>C, NM_001037808.2:c.921A>C, NM_001037808.1:c.921A>C, XM_047434829.1:c.-28A>C, XM_047434828.1:c.921A>C, XM_047434827.1:c.921A>C, NM_001199142.1:c.921A>C, NM_001286478.1:c.891A>C

Select item 138964243516.

rs1389642435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGA>- [Show Flanks]
Chromosome:: 16:28723512 (GRCh38)
16:28734833 (GRCh37)
Canonical SPDI:: NC_000016.10:28723508:TGAATGA:TGA
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28723512_28723515del, NC_000016.9:g.28734833_28734836del, NM_003752.5:c.1001_1004del, NM_003752.4:c.1001_1004del, NM_003752.3:c.1001_1004del, XM_017023814.3:c.1001_1004del, XM_017023814.2:c.1001_1004del, XM_017023814.1:c.1001_1004del, NM_001267574.2:c.1001_1004del, NM_001267574.1:c.1001_1004del, NM_001037808.2:c.1001_1004del, NM_001037808.1:c.1001_1004del, XM_047434829.1:c.53_56del, XM_047434828.1:c.1001_1004del, XM_047434827.1:c.1001_1004del, NM_001199142.1:c.1001_1004del, NM_001286478.1:c.971_974del, NP_003743.1:p.Asn334fs, XP_016879303.1:p.Asn334fs, NP_001254503.1:p.Asn334fs, NP_001032897.1:p.Asn334fs, XP_047290785.1:p.Asn18fs, XP_047290784.1:p.Asn334fs, XP_047290783.1:p.Asn334fs, NP_001186071.1:p.Asn334fs, NP_001273407.1:p.Asn324fs

Select item 138601581417.

rs1386015814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:28723542 (GRCh38)
16:28734863 (GRCh37)
Canonical SPDI:: NC_000016.10:28723541:G:T
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000037/5 (GnomAD)
HGVS:: NC_000016.10:g.28723542G>T, NC_000016.9:g.28734863G>T, NM_003752.5:c.1031G>T, NM_003752.4:c.1031G>T, NM_003752.3:c.1031G>T, XM_017023814.3:c.1031G>T, XM_017023814.2:c.1031G>T, XM_017023814.1:c.1031G>T, NM_001267574.2:c.1031G>T, NM_001267574.1:c.1031G>T, NM_001037808.2:c.1031G>T, NM_001037808.1:c.1031G>T, XM_047434829.1:c.83G>T, XM_047434828.1:c.1031G>T, XM_047434827.1:c.1031G>T, NM_001199142.1:c.1031G>T, NM_001286478.1:c.1001G>T, NP_003743.1:p.Gly344Val, XP_016879303.1:p.Gly344Val, NP_001254503.1:p.Gly344Val, NP_001032897.1:p.Gly344Val, XP_047290785.1:p.Gly28Val, XP_047290784.1:p.Gly344Val, XP_047290783.1:p.Gly344Val, NP_001186071.1:p.Gly344Val, NP_001273407.1:p.Gly334Val

Select item 138136471418.

rs1381364714 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:28735654 (GRCh38)
16:28746975 (GRCh37)
Canonical SPDI:: NC_000016.10:28735653:A:
Gene:: EIF3C (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.28735654del, NC_000016.9:g.28746975del, NM_003752.4:c.*141del, NM_003752.3:c.*141del, NM_001267574.2:c.*141del, NM_001267574.1:c.*141del, NM_001037808.2:c.*141del, NM_001037808.1:c.*141del, XM_047434829.1:c.*141del, XM_047434828.1:c.*141del, XM_047434827.1:c.*141del, NM_001199142.1:c.*141del, NM_001286478.1:c.*141del

Select item 138075038119.

rs1380750381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:28723316 (GRCh38)
16:28734637 (GRCh37)
Canonical SPDI:: NC_000016.10:28723315:T:A,NC_000016.10:28723315:T:C
Gene:: EIF3C (Varview), MIR6862-2 (Varview)
Functional Consequence:: stop_gained,missense_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000024/6 (GnomAD_exomes)
A=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.28723316T>A, NC_000016.10:g.28723316T>C, NC_000016.9:g.28734637T>A, NC_000016.9:g.28734637T>C, NM_003752.5:c.929T>A, NM_003752.5:c.929T>C, NM_003752.4:c.929T>A, NM_003752.4:c.929T>C, NM_003752.3:c.929T>A, NM_003752.3:c.929T>C, XM_017023814.3:c.929T>A, XM_017023814.3:c.929T>C, XM_017023814.2:c.929T>A, XM_017023814.2:c.929T>C, XM_017023814.1:c.929T>A, XM_017023814.1:c.929T>C, NM_001267574.2:c.929T>A, NM_001267574.2:c.929T>C, NM_001267574.1:c.929T>A, NM_001267574.1:c.929T>C, NM_001037808.2:c.929T>A, NM_001037808.2:c.929T>C, NM_001037808.1:c.929T>A, NM_001037808.1:c.929T>C, XM_047434829.1:c.-20T>A, XM_047434829.1:c.-20T>C, XM_047434828.1:c.929T>A, XM_047434828.1:c.929T>C, XM_047434827.1:c.929T>A, XM_047434827.1:c.929T>C, NM_001199142.1:c.929T>A, NM_001199142.1:c.929T>C, NM_001286478.1:c.899T>A, NM_001286478.1:c.899T>C, NP_003743.1:p.Leu310Ter, NP_003743.1:p.Leu310Ser, XP_016879303.1:p.Leu310Ter, XP_016879303.1:p.Leu310Ser, NP_001254503.1:p.Leu310Ter, NP_001254503.1:p.Leu310Ser, NP_001032897.1:p.Leu310Ter, NP_001032897.1:p.Leu310Ser, XP_047290784.1:p.Leu310Ter, XP_047290784.1:p.Leu310Ser, XP_047290783.1:p.Leu310Ter, XP_047290783.1:p.Leu310Ser, NP_001186071.1:p.Leu310Ter, NP_001186071.1:p.Leu310Ser, NP_001273407.1:p.Leu300Ter, NP_001273407.1:p.Leu300Ser

Select item 137353606020.

rs1373536060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28727210 (GRCh38)
16:28738531 (GRCh37)
Canonical SPDI:: NC_000016.10:28727209:C:T
Gene:: EIF3C (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28727210C>T, NC_000016.9:g.28738531C>T, NM_003752.5:c.1783C>T, NM_003752.4:c.1783C>T, NM_003752.3:c.1783C>T, XM_017023814.3:c.1783C>T, XM_017023814.2:c.1783C>T, XM_017023814.1:c.1783C>T, NM_001267574.2:c.1783C>T, NM_001267574.1:c.1783C>T, NM_001037808.2:c.1783C>T, NM_001037808.1:c.1783C>T, XM_047434829.1:c.835C>T, XM_047434828.1:c.1783C>T, XM_047434827.1:c.1783C>T, NM_001199142.1:c.1783C>T, NM_001286478.1:c.1753C>T, NP_003743.1:p.Gln595Ter, XP_016879303.1:p.Gln595Ter, NP_001254503.1:p.Gln595Ter, NP_001032897.1:p.Gln595Ter, XP_047290785.1:p.Gln279Ter, XP_047290784.1:p.Gln595Ter, XP_047290783.1:p.Gln595Ter, NP_001186071.1:p.Gln595Ter, NP_001273407.1:p.Gln585Ter

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