SNP Links for Protein (Select 1013070971) - SNP

Select item 14901427321.

rs1490142732 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:86021965 (GRCh38)
9:88636880 (GRCh37)
Canonical SPDI:: NC_000009.12:86021958:GAGAGAGA:GAGAGA
Gene:: NAA35 (Varview)
Functional Consequence:: 3_prime_UTR_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.86021959GA[3], NC_000009.11:g.88636874GA[3], XM_005252127.5:c.2177GA[3], XM_005252127.4:c.2177GA[3], XM_005252127.3:c.2177GA[3], XM_005252127.2:c.2177GA[3], XM_005252127.1:c.2177GA[3], NM_024635.4:c.2177GA[3], NM_024635.3:c.2177GA[3], NM_001321882.2:c.2177GA[3], NM_001321882.1:c.2177GA[3], NM_001321881.2:c.2177GA[3], NM_001321881.1:c.2177GA[3], XM_024447648.2:c.1517GA[3], XM_024447648.1:c.1517GA[3], XM_024447649.2:c.1385GA[3], XM_024447649.1:c.1385GA[3], XM_047423710.1:c.1709GA[3]

Select item 14897809502.

rs1489780950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:86013736 (GRCh38)
9:88628651 (GRCh37)
Canonical SPDI:: NC_000009.12:86013735:A:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.86013736A>G, NC_000009.11:g.88628651A>G, XM_005252127.5:c.1407A>G, XM_005252127.4:c.1407A>G, XM_005252127.3:c.1407A>G, XM_005252127.2:c.1407A>G, XM_005252127.1:c.1407A>G, NM_024635.4:c.1407A>G, NM_024635.3:c.1407A>G, NM_001321882.2:c.1407A>G, NM_001321882.1:c.1407A>G, NM_001321881.2:c.1407A>G, NM_001321881.1:c.1407A>G, XM_024447648.2:c.747A>G, XM_024447648.1:c.747A>G, XM_024447649.2:c.615A>G, XM_024447649.1:c.615A>G, XM_047423710.1:c.939A>G, NM_021929.1:c.1407A>G

Select item 14887518203.

rs1488751820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:86016563 (GRCh38)
9:88631478 (GRCh37)
Canonical SPDI:: NC_000009.12:86016562:A:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86016563A>G, NC_000009.11:g.88631478A>G, XM_005252127.5:c.1593A>G, XM_005252127.4:c.1593A>G, XM_005252127.3:c.1593A>G, XM_005252127.2:c.1593A>G, XM_005252127.1:c.1593A>G, NM_024635.4:c.1593A>G, NM_024635.3:c.1593A>G, NM_001321882.2:c.1593A>G, NM_001321882.1:c.1593A>G, NM_001321881.2:c.1593A>G, NM_001321881.1:c.1593A>G, XM_024447648.2:c.933A>G, XM_024447648.1:c.933A>G, XM_024447649.2:c.801A>G, XM_024447649.1:c.801A>G, XM_047423710.1:c.1125A>G, NM_021929.1:c.*13A>G

Select item 14882555174.

rs1488255517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:85996568 (GRCh38)
9:88611483 (GRCh37)
Canonical SPDI:: NC_000009.12:85996567:T:C
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.85996568T>C, NC_000009.11:g.88611483T>C, XM_005252127.5:c.1047T>C, XM_005252127.4:c.1047T>C, XM_005252127.3:c.1047T>C, XM_005252127.2:c.1047T>C, XM_005252127.1:c.1047T>C, NM_024635.4:c.1047T>C, NM_024635.3:c.1047T>C, NM_001321882.2:c.1047T>C, NM_001321882.1:c.1047T>C, NM_001321881.2:c.1047T>C, NM_001321881.1:c.1047T>C, XM_024447648.2:c.387T>C, XM_024447648.1:c.387T>C, XM_024447649.2:c.255T>C, XM_024447649.1:c.255T>C, XM_047423710.1:c.579T>C, NM_021929.1:c.1047T>C

Select item 14872709465.

rs1487270946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:86007445 (GRCh38)
9:88622360 (GRCh37)
Canonical SPDI:: NC_000009.12:86007444:C:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86007445C>T, NC_000009.11:g.88622360C>T, XM_005252127.5:c.1204C>T, XM_005252127.4:c.1204C>T, XM_005252127.3:c.1204C>T, XM_005252127.2:c.1204C>T, XM_005252127.1:c.1204C>T, NM_024635.4:c.1204C>T, NM_024635.3:c.1204C>T, NM_001321882.2:c.1204C>T, NM_001321882.1:c.1204C>T, NM_001321881.2:c.1204C>T, NM_001321881.1:c.1204C>T, XM_024447648.2:c.544C>T, XM_024447648.1:c.544C>T, XM_024447649.2:c.412C>T, XM_024447649.1:c.412C>T, XM_047423710.1:c.736C>T, NM_021929.1:c.1204C>T, XP_005252184.1:p.Pro402Ser, NP_078911.3:p.Pro402Ser, NP_001308811.1:p.Pro402Ser, NP_001308810.1:p.Pro402Ser, XP_024303416.1:p.Pro182Ser, XP_024303417.1:p.Pro138Ser, XP_047279666.1:p.Pro246Ser

Select item 14865695646.

rs1486569564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:86009868 (GRCh38)
9:88624783 (GRCh37)
Canonical SPDI:: NC_000009.12:86009867:C:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.86009868C>G, NC_000009.11:g.88624783C>G, XM_005252127.5:c.1227C>G, XM_005252127.4:c.1227C>G, XM_005252127.3:c.1227C>G, XM_005252127.2:c.1227C>G, XM_005252127.1:c.1227C>G, NM_024635.4:c.1227C>G, NM_024635.3:c.1227C>G, NM_001321882.2:c.1227C>G, NM_001321882.1:c.1227C>G, NM_001321881.2:c.1227C>G, NM_001321881.1:c.1227C>G, XM_024447648.2:c.567C>G, XM_024447648.1:c.567C>G, XM_024447649.2:c.435C>G, XM_024447649.1:c.435C>G, XM_047423710.1:c.759C>G, NM_021929.1:c.1227C>G, XP_005252184.1:p.Cys409Trp, NP_078911.3:p.Cys409Trp, NP_001308811.1:p.Cys409Trp, NP_001308810.1:p.Cys409Trp, XP_024303416.1:p.Cys189Trp, XP_024303417.1:p.Cys145Trp, XP_047279666.1:p.Cys253Trp

Select item 14818497827.

rs1481849782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:85977371 (GRCh38)
9:88592286 (GRCh37)
Canonical SPDI:: NC_000009.12:85977370:A:C,NC_000009.12:85977370:A:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.85977371A>C, NC_000009.12:g.85977371A>G, NC_000009.11:g.88592286A>C, NC_000009.11:g.88592286A>G, XM_005252127.5:c.687A>C, XM_005252127.5:c.687A>G, XM_005252127.4:c.687A>C, XM_005252127.4:c.687A>G, XM_005252127.3:c.687A>C, XM_005252127.3:c.687A>G, XM_005252127.2:c.687A>C, XM_005252127.2:c.687A>G, XM_005252127.1:c.687A>C, XM_005252127.1:c.687A>G, NM_024635.4:c.687A>C, NM_024635.4:c.687A>G, NM_024635.3:c.687A>C, NM_024635.3:c.687A>G, NM_001321882.2:c.687A>C, NM_001321882.2:c.687A>G, NM_001321882.1:c.687A>C, NM_001321882.1:c.687A>G, NM_001321881.2:c.687A>C, NM_001321881.2:c.687A>G, NM_001321881.1:c.687A>C, NM_001321881.1:c.687A>G, XM_024447648.2:c.27A>C, XM_024447648.2:c.27A>G, XM_024447648.1:c.27A>C, XM_024447648.1:c.27A>G, XM_024447649.2:c.-148A>C, XM_024447649.2:c.-148A>G, XM_024447649.1:c.-148A>C, XM_024447649.1:c.-148A>G, XM_047423710.1:c.219A>C, XM_047423710.1:c.219A>G, NM_021929.1:c.687A>C, NM_021929.1:c.687A>G, XP_005252184.1:p.Gln229His, NP_078911.3:p.Gln229His, NP_001308811.1:p.Gln229His, NP_001308810.1:p.Gln229His, XP_024303416.1:p.Gln9His, XP_047279666.1:p.Gln73His

Select item 14785246538.

rs1478524653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:86007426 (GRCh38)
9:88622341 (GRCh37)
Canonical SPDI:: NC_000009.12:86007425:A:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.86007426A>T, NC_000009.11:g.88622341A>T, XM_005252127.5:c.1185A>T, XM_005252127.4:c.1185A>T, XM_005252127.3:c.1185A>T, XM_005252127.2:c.1185A>T, XM_005252127.1:c.1185A>T, NM_024635.4:c.1185A>T, NM_024635.3:c.1185A>T, NM_001321882.2:c.1185A>T, NM_001321882.1:c.1185A>T, NM_001321881.2:c.1185A>T, NM_001321881.1:c.1185A>T, XM_024447648.2:c.525A>T, XM_024447648.1:c.525A>T, XM_024447649.2:c.393A>T, XM_024447649.1:c.393A>T, XM_047423710.1:c.717A>T, NM_021929.1:c.1185A>T

Select item 14780495449.

rs1478049544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:86018271 (GRCh38)
9:88633186 (GRCh37)
Canonical SPDI:: NC_000009.12:86018270:A:G,NC_000009.12:86018270:A:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.86018271A>G, NC_000009.12:g.86018271A>T, NC_000009.11:g.88633186A>G, NC_000009.11:g.88633186A>T, XM_005252127.5:c.1790A>G, XM_005252127.5:c.1790A>T, XM_005252127.4:c.1790A>G, XM_005252127.4:c.1790A>T, XM_005252127.3:c.1790A>G, XM_005252127.3:c.1790A>T, XM_005252127.2:c.1790A>G, XM_005252127.2:c.1790A>T, XM_005252127.1:c.1790A>G, XM_005252127.1:c.1790A>T, NM_024635.4:c.1790A>G, NM_024635.4:c.1790A>T, NM_024635.3:c.1790A>G, NM_024635.3:c.1790A>T, NM_001321882.2:c.1790A>G, NM_001321882.2:c.1790A>T, NM_001321882.1:c.1790A>G, NM_001321882.1:c.1790A>T, NM_001321881.2:c.1790A>G, NM_001321881.2:c.1790A>T, NM_001321881.1:c.1790A>G, NM_001321881.1:c.1790A>T, XM_024447648.2:c.1130A>G, XM_024447648.2:c.1130A>T, XM_024447648.1:c.1130A>G, XM_024447648.1:c.1130A>T, XM_024447649.2:c.998A>G, XM_024447649.2:c.998A>T, XM_024447649.1:c.998A>G, XM_024447649.1:c.998A>T, XM_047423710.1:c.1322A>G, XM_047423710.1:c.1322A>T, XP_005252184.1:p.Asp597Gly, XP_005252184.1:p.Asp597Val, NP_078911.3:p.Asp597Gly, NP_078911.3:p.Asp597Val, NP_001308811.1:p.Asp597Gly, NP_001308811.1:p.Asp597Val, NP_001308810.1:p.Asp597Gly, NP_001308810.1:p.Asp597Val, XP_024303416.1:p.Asp377Gly, XP_024303416.1:p.Asp377Val, XP_024303417.1:p.Asp333Gly, XP_024303417.1:p.Asp333Val, XP_047279666.1:p.Asp441Gly, XP_047279666.1:p.Asp441Val

Select item 147746698310.

rs1477466983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:85996399 (GRCh38)
9:88611314 (GRCh37)
Canonical SPDI:: NC_000009.12:85996398:A:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0013/6 (ALFA)
T=0.0013/6 (Estonian)
HGVS:: NC_000009.12:g.85996399A>T, NC_000009.11:g.88611314A>T, XM_005252127.5:c.878A>T, XM_005252127.4:c.878A>T, XM_005252127.3:c.878A>T, XM_005252127.2:c.878A>T, XM_005252127.1:c.878A>T, NM_024635.4:c.878A>T, NM_024635.3:c.878A>T, NM_001321882.2:c.878A>T, NM_001321882.1:c.878A>T, NM_001321881.2:c.878A>T, NM_001321881.1:c.878A>T, XM_024447648.2:c.218A>T, XM_024447648.1:c.218A>T, XM_024447649.2:c.86A>T, XM_024447649.1:c.86A>T, XM_047423710.1:c.410A>T, NM_021929.1:c.878A>T, XP_005252184.1:p.Asp293Val, NP_078911.3:p.Asp293Val, NP_001308811.1:p.Asp293Val, NP_001308810.1:p.Asp293Val, XP_024303416.1:p.Asp73Val, XP_024303417.1:p.Asp29Val, XP_047279666.1:p.Asp137Val

Select item 147675650711.

rs1476756507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:86007372 (GRCh38)
9:88622287 (GRCh37)
Canonical SPDI:: NC_000009.12:86007371:G:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86007372G>T, NC_000009.11:g.88622287G>T, XM_005252127.5:c.1131G>T, XM_005252127.4:c.1131G>T, XM_005252127.3:c.1131G>T, XM_005252127.2:c.1131G>T, XM_005252127.1:c.1131G>T, NM_024635.4:c.1131G>T, NM_024635.3:c.1131G>T, NM_001321882.2:c.1131G>T, NM_001321882.1:c.1131G>T, NM_001321881.2:c.1131G>T, NM_001321881.1:c.1131G>T, XM_024447648.2:c.471G>T, XM_024447648.1:c.471G>T, XM_024447649.2:c.339G>T, XM_024447649.1:c.339G>T, XM_047423710.1:c.663G>T, NM_021929.1:c.1131G>T

Select item 147637403912.

rs1476374039 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAG>- [Show Flanks]
Chromosome:: 9:86016672 (GRCh38)
9:88631587 (GRCh37)
Canonical SPDI:: NC_000009.12:86016667:AAAGAAAG:AAAG
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.86016668AAAG[1], NC_000009.11:g.88631583AAAG[1], XM_005252127.5:c.1702_1705del, XM_005252127.4:c.1702_1705del, XM_005252127.3:c.1702_1705del, XM_005252127.2:c.1702_1705del, XM_005252127.1:c.1702_1705del, NM_024635.4:c.1702_1705del, NM_024635.3:c.1702_1705del, NM_001321882.2:c.1702_1705del, NM_001321882.1:c.1702_1705del, NM_001321881.2:c.1702_1705del, NM_001321881.1:c.1702_1705del, XM_024447648.2:c.1042_1045del, XM_024447648.1:c.1042_1045del, XM_024447649.2:c.910_913del, XM_024447649.1:c.910_913del, XM_047423710.1:c.1234_1237del, XP_005252184.1:p.Lys568fs, NP_078911.3:p.Lys568fs, NP_001308811.1:p.Lys568fs, NP_001308810.1:p.Lys568fs, XP_024303416.1:p.Lys348fs, XP_024303417.1:p.Lys304fs, XP_047279666.1:p.Lys412fs

Select item 147452191513.

rs1474521915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:85976716 (GRCh38)
9:88591631 (GRCh37)
Canonical SPDI:: NC_000009.12:85976715:A:G
Gene:: NAA35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.85976716A>G, NC_000009.11:g.88591631A>G, XM_005252127.5:c.659A>G, XM_005252127.4:c.659A>G, XM_005252127.3:c.659A>G, XM_005252127.2:c.659A>G, XM_005252127.1:c.659A>G, NM_024635.4:c.659A>G, NM_024635.3:c.659A>G, NM_001321882.2:c.659A>G, NM_001321882.1:c.659A>G, NM_001321881.2:c.659A>G, NM_001321881.1:c.659A>G, XM_024447648.2:c.-102A>G, XM_024447648.1:c.-102A>G, XM_047423710.1:c.191A>G, NM_021929.1:c.659A>G, XP_005252184.1:p.Asp220Gly, NP_078911.3:p.Asp220Gly, NP_001308811.1:p.Asp220Gly, NP_001308810.1:p.Asp220Gly, XP_047279666.1:p.Asp64Gly

Select item 147376943414.

rs1473769434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:85959800 (GRCh38)
9:88574715 (GRCh37)
Canonical SPDI:: NC_000009.12:85959799:C:G,NC_000009.12:85959799:C:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.85959800C>G, NC_000009.12:g.85959800C>T, NC_000009.11:g.88574715C>G, NC_000009.11:g.88574715C>T, XM_005252127.5:c.281C>G, XM_005252127.5:c.281C>T, XM_005252127.4:c.281C>G, XM_005252127.4:c.281C>T, XM_005252127.3:c.281C>G, XM_005252127.3:c.281C>T, XM_005252127.2:c.281C>G, XM_005252127.2:c.281C>T, XM_005252127.1:c.281C>G, XM_005252127.1:c.281C>T, NM_024635.4:c.281C>G, NM_024635.4:c.281C>T, NM_024635.3:c.281C>G, NM_024635.3:c.281C>T, NM_001321882.2:c.281C>G, NM_001321882.2:c.281C>T, NM_001321882.1:c.281C>G, NM_001321882.1:c.281C>T, NM_001321881.2:c.281C>G, NM_001321881.2:c.281C>T, NM_001321881.1:c.281C>G, NM_001321881.1:c.281C>T, NM_021929.1:c.281C>G, NM_021929.1:c.281C>T, XP_005252184.1:p.Thr94Ser, XP_005252184.1:p.Thr94Ile, NP_078911.3:p.Thr94Ser, NP_078911.3:p.Thr94Ile, NP_001308811.1:p.Thr94Ser, NP_001308811.1:p.Thr94Ile, NP_001308810.1:p.Thr94Ser, NP_001308810.1:p.Thr94Ile

Select item 147371423515.

rs1473714235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:85962179 (GRCh38)
9:88577094 (GRCh37)
Canonical SPDI:: NC_000009.12:85962178:A:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.85962179A>G, NC_000009.11:g.88577094A>G, XM_005252127.5:c.515A>G, XM_005252127.4:c.515A>G, XM_005252127.3:c.515A>G, XM_005252127.2:c.515A>G, XM_005252127.1:c.515A>G, NM_024635.4:c.515A>G, NM_024635.3:c.515A>G, NM_001321882.2:c.515A>G, NM_001321882.1:c.515A>G, NM_001321881.2:c.515A>G, NM_001321881.1:c.515A>G, NM_021929.1:c.515A>G, XP_005252184.1:p.Glu172Gly, NP_078911.3:p.Glu172Gly, NP_001308811.1:p.Glu172Gly, NP_001308810.1:p.Glu172Gly

Select item 147336814516.

rs1473368145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:86007456 (GRCh38)
9:88622371 (GRCh37)
Canonical SPDI:: NC_000009.12:86007455:T:G
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.86007456T>G, NC_000009.11:g.88622371T>G, XM_005252127.5:c.1215T>G, XM_005252127.4:c.1215T>G, XM_005252127.3:c.1215T>G, XM_005252127.2:c.1215T>G, XM_005252127.1:c.1215T>G, NM_024635.4:c.1215T>G, NM_024635.3:c.1215T>G, NM_001321882.2:c.1215T>G, NM_001321882.1:c.1215T>G, NM_001321881.2:c.1215T>G, NM_001321881.1:c.1215T>G, XM_024447648.2:c.555T>G, XM_024447648.1:c.555T>G, XM_024447649.2:c.423T>G, XM_024447649.1:c.423T>G, XM_047423710.1:c.747T>G, NM_021929.1:c.1215T>G

Select item 147326615917.

rs1473266159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:86017520 (GRCh38)
9:88632435 (GRCh37)
Canonical SPDI:: NC_000009.12:86017519:C:A
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86017520C>A, NC_000009.11:g.88632435C>A, XM_005252127.5:c.1728C>A, XM_005252127.4:c.1728C>A, XM_005252127.3:c.1728C>A, XM_005252127.2:c.1728C>A, XM_005252127.1:c.1728C>A, NM_024635.4:c.1728C>A, NM_024635.3:c.1728C>A, NM_001321882.2:c.1728C>A, NM_001321882.1:c.1728C>A, NM_001321881.2:c.1728C>A, NM_001321881.1:c.1728C>A, XM_024447648.2:c.1068C>A, XM_024447648.1:c.1068C>A, XM_024447649.2:c.936C>A, XM_024447649.1:c.936C>A, XM_047423710.1:c.1260C>A

Select item 147175242418.

rs1471752424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:86018739 (GRCh38)
9:88633654 (GRCh37)
Canonical SPDI:: NC_000009.12:86018738:C:G,NC_000009.12:86018738:C:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86018739C>G, NC_000009.12:g.86018739C>T, NC_000009.11:g.88633654C>G, NC_000009.11:g.88633654C>T, XM_005252127.5:c.1955C>G, XM_005252127.5:c.1955C>T, XM_005252127.4:c.1955C>G, XM_005252127.4:c.1955C>T, XM_005252127.3:c.1955C>G, XM_005252127.3:c.1955C>T, XM_005252127.2:c.1955C>G, XM_005252127.2:c.1955C>T, XM_005252127.1:c.1955C>G, XM_005252127.1:c.1955C>T, NM_024635.4:c.1955C>G, NM_024635.4:c.1955C>T, NM_024635.3:c.1955C>G, NM_024635.3:c.1955C>T, NM_001321882.2:c.1955C>G, NM_001321882.2:c.1955C>T, NM_001321882.1:c.1955C>G, NM_001321882.1:c.1955C>T, NM_001321881.2:c.1955C>G, NM_001321881.2:c.1955C>T, NM_001321881.1:c.1955C>G, NM_001321881.1:c.1955C>T, XM_024447648.2:c.1295C>G, XM_024447648.2:c.1295C>T, XM_024447648.1:c.1295C>G, XM_024447648.1:c.1295C>T, XM_024447649.2:c.1163C>G, XM_024447649.2:c.1163C>T, XM_024447649.1:c.1163C>G, XM_024447649.1:c.1163C>T, XM_047423710.1:c.1487C>G, XM_047423710.1:c.1487C>T, XP_005252184.1:p.Ser652Cys, XP_005252184.1:p.Ser652Phe, NP_078911.3:p.Ser652Cys, NP_078911.3:p.Ser652Phe, NP_001308811.1:p.Ser652Cys, NP_001308811.1:p.Ser652Phe, NP_001308810.1:p.Ser652Cys, NP_001308810.1:p.Ser652Phe, XP_024303416.1:p.Ser432Cys, XP_024303416.1:p.Ser432Phe, XP_024303417.1:p.Ser388Cys, XP_024303417.1:p.Ser388Phe, XP_047279666.1:p.Ser496Cys, XP_047279666.1:p.Ser496Phe

Select item 147000394919.

rs1470003949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:85996406 (GRCh38)
9:88611321 (GRCh37)
Canonical SPDI:: NC_000009.12:85996405:A:T
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.85996406A>T, NC_000009.11:g.88611321A>T, XM_005252127.5:c.885A>T, XM_005252127.4:c.885A>T, XM_005252127.3:c.885A>T, XM_005252127.2:c.885A>T, XM_005252127.1:c.885A>T, NM_024635.4:c.885A>T, NM_024635.3:c.885A>T, NM_001321882.2:c.885A>T, NM_001321882.1:c.885A>T, NM_001321881.2:c.885A>T, NM_001321881.1:c.885A>T, XM_024447648.2:c.225A>T, XM_024447648.1:c.225A>T, XM_024447649.2:c.93A>T, XM_024447649.1:c.93A>T, XM_047423710.1:c.417A>T, NM_021929.1:c.885A>T

Select item 146982838320.

rs1469828383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:85996537 (GRCh38)
9:88611452 (GRCh37)
Canonical SPDI:: NC_000009.12:85996536:T:C
Gene:: NAA35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.85996537T>C, NC_000009.11:g.88611452T>C, XM_005252127.5:c.1016T>C, XM_005252127.4:c.1016T>C, XM_005252127.3:c.1016T>C, XM_005252127.2:c.1016T>C, XM_005252127.1:c.1016T>C, NM_024635.4:c.1016T>C, NM_024635.3:c.1016T>C, NM_001321882.2:c.1016T>C, NM_001321882.1:c.1016T>C, NM_001321881.2:c.1016T>C, NM_001321881.1:c.1016T>C, XM_024447648.2:c.356T>C, XM_024447648.1:c.356T>C, XM_024447649.2:c.224T>C, XM_024447649.1:c.224T>C, XM_047423710.1:c.548T>C, NM_021929.1:c.1016T>C, XP_005252184.1:p.Val339Ala, NP_078911.3:p.Val339Ala, NP_001308811.1:p.Val339Ala, NP_001308810.1:p.Val339Ala, XP_024303416.1:p.Val119Ala, XP_024303417.1:p.Val75Ala, XP_047279666.1:p.Val183Ala

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 465

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 465

Page of 24

Page of 24

Display Settings:

Supplemental Content

Find related data

Recent activity