SNP Links for Protein (Select 530372153) - SNP

Links from Protein

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Select item 14896971891.

rs1489697189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:13379702 (GRCh38)
3:13421202 (GRCh37)
Canonical SPDI:: NC_000003.12:13379701:A:C,NC_000003.12:13379701:A:G
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13379702A>C, NC_000003.12:g.13379702A>G, NC_000003.11:g.13421202A>C, NC_000003.11:g.13421202A>G, NM_024923.4:c.837T>G, NM_024923.4:c.837T>C, NM_024923.3:c.837T>G, NM_024923.3:c.837T>C, XM_005264994.4:c.837T>G, XM_005264994.4:c.837T>C, XM_005264994.3:c.837T>G, XM_005264994.3:c.837T>C, XM_005264994.2:c.837T>G, XM_005264994.2:c.837T>C, XM_005264994.1:c.837T>G, XM_005264994.1:c.837T>C, XM_011533538.3:c.837T>G, XM_011533538.3:c.837T>C, XM_011533538.2:c.837T>G, XM_011533538.2:c.837T>C, XM_011533538.1:c.837T>G, XM_011533538.1:c.837T>C, XR_007095651.1:n.933T>G, XR_007095651.1:n.933T>C, XM_047447798.1:c.837T>G, XM_047447798.1:c.837T>C, NP_079199.2:p.Asp279Glu, XP_005265051.1:p.Asp279Glu, XP_011531840.1:p.Asp279Glu, XP_047303754.1:p.Asp279Glu

Select item 14892453722.

rs1489245372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:13372014 (GRCh38)
3:13413514 (GRCh37)
Canonical SPDI:: NC_000003.12:13372013:G:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.13372014G>T, NC_000003.11:g.13413514G>T, NM_024923.4:c.1606C>A, NM_024923.3:c.1606C>A, XM_005264994.4:c.1606C>A, XM_005264994.3:c.1606C>A, XM_005264994.2:c.1606C>A, XM_005264994.1:c.1606C>A, XM_011533538.3:c.1606C>A, XM_011533538.2:c.1606C>A, XM_011533538.1:c.1606C>A, XR_007095651.1:n.1702C>A, XM_047447798.1:c.1606C>A, NP_079199.2:p.His536Asn, XP_005265051.1:p.His536Asn, XP_011531840.1:p.His536Asn, XP_047303754.1:p.His536Asn

Select item 14887771343.

rs1488777134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13366080 (GRCh38)
3:13407580 (GRCh37)
Canonical SPDI:: NC_000003.12:13366079:G:A
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.13366080G>A, NC_000003.11:g.13407580G>A, NM_024923.4:c.1798C>T, NM_024923.3:c.1798C>T, XM_005264994.4:c.1798C>T, XM_005264994.3:c.1798C>T, XM_005264994.2:c.1798C>T, XM_005264994.1:c.1798C>T, XM_011533538.3:c.1798C>T, XM_011533538.2:c.1798C>T, XM_011533538.1:c.1798C>T, XR_007095651.1:n.1894C>T, XM_047447798.1:c.1798C>T, NP_079199.2:p.Pro600Ser, XP_005265051.1:p.Pro600Ser, XP_011531840.1:p.Pro600Ser, XP_047303754.1:p.Pro600Ser

Select item 14874142544.

rs1487414254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13375514 (GRCh38)
3:13417014 (GRCh37)
Canonical SPDI:: NC_000003.12:13375513:T:C
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13375514T>C, NC_000003.11:g.13417014T>C, NM_024923.4:c.1421A>G, NM_024923.3:c.1421A>G, XM_005264994.4:c.1421A>G, XM_005264994.3:c.1421A>G, XM_005264994.2:c.1421A>G, XM_005264994.1:c.1421A>G, XM_011533538.3:c.1421A>G, XM_011533538.2:c.1421A>G, XM_011533538.1:c.1421A>G, XR_007095651.1:n.1517A>G, XM_047447798.1:c.1421A>G, NP_079199.2:p.Tyr474Cys, XP_005265051.1:p.Tyr474Cys, XP_011531840.1:p.Tyr474Cys, XP_047303754.1:p.Tyr474Cys

Select item 14873098465.

rs1487309846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13376300 (GRCh38)
3:13417800 (GRCh37)
Canonical SPDI:: NC_000003.12:13376299:C:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.13376300C>T, NC_000003.11:g.13417800C>T, NM_024923.4:c.1284G>A, NM_024923.3:c.1284G>A, XM_005264994.4:c.1284G>A, XM_005264994.3:c.1284G>A, XM_005264994.2:c.1284G>A, XM_005264994.1:c.1284G>A, XM_011533538.3:c.1284G>A, XM_011533538.2:c.1284G>A, XM_011533538.1:c.1284G>A, XR_007095651.1:n.1380G>A, XM_047447798.1:c.1284G>A

Select item 14869284706.

rs1486928470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:13375592 (GRCh38)
3:13417092 (GRCh37)
Canonical SPDI:: NC_000003.12:13375591:A:G
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13375592A>G, NC_000003.11:g.13417092A>G, NM_024923.4:c.1343T>C, NM_024923.3:c.1343T>C, XM_005264994.4:c.1343T>C, XM_005264994.3:c.1343T>C, XM_005264994.2:c.1343T>C, XM_005264994.1:c.1343T>C, XM_011533538.3:c.1343T>C, XM_011533538.2:c.1343T>C, XM_011533538.1:c.1343T>C, XR_007095651.1:n.1439T>C, XM_047447798.1:c.1343T>C, NP_079199.2:p.Val448Ala, XP_005265051.1:p.Val448Ala, XP_011531840.1:p.Val448Ala, XP_047303754.1:p.Val448Ala

Select item 14855101717.

rs1485510171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:13358294 (GRCh38)
3:13399794 (GRCh37)
Canonical SPDI:: NC_000003.12:13358293:G:A,NC_000003.12:13358293:G:C
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.13358294G>A, NC_000003.12:g.13358294G>C, NC_000003.11:g.13399794G>A, NC_000003.11:g.13399794G>C, NM_024923.4:c.2256C>T, NM_024923.4:c.2256C>G, NM_024923.3:c.2256C>T, NM_024923.3:c.2256C>G, XM_005264994.4:c.2256C>T, XM_005264994.4:c.2256C>G, XM_005264994.3:c.2256C>T, XM_005264994.3:c.2256C>G, XM_005264994.2:c.2256C>T, XM_005264994.2:c.2256C>G, XM_005264994.1:c.2256C>T, XM_005264994.1:c.2256C>G, XM_011533538.3:c.2256C>T, XM_011533538.3:c.2256C>G, XM_011533538.2:c.2256C>T, XM_011533538.2:c.2256C>G, XM_011533538.1:c.2256C>T, XM_011533538.1:c.2256C>G, XR_007095651.1:n.2352C>T, XR_007095651.1:n.2352C>G, XM_047447798.1:c.2256C>T, XM_047447798.1:c.2256C>G

Select item 14850141968.

rs1485014196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13420188 (GRCh38)
3:13461688 (GRCh37)
Canonical SPDI:: NC_000003.12:13420187:C:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13420188C>T, NC_000003.11:g.13461688C>T, NM_024923.4:c.39G>A, NM_024923.3:c.39G>A, XM_005264994.4:c.39G>A, XM_005264994.3:c.39G>A, XM_005264994.2:c.39G>A, XM_005264994.1:c.39G>A, XM_011533538.3:c.39G>A, XM_011533538.2:c.39G>A, XM_011533538.1:c.39G>A, XR_007095651.1:n.135G>A, XM_047447798.1:c.39G>A

Select item 14836598049.

rs1483659804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13371880 (GRCh38)
3:13413380 (GRCh37)
Canonical SPDI:: NC_000003.12:13371879:G:A
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13371880G>A, NC_000003.11:g.13413380G>A, NM_024923.4:c.1740C>T, NM_024923.3:c.1740C>T, XM_005264994.4:c.1740C>T, XM_005264994.3:c.1740C>T, XM_005264994.2:c.1740C>T, XM_005264994.1:c.1740C>T, XM_011533538.3:c.1740C>T, XM_011533538.2:c.1740C>T, XM_011533538.1:c.1740C>T, XR_007095651.1:n.1836C>T, XM_047447798.1:c.1740C>T

Select item 148286176910.

rs1482861769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13366010 (GRCh38)
3:13407510 (GRCh37)
Canonical SPDI:: NC_000003.12:13366009:C:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.13366010C>T, NC_000003.11:g.13407510C>T, NM_024923.4:c.1868G>A, NM_024923.3:c.1868G>A, XM_005264994.4:c.1868G>A, XM_005264994.3:c.1868G>A, XM_005264994.2:c.1868G>A, XM_005264994.1:c.1868G>A, XM_011533538.3:c.1868G>A, XM_011533538.2:c.1868G>A, XM_011533538.1:c.1868G>A, XR_007095651.1:n.1964G>A, XM_047447798.1:c.1868G>A, NP_079199.2:p.Ser623Asn, XP_005265051.1:p.Ser623Asn, XP_011531840.1:p.Ser623Asn, XP_047303754.1:p.Ser623Asn

Select item 148138108211.

rs1481381082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:13379707 (GRCh38)
3:13421207 (GRCh37)
Canonical SPDI:: NC_000003.12:13379706:A:G,NC_000003.12:13379706:A:T
Gene:: NUP210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000032/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13379707A>G, NC_000003.12:g.13379707A>T, NC_000003.11:g.13421207A>G, NC_000003.11:g.13421207A>T, NM_024923.4:c.832T>C, NM_024923.4:c.832T>A, NM_024923.3:c.832T>C, NM_024923.3:c.832T>A, XM_005264994.4:c.832T>C, XM_005264994.4:c.832T>A, XM_005264994.3:c.832T>C, XM_005264994.3:c.832T>A, XM_005264994.2:c.832T>C, XM_005264994.2:c.832T>A, XM_005264994.1:c.832T>C, XM_005264994.1:c.832T>A, XM_011533538.3:c.832T>C, XM_011533538.3:c.832T>A, XM_011533538.2:c.832T>C, XM_011533538.2:c.832T>A, XM_011533538.1:c.832T>C, XM_011533538.1:c.832T>A, XR_007095651.1:n.928T>C, XR_007095651.1:n.928T>A, XM_047447798.1:c.832T>C, XM_047447798.1:c.832T>A, NP_079199.2:p.Ser278Pro, NP_079199.2:p.Ser278Thr, XP_005265051.1:p.Ser278Pro, XP_005265051.1:p.Ser278Thr, XP_011531840.1:p.Ser278Pro, XP_011531840.1:p.Ser278Thr, XP_047303754.1:p.Ser278Pro, XP_047303754.1:p.Ser278Thr

Select item 148130582512.

rs1481305825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:13379606 (GRCh38)
3:13421106 (GRCh37)
Canonical SPDI:: NC_000003.12:13379605:A:C
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.13379606A>C, NC_000003.11:g.13421106A>C, NM_024923.4:c.933T>G, NM_024923.3:c.933T>G, XM_005264994.4:c.933T>G, XM_005264994.3:c.933T>G, XM_005264994.2:c.933T>G, XM_005264994.1:c.933T>G, XM_011533538.3:c.933T>G, XM_011533538.2:c.933T>G, XM_011533538.1:c.933T>G, XR_007095651.1:n.1029T>G, XM_047447798.1:c.933T>G

Select item 148018195613.

rs1480181956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:13377543 (GRCh38)
3:13419043 (GRCh37)
Canonical SPDI:: NC_000003.12:13377542:A:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13377543A>T, NC_000003.11:g.13419043A>T, NM_024923.4:c.1065T>A, NM_024923.3:c.1065T>A, XM_005264994.4:c.1065T>A, XM_005264994.3:c.1065T>A, XM_005264994.2:c.1065T>A, XM_005264994.1:c.1065T>A, XM_011533538.3:c.1065T>A, XM_011533538.2:c.1065T>A, XM_011533538.1:c.1065T>A, XR_007095651.1:n.1161T>A, XM_047447798.1:c.1065T>A

Select item 147924832514.

rs1479248325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:13360345 (GRCh38)
3:13401845 (GRCh37)
Canonical SPDI:: NC_000003.12:13360344:A:G
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13360345A>G, NC_000003.11:g.13401845A>G, NM_024923.4:c.2079T>C, NM_024923.3:c.2079T>C, XM_005264994.4:c.2079T>C, XM_005264994.3:c.2079T>C, XM_005264994.2:c.2079T>C, XM_005264994.1:c.2079T>C, XM_011533538.3:c.2079T>C, XM_011533538.2:c.2079T>C, XM_011533538.1:c.2079T>C, XR_007095651.1:n.2175T>C, XM_047447798.1:c.2079T>C

Select item 147916809415.

rs1479168094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13391255 (GRCh38)
3:13432755 (GRCh37)
Canonical SPDI:: NC_000003.12:13391254:C:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.13391255C>T, NC_000003.11:g.13432755C>T, NM_024923.4:c.489G>A, NM_024923.3:c.489G>A, XM_005264994.4:c.489G>A, XM_005264994.3:c.489G>A, XM_005264994.2:c.489G>A, XM_005264994.1:c.489G>A, XM_011533538.3:c.489G>A, XM_011533538.2:c.489G>A, XM_011533538.1:c.489G>A, XR_007095651.1:n.585G>A, XM_047447798.1:c.489G>A

Select item 147792825416.

rs1477928254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:13360409 (GRCh38)
3:13401909 (GRCh37)
Canonical SPDI:: NC_000003.12:13360408:A:G
Gene:: NUP210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13360409A>G, NC_000003.11:g.13401909A>G, NM_024923.4:c.2015T>C, NM_024923.3:c.2015T>C, XM_005264994.4:c.2015T>C, XM_005264994.3:c.2015T>C, XM_005264994.2:c.2015T>C, XM_005264994.1:c.2015T>C, XM_011533538.3:c.2015T>C, XM_011533538.2:c.2015T>C, XM_011533538.1:c.2015T>C, XR_007095651.1:n.2111T>C, XM_047447798.1:c.2015T>C, NP_079199.2:p.Ile672Thr, XP_005265051.1:p.Ile672Thr, XP_011531840.1:p.Ile672Thr, XP_047303754.1:p.Ile672Thr

Select item 147780274917.

rs1477802749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:13373867 (GRCh38)
3:13415367 (GRCh37)
Canonical SPDI:: NC_000003.12:13373866:C:A,NC_000003.12:13373866:C:G,NC_000003.12:13373866:C:T
Gene:: NUP210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.13373867C>A, NC_000003.12:g.13373867C>G, NC_000003.12:g.13373867C>T, NC_000003.11:g.13415367C>A, NC_000003.11:g.13415367C>G, NC_000003.11:g.13415367C>T, NM_024923.4:c.1438G>T, NM_024923.4:c.1438G>C, NM_024923.4:c.1438G>A, NM_024923.3:c.1438G>T, NM_024923.3:c.1438G>C, NM_024923.3:c.1438G>A, XM_005264994.4:c.1438G>T, XM_005264994.4:c.1438G>C, XM_005264994.4:c.1438G>A, XM_005264994.3:c.1438G>T, XM_005264994.3:c.1438G>C, XM_005264994.3:c.1438G>A, XM_005264994.2:c.1438G>T, XM_005264994.2:c.1438G>C, XM_005264994.2:c.1438G>A, XM_005264994.1:c.1438G>T, XM_005264994.1:c.1438G>C, XM_005264994.1:c.1438G>A, XM_011533538.3:c.1438G>T, XM_011533538.3:c.1438G>C, XM_011533538.3:c.1438G>A, XM_011533538.2:c.1438G>T, XM_011533538.2:c.1438G>C, XM_011533538.2:c.1438G>A, XM_011533538.1:c.1438G>T, XM_011533538.1:c.1438G>C, XM_011533538.1:c.1438G>A, XR_007095651.1:n.1534G>T, XR_007095651.1:n.1534G>C, XR_007095651.1:n.1534G>A, XM_047447798.1:c.1438G>T, XM_047447798.1:c.1438G>C, XM_047447798.1:c.1438G>A, NP_079199.2:p.Gly480Cys, NP_079199.2:p.Gly480Arg, NP_079199.2:p.Gly480Ser, XP_005265051.1:p.Gly480Cys, XP_005265051.1:p.Gly480Arg, XP_005265051.1:p.Gly480Ser, XP_011531840.1:p.Gly480Cys, XP_011531840.1:p.Gly480Arg, XP_011531840.1:p.Gly480Ser, XP_047303754.1:p.Gly480Cys, XP_047303754.1:p.Gly480Arg, XP_047303754.1:p.Gly480Ser

Select item 147682193418.

rs1476821934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:13388377 (GRCh38)
3:13429877 (GRCh37)
Canonical SPDI:: NC_000003.12:13388376:C:G
Gene:: NUP210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13388377C>G, NC_000003.11:g.13429877C>G, NM_024923.4:c.610G>C, NM_024923.3:c.610G>C, XM_005264994.4:c.610G>C, XM_005264994.3:c.610G>C, XM_005264994.2:c.610G>C, XM_005264994.1:c.610G>C, XM_011533538.3:c.610G>C, XM_011533538.2:c.610G>C, XM_011533538.1:c.610G>C, XR_007095651.1:n.706G>C, XM_047447798.1:c.610G>C, NP_079199.2:p.Asp204His, XP_005265051.1:p.Asp204His, XP_011531840.1:p.Asp204His, XP_047303754.1:p.Asp204His

Select item 147597979519.

rs1475979795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:13353964 (GRCh38)
3:13395464 (GRCh37)
Canonical SPDI:: NC_000003.12:13353963:G:A,NC_000003.12:13353963:G:C,NC_000003.12:13353963:G:T
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.13353964G>A, NC_000003.12:g.13353964G>C, NC_000003.12:g.13353964G>T, NC_000003.11:g.13395464G>A, NC_000003.11:g.13395464G>C, NC_000003.11:g.13395464G>T, NM_024923.4:c.2472C>T, NM_024923.4:c.2472C>G, NM_024923.4:c.2472C>A, NM_024923.3:c.2472C>T, NM_024923.3:c.2472C>G, NM_024923.3:c.2472C>A, XM_005264994.4:c.2472C>T, XM_005264994.4:c.2472C>G, XM_005264994.4:c.2472C>A, XM_005264994.3:c.2472C>T, XM_005264994.3:c.2472C>G, XM_005264994.3:c.2472C>A, XM_005264994.2:c.2472C>T, XM_005264994.2:c.2472C>G, XM_005264994.2:c.2472C>A, XM_005264994.1:c.2472C>T, XM_005264994.1:c.2472C>G, XM_005264994.1:c.2472C>A, XM_011533538.3:c.2472C>T, XM_011533538.3:c.2472C>G, XM_011533538.3:c.2472C>A, XM_011533538.2:c.2472C>T, XM_011533538.2:c.2472C>G, XM_011533538.2:c.2472C>A, XM_011533538.1:c.2472C>T, XM_011533538.1:c.2472C>G, XM_011533538.1:c.2472C>A, XR_007095651.1:n.2568C>T, XR_007095651.1:n.2568C>G, XR_007095651.1:n.2568C>A, XM_047447798.1:c.2472C>T, XM_047447798.1:c.2472C>G, XM_047447798.1:c.2472C>A

Select item 147570671020.

rs1475706710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13376363 (GRCh38)
3:13417863 (GRCh37)
Canonical SPDI:: NC_000003.12:13376362:T:C
Gene:: NUP210 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13376363T>C, NC_000003.11:g.13417863T>C, NM_024923.4:c.1221A>G, NM_024923.3:c.1221A>G, XM_005264994.4:c.1221A>G, XM_005264994.3:c.1221A>G, XM_005264994.2:c.1221A>G, XM_005264994.1:c.1221A>G, XM_011533538.3:c.1221A>G, XM_011533538.2:c.1221A>G, XM_011533538.1:c.1221A>G, XR_007095651.1:n.1317A>G, XM_047447798.1:c.1221A>G

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