SNP Links for Protein (Select 578801693) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 3896

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Select item 14909484291.

rs1490948429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201200253 (GRCh38)
1:201169381 (GRCh37)
Canonical SPDI:: NC_000001.11:201200252:A:G
Gene:: IGFN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.201200253A>G, NC_000001.10:g.201169381A>G, XM_005245580.4:c.475A>G, XM_005245580.3:c.475A>G, XM_005245580.2:c.475A>G, XM_005245580.1:c.475A>G, XM_006711618.4:c.475A>G, XM_006711618.3:c.475A>G, XM_006711618.2:c.475A>G, XM_006711618.1:c.475A>G, NM_001164586.2:c.475A>G, NM_001164586.1:c.475A>G, XM_017002787.2:c.475A>G, XM_017002787.1:c.475A>G, NM_001367841.1:c.475A>G, XP_005245637.1:p.Lys159Glu, XP_006711681.1:p.Lys159Glu, NP_001158058.1:p.Lys159Glu, XP_016858276.1:p.Lys159Glu, NP_001354770.1:p.Lys159Glu

Select item 14908180112.

rs1490818011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:201209568 (GRCh38)
1:201178696 (GRCh37)
Canonical SPDI:: NC_000001.11:201209567:G:C,NC_000001.11:201209567:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00042/11 (TOMMO)
C=0.03114/91 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.201209568G>C, NC_000001.11:g.201209568G>T, NC_000001.10:g.201178696G>C, NC_000001.10:g.201178696G>T, XM_005245580.4:c.4675G>C, XM_005245580.4:c.4675G>T, XM_005245580.3:c.4675G>C, XM_005245580.3:c.4675G>T, XM_005245580.2:c.4675G>C, XM_005245580.2:c.4675G>T, XM_005245580.1:c.4675G>C, XM_005245580.1:c.4675G>T, XM_006711618.4:c.4675G>C, XM_006711618.4:c.4675G>T, XM_006711618.3:c.4675G>C, XM_006711618.3:c.4675G>T, XM_006711618.2:c.4675G>C, XM_006711618.2:c.4675G>T, XM_006711618.1:c.4675G>C, XM_006711618.1:c.4675G>T, NM_001164586.2:c.4675G>C, NM_001164586.2:c.4675G>T, NM_001164586.1:c.4675G>C, NM_001164586.1:c.4675G>T, XM_017002787.2:c.4402G>C, XM_017002787.2:c.4402G>T, XM_017002787.1:c.4402G>C, XM_017002787.1:c.4402G>T, XP_005245637.1:p.Gly1559Arg, XP_005245637.1:p.Gly1559Trp, XP_006711681.1:p.Gly1559Arg, XP_006711681.1:p.Gly1559Trp, NP_001158058.1:p.Gly1559Arg, NP_001158058.1:p.Gly1559Trp, XP_016858276.1:p.Gly1468Arg, XP_016858276.1:p.Gly1468Trp

Select item 14906414013.

rs1490641401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201210877 (GRCh38)
1:201180005 (GRCh37)
Canonical SPDI:: NC_000001.11:201210876:A:G
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_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_000001.11:g.201210877A>G, NC_000001.10:g.201180005A>G, XM_005245580.4:c.5984A>G, XM_005245580.3:c.5984A>G, XM_005245580.2:c.5984A>G, XM_005245580.1:c.5984A>G, XM_006711618.4:c.5984A>G, XM_006711618.3:c.5984A>G, XM_006711618.2:c.5984A>G, XM_006711618.1:c.5984A>G, NM_001164586.2:c.5984A>G, NM_001164586.1:c.5984A>G, XM_017002787.2:c.5711A>G, XM_017002787.1:c.5711A>G, XP_005245637.1:p.Glu1995Gly, XP_006711681.1:p.Glu1995Gly, NP_001158058.1:p.Glu1995Gly, XP_016858276.1:p.Glu1904Gly

Select item 14905146194.

rs1490514619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201210039 (GRCh38)
1:201179167 (GRCh37)
Canonical SPDI:: NC_000001.11:201210038:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201210039G>T, NC_000001.10:g.201179167G>T, XM_005245580.4:c.5146G>T, XM_005245580.3:c.5146G>T, XM_005245580.2:c.5146G>T, XM_005245580.1:c.5146G>T, XM_006711618.4:c.5146G>T, XM_006711618.3:c.5146G>T, XM_006711618.2:c.5146G>T, XM_006711618.1:c.5146G>T, NM_001164586.2:c.5146G>T, NM_001164586.1:c.5146G>T, XM_017002787.2:c.4873G>T, XM_017002787.1:c.4873G>T, XP_005245637.1:p.Ala1716Ser, XP_006711681.1:p.Ala1716Ser, NP_001158058.1:p.Ala1716Ser, XP_016858276.1:p.Ala1625Ser

Select item 14900950495.

rs1490095049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:201210362 (GRCh38)
1:201179490 (GRCh37)
Canonical SPDI:: NC_000001.11:201210361:G:A,NC_000001.11:201210361:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
A=0.00004/2 (GnomAD)
HGVS:: NC_000001.11:g.201210362G>A, NC_000001.11:g.201210362G>T, NC_000001.10:g.201179490G>A, NC_000001.10:g.201179490G>T, XM_005245580.4:c.5469G>A, XM_005245580.4:c.5469G>T, XM_005245580.3:c.5469G>A, XM_005245580.3:c.5469G>T, XM_005245580.2:c.5469G>A, XM_005245580.2:c.5469G>T, XM_005245580.1:c.5469G>A, XM_005245580.1:c.5469G>T, XM_006711618.4:c.5469G>A, XM_006711618.4:c.5469G>T, XM_006711618.3:c.5469G>A, XM_006711618.3:c.5469G>T, XM_006711618.2:c.5469G>A, XM_006711618.2:c.5469G>T, XM_006711618.1:c.5469G>A, XM_006711618.1:c.5469G>T, NM_001164586.2:c.5469G>A, NM_001164586.2:c.5469G>T, NM_001164586.1:c.5469G>A, NM_001164586.1:c.5469G>T, XM_017002787.2:c.5196G>A, XM_017002787.2:c.5196G>T, XM_017002787.1:c.5196G>A, XM_017002787.1:c.5196G>T

Select item 14900234976.

rs1490023497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:201209821 (GRCh38)
1:201178949 (GRCh37)
Canonical SPDI:: NC_000001.11:201209820:G:C
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.201209821G>C, NC_000001.10:g.201178949G>C, XM_005245580.4:c.4928G>C, XM_005245580.3:c.4928G>C, XM_005245580.2:c.4928G>C, XM_005245580.1:c.4928G>C, XM_006711618.4:c.4928G>C, XM_006711618.3:c.4928G>C, XM_006711618.2:c.4928G>C, XM_006711618.1:c.4928G>C, NM_001164586.2:c.4928G>C, NM_001164586.1:c.4928G>C, XM_017002787.2:c.4655G>C, XM_017002787.1:c.4655G>C, XP_005245637.1:p.Gly1643Ala, XP_006711681.1:p.Gly1643Ala, NP_001158058.1:p.Gly1643Ala, XP_016858276.1:p.Gly1552Ala

Select item 14898393487.

rs1489839348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201207762 (GRCh38)
1:201176890 (GRCh37)
Canonical SPDI:: NC_000001.11:201207761:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201207762G>T, NC_000001.10:g.201176890G>T, XM_005245580.4:c.2869G>T, XM_005245580.3:c.2869G>T, XM_005245580.2:c.2869G>T, XM_005245580.1:c.2869G>T, XM_006711618.4:c.2869G>T, XM_006711618.3:c.2869G>T, XM_006711618.2:c.2869G>T, XM_006711618.1:c.2869G>T, NM_001164586.2:c.2869G>T, NM_001164586.1:c.2869G>T, XM_017002787.2:c.2596G>T, XM_017002787.1:c.2596G>T, XP_005245637.1:p.Gly957Cys, XP_006711681.1:p.Gly957Cys, NP_001158058.1:p.Gly957Cys, XP_016858276.1:p.Gly866Cys

Select item 14897140908.

rs1489714090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201205154 (GRCh38)
1:201174282 (GRCh37)
Canonical SPDI:: NC_000001.11:201205153:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201205154G>T, NC_000001.10:g.201174282G>T, XM_005245580.4:c.989G>T, XM_005245580.3:c.989G>T, XM_005245580.2:c.989G>T, XM_005245580.1:c.989G>T, XM_006711618.4:c.989G>T, XM_006711618.3:c.989G>T, XM_006711618.2:c.989G>T, XM_006711618.1:c.989G>T, NM_001164586.2:c.989G>T, NM_001164586.1:c.989G>T, NM_001367841.1:c.989G>T, XP_005245637.1:p.Cys330Phe, XP_006711681.1:p.Cys330Phe, NP_001158058.1:p.Cys330Phe, NP_001354770.1:p.Cys330Phe

Select item 14896033739.

rs1489603373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:201209007 (GRCh38)
1:201178135 (GRCh37)
Canonical SPDI:: NC_000001.11:201209006:T:A
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_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_000001.11:g.201209007T>A, NC_000001.10:g.201178135T>A, XM_005245580.4:c.4114T>A, XM_005245580.3:c.4114T>A, XM_005245580.2:c.4114T>A, XM_005245580.1:c.4114T>A, XM_006711618.4:c.4114T>A, XM_006711618.3:c.4114T>A, XM_006711618.2:c.4114T>A, XM_006711618.1:c.4114T>A, NM_001164586.2:c.4114T>A, NM_001164586.1:c.4114T>A, XM_017002787.2:c.3841T>A, XM_017002787.1:c.3841T>A, XP_005245637.1:p.Ser1372Thr, XP_006711681.1:p.Ser1372Thr, NP_001158058.1:p.Ser1372Thr, XP_016858276.1:p.Ser1281Thr

Select item 148945421210.

rs1489454212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:201212157 (GRCh38)
1:201181285 (GRCh37)
Canonical SPDI:: NC_000001.11:201212156:G:A,NC_000001.11:201212156:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD_exomes)
T=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.201212157G>A, NC_000001.11:g.201212157G>T, NC_000001.10:g.201181285G>A, NC_000001.10:g.201181285G>T, XM_005245580.4:c.7264G>A, XM_005245580.4:c.7264G>T, XM_005245580.3:c.7264G>A, XM_005245580.3:c.7264G>T, XM_005245580.2:c.7264G>A, XM_005245580.2:c.7264G>T, XM_005245580.1:c.7264G>A, XM_005245580.1:c.7264G>T, XM_006711618.4:c.7264G>A, XM_006711618.4:c.7264G>T, XM_006711618.3:c.7264G>A, XM_006711618.3:c.7264G>T, XM_006711618.2:c.7264G>A, XM_006711618.2:c.7264G>T, XM_006711618.1:c.7264G>A, XM_006711618.1:c.7264G>T, NM_001164586.2:c.7264G>A, NM_001164586.2:c.7264G>T, NM_001164586.1:c.7264G>A, NM_001164586.1:c.7264G>T, XM_017002787.2:c.6991G>A, XM_017002787.2:c.6991G>T, XM_017002787.1:c.6991G>A, XM_017002787.1:c.6991G>T, XP_005245637.1:p.Val2422Met, XP_005245637.1:p.Val2422Leu, XP_006711681.1:p.Val2422Met, XP_006711681.1:p.Val2422Leu, NP_001158058.1:p.Val2422Met, NP_001158058.1:p.Val2422Leu, XP_016858276.1:p.Val2331Met, XP_016858276.1:p.Val2331Leu

Select item 148934352811.

rs1489343528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:201211924 (GRCh38)
1:201181052 (GRCh37)
Canonical SPDI:: NC_000001.11:201211923:C:G,NC_000001.11:201211923:C:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.201211924C>G, NC_000001.11:g.201211924C>T, NC_000001.10:g.201181052C>G, NC_000001.10:g.201181052C>T, XM_005245580.4:c.7031C>G, XM_005245580.4:c.7031C>T, XM_005245580.3:c.7031C>G, XM_005245580.3:c.7031C>T, XM_005245580.2:c.7031C>G, XM_005245580.2:c.7031C>T, XM_005245580.1:c.7031C>G, XM_005245580.1:c.7031C>T, XM_006711618.4:c.7031C>G, XM_006711618.4:c.7031C>T, XM_006711618.3:c.7031C>G, XM_006711618.3:c.7031C>T, XM_006711618.2:c.7031C>G, XM_006711618.2:c.7031C>T, XM_006711618.1:c.7031C>G, XM_006711618.1:c.7031C>T, NM_001164586.2:c.7031C>G, NM_001164586.2:c.7031C>T, NM_001164586.1:c.7031C>G, NM_001164586.1:c.7031C>T, XM_017002787.2:c.6758C>G, XM_017002787.2:c.6758C>T, XM_017002787.1:c.6758C>G, XM_017002787.1:c.6758C>T, XP_005245637.1:p.Ser2344Ter, XP_005245637.1:p.Ser2344Leu, XP_006711681.1:p.Ser2344Ter, XP_006711681.1:p.Ser2344Leu, NP_001158058.1:p.Ser2344Ter, NP_001158058.1:p.Ser2344Leu, XP_016858276.1:p.Ser2253Ter, XP_016858276.1:p.Ser2253Leu

Select item 148909523012.

rs1489095230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201211498 (GRCh38)
1:201180626 (GRCh37)
Canonical SPDI:: NC_000001.11:201211497:G:A
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201211498G>A, NC_000001.10:g.201180626G>A, XM_005245580.4:c.6605G>A, XM_005245580.3:c.6605G>A, XM_005245580.2:c.6605G>A, XM_005245580.1:c.6605G>A, XM_006711618.4:c.6605G>A, XM_006711618.3:c.6605G>A, XM_006711618.2:c.6605G>A, XM_006711618.1:c.6605G>A, NM_001164586.2:c.6605G>A, NM_001164586.1:c.6605G>A, XM_017002787.2:c.6332G>A, XM_017002787.1:c.6332G>A, XP_005245637.1:p.Gly2202Asp, XP_006711681.1:p.Gly2202Asp, NP_001158058.1:p.Gly2202Asp, XP_016858276.1:p.Gly2111Asp

Select item 148907330813.

rs1489073308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201208613 (GRCh38)
1:201177741 (GRCh37)
Canonical SPDI:: NC_000001.11:201208612:G:A
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.201208613G>A, NC_000001.10:g.201177741G>A, XM_005245580.4:c.3720G>A, XM_005245580.3:c.3720G>A, XM_005245580.2:c.3720G>A, XM_005245580.1:c.3720G>A, XM_006711618.4:c.3720G>A, XM_006711618.3:c.3720G>A, XM_006711618.2:c.3720G>A, XM_006711618.1:c.3720G>A, NM_001164586.2:c.3720G>A, NM_001164586.1:c.3720G>A, XM_017002787.2:c.3447G>A, XM_017002787.1:c.3447G>A

Select item 148891945914.

rs1488919459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:201211470 (GRCh38)
1:201180598 (GRCh37)
Canonical SPDI:: NC_000001.11:201211469:A:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.201211470A>T, NC_000001.10:g.201180598A>T, XM_005245580.4:c.6577A>T, XM_005245580.3:c.6577A>T, XM_005245580.2:c.6577A>T, XM_005245580.1:c.6577A>T, XM_006711618.4:c.6577A>T, XM_006711618.3:c.6577A>T, XM_006711618.2:c.6577A>T, XM_006711618.1:c.6577A>T, NM_001164586.2:c.6577A>T, NM_001164586.1:c.6577A>T, XM_017002787.2:c.6304A>T, XM_017002787.1:c.6304A>T, XP_005245637.1:p.Lys2193Ter, XP_006711681.1:p.Lys2193Ter, NP_001158058.1:p.Lys2193Ter, XP_016858276.1:p.Lys2102Ter

Select item 148890922915.

rs1488909229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201206344 (GRCh38)
1:201175472 (GRCh37)
Canonical SPDI:: NC_000001.11:201206343:G:T
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000001.11:g.201206344G>T, NC_000001.10:g.201175472G>T, XM_005245580.4:c.1451G>T, XM_005245580.3:c.1451G>T, XM_005245580.2:c.1451G>T, XM_005245580.1:c.1451G>T, XM_006711618.4:c.1451G>T, XM_006711618.3:c.1451G>T, XM_006711618.2:c.1451G>T, XM_006711618.1:c.1451G>T, NM_001164586.2:c.1451G>T, NM_001164586.1:c.1451G>T, XM_017002787.2:c.1178G>T, XM_017002787.1:c.1178G>T, XP_005245637.1:p.Gly484Val, XP_006711681.1:p.Gly484Val, NP_001158058.1:p.Gly484Val, XP_016858276.1:p.Gly393Val

Select item 148811313216.

rs1488113132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:201211235 (GRCh38)
1:201180363 (GRCh37)
Canonical SPDI:: NC_000001.11:201211234:G:A,NC_000001.11:201211234:G:C
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201211235G>A, NC_000001.11:g.201211235G>C, NC_000001.10:g.201180363G>A, NC_000001.10:g.201180363G>C, XM_005245580.4:c.6342G>A, XM_005245580.4:c.6342G>C, XM_005245580.3:c.6342G>A, XM_005245580.3:c.6342G>C, XM_005245580.2:c.6342G>A, XM_005245580.2:c.6342G>C, XM_005245580.1:c.6342G>A, XM_005245580.1:c.6342G>C, XM_006711618.4:c.6342G>A, XM_006711618.4:c.6342G>C, XM_006711618.3:c.6342G>A, XM_006711618.3:c.6342G>C, XM_006711618.2:c.6342G>A, XM_006711618.2:c.6342G>C, XM_006711618.1:c.6342G>A, XM_006711618.1:c.6342G>C, NM_001164586.2:c.6342G>A, NM_001164586.2:c.6342G>C, NM_001164586.1:c.6342G>A, NM_001164586.1:c.6342G>C, XM_017002787.2:c.6069G>A, XM_017002787.2:c.6069G>C, XM_017002787.1:c.6069G>A, XM_017002787.1:c.6069G>C, XP_005245637.1:p.Glu2114Asp, XP_006711681.1:p.Glu2114Asp, NP_001158058.1:p.Glu2114Asp, XP_016858276.1:p.Glu2023Asp

Select item 148782332817.

rs1487823328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201197312 (GRCh38)
1:201166440 (GRCh37)
Canonical SPDI:: NC_000001.11:201197311:T:C
Gene:: IGFN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201197312T>C, NC_000001.10:g.201166440T>C, XM_005245580.4:c.362T>C, XM_005245580.3:c.362T>C, XM_005245580.2:c.362T>C, XM_005245580.1:c.362T>C, XM_006711618.4:c.362T>C, XM_006711618.3:c.362T>C, XM_006711618.2:c.362T>C, XM_006711618.1:c.362T>C, NM_001164586.2:c.362T>C, NM_001164586.1:c.362T>C, XM_017002787.2:c.362T>C, XM_017002787.1:c.362T>C, NM_001367841.1:c.362T>C, XP_005245637.1:p.Ile121Thr, XP_006711681.1:p.Ile121Thr, NP_001158058.1:p.Ile121Thr, XP_016858276.1:p.Ile121Thr, NP_001354770.1:p.Ile121Thr

Select item 148766887018.

rs1487668870 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:201205354 (GRCh38)
1:201174482 (GRCh37)
Canonical SPDI:: NC_000001.11:201205353:GG:G
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201205355del, NC_000001.10:g.201174483del

Select item 148710140619.

rs1487101406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201210253 (GRCh38)
1:201179381 (GRCh37)
Canonical SPDI:: NC_000001.11:201210252:G:A
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.201210253G>A, NC_000001.10:g.201179381G>A, XM_005245580.4:c.5360G>A, XM_005245580.3:c.5360G>A, XM_005245580.2:c.5360G>A, XM_005245580.1:c.5360G>A, XM_006711618.4:c.5360G>A, XM_006711618.3:c.5360G>A, XM_006711618.2:c.5360G>A, XM_006711618.1:c.5360G>A, NM_001164586.2:c.5360G>A, NM_001164586.1:c.5360G>A, XM_017002787.2:c.5087G>A, XM_017002787.1:c.5087G>A, XP_005245637.1:p.Trp1787Ter, XP_006711681.1:p.Trp1787Ter, NP_001158058.1:p.Trp1787Ter, XP_016858276.1:p.Trp1696Ter

Select item 148662106920.

rs1486621069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:201207543 (GRCh38)
1:201176671 (GRCh37)
Canonical SPDI:: NC_000001.11:201207542:G:C
Gene:: IGFN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201207543G>C, NC_000001.10:g.201176671G>C, XM_005245580.4:c.2650G>C, XM_005245580.3:c.2650G>C, XM_005245580.2:c.2650G>C, XM_005245580.1:c.2650G>C, XM_006711618.4:c.2650G>C, XM_006711618.3:c.2650G>C, XM_006711618.2:c.2650G>C, XM_006711618.1:c.2650G>C, NM_001164586.2:c.2650G>C, NM_001164586.1:c.2650G>C, XM_017002787.2:c.2377G>C, XM_017002787.1:c.2377G>C, XP_005245637.1:p.Asp884His, XP_006711681.1:p.Asp884His, NP_001158058.1:p.Asp884His, XP_016858276.1:p.Asp793His

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