SNP Links for Protein (Select 63047871) - SNP

Links from Protein

Items: 1 to 20 of 311

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Select item 14904427151.

rs1490442715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:44905550 (GRCh38)
14:45374753 (GRCh37)
Canonical SPDI:: NC_000014.9:44905549:A:C
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_lost,intron_variant,terminator_codon_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_000014.9:g.44905550A>C, NC_000014.8:g.45374753A>C, NM_001017923.2:c.933A>C, NM_001017923.1:c.933A>C, XM_011536408.1:c.453A>C, NP_001017923.1:p.Ter311Tyr, XP_011534710.1:p.Ter151Tyr

Select item 14902727312.

rs1490272731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:44900933 (GRCh38)
14:45370136 (GRCh37)
Canonical SPDI:: NC_000014.9:44900932:G:A
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44900933G>A, NC_000014.8:g.45370136G>A, NM_001017923.2:c.498G>A, NM_001017923.1:c.498G>A, XM_047430915.1:c.498G>A

Select item 14814404153.

rs1481440415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44905398 (GRCh38)
14:45374601 (GRCh37)
Canonical SPDI:: NC_000014.9:44905397:A:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.44905398A>G, NC_000014.8:g.45374601A>G, NM_001017923.2:c.781A>G, NM_001017923.1:c.781A>G, XM_011536408.1:c.301A>G, NP_001017923.1:p.Lys261Glu, XP_011534710.1:p.Lys101Glu

Select item 14810466374.

rs1481046637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:44900882 (GRCh38)
14:45370085 (GRCh37)
Canonical SPDI:: NC_000014.9:44900881:C:T
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000354/6 (TOMMO)
HGVS:: NC_000014.9:g.44900882C>T, NC_000014.8:g.45370085C>T, NM_001017923.2:c.447C>T, NM_001017923.1:c.447C>T, XM_047430915.1:c.447C>T

Select item 14805761515.

rs1480576151 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:44905491 (GRCh38)
14:45374694 (GRCh37)
Canonical SPDI:: NC_000014.9:44905490:AAA:AA
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44905493del, NC_000014.8:g.45374696del, NM_001017923.2:c.876del, NM_001017923.1:c.876del, XM_011536408.1:c.396del, NP_001017923.1:p.Lys292fs, XP_011534710.1:p.Lys132fs

Select item 14799244486.

rs1479924448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:44900894 (GRCh38)
14:45370097 (GRCh37)
Canonical SPDI:: NC_000014.9:44900893:T:C,NC_000014.9:44900893:T:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44900894T>C, NC_000014.9:g.44900894T>G, NC_000014.8:g.45370097T>C, NC_000014.8:g.45370097T>G, NM_001017923.2:c.459T>C, NM_001017923.2:c.459T>G, NM_001017923.1:c.459T>C, NM_001017923.1:c.459T>G, XM_047430915.1:c.459T>C, XM_047430915.1:c.459T>G, NP_001017923.1:p.Ser153Arg, XP_047286871.1:p.Ser153Arg

Select item 14794113107.

rs1479411310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:44900503 (GRCh38)
14:45369706 (GRCh37)
Canonical SPDI:: NC_000014.9:44900502:G:C
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.44900503G>C, NC_000014.8:g.45369706G>C, NM_001017923.2:c.68G>C, NM_001017923.1:c.68G>C, XM_047430915.1:c.68G>C, NP_001017923.1:p.Cys23Ser, XP_047286871.1:p.Cys23Ser

Select item 14788616028.

rs1478861602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:44900873 (GRCh38)
14:45370076 (GRCh37)
Canonical SPDI:: NC_000014.9:44900872:C:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.44900873C>G, NC_000014.8:g.45370076C>G, NM_001017923.2:c.438C>G, NM_001017923.1:c.438C>G, XM_047430915.1:c.438C>G

Select item 14752019879.

rs1475201987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:44900574 (GRCh38)
14:45369777 (GRCh37)
Canonical SPDI:: NC_000014.9:44900573:C:T
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44900574C>T, NC_000014.8:g.45369777C>T, NM_001017923.2:c.139C>T, NM_001017923.1:c.139C>T, XM_047430915.1:c.139C>T, NP_001017923.1:p.Leu47Phe, XP_047286871.1:p.Leu47Phe

Select item 147047386310.

rs1470473863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:44900794 (GRCh38)
14:45369997 (GRCh37)
Canonical SPDI:: NC_000014.9:44900793:C:A
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44900794C>A, NC_000014.8:g.45369997C>A, NM_001017923.2:c.359C>A, NM_001017923.1:c.359C>A, XM_047430915.1:c.359C>A, NP_001017923.1:p.Ser120Tyr, XP_047286871.1:p.Ser120Tyr

Select item 146579783811.

rs1465797838 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 14:44900547 (GRCh38)
14:45369750 (GRCh37)
Canonical SPDI:: NC_000014.9:44900546:GG:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.44900548del, NC_000014.8:g.45369751del, NM_001017923.2:c.113del, NM_001017923.1:c.113del, XM_047430915.1:c.113del, NP_001017923.1:p.Gly38fs, XP_047286871.1:p.Gly38fs

Select item 146014966212.

rs1460149662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44900770 (GRCh38)
14:45369973 (GRCh37)
Canonical SPDI:: NC_000014.9:44900769:A:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44900770A>G, NC_000014.8:g.45369973A>G, NM_001017923.2:c.335A>G, NM_001017923.1:c.335A>G, XM_047430915.1:c.335A>G, NP_001017923.1:p.Lys112Arg, XP_047286871.1:p.Lys112Arg

Select item 145996790213.

rs1459967902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:44900903 (GRCh38)
14:45370106 (GRCh37)
Canonical SPDI:: NC_000014.9:44900902:C:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44900903C>G, NC_000014.8:g.45370106C>G, NM_001017923.2:c.468C>G, NM_001017923.1:c.468C>G, XM_047430915.1:c.468C>G

Select item 145814134514.

rs1458141345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44904487 (GRCh38)
14:45373690 (GRCh37)
Canonical SPDI:: NC_000014.9:44904486:A:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44904487A>G, NC_000014.8:g.45373690A>G, NM_001017923.2:c.707A>G, NM_001017923.1:c.707A>G, XM_011536408.1:c.227A>G, NP_001017923.1:p.Asp236Gly, XP_011534710.1:p.Asp76Gly

Select item 145808421015.

rs1458084210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:44903284 (GRCh38)
14:45372487 (GRCh37)
Canonical SPDI:: NC_000014.9:44903283:G:A
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: missense_variant,intron_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_000014.9:g.44903284G>A, NC_000014.8:g.45372487G>A, NM_001017923.2:c.602G>A, NM_001017923.1:c.602G>A, XM_011536408.1:c.31G>A, XM_047430915.1:c.602G>A, NP_001017923.1:p.Cys201Tyr, XP_011534710.1:p.Val11Met, XP_047286871.1:p.Cys201Tyr

Select item 145561249316.

rs1455612493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44905388 (GRCh38)
14:45374591 (GRCh37)
Canonical SPDI:: NC_000014.9:44905387:A:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44905388A>G, NC_000014.8:g.45374591A>G, NM_001017923.2:c.771A>G, NM_001017923.1:c.771A>G, XM_011536408.1:c.291A>G

Select item 145482857817.

rs1454828578 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATAAA>- [Show Flanks]
Chromosome:: 14:44900954 (GRCh38)
14:45370157 (GRCh37)
Canonical SPDI:: NC_000014.9:44900951:AATATAAA:AA
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44900954_44900959del, NC_000014.8:g.45370157_45370162del, NM_001017923.2:c.520_525del, NM_001017923.1:c.520_525del, XM_047430915.1:c.520_525del, NP_001017923.1:p.172IN[1], XP_047286871.1:p.172IN[1]

Select item 145471272118.

rs1454712721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:44903224 (GRCh38)
14:45372427 (GRCh37)
Canonical SPDI:: NC_000014.9:44903223:C:G,NC_000014.9:44903223:C:T
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.44903224C>G, NC_000014.9:g.44903224C>T, NC_000014.8:g.45372427C>G, NC_000014.8:g.45372427C>T, NM_001017923.2:c.542C>G, NM_001017923.2:c.542C>T, NM_001017923.1:c.542C>G, NM_001017923.1:c.542C>T, XM_011536408.1:c.-30C>G, XM_011536408.1:c.-30C>T, XM_047430915.1:c.542C>G, XM_047430915.1:c.542C>T, NP_001017923.1:p.Pro181Arg, NP_001017923.1:p.Pro181Leu, XP_047286871.1:p.Pro181Arg, XP_047286871.1:p.Pro181Leu

Select item 144769858819.

rs1447698588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:44905427 (GRCh38)
14:45374630 (GRCh37)
Canonical SPDI:: NC_000014.9:44905426:C:A
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.44905427C>A, NC_000014.8:g.45374630C>A, NM_001017923.2:c.810C>A, NM_001017923.1:c.810C>A, XM_011536408.1:c.330C>A, NP_001017923.1:p.Phe270Leu, XP_011534710.1:p.Phe110Leu

Select item 144215672420.

rs1442156724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44900465 (GRCh38)
14:45369668 (GRCh37)
Canonical SPDI:: NC_000014.9:44900464:A:G
Gene:: C14orf28 (Varview), LOC101927418 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44900465A>G, NC_000014.8:g.45369668A>G, NM_001017923.2:c.30A>G, NM_001017923.1:c.30A>G, XM_047430915.1:c.30A>G

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