SNP Links for Protein (Select 7705823) - SNP

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Links from Protein

Items: 1 to 20 of 180

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Select item 14889931851.

rs1488993185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:20026858 (GRCh38)
20:20007502 (GRCh37)
Canonical SPDI:: NC_000020.11:20026857:G:C
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.20026858G>C, NC_000020.10:g.20007502G>C, NM_016100.5:c.244G>C, NM_016100.4:c.244G>C, NM_181527.3:c.208G>C, NM_181528.3:c.244G>C, NP_057184.1:p.Glu82Gln, NP_852668.1:p.Glu70Gln, NP_852669.1:p.Glu82Gln

Select item 14872857102.

rs1487285710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:20032574 (GRCh38)
20:20013218 (GRCh37)
Canonical SPDI:: NC_000020.11:20032573:G:A
Gene:: NAA20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20032574G>A, NC_000020.10:g.20013218G>A, NM_016100.5:c.372G>A, NM_016100.4:c.372G>A, NM_181527.3:c.336G>A

Select item 14817887703.

rs1481788770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:20026831 (GRCh38)
20:20007475 (GRCh37)
Canonical SPDI:: NC_000020.11:20026830:C:G
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20026831C>G, NC_000020.10:g.20007475C>G, NM_016100.5:c.217C>G, NM_016100.4:c.217C>G, NM_181527.3:c.181C>G, NM_181528.3:c.217C>G, NP_057184.1:p.His73Asp, NP_852668.1:p.His61Asp, NP_852669.1:p.His73Asp

Select item 14760958454.

rs1476095845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:20025733 (GRCh38)
20:20006377 (GRCh37)
Canonical SPDI:: NC_000020.11:20025732:T:C
Gene:: NAA20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.20025733T>C, NC_000020.10:g.20006377T>C, NM_016100.5:c.135T>C, NM_016100.4:c.135T>C, NM_181527.3:c.99T>C, NM_181528.3:c.135T>C

Select item 14760417275.

rs1476041727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:20022459 (GRCh38)
20:20003103 (GRCh37)
Canonical SPDI:: NC_000020.11:20022458:C:T
Gene:: NAA20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.20022459C>T, NC_000020.10:g.20003103C>T, NM_016100.5:c.57C>T, NM_016100.4:c.57C>T, NM_181527.3:c.21C>T, NM_181528.3:c.57C>T

Select item 14751497576.

rs1475149757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:20032560 (GRCh38)
20:20013204 (GRCh37)
Canonical SPDI:: NC_000020.11:20032559:G:C
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.20032560G>C, NC_000020.10:g.20013204G>C, NM_016100.5:c.358G>C, NM_016100.4:c.358G>C, NM_181527.3:c.322G>C, NP_057184.1:p.Val120Leu, NP_852668.1:p.Val108Leu

Select item 14653005867.

rs1465300586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:20033179 (GRCh38)
20:20013823 (GRCh37)
Canonical SPDI:: NC_000020.11:20033178:A:G
Gene:: NAA20 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20033179A>G, NC_000020.10:g.20013823A>G, NM_016100.5:c.529A>G, NM_016100.4:c.529A>G, NM_181527.3:c.493A>G, NM_181528.3:c.*47A>G, NP_057184.1:p.Ile177Val, NP_852668.1:p.Ile165Val

Select item 14638640468.

rs1463864046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:20026870 (GRCh38)
20:20007514 (GRCh37)
Canonical SPDI:: NC_000020.11:20026869:C:T
Gene:: NAA20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20026870C>T, NC_000020.10:g.20007514C>T, NM_016100.5:c.256C>T, NM_016100.4:c.256C>T, NM_181527.3:c.220C>T, NM_181528.3:c.256C>T, NP_057184.1:p.Leu86Phe, NP_852668.1:p.Leu74Phe, NP_852669.1:p.Leu86Phe

Select item 14542043049.

rs1454204304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:20026892 (GRCh38)
20:20007536 (GRCh37)
Canonical SPDI:: NC_000020.11:20026891:T:C
Gene:: NAA20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20026892T>C, NC_000020.10:g.20007536T>C, NM_016100.5:c.278T>C, NM_016100.4:c.278T>C, NM_181527.3:c.242T>C, NM_181528.3:c.278T>C, NP_057184.1:p.Met93Thr, NP_852668.1:p.Met81Thr, NP_852669.1:p.Met93Thr

Select item 145384553510.

rs1453845535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:20032516 (GRCh38)
20:20013160 (GRCh37)
Canonical SPDI:: NC_000020.11:20032515:G:A,NC_000020.11:20032515:G:T
Gene:: NAA20 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.20032516G>A, NC_000020.11:g.20032516G>T, NC_000020.10:g.20013160G>A, NC_000020.10:g.20013160G>T, NM_016100.5:c.314G>A, NM_016100.5:c.314G>T, NM_016100.4:c.314G>A, NM_016100.4:c.314G>T, NM_181527.3:c.278G>A, NM_181527.3:c.278G>T, NP_057184.1:p.Gly105Glu, NP_057184.1:p.Gly105Val, NP_852668.1:p.Gly93Glu, NP_852668.1:p.Gly93Val

Select item 145195027611.

rs1451950276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:20026855 (GRCh38)
20:20007499 (GRCh37)
Canonical SPDI:: NC_000020.11:20026854:C:G,NC_000020.11:20026854:C:T
Gene:: NAA20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.20026855C>G, NC_000020.11:g.20026855C>T, NC_000020.10:g.20007499C>G, NC_000020.10:g.20007499C>T, NM_016100.5:c.241C>G, NM_016100.5:c.241C>T, NM_016100.4:c.241C>G, NM_016100.4:c.241C>T, NM_181527.3:c.205C>G, NM_181527.3:c.205C>T, NM_181528.3:c.241C>G, NM_181528.3:c.241C>T, NP_057184.1:p.Pro81Ala, NP_057184.1:p.Pro81Ser, NP_852668.1:p.Pro69Ala, NP_852668.1:p.Pro69Ser, NP_852669.1:p.Pro81Ala, NP_852669.1:p.Pro81Ser

Select item 144414373612.

rs1444143736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:20026802 (GRCh38)
20:20007446 (GRCh37)
Canonical SPDI:: NC_000020.11:20026801:G:C
Gene:: NAA20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20026802G>C, NC_000020.10:g.20007446G>C, NM_016100.5:c.188G>C, NM_016100.4:c.188G>C, NM_181527.3:c.152G>C, NM_181528.3:c.188G>C, NP_057184.1:p.Gly63Ala, NP_852668.1:p.Gly51Ala, NP_852669.1:p.Gly63Ala

Select item 143901618813.

rs1439016188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:20032607 (GRCh38)
20:20013251 (GRCh37)
Canonical SPDI:: NC_000020.11:20032606:A:C
Gene:: NAA20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20032607A>C, NC_000020.10:g.20013251A>C, NM_016100.5:c.405A>C, NM_016100.4:c.405A>C, NM_181527.3:c.369A>C

Select item 143193879914.

rs1431938799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:20033168 (GRCh38)
20:20013812 (GRCh37)
Canonical SPDI:: NC_000020.11:20033167:G:C
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_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_000020.11:g.20033168G>C, NC_000020.10:g.20013812G>C, NM_016100.5:c.518G>C, NM_016100.4:c.518G>C, NM_181527.3:c.482G>C, NM_181528.3:c.*36G>C, NP_057184.1:p.Arg173Thr, NP_852668.1:p.Arg161Thr

Select item 143179808315.

rs1431798083 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT [Show Flanks]
Chromosome:: 20:20025721 (GRCh38)
20:20006366 (GRCh37)
Canonical SPDI:: NC_000020.11:20025721:TATTT:TATTTATTT
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTATTT=0./0 (ALFA)
TATT=0.000004/1 (GnomAD_exomes)
TATT=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.20025723_20025726dup, NC_000020.10:g.20006367_20006370dup, NM_016100.5:c.125_128dup, NM_016100.4:c.125_128dup, NM_181527.3:c.89_92dup, NM_181528.3:c.125_128dup, NP_057184.1:p.Phe43fs, NP_852668.1:p.Phe31fs, NP_852669.1:p.Phe43fs

Select item 142524161016.

rs1425241610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:20025759 (GRCh38)
20:20006403 (GRCh37)
Canonical SPDI:: NC_000020.11:20025758:T:C
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.20025759T>C, NC_000020.10:g.20006403T>C, NM_016100.5:c.161T>C, NM_016100.4:c.161T>C, NM_181527.3:c.125T>C, NM_181528.3:c.161T>C, NP_057184.1:p.Met54Thr, NP_852668.1:p.Met42Thr, NP_852669.1:p.Met54Thr

Select item 141937473117.

rs1419374731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:20032535 (GRCh38)
20:20013179 (GRCh37)
Canonical SPDI:: NC_000020.11:20032534:T:C
Gene:: NAA20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000020.11:g.20032535T>C, NC_000020.10:g.20013179T>C, NM_016100.5:c.333T>C, NM_016100.4:c.333T>C, NM_181527.3:c.297T>C

Select item 141842775418.

rs1418427754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:20032600 (GRCh38)
20:20013244 (GRCh37)
Canonical SPDI:: NC_000020.11:20032599:C:T
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.20032600C>T, NC_000020.10:g.20013244C>T, NM_016100.5:c.398C>T, NM_016100.4:c.398C>T, NM_181527.3:c.362C>T, NP_057184.1:p.Thr133Met, NP_852668.1:p.Thr121Met

Select item 141247414219.

rs1412474142 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:20026843 (GRCh38)
20:20007487 (GRCh37)
Canonical SPDI:: NC_000020.11:20026840:CTCT:CT
Gene:: NAA20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.20026841CT[1], NC_000020.10:g.20007485CT[1], NM_016100.5:c.229_230del, NM_016100.4:c.229_230del, NM_181527.3:c.193_194del, NM_181528.3:c.229_230del, NP_057184.1:p.Leu77fs, NP_852668.1:p.Leu65fs, NP_852669.1:p.Leu77fs

Select item 140320383020.

rs1403203830 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:20026840 (GRCh38)
20:20007484 (GRCh37)
Canonical SPDI:: NC_000020.11:20026839:G:
Gene:: NAA20 (Varview)
Functional Consequence:: 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_000020.11:g.20026840del, NC_000020.10:g.20007484del, NM_016100.5:c.226del, NM_016100.4:c.226del, NM_181527.3:c.190del, NM_181528.3:c.226del, NP_057184.1:p.Ala76fs, NP_852668.1:p.Ala64fs, NP_852669.1:p.Ala76fs

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