SNP Links for Protein (Select 961441525) - SNP

Links from Protein

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Select item 14872765591.

rs1487276559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:28391818 (GRCh38)
16:28403139 (GRCh37)
Canonical SPDI:: NC_000016.10:28391817:G:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.28391818G>C, NC_000016.9:g.28403139G>C, XM_017023620.3:c.977C>G, XM_017023620.2:c.977C>G, XM_017023620.1:c.977C>G, NM_001099661.2:c.977C>G, NM_001099661.1:c.977C>G, NM_001317857.2:c.977C>G, NM_001317857.1:c.977C>G, XM_017023621.2:c.26C>G, XM_017023621.1:c.26C>G, XM_047434558.1:c.977C>G, NM_001317856.1:c.977C>G, XP_016879109.1:p.Thr326Ser, NP_001093131.1:p.Thr326Ser, NP_001304786.1:p.Thr326Ser, XP_016879110.1:p.Thr9Ser, XP_047290514.1:p.Thr326Ser, NP_001304785.1:p.Thr326Ser

Select item 14731188362.

rs1473118836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28391794 (GRCh38)
16:28403115 (GRCh37)
Canonical SPDI:: NC_000016.10:28391793:A:G
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.28391794A>G, NC_000016.9:g.28403115A>G, XM_017023620.3:c.1001T>C, XM_017023620.2:c.1001T>C, XM_017023620.1:c.1001T>C, NM_001099661.2:c.1001T>C, NM_001099661.1:c.1001T>C, NM_001317857.2:c.1001T>C, NM_001317857.1:c.1001T>C, XM_017023621.2:c.50T>C, XM_017023621.1:c.50T>C, XM_047434558.1:c.1001T>C, NM_001317856.1:c.1001T>C, XP_016879109.1:p.Leu334Pro, NP_001093131.1:p.Leu334Pro, NP_001304786.1:p.Leu334Pro, XP_016879110.1:p.Leu17Pro, XP_047290514.1:p.Leu334Pro, NP_001304785.1:p.Leu334Pro

Select item 14723721063.

rs1472372106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28391846 (GRCh38)
16:28403167 (GRCh37)
Canonical SPDI:: NC_000016.10:28391845:T:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.28391846T>C, NC_000016.9:g.28403167T>C, XM_017023620.3:c.949A>G, XM_017023620.2:c.949A>G, XM_017023620.1:c.949A>G, NM_001099661.2:c.949A>G, NM_001099661.1:c.949A>G, NM_001317857.2:c.949A>G, NM_001317857.1:c.949A>G, XM_017023621.2:c.-3A>G, XM_017023621.1:c.-3A>G, XM_047434558.1:c.949A>G, NM_001317856.1:c.949A>G, XP_016879109.1:p.Lys317Glu, NP_001093131.1:p.Lys317Glu, NP_001304786.1:p.Lys317Glu, XP_047290514.1:p.Lys317Glu, NP_001304785.1:p.Lys317Glu

Select item 14719623704.

rs1471962370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28391991 (GRCh38)
16:28403312 (GRCh37)
Canonical SPDI:: NC_000016.10:28391990:G:A
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.28391991G>A, NC_000016.9:g.28403312G>A, XM_017023620.3:c.928C>T, XM_017023620.2:c.928C>T, XM_017023620.1:c.928C>T, NM_001099661.2:c.928C>T, NM_001099661.1:c.928C>T, NM_001317857.2:c.928C>T, NM_001317857.1:c.928C>T, XM_017023621.2:c.-24C>T, XM_017023621.1:c.-24C>T, XM_047434558.1:c.928C>T, NM_001317856.1:c.928C>T, XP_016879109.1:p.Pro310Ser, NP_001093131.1:p.Pro310Ser, NP_001304786.1:p.Pro310Ser, XP_047290514.1:p.Pro310Ser, NP_001304785.1:p.Pro310Ser

Select item 14691024255.

rs1469102425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:28392129 (GRCh38)
16:28403450 (GRCh37)
Canonical SPDI:: NC_000016.10:28392128:C:G
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.28392129C>G, NC_000016.9:g.28403450C>G, XM_017023620.3:c.790G>C, XM_017023620.2:c.790G>C, XM_017023620.1:c.790G>C, NM_001099661.2:c.790G>C, NM_001099661.1:c.790G>C, NM_001317857.2:c.790G>C, NM_001317857.1:c.790G>C, XM_017023621.2:c.-162G>C, XM_017023621.1:c.-162G>C, XM_047434558.1:c.790G>C, NM_001317856.1:c.790G>C, XP_016879109.1:p.Asp264His, NP_001093131.1:p.Asp264His, NP_001304786.1:p.Asp264His, XP_047290514.1:p.Asp264His, NP_001304785.1:p.Asp264His

Select item 14641924496.

rs1464192449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:28391759 (GRCh38)
16:28403080 (GRCh37)
Canonical SPDI:: NC_000016.10:28391758:T:A
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28391759T>A, NC_000016.9:g.28403080T>A, XM_017023620.3:c.1036A>T, XM_017023620.2:c.1036A>T, XM_017023620.1:c.1036A>T, NM_001099661.2:c.1036A>T, NM_001099661.1:c.1036A>T, NM_001317857.2:c.1036A>T, NM_001317857.1:c.1036A>T, XM_017023621.2:c.85A>T, XM_017023621.1:c.85A>T, XM_047434558.1:c.1036A>T, NM_001317856.1:c.1036A>T, XP_016879109.1:p.Thr346Ser, NP_001093131.1:p.Thr346Ser, NP_001304786.1:p.Thr346Ser, XP_016879110.1:p.Thr29Ser, XP_047290514.1:p.Thr346Ser, NP_001304785.1:p.Thr346Ser

Select item 14639354937.

rs1463935493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28388117 (GRCh38)
16:28399438 (GRCh37)
Canonical SPDI:: NC_000016.10:28388116:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28388117C>T, NC_000016.9:g.28399438C>T, XM_017023620.3:c.1762G>A, XM_017023620.2:c.1762G>A, XM_017023620.1:c.1762G>A, NM_001099661.2:c.1762G>A, NM_001099661.1:c.1762G>A, NM_001317857.2:c.1762G>A, NM_001317857.1:c.1762G>A, XM_017023621.2:c.811G>A, XM_017023621.1:c.811G>A, XM_047434558.1:c.1762G>A, NM_001317856.1:c.1762G>A, XP_016879109.1:p.Asp588Asn, NP_001093131.1:p.Asp588Asn, NP_001304786.1:p.Asp588Asn, XP_016879110.1:p.Asp271Asn, XP_047290514.1:p.Asp588Asn, NP_001304785.1:p.Asp588Asn

Select item 14615904548.

rs1461590454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28388207 (GRCh38)
16:28399528 (GRCh37)
Canonical SPDI:: NC_000016.10:28388206:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.28388207C>T, NC_000016.9:g.28399528C>T, XM_017023620.3:c.1672G>A, XM_017023620.2:c.1672G>A, XM_017023620.1:c.1672G>A, NM_001099661.2:c.1672G>A, NM_001099661.1:c.1672G>A, NM_001317857.2:c.1672G>A, NM_001317857.1:c.1672G>A, XM_017023621.2:c.721G>A, XM_017023621.1:c.721G>A, XM_047434558.1:c.1672G>A, NM_001317856.1:c.1672G>A, XP_016879109.1:p.Ala558Thr, NP_001093131.1:p.Ala558Thr, NP_001304786.1:p.Ala558Thr, XP_016879110.1:p.Ala241Thr, XP_047290514.1:p.Ala558Thr, NP_001304785.1:p.Ala558Thr

Select item 14569564269.

rs1456956426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28391800 (GRCh38)
16:28403121 (GRCh37)
Canonical SPDI:: NC_000016.10:28391799:T:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28391800T>C, NC_000016.9:g.28403121T>C, XM_017023620.3:c.995A>G, XM_017023620.2:c.995A>G, XM_017023620.1:c.995A>G, NM_001099661.2:c.995A>G, NM_001099661.1:c.995A>G, NM_001317857.2:c.995A>G, NM_001317857.1:c.995A>G, XM_017023621.2:c.44A>G, XM_017023621.1:c.44A>G, XM_047434558.1:c.995A>G, NM_001317856.1:c.995A>G, XP_016879109.1:p.Lys332Arg, NP_001093131.1:p.Lys332Arg, NP_001304786.1:p.Lys332Arg, XP_016879110.1:p.Lys15Arg, XP_047290514.1:p.Lys332Arg, NP_001304785.1:p.Lys332Arg

Select item 144845716310.

rs1448457163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28388244 (GRCh38)
16:28399565 (GRCh37)
Canonical SPDI:: NC_000016.10:28388243:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.0022/17 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28388244C>T, NC_000016.9:g.28399565C>T, XM_017023620.3:c.1635G>A, XM_017023620.2:c.1635G>A, XM_017023620.1:c.1635G>A, NM_001099661.2:c.1635G>A, NM_001099661.1:c.1635G>A, NM_001317857.2:c.1635G>A, NM_001317857.1:c.1635G>A, XM_017023621.2:c.684G>A, XM_017023621.1:c.684G>A, XM_047434558.1:c.1635G>A, NM_001317856.1:c.1635G>A

Select item 144690680811.

rs1446906808 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:28392041 (GRCh38)
16:28403362 (GRCh37)
Canonical SPDI:: NC_000016.10:28392040:T:
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.28392041del, NC_000016.9:g.28403362del, XM_017023620.3:c.878del, XM_017023620.2:c.878del, XM_017023620.1:c.878del, NM_001099661.2:c.878del, NM_001099661.1:c.878del, NM_001317857.2:c.878del, NM_001317857.1:c.878del, XM_017023621.2:c.-74del, XM_017023621.1:c.-74del, XM_047434558.1:c.878del, NM_001317856.1:c.878del, XP_016879109.1:p.Glu293fs, NP_001093131.1:p.Glu293fs, NP_001304786.1:p.Glu293fs, XP_047290514.1:p.Glu293fs, NP_001304785.1:p.Glu293fs

Select item 144104646012.

rs1441046460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28392051 (GRCh38)
16:28403372 (GRCh37)
Canonical SPDI:: NC_000016.10:28392050:C:T
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.28392051C>T, NC_000016.9:g.28403372C>T, XM_017023620.3:c.868G>A, XM_017023620.2:c.868G>A, XM_017023620.1:c.868G>A, NM_001099661.2:c.868G>A, NM_001099661.1:c.868G>A, NM_001317857.2:c.868G>A, NM_001317857.1:c.868G>A, XM_017023621.2:c.-84G>A, XM_017023621.1:c.-84G>A, XM_047434558.1:c.868G>A, NM_001317856.1:c.868G>A, XP_016879109.1:p.Asp290Asn, NP_001093131.1:p.Asp290Asn, NP_001304786.1:p.Asp290Asn, XP_047290514.1:p.Asp290Asn, NP_001304785.1:p.Asp290Asn

Select item 143240890913.

rs1432408909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:28392138 (GRCh38)
16:28403459 (GRCh37)
Canonical SPDI:: NC_000016.10:28392137:G:A,NC_000016.10:28392137:G:T
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28392138G>A, NC_000016.10:g.28392138G>T, NC_000016.9:g.28403459G>A, NC_000016.9:g.28403459G>T, XM_017023620.3:c.781C>T, XM_017023620.3:c.781C>A, XM_017023620.2:c.781C>T, XM_017023620.2:c.781C>A, XM_017023620.1:c.781C>T, XM_017023620.1:c.781C>A, NM_001099661.2:c.781C>T, NM_001099661.2:c.781C>A, NM_001099661.1:c.781C>T, NM_001099661.1:c.781C>A, NM_001317857.2:c.781C>T, NM_001317857.2:c.781C>A, NM_001317857.1:c.781C>T, NM_001317857.1:c.781C>A, XM_017023621.2:c.-171C>T, XM_017023621.2:c.-171C>A, XM_017023621.1:c.-171C>T, XM_017023621.1:c.-171C>A, XM_047434558.1:c.781C>T, XM_047434558.1:c.781C>A, NM_001317856.1:c.781C>T, NM_001317856.1:c.781C>A, XP_016879109.1:p.Pro261Ser, XP_016879109.1:p.Pro261Thr, NP_001093131.1:p.Pro261Ser, NP_001093131.1:p.Pro261Thr, NP_001304786.1:p.Pro261Ser, NP_001304786.1:p.Pro261Thr, XP_047290514.1:p.Pro261Ser, XP_047290514.1:p.Pro261Thr, NP_001304785.1:p.Pro261Ser, NP_001304785.1:p.Pro261Thr

Select item 143085059814.

rs1430850598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28388656 (GRCh38)
16:28399977 (GRCh37)
Canonical SPDI:: NC_000016.10:28388655:A:G
Gene:: EIF3CL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.28388656A>G, NC_000016.9:g.28399977A>G, XM_017023620.3:c.1448T>C, XM_017023620.2:c.1448T>C, XM_017023620.1:c.1448T>C, NM_001099661.2:c.1448T>C, NM_001099661.1:c.1448T>C, NM_001317857.2:c.1448T>C, NM_001317857.1:c.1448T>C, XM_017023621.2:c.497T>C, XM_017023621.1:c.497T>C, XM_047434558.1:c.1448T>C, NM_001317856.1:c.1448T>C, XP_016879109.1:p.Ile483Thr, NP_001093131.1:p.Ile483Thr, NP_001304786.1:p.Ile483Thr, XP_016879110.1:p.Ile166Thr, XP_047290514.1:p.Ile483Thr, NP_001304785.1:p.Ile483Thr

Select item 142408506415.

rs1424085064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28383125 (GRCh38)
16:28394446 (GRCh37)
Canonical SPDI:: NC_000016.10:28383124:G:A
Gene:: EIF3CL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.07102/254 (TOMMO)
A=0.14804/53 (KOREAN)
HGVS:: NC_000016.10:g.28383125G>A, NC_000016.9:g.28394446G>A, XM_017023620.3:c.2178C>T, XM_017023620.2:c.2178C>T, XM_017023620.1:c.2178C>T, NM_001099661.2:c.2178C>T, NM_001099661.1:c.2178C>T, NM_001317857.2:c.2178C>T, NM_001317857.1:c.2178C>T, XM_017023621.2:c.1227C>T, XM_017023621.1:c.1227C>T, XM_047434558.1:c.2178C>T, NM_001317856.1:c.2178C>T

Select item 142287793116.

rs1422877931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:28392119 (GRCh38)
16:28403440 (GRCh37)
Canonical SPDI:: NC_000016.10:28392118:T:C,NC_000016.10:28392118:T:G
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.28392119T>C, NC_000016.10:g.28392119T>G, NC_000016.9:g.28403440T>C, NC_000016.9:g.28403440T>G, XM_017023620.3:c.800A>G, XM_017023620.3:c.800A>C, XM_017023620.2:c.800A>G, XM_017023620.2:c.800A>C, XM_017023620.1:c.800A>G, XM_017023620.1:c.800A>C, NM_001099661.2:c.800A>G, NM_001099661.2:c.800A>C, NM_001099661.1:c.800A>G, NM_001099661.1:c.800A>C, NM_001317857.2:c.800A>G, NM_001317857.2:c.800A>C, NM_001317857.1:c.800A>G, NM_001317857.1:c.800A>C, XM_017023621.2:c.-152A>G, XM_017023621.2:c.-152A>C, XM_017023621.1:c.-152A>G, XM_017023621.1:c.-152A>C, XM_047434558.1:c.800A>G, XM_047434558.1:c.800A>C, NM_001317856.1:c.800A>G, NM_001317856.1:c.800A>C, XP_016879109.1:p.Lys267Arg, XP_016879109.1:p.Lys267Thr, NP_001093131.1:p.Lys267Arg, NP_001093131.1:p.Lys267Thr, NP_001304786.1:p.Lys267Arg, NP_001304786.1:p.Lys267Thr, XP_047290514.1:p.Lys267Arg, XP_047290514.1:p.Lys267Thr, NP_001304785.1:p.Lys267Arg, NP_001304785.1:p.Lys267Thr

Select item 141509835317.

rs1415098353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:28403577 (GRCh38)
16:28414898 (GRCh37)
Canonical SPDI:: NC_000016.10:28403576:C:G
Gene:: EIF3CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000016.10:g.28403577C>G, NC_000016.9:g.28414898C>G, XM_017023620.3:c.42G>C, XM_017023620.2:c.42G>C, XM_017023620.1:c.42G>C, NM_001099661.2:c.42G>C, NM_001099661.1:c.42G>C, NM_001317857.2:c.42G>C, NM_001317857.1:c.42G>C, XM_047434558.1:c.42G>C, NM_001317856.1:c.42G>C, XP_016879109.1:p.Glu14Asp, NP_001093131.1:p.Glu14Asp, NP_001304786.1:p.Glu14Asp, XP_047290514.1:p.Glu14Asp, NP_001304785.1:p.Glu14Asp

Select item 141424690318.

rs1414246903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28392097 (GRCh38)
16:28403418 (GRCh37)
Canonical SPDI:: NC_000016.10:28392096:C:T
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28392097C>T, NC_000016.9:g.28403418C>T, XM_017023620.3:c.822G>A, XM_017023620.2:c.822G>A, XM_017023620.1:c.822G>A, NM_001099661.2:c.822G>A, NM_001099661.1:c.822G>A, NM_001317857.2:c.822G>A, NM_001317857.1:c.822G>A, XM_017023621.2:c.-130G>A, XM_017023621.1:c.-130G>A, XM_047434558.1:c.822G>A, NM_001317856.1:c.822G>A

Select item 141042295619.

rs1410422956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28392030 (GRCh38)
16:28403351 (GRCh37)
Canonical SPDI:: NC_000016.10:28392029:T:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.28392030T>C, NC_000016.9:g.28403351T>C, XM_017023620.3:c.889A>G, XM_017023620.2:c.889A>G, XM_017023620.1:c.889A>G, NM_001099661.2:c.889A>G, NM_001099661.1:c.889A>G, NM_001317857.2:c.889A>G, NM_001317857.1:c.889A>G, XM_017023621.2:c.-63A>G, XM_017023621.1:c.-63A>G, XM_047434558.1:c.889A>G, NM_001317856.1:c.889A>G, XP_016879109.1:p.Asn297Asp, NP_001093131.1:p.Asn297Asp, NP_001304786.1:p.Asn297Asp, XP_047290514.1:p.Asn297Asp, NP_001304785.1:p.Asn297Asp

Select item 141017069920.

rs1410170699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:28391798 (GRCh38)
16:28403119 (GRCh37)
Canonical SPDI:: NC_000016.10:28391797:T:G
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28391798T>G, NC_000016.9:g.28403119T>G, XM_017023620.3:c.997A>C, XM_017023620.2:c.997A>C, XM_017023620.1:c.997A>C, NM_001099661.2:c.997A>C, NM_001099661.1:c.997A>C, NM_001317857.2:c.997A>C, NM_001317857.1:c.997A>C, XM_017023621.2:c.46A>C, XM_017023621.1:c.46A>C, XM_047434558.1:c.997A>C, NM_001317856.1:c.997A>C, XP_016879109.1:p.Lys333Gln, NP_001093131.1:p.Lys333Gln, NP_001304786.1:p.Lys333Gln, XP_016879110.1:p.Lys16Gln, XP_047290514.1:p.Lys333Gln, NP_001304785.1:p.Lys333Gln

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