SNP Links for Protein (Select 24497603) - SNP

Links from Protein

Items: 1 to 20 of 603

<< First< Prev

Page of 31

Next >Last >>

Select item 14901701421.

rs1490170142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49909641 (GRCh38)
19:50412898 (GRCh37)
Canonical SPDI:: NC_000019.10:49909640:G:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49909641G>C, NC_000019.9:g.50412898G>C, NG_021170.1:g.24865C>G, NG_023448.1:g.25091C>G, NM_016553.5:c.167C>G, NM_016553.4:c.167C>G, NM_012346.5:c.167C>G, NM_012346.4:c.167C>G, NM_153719.4:c.167C>G, NM_153719.3:c.167C>G, NM_153718.4:c.167C>G, NM_153718.3:c.167C>G, NM_001193357.2:c.167C>G, NM_001193357.1:c.167C>G, NP_057637.2:p.Ser56Cys, NP_036478.2:p.Ser56Cys, NP_714941.1:p.Ser56Cys, NP_714940.1:p.Ser56Cys, NP_001180286.1:p.Ser56Cys

Select item 14869177732.

rs1486917773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49908690 (GRCh38)
19:50411947 (GRCh37)
Canonical SPDI:: NC_000019.10:49908689:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.49908690G>A, NC_000019.9:g.50411947G>A, NG_021170.1:g.25816C>T, NG_023448.1:g.26042C>T, NM_016553.5:c.1118C>T, NM_016553.4:c.1118C>T, NM_012346.5:c.1118C>T, NM_012346.4:c.1118C>T, NM_153719.4:c.1118C>T, NM_153719.3:c.1118C>T, NM_153718.4:c.1118C>T, NM_153718.3:c.1118C>T, NM_001193357.2:c.1118C>T, NM_001193357.1:c.1118C>T, NP_057637.2:p.Thr373Ile, NP_036478.2:p.Thr373Ile, NP_714941.1:p.Thr373Ile, NP_714940.1:p.Thr373Ile, NP_001180286.1:p.Thr373Ile

Select item 14867088563.

rs1486708856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49909526 (GRCh38)
19:50412783 (GRCh37)
Canonical SPDI:: NC_000019.10:49909525:A:G
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000019.10:g.49909526A>G, NC_000019.9:g.50412783A>G, NG_021170.1:g.24980T>C, NG_023448.1:g.25206T>C, NM_016553.5:c.282T>C, NM_016553.4:c.282T>C, NM_012346.5:c.282T>C, NM_012346.4:c.282T>C, NM_153719.4:c.282T>C, NM_153719.3:c.282T>C, NM_153718.4:c.282T>C, NM_153718.3:c.282T>C, NM_001193357.2:c.282T>C, NM_001193357.1:c.282T>C

Select item 14863839774.

rs1486383977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49909784 (GRCh38)
19:50413041 (GRCh37)
Canonical SPDI:: NC_000019.10:49909783:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_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_000019.10:g.49909784G>A, NC_000019.9:g.50413041G>A, NG_021170.1:g.24722C>T, NG_023448.1:g.24948C>T, NM_016553.5:c.24C>T, NM_016553.4:c.24C>T, NM_012346.5:c.24C>T, NM_012346.4:c.24C>T, NM_153719.4:c.24C>T, NM_153719.3:c.24C>T, NM_153718.4:c.24C>T, NM_153718.3:c.24C>T, NM_001193357.2:c.24C>T, NM_001193357.1:c.24C>T

Select item 14771220985.

rs1477122098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49908245 (GRCh38)
19:50411502 (GRCh37)
Canonical SPDI:: NC_000019.10:49908244:A:G
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000019.10:g.49908245A>G, NC_000019.9:g.50411502A>G, NG_021170.1:g.26261T>C, NG_023448.1:g.26487T>C, NM_016553.5:c.1563T>C, NM_016553.4:c.1563T>C, NM_012346.5:c.1563T>C, NM_012346.4:c.1563T>C, NM_153719.4:c.1563T>C, NM_153719.3:c.1563T>C, NM_153718.4:c.1563T>C, NM_153718.3:c.1563T>C, NM_001193357.2:c.1563T>C, NM_001193357.1:c.1563T>C

Select item 14742335076.

rs1474233507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49908356 (GRCh38)
19:50411613 (GRCh37)
Canonical SPDI:: NC_000019.10:49908355:T:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49908356T>C, NC_000019.9:g.50411613T>C, NG_021170.1:g.26150A>G, NG_023448.1:g.26376A>G, NM_016553.5:c.1452A>G, NM_016553.4:c.1452A>G, NM_012346.5:c.1452A>G, NM_012346.4:c.1452A>G, NM_153719.4:c.1452A>G, NM_153719.3:c.1452A>G, NM_153718.4:c.1452A>G, NM_153718.3:c.1452A>G, NM_001193357.2:c.1452A>G, NM_001193357.1:c.1452A>G

Select item 14728923147.

rs1472892314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49908426 (GRCh38)
19:50411683 (GRCh37)
Canonical SPDI:: NC_000019.10:49908425:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49908426G>A, NC_000019.9:g.50411683G>A, NG_021170.1:g.26080C>T, NG_023448.1:g.26306C>T, NM_016553.5:c.1382C>T, NM_016553.4:c.1382C>T, NM_012346.5:c.1382C>T, NM_012346.4:c.1382C>T, NM_153719.4:c.1382C>T, NM_153719.3:c.1382C>T, NM_153718.4:c.1382C>T, NM_153718.3:c.1382C>T, NM_001193357.2:c.1382C>T, NM_001193357.1:c.1382C>T, NP_057637.2:p.Ser461Phe, NP_036478.2:p.Ser461Phe, NP_714941.1:p.Ser461Phe, NP_714940.1:p.Ser461Phe, NP_001180286.1:p.Ser461Phe

Select item 14649423508.

rs1464942350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49908812 (GRCh38)
19:50412069 (GRCh37)
Canonical SPDI:: NC_000019.10:49908811:C:G
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000019.10:g.49908812C>G, NC_000019.9:g.50412069C>G, NG_021170.1:g.25694G>C, NG_023448.1:g.25920G>C, NM_016553.5:c.996G>C, NM_016553.4:c.996G>C, NM_012346.5:c.996G>C, NM_012346.4:c.996G>C, NM_153719.4:c.996G>C, NM_153719.3:c.996G>C, NM_153718.4:c.996G>C, NM_153718.3:c.996G>C, NM_001193357.2:c.996G>C, NM_001193357.1:c.996G>C, NP_057637.2:p.Gln332His, NP_036478.2:p.Gln332His, NP_714941.1:p.Gln332His, NP_714940.1:p.Gln332His, NP_001180286.1:p.Gln332His

Select item 14635281319.

rs1463528131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49909614 (GRCh38)
19:50412871 (GRCh37)
Canonical SPDI:: NC_000019.10:49909613:T:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000019.10:g.49909614T>C, NC_000019.9:g.50412871T>C, NG_021170.1:g.24892A>G, NG_023448.1:g.25118A>G, NM_016553.5:c.194A>G, NM_016553.4:c.194A>G, NM_012346.5:c.194A>G, NM_012346.4:c.194A>G, NM_153719.4:c.194A>G, NM_153719.3:c.194A>G, NM_153718.4:c.194A>G, NM_153718.3:c.194A>G, NM_001193357.2:c.194A>G, NM_001193357.1:c.194A>G, NP_057637.2:p.Gln65Arg, NP_036478.2:p.Gln65Arg, NP_714941.1:p.Gln65Arg, NP_714940.1:p.Gln65Arg, NP_001180286.1:p.Gln65Arg

Select item 146150022310.

rs1461500223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49909464 (GRCh38)
19:50412721 (GRCh37)
Canonical SPDI:: NC_000019.10:49909463:C:T
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49909464C>T, NC_000019.9:g.50412721C>T, NG_021170.1:g.25042G>A, NG_023448.1:g.25268G>A, NM_016553.5:c.344G>A, NM_016553.4:c.344G>A, NM_012346.5:c.344G>A, NM_012346.4:c.344G>A, NM_153719.4:c.344G>A, NM_153719.3:c.344G>A, NM_153718.4:c.344G>A, NM_153718.3:c.344G>A, NM_001193357.2:c.344G>A, NM_001193357.1:c.344G>A, NP_057637.2:p.Gly115Glu, NP_036478.2:p.Gly115Glu, NP_714941.1:p.Gly115Glu, NP_714940.1:p.Gly115Glu, NP_001180286.1:p.Gly115Glu

Select item 146090777011.

rs1460907770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49908666 (GRCh38)
19:50411923 (GRCh37)
Canonical SPDI:: NC_000019.10:49908665:T:G
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49908666T>G, NC_000019.9:g.50411923T>G, NG_021170.1:g.25840A>C, NG_023448.1:g.26066A>C, NM_016553.5:c.1142A>C, NM_016553.4:c.1142A>C, NM_012346.5:c.1142A>C, NM_012346.4:c.1142A>C, NM_153719.4:c.1142A>C, NM_153719.3:c.1142A>C, NM_153718.4:c.1142A>C, NM_153718.3:c.1142A>C, NM_001193357.2:c.1142A>C, NM_001193357.1:c.1142A>C, NP_057637.2:p.Lys381Thr, NP_036478.2:p.Lys381Thr, NP_714941.1:p.Lys381Thr, NP_714940.1:p.Lys381Thr, NP_001180286.1:p.Lys381Thr

Select item 146040672012.

rs1460406720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49908912 (GRCh38)
19:50412169 (GRCh37)
Canonical SPDI:: NC_000019.10:49908911:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.49908912G>A, NC_000019.9:g.50412169G>A, NG_021170.1:g.25594C>T, NG_023448.1:g.25820C>T, NM_016553.5:c.896C>T, NM_016553.4:c.896C>T, NM_012346.5:c.896C>T, NM_012346.4:c.896C>T, NM_153719.4:c.896C>T, NM_153719.3:c.896C>T, NM_153718.4:c.896C>T, NM_153718.3:c.896C>T, NM_001193357.2:c.896C>T, NM_001193357.1:c.896C>T, NP_057637.2:p.Pro299Leu, NP_036478.2:p.Pro299Leu, NP_714941.1:p.Pro299Leu, NP_714940.1:p.Pro299Leu, NP_001180286.1:p.Pro299Leu

Select item 145958821913.

rs1459588219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49909579 (GRCh38)
19:50412836 (GRCh37)
Canonical SPDI:: NC_000019.10:49909578:C:T
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49909579C>T, NC_000019.9:g.50412836C>T, NG_021170.1:g.24927G>A, NG_023448.1:g.25153G>A, NM_016553.5:c.229G>A, NM_016553.4:c.229G>A, NM_012346.5:c.229G>A, NM_012346.4:c.229G>A, NM_153719.4:c.229G>A, NM_153719.3:c.229G>A, NM_153718.4:c.229G>A, NM_153718.3:c.229G>A, NM_001193357.2:c.229G>A, NM_001193357.1:c.229G>A, NP_057637.2:p.Gly77Arg, NP_036478.2:p.Gly77Arg, NP_714941.1:p.Gly77Arg, NP_714940.1:p.Gly77Arg, NP_001180286.1:p.Gly77Arg

Select item 145661020114.

rs1456610201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49909743 (GRCh38)
19:50413000 (GRCh37)
Canonical SPDI:: NC_000019.10:49909742:T:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49909743T>C, NC_000019.9:g.50413000T>C, NG_021170.1:g.24763A>G, NG_023448.1:g.24989A>G, NM_016553.5:c.65A>G, NM_016553.4:c.65A>G, NM_012346.5:c.65A>G, NM_012346.4:c.65A>G, NM_153719.4:c.65A>G, NM_153719.3:c.65A>G, NM_153718.4:c.65A>G, NM_153718.3:c.65A>G, NM_001193357.2:c.65A>G, NM_001193357.1:c.65A>G, NP_057637.2:p.Lys22Arg, NP_036478.2:p.Lys22Arg, NP_714941.1:p.Lys22Arg, NP_714940.1:p.Lys22Arg, NP_001180286.1:p.Lys22Arg

Select item 145364710415.

rs1453647104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49909482 (GRCh38)
19:50412739 (GRCh37)
Canonical SPDI:: NC_000019.10:49909481:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49909482G>A, NC_000019.9:g.50412739G>A, NG_021170.1:g.25024C>T, NG_023448.1:g.25250C>T, NM_016553.5:c.326C>T, NM_016553.4:c.326C>T, NM_012346.5:c.326C>T, NM_012346.4:c.326C>T, NM_153719.4:c.326C>T, NM_153719.3:c.326C>T, NM_153718.4:c.326C>T, NM_153718.3:c.326C>T, NM_001193357.2:c.326C>T, NM_001193357.1:c.326C>T, NP_057637.2:p.Ala109Val, NP_036478.2:p.Ala109Val, NP_714941.1:p.Ala109Val, NP_714940.1:p.Ala109Val, NP_001180286.1:p.Ala109Val

Select item 145352795116.

rs1453527951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49908921 (GRCh38)
19:50412178 (GRCh37)
Canonical SPDI:: NC_000019.10:49908920:G:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.49908921G>A, NC_000019.9:g.50412178G>A, NG_021170.1:g.25585C>T, NG_023448.1:g.25811C>T, NM_016553.5:c.887C>T, NM_016553.4:c.887C>T, NM_012346.5:c.887C>T, NM_012346.4:c.887C>T, NM_153719.4:c.887C>T, NM_153719.3:c.887C>T, NM_153718.4:c.887C>T, NM_153718.3:c.887C>T, NM_001193357.2:c.887C>T, NM_001193357.1:c.887C>T, NP_057637.2:p.Pro296Leu, NP_036478.2:p.Pro296Leu, NP_714941.1:p.Pro296Leu, NP_714940.1:p.Pro296Leu, NP_001180286.1:p.Pro296Leu

Select item 145087623217.

rs1450876232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49908285 (GRCh38)
19:50411542 (GRCh37)
Canonical SPDI:: NC_000019.10:49908284:C:T
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.49908285C>T, NC_000019.9:g.50411542C>T, NG_021170.1:g.26221G>A, NG_023448.1:g.26447G>A, NM_016553.5:c.1523G>A, NM_016553.4:c.1523G>A, NM_012346.5:c.1523G>A, NM_012346.4:c.1523G>A, NM_153719.4:c.1523G>A, NM_153719.3:c.1523G>A, NM_153718.4:c.1523G>A, NM_153718.3:c.1523G>A, NM_001193357.2:c.1523G>A, NM_001193357.1:c.1523G>A, NP_057637.2:p.Gly508Asp, NP_036478.2:p.Gly508Asp, NP_714941.1:p.Gly508Asp, NP_714940.1:p.Gly508Asp, NP_001180286.1:p.Gly508Asp

Select item 145035205518.

rs1450352055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49908677 (GRCh38)
19:50411934 (GRCh37)
Canonical SPDI:: NC_000019.10:49908676:G:A,NC_000019.10:49908676:G:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000033/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49908677G>A, NC_000019.10:g.49908677G>C, NC_000019.9:g.50411934G>A, NC_000019.9:g.50411934G>C, NG_021170.1:g.25829C>T, NG_021170.1:g.25829C>G, NG_023448.1:g.26055C>T, NG_023448.1:g.26055C>G, NM_016553.5:c.1131C>T, NM_016553.5:c.1131C>G, NM_016553.4:c.1131C>T, NM_016553.4:c.1131C>G, NM_012346.5:c.1131C>T, NM_012346.5:c.1131C>G, NM_012346.4:c.1131C>T, NM_012346.4:c.1131C>G, NM_153719.4:c.1131C>T, NM_153719.4:c.1131C>G, NM_153719.3:c.1131C>T, NM_153719.3:c.1131C>G, NM_153718.4:c.1131C>T, NM_153718.4:c.1131C>G, NM_153718.3:c.1131C>T, NM_153718.3:c.1131C>G, NM_001193357.2:c.1131C>T, NM_001193357.2:c.1131C>G, NM_001193357.1:c.1131C>T, NM_001193357.1:c.1131C>G

Select item 144791167819.

rs1447911678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49909217 (GRCh38)
19:50412474 (GRCh37)
Canonical SPDI:: NC_000019.10:49909216:G:T
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49909217G>T, NC_000019.9:g.50412474G>T, NG_021170.1:g.25289C>A, NG_023448.1:g.25515C>A, NM_016553.5:c.591C>A, NM_016553.4:c.591C>A, NM_012346.5:c.591C>A, NM_012346.4:c.591C>A, NM_153719.4:c.591C>A, NM_153719.3:c.591C>A, NM_153718.4:c.591C>A, NM_153718.3:c.591C>A, NM_001193357.2:c.591C>A, NM_001193357.1:c.591C>A

Select item 144570644120.

rs1445706441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49908888 (GRCh38)
19:50412145 (GRCh37)
Canonical SPDI:: NC_000019.10:49908887:G:T
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000019.10:g.49908888G>T, NC_000019.9:g.50412145G>T, NG_021170.1:g.25618C>A, NG_023448.1:g.25844C>A, NM_016553.5:c.920C>A, NM_016553.4:c.920C>A, NM_012346.5:c.920C>A, NM_012346.4:c.920C>A, NM_153719.4:c.920C>A, NM_153719.3:c.920C>A, NM_153718.4:c.920C>A, NM_153718.3:c.920C>A, NM_001193357.2:c.920C>A, NM_001193357.1:c.920C>A, NP_057637.2:p.Ala307Glu, NP_036478.2:p.Ala307Glu, NP_714941.1:p.Ala307Glu, NP_714940.1:p.Ala307Glu, NP_001180286.1:p.Ala307Glu

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 603

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity