SNP Links for Protein (Select 1060099145) - SNP

Links from Protein

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Select item 14902216311.

rs1490221631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:75234737 (GRCh38)
17:73230832 (GRCh37)
Canonical SPDI:: NC_000017.11:75234736:T:C,NC_000017.11:75234736:T:G
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.75234737T>C, NC_000017.11:g.75234737T>G, NC_000017.10:g.73230832T>C, NC_000017.10:g.73230832T>G, NM_024844.5:c.1716T>C, NM_024844.5:c.1716T>G, NM_024844.4:c.1716T>C, NM_024844.4:c.1716T>G, NM_024844.3:c.1716T>C, NM_024844.3:c.1716T>G, NM_001303276.2:c.1578T>C, NM_001303276.2:c.1578T>G, NM_001303276.1:c.1578T>C, NM_001303276.1:c.1578T>G, NM_001330472.2:c.1581T>C, NM_001330472.2:c.1581T>G, NM_001330472.1:c.1581T>C, NM_001330472.1:c.1581T>G, XM_047436776.1:c.1716T>C, XM_047436776.1:c.1716T>G, XM_047436777.1:c.1212T>C, XM_047436777.1:c.1212T>G, XM_047436779.1:c.765T>C, XM_047436779.1:c.765T>G, XM_047436780.1:c.525T>C, XM_047436780.1:c.525T>G

Select item 14894817202.

rs1489481720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75209861 (GRCh38)
17:73205956 (GRCh37)
Canonical SPDI:: NC_000017.11:75209860:A:G
Gene:: NUP85 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.75209861A>G, NC_000017.10:g.73205956A>G, NM_024844.5:c.166A>G, NM_024844.4:c.166A>G, NM_024844.3:c.166A>G, NM_001303276.2:c.28A>G, NM_001303276.1:c.28A>G, NM_001330472.2:c.166A>G, NM_001330472.1:c.166A>G, XR_002958072.2:n.249A>G, XR_002958072.1:n.225A>G, XM_024450951.2:c.166A>G, XM_024450951.1:c.-814A>G, XR_007065462.1:n.249A>G, XR_007065461.1:n.249A>G, XM_047436776.1:c.166A>G, XM_047436778.1:c.166A>G, XR_007065463.1:n.249A>G, NP_079120.1:p.Ile56Val, NP_001290205.1:p.Ile10Val, NP_001317401.1:p.Ile56Val, XP_024306719.2:p.Ile56Val, XP_047292732.1:p.Ile56Val, XP_047292734.1:p.Ile56Val

Select item 14885145383.

rs1488514538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75205785 (GRCh38)
17:73201880 (GRCh37)
Canonical SPDI:: NC_000017.11:75205784:A:G
Gene:: NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75205785A>G, NC_000017.10:g.73201880A>G, NM_024844.5:c.24A>G, NM_024844.4:c.24A>G, NM_024844.3:c.24A>G, NM_001303276.2:c.-21A>G, NM_001303276.1:c.-21A>G, NM_001330472.2:c.24A>G, NM_001330472.1:c.24A>G, XR_002958072.2:n.107A>G, XR_002958072.1:n.83A>G, XM_024450951.2:c.24A>G, XM_024450951.1:c.-956A>G, XR_007065462.1:n.107A>G, XR_007065461.1:n.107A>G, XM_047436776.1:c.24A>G, XM_047436778.1:c.24A>G, XR_007065463.1:n.107A>G

Select item 14869367034.

rs1486936703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75231894 (GRCh38)
17:73227989 (GRCh37)
Canonical SPDI:: NC_000017.11:75231893:G:T
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.75231894G>T, NC_000017.10:g.73227989G>T, NM_024844.5:c.1311G>T, NM_024844.4:c.1311G>T, NM_024844.3:c.1311G>T, NM_001303276.2:c.1173G>T, NM_001303276.1:c.1173G>T, NM_001330472.2:c.1176G>T, NM_001330472.1:c.1176G>T, XM_047436776.1:c.1311G>T, XM_047436777.1:c.807G>T, XM_047436779.1:c.360G>T, XM_047436780.1:c.120G>T

Select item 14866145415.

rs1486614541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75235185 (GRCh38)
17:73231280 (GRCh37)
Canonical SPDI:: NC_000017.11:75235184:A:G
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.75235185A>G, NC_000017.10:g.73231280A>G, NM_024844.5:c.1853A>G, NM_024844.4:c.1853A>G, NM_024844.3:c.1853A>G, NM_001303276.2:c.1715A>G, NM_001303276.1:c.1715A>G, NM_001330472.2:c.1718A>G, NM_001330472.1:c.1718A>G, XM_047436776.1:c.*52A>G, XM_047436777.1:c.1349A>G, XM_047436779.1:c.902A>G, XM_047436780.1:c.662A>G, NP_079120.1:p.Asp618Gly, NP_001290205.1:p.Asp572Gly, NP_001317401.1:p.Asp573Gly, XP_047292733.1:p.Asp450Gly, XP_047292735.1:p.Asp301Gly, XP_047292736.1:p.Asp221Gly

Select item 14852847366.

rs1485284736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:75211994 (GRCh38)
17:73208089 (GRCh37)
Canonical SPDI:: NC_000017.11:75211993:T:G
Gene:: NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75211994T>G, NC_000017.10:g.73208089T>G, NM_024844.5:c.293T>G, NM_024844.4:c.293T>G, NM_024844.3:c.293T>G, NM_001303276.2:c.155T>G, NM_001303276.1:c.155T>G, NM_001330472.2:c.293T>G, NM_001330472.1:c.293T>G, XR_002958072.2:n.376T>G, XR_002958072.1:n.352T>G, XM_024450951.2:c.293T>G, XM_024450951.1:c.-687T>G, XR_007065462.1:n.376T>G, XR_007065461.1:n.376T>G, XM_047436776.1:c.293T>G, XM_047436778.1:c.293T>G, XM_047436777.1:c.-90T>G, XR_007065463.1:n.376T>G, NP_079120.1:p.Leu98Trp, NP_001290205.1:p.Leu52Trp, NP_001317401.1:p.Leu98Trp, XP_024306719.2:p.Leu98Trp, XP_047292732.1:p.Leu98Trp, XP_047292734.1:p.Leu98Trp

Select item 14823532917.

rs1482353291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75215814 (GRCh38)
17:73211909 (GRCh37)
Canonical SPDI:: NC_000017.11:75215813:G:A
Gene:: NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75215814G>A, NC_000017.10:g.73211909G>A, NM_024844.5:c.466G>A, NM_024844.4:c.466G>A, NM_024844.3:c.466G>A, NM_001303276.2:c.328G>A, NM_001303276.1:c.328G>A, NM_001330472.2:c.466G>A, NM_001330472.1:c.466G>A, XR_002958072.2:n.549G>A, XR_002958072.1:n.525G>A, XM_024450951.2:c.466G>A, XM_024450951.1:c.-514G>A, XR_007065462.1:n.549G>A, XR_007065461.1:n.549G>A, XM_047436776.1:c.466G>A, XM_047436778.1:c.466G>A, XM_047436777.1:c.84G>A, XR_007065463.1:n.549G>A, NP_079120.1:p.Val156Met, NP_001290205.1:p.Val110Met, NP_001317401.1:p.Val156Met, XP_024306719.2:p.Val156Met, XP_047292732.1:p.Val156Met, XP_047292734.1:p.Val156Met

Select item 14811238478.

rs1481123847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75235144 (GRCh38)
17:73231239 (GRCh37)
Canonical SPDI:: NC_000017.11:75235143:G:C
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_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_000017.11:g.75235144G>C, NC_000017.10:g.73231239G>C, NM_024844.5:c.1812G>C, NM_024844.4:c.1812G>C, NM_024844.3:c.1812G>C, NM_001303276.2:c.1674G>C, NM_001303276.1:c.1674G>C, NM_001330472.2:c.1677G>C, NM_001330472.1:c.1677G>C, XM_047436776.1:c.*11G>C, XM_047436777.1:c.1308G>C, XM_047436779.1:c.861G>C, XM_047436780.1:c.621G>C

Select item 14808981119.

rs1480898111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:75235119 (GRCh38)
17:73231214 (GRCh37)
Canonical SPDI:: NC_000017.11:75235118:A:C
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75235119A>C, NC_000017.10:g.73231214A>C, NM_024844.5:c.1787A>C, NM_024844.4:c.1787A>C, NM_024844.3:c.1787A>C, NM_001303276.2:c.1649A>C, NM_001303276.1:c.1649A>C, NM_001330472.2:c.1652A>C, NM_001330472.1:c.1652A>C, XM_047436776.1:c.1771A>C, XM_047436777.1:c.1283A>C, XM_047436779.1:c.836A>C, XM_047436780.1:c.596A>C, NP_079120.1:p.Gln596Pro, NP_001290205.1:p.Gln550Pro, NP_001317401.1:p.Gln551Pro, XP_047292733.1:p.Gln428Pro, XP_047292735.1:p.Gln279Pro, XP_047292736.1:p.Gln199Pro

Select item 148079140110.

rs1480791401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75226085 (GRCh38)
17:73222180 (GRCh37)
Canonical SPDI:: NC_000017.11:75226084:G:C
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75226085G>C, NC_000017.10:g.73222180G>C, NM_024844.5:c.1022G>C, NM_024844.4:c.1022G>C, NM_024844.3:c.1022G>C, NM_001303276.2:c.884G>C, NM_001303276.1:c.884G>C, NM_001330472.2:c.887G>C, NM_001330472.1:c.887G>C, XR_002958072.2:n.1105G>C, XR_002958072.1:n.1081G>C, XM_024450951.2:c.*57G>C, XM_024450951.1:c.71G>C, XR_007065462.1:n.1105G>C, XR_007065461.1:n.1105G>C, XM_047436776.1:c.1022G>C, XM_047436778.1:c.887G>C, XM_047436777.1:c.518G>C, XR_007065463.1:n.1105G>C, XM_047436779.1:c.71G>C, NP_079120.1:p.Ser341Thr, NP_001290205.1:p.Ser295Thr, NP_001317401.1:p.Ser296Thr, XP_047292732.1:p.Ser341Thr, XP_047292734.1:p.Ser296Thr, XP_047292733.1:p.Ser173Thr, XP_047292735.1:p.Ser24Thr

Select item 148004040111.

rs1480040401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75231634 (GRCh38)
17:73227729 (GRCh37)
Canonical SPDI:: NC_000017.11:75231633:C:A,NC_000017.11:75231633:C:T
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75231634C>A, NC_000017.11:g.75231634C>T, NC_000017.10:g.73227729C>A, NC_000017.10:g.73227729C>T, NM_024844.5:c.1240C>A, NM_024844.5:c.1240C>T, NM_024844.4:c.1240C>A, NM_024844.4:c.1240C>T, NM_024844.3:c.1240C>A, NM_024844.3:c.1240C>T, NM_001303276.2:c.1102C>A, NM_001303276.2:c.1102C>T, NM_001303276.1:c.1102C>A, NM_001303276.1:c.1102C>T, NM_001330472.2:c.1105C>A, NM_001330472.2:c.1105C>T, NM_001330472.1:c.1105C>A, NM_001330472.1:c.1105C>T, XM_047436776.1:c.1240C>A, XM_047436776.1:c.1240C>T, XM_047436777.1:c.736C>A, XM_047436777.1:c.736C>T, XM_047436779.1:c.289C>A, XM_047436779.1:c.289C>T, XM_047436780.1:c.49C>A, XM_047436780.1:c.49C>T, NP_079120.1:p.Pro414Thr, NP_079120.1:p.Pro414Ser, NP_001290205.1:p.Pro368Thr, NP_001290205.1:p.Pro368Ser, NP_001317401.1:p.Pro369Thr, NP_001317401.1:p.Pro369Ser, XP_047292732.1:p.Pro414Thr, XP_047292732.1:p.Pro414Ser, XP_047292733.1:p.Pro246Thr, XP_047292733.1:p.Pro246Ser, XP_047292735.1:p.Pro97Thr, XP_047292735.1:p.Pro97Ser, XP_047292736.1:p.Pro17Thr, XP_047292736.1:p.Pro17Ser

Select item 147845484412.

rs1478454844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75231942 (GRCh38)
17:73228037 (GRCh37)
Canonical SPDI:: NC_000017.11:75231941:G:A
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75231942G>A, NC_000017.10:g.73228037G>A, NM_024844.5:c.1359G>A, NM_024844.4:c.1359G>A, NM_024844.3:c.1359G>A, NM_001303276.2:c.1221G>A, NM_001303276.1:c.1221G>A, NM_001330472.2:c.1224G>A, NM_001330472.1:c.1224G>A, XM_047436776.1:c.1359G>A, XM_047436777.1:c.855G>A, XM_047436779.1:c.408G>A, XM_047436780.1:c.168G>A

Select item 147684497713.

rs1476844977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75232901 (GRCh38)
17:73228996 (GRCh37)
Canonical SPDI:: NC_000017.11:75232900:C:T
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75232901C>T, NC_000017.10:g.73228996C>T, NM_024844.5:c.1447C>T, NM_024844.4:c.1447C>T, NM_024844.3:c.1447C>T, NM_001303276.2:c.1309C>T, NM_001303276.1:c.1309C>T, NM_001330472.2:c.1312C>T, NM_001330472.1:c.1312C>T, XM_047436776.1:c.1447C>T, XM_047436777.1:c.943C>T, XM_047436779.1:c.496C>T, XM_047436780.1:c.256C>T

Select item 147622154514.

rs1476221545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75235133 (GRCh38)
17:73231228 (GRCh37)
Canonical SPDI:: NC_000017.11:75235132:A:G
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,intron_variant,genic_downstream_transcript_variant,missense_variant,terminator_codon_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75235133A>G, NC_000017.10:g.73231228A>G, NM_024844.5:c.1801A>G, NM_024844.4:c.1801A>G, NM_024844.3:c.1801A>G, NM_001303276.2:c.1663A>G, NM_001303276.1:c.1663A>G, NM_001330472.2:c.1666A>G, NM_001330472.1:c.1666A>G, XM_047436776.1:c.1785A>G, XM_047436777.1:c.1297A>G, XM_047436779.1:c.850A>G, XM_047436780.1:c.610A>G, NP_079120.1:p.Met601Val, NP_001290205.1:p.Met555Val, NP_001317401.1:p.Met556Val, XP_047292732.1:p.Ter595Trp, XP_047292733.1:p.Met433Val, XP_047292735.1:p.Met284Val, XP_047292736.1:p.Met204Val

Select item 147600616315.

rs1476006163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75231607 (GRCh38)
17:73227702 (GRCh37)
Canonical SPDI:: NC_000017.11:75231606:G:C
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_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_000017.11:g.75231607G>C, NC_000017.10:g.73227702G>C, NM_024844.5:c.1213G>C, NM_024844.4:c.1213G>C, NM_024844.3:c.1213G>C, NM_001303276.2:c.1075G>C, NM_001303276.1:c.1075G>C, NM_001330472.2:c.1078G>C, NM_001330472.1:c.1078G>C, XM_047436776.1:c.1213G>C, XM_047436777.1:c.709G>C, XM_047436779.1:c.262G>C, XM_047436780.1:c.22G>C, NP_079120.1:p.Glu405Gln, NP_001290205.1:p.Glu359Gln, NP_001317401.1:p.Glu360Gln, XP_047292732.1:p.Glu405Gln, XP_047292733.1:p.Glu237Gln, XP_047292735.1:p.Glu88Gln, XP_047292736.1:p.Glu8Gln

Select item 147304493416.

rs1473044934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75209841 (GRCh38)
17:73205936 (GRCh37)
Canonical SPDI:: NC_000017.11:75209840:C:A
Gene:: NUP85 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75209841C>A, NC_000017.10:g.73205936C>A, NM_024844.5:c.146C>A, NM_024844.4:c.146C>A, NM_024844.3:c.146C>A, NM_001303276.2:c.8C>A, NM_001303276.1:c.8C>A, NM_001330472.2:c.146C>A, NM_001330472.1:c.146C>A, XR_002958072.2:n.229C>A, XR_002958072.1:n.205C>A, XM_024450951.2:c.146C>A, XM_024450951.1:c.-834C>A, XR_007065462.1:n.229C>A, XR_007065461.1:n.229C>A, XM_047436776.1:c.146C>A, XM_047436778.1:c.146C>A, XR_007065463.1:n.229C>A, NP_079120.1:p.Pro49Gln, NP_001290205.1:p.Pro3Gln, NP_001317401.1:p.Pro49Gln, XP_024306719.2:p.Pro49Gln, XP_047292732.1:p.Pro49Gln, XP_047292734.1:p.Pro49Gln

Select item 147210462217.

rs1472104622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75234730 (GRCh38)
17:73230825 (GRCh37)
Canonical SPDI:: NC_000017.11:75234729:C:G
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75234730C>G, NC_000017.10:g.73230825C>G, NM_024844.5:c.1709C>G, NM_024844.4:c.1709C>G, NM_024844.3:c.1709C>G, NM_001303276.2:c.1571C>G, NM_001303276.1:c.1571C>G, NM_001330472.2:c.1574C>G, NM_001330472.1:c.1574C>G, XM_047436776.1:c.1709C>G, XM_047436777.1:c.1205C>G, XM_047436779.1:c.758C>G, XM_047436780.1:c.518C>G, NP_079120.1:p.Pro570Arg, NP_001290205.1:p.Pro524Arg, NP_001317401.1:p.Pro525Arg, XP_047292732.1:p.Pro570Arg, XP_047292733.1:p.Pro402Arg, XP_047292735.1:p.Pro253Arg, XP_047292736.1:p.Pro173Arg

Select item 147186757318.

rs1471867573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75212059 (GRCh38)
17:73208154 (GRCh37)
Canonical SPDI:: NC_000017.11:75212058:G:A
Gene:: NUP85 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.75212059G>A, NC_000017.10:g.73208154G>A, NM_024844.5:c.358G>A, NM_024844.4:c.358G>A, NM_024844.3:c.358G>A, NM_001303276.2:c.220G>A, NM_001303276.1:c.220G>A, NM_001330472.2:c.358G>A, NM_001330472.1:c.358G>A, XR_002958072.2:n.441G>A, XR_002958072.1:n.417G>A, XM_024450951.2:c.358G>A, XM_024450951.1:c.-622G>A, XR_007065462.1:n.441G>A, XR_007065461.1:n.441G>A, XM_047436776.1:c.358G>A, XM_047436778.1:c.358G>A, XM_047436777.1:c.-25G>A, XR_007065463.1:n.441G>A, NP_079120.1:p.Ala120Thr, NP_001290205.1:p.Ala74Thr, NP_001317401.1:p.Ala120Thr, XP_024306719.2:p.Ala120Thr, XP_047292732.1:p.Ala120Thr, XP_047292734.1:p.Ala120Thr

Select item 147026268219.

rs1470262682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAGA>- [Show Flanks]
Chromosome:: 17:75235651 (GRCh38)
17:73231746 (GRCh37)
Canonical SPDI:: NC_000017.11:75235649:ATAAGA:A
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75235651_75235655del, NC_000017.10:g.73231746_73231750del, NM_024844.5:c.1943_1947del, NM_024844.4:c.1943_1947del, NM_024844.3:c.1943_1947del, NM_001303276.2:c.1805_1809del, NM_001303276.1:c.1805_1809del, NM_001330472.2:c.1808_1812del, NM_001330472.1:c.1808_1812del, XM_047436777.1:c.1439_1443del, XM_047436779.1:c.992_996del, XM_047436780.1:c.752_756del, NP_079120.1:p.Ile648fs, NP_001290205.1:p.Ile602fs, NP_001317401.1:p.Ile603fs, XP_047292733.1:p.Ile480fs, XP_047292735.1:p.Ile331fs, XP_047292736.1:p.Ile251fs

Select item 146968420920.

rs1469684209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75225789 (GRCh38)
17:73221884 (GRCh37)
Canonical SPDI:: NC_000017.11:75225788:A:G
Gene:: GGA3 (Varview), NUP85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75225789A>G, NC_000017.10:g.73221884A>G, NM_024844.5:c.947A>G, NM_024844.4:c.947A>G, NM_024844.3:c.947A>G, NM_001303276.2:c.809A>G, NM_001303276.1:c.809A>G, NM_001330472.2:c.812A>G, NM_001330472.1:c.812A>G, XR_002958072.2:n.1030A>G, XR_002958072.1:n.1006A>G, XM_024450951.2:c.947A>G, XM_024450951.1:c.-33A>G, XR_007065462.1:n.1030A>G, XR_007065461.1:n.1030A>G, XM_047436776.1:c.947A>G, XM_047436778.1:c.812A>G, XM_047436777.1:c.443A>G, XR_007065463.1:n.1030A>G, XM_047436779.1:c.-33A>G, NP_079120.1:p.Asn316Ser, NP_001290205.1:p.Asn270Ser, NP_001317401.1:p.Asn271Ser, XP_024306719.2:p.Asn316Ser, XP_047292732.1:p.Asn316Ser, XP_047292734.1:p.Asn271Ser, XP_047292733.1:p.Asn148Ser

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