SNP Links for Protein (Select 39725952) - SNP

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Links from Protein

Items: 1 to 20 of 717

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Select item 14904898171.

rs1490489817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:77030931 (GRCh38)
5:76326756 (GRCh37)
Canonical SPDI:: NC_000005.10:77030930:G:A,NC_000005.10:77030930:G:C
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.77030931G>A, NC_000005.10:g.77030931G>C, NC_000005.9:g.76326756G>A, NC_000005.9:g.76326756G>C, NG_027822.1:g.5547G>A, NG_027822.1:g.5547G>C, NM_018046.5:c.165G>A, NM_018046.5:c.165G>C, NM_018046.4:c.165G>A, NM_018046.4:c.165G>C, NM_013303.1:c.165G>A, NM_013303.1:c.165G>C, NM_138490.1:c.165G>A, NM_138490.1:c.165G>C

Select item 14892463432.

rs1489246343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77054106 (GRCh38)
5:76349931 (GRCh37)
Canonical SPDI:: NC_000005.10:77054105:C:T
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77054106C>T, NC_000005.9:g.76349931C>T, NG_027822.1:g.28722C>T, NM_018046.5:c.1609C>T, NM_018046.4:c.1609C>T, NP_060516.2:p.Leu537Phe

Select item 14890430113.

rs1489043011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77059628 (GRCh38)
5:76355453 (GRCh37)
Canonical SPDI:: NC_000005.10:77059627:G:A
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000005.10:g.77059628G>A, NC_000005.9:g.76355453G>A, NG_027822.1:g.34244G>A, NM_018046.5:c.1729G>A, NM_018046.4:c.1729G>A, NP_060516.2:p.Glu577Lys

Select item 14890106564.

rs1489010656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77063113 (GRCh38)
5:76358938 (GRCh37)
Canonical SPDI:: NC_000005.10:77063112:A:G
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77063113A>G, NC_000005.9:g.76358938A>G, NG_027822.1:g.37729A>G, NM_018046.5:c.2006A>G, NM_018046.4:c.2006A>G, NP_060516.2:p.Glu669Gly

Select item 14873311925.

rs1487331192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77061717 (GRCh38)
5:76357542 (GRCh37)
Canonical SPDI:: NC_000005.10:77061716:G:A
Gene:: AGGF1 (Varview)
Functional Consequence:: 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_000005.10:g.77061717G>A, NC_000005.9:g.76357542G>A, NG_027822.1:g.36333G>A, NM_018046.5:c.1859G>A, NM_018046.4:c.1859G>A, NP_060516.2:p.Ser620Asn

Select item 14852531386.

rs1485253138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77036584 (GRCh38)
5:76332409 (GRCh37)
Canonical SPDI:: NC_000005.10:77036583:A:G
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77036584A>G, NC_000005.9:g.76332409A>G, NG_027822.1:g.11200A>G, NM_018046.5:c.545A>G, NM_018046.4:c.545A>G, NP_060516.2:p.Asp182Gly

Select item 14847664507.

rs1484766450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:77059730 (GRCh38)
5:76355555 (GRCh37)
Canonical SPDI:: NC_000005.10:77059729:G:A,NC_000005.10:77059729:G:C
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77059730G>A, NC_000005.10:g.77059730G>C, NC_000005.9:g.76355555G>A, NC_000005.9:g.76355555G>C, NG_027822.1:g.34346G>A, NG_027822.1:g.34346G>C, NM_018046.5:c.1831G>A, NM_018046.5:c.1831G>C, NM_018046.4:c.1831G>A, NM_018046.4:c.1831G>C, NP_060516.2:p.Ala611Thr, NP_060516.2:p.Ala611Pro

Select item 14835924788.

rs1483592478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77030885 (GRCh38)
5:76326710 (GRCh37)
Canonical SPDI:: NC_000005.10:77030884:A:G
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77030885A>G, NC_000005.9:g.76326710A>G, NG_027822.1:g.5501A>G, NM_018046.5:c.119A>G, NM_018046.4:c.119A>G, NM_013303.1:c.119A>G, NM_138490.1:c.119A>G, NP_060516.2:p.Lys40Arg

Select item 14824837569.

rs1482483756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:77046355 (GRCh38)
5:76342180 (GRCh37)
Canonical SPDI:: NC_000005.10:77046354:C:A,NC_000005.10:77046354:C:T
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000005.10:g.77046355C>A, NC_000005.10:g.77046355C>T, NC_000005.9:g.76342180C>A, NC_000005.9:g.76342180C>T, NG_027822.1:g.20971C>A, NG_027822.1:g.20971C>T, NM_018046.5:c.879C>A, NM_018046.5:c.879C>T, NM_018046.4:c.879C>A, NM_018046.4:c.879C>T, NP_060516.2:p.Asn293Lys

Select item 148247954010.

rs1482479540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77061766 (GRCh38)
5:76357591 (GRCh37)
Canonical SPDI:: NC_000005.10:77061765:G:A
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.77061766G>A, NC_000005.9:g.76357591G>A, NG_027822.1:g.36382G>A, NM_018046.5:c.1908G>A, NM_018046.4:c.1908G>A

Select item 148145716011.

rs1481457160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77048252 (GRCh38)
5:76344077 (GRCh37)
Canonical SPDI:: NC_000005.10:77048251:A:G
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.77048252A>G, NC_000005.9:g.76344077A>G, NG_027822.1:g.22868A>G, NM_018046.5:c.1293A>G, NM_018046.4:c.1293A>G

Select item 147680922512.

rs1476809225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:77039551 (GRCh38)
5:76335376 (GRCh37)
Canonical SPDI:: NC_000005.10:77039550:T:A
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77039551T>A, NC_000005.9:g.76335376T>A, NG_027822.1:g.14167T>A, NM_018046.5:c.702T>A, NM_018046.4:c.702T>A, NP_060516.2:p.Asp234Glu

Select item 147631680513.

rs1476316805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77046598 (GRCh38)
5:76342423 (GRCh37)
Canonical SPDI:: NC_000005.10:77046597:A:G
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.77046598A>G, NC_000005.9:g.76342423A>G, NG_027822.1:g.21214A>G, NM_018046.5:c.1122A>G, NM_018046.4:c.1122A>G

Select item 147621645714.

rs1476216457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:77046371 (GRCh38)
5:76342196 (GRCh37)
Canonical SPDI:: NC_000005.10:77046370:G:A,NC_000005.10:77046370:G:C
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.77046371G>A, NC_000005.10:g.77046371G>C, NC_000005.9:g.76342196G>A, NC_000005.9:g.76342196G>C, NG_027822.1:g.20987G>A, NG_027822.1:g.20987G>C, NM_018046.5:c.895G>A, NM_018046.5:c.895G>C, NM_018046.4:c.895G>A, NM_018046.4:c.895G>C, NP_060516.2:p.Ala299Thr, NP_060516.2:p.Ala299Pro

Select item 147431092615.

rs1474310926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:77059676 (GRCh38)
5:76355501 (GRCh37)
Canonical SPDI:: NC_000005.10:77059675:A:C
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77059676A>C, NC_000005.9:g.76355501A>C, NG_027822.1:g.34292A>C, NM_018046.5:c.1777A>C, NM_018046.4:c.1777A>C, NP_060516.2:p.Lys593Gln

Select item 147424959316.

rs1474249593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77048976 (GRCh38)
5:76344801 (GRCh37)
Canonical SPDI:: NC_000005.10:77048975:G:A
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77048976G>A, NC_000005.9:g.76344801G>A, NG_027822.1:g.23592G>A, NM_018046.5:c.1354G>A, NM_018046.4:c.1354G>A, NP_060516.2:p.Gly452Ser

Select item 147101975017.

rs1471019750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:77046564 (GRCh38)
5:76342389 (GRCh37)
Canonical SPDI:: NC_000005.10:77046563:A:C
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.77046564A>C, NC_000005.9:g.76342389A>C, NG_027822.1:g.21180A>C, NM_018046.5:c.1088A>C, NM_018046.4:c.1088A>C, NP_060516.2:p.Glu363Ala

Select item 146949295818.

rs1469492958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:77039675 (GRCh38)
5:76335500 (GRCh37)
Canonical SPDI:: NC_000005.10:77039674:A:T
Gene:: AGGF1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77039675A>T, NC_000005.9:g.76335500A>T, NG_027822.1:g.14291A>T, NM_018046.5:c.826A>T, NM_018046.4:c.826A>T, NP_060516.2:p.Lys276Ter

Select item 146711014419.

rs1467110144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:77055543 (GRCh38)
5:76351368 (GRCh37)
Canonical SPDI:: NC_000005.10:77055542:G:C
Gene:: AGGF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.77055543G>C, NC_000005.9:g.76351368G>C, NG_027822.1:g.30159G>C, NM_018046.5:c.1663G>C, NM_018046.4:c.1663G>C, NP_060516.2:p.Glu555Gln

Select item 146533126120.

rs1465331261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:77035704 (GRCh38)
5:76331529 (GRCh37)
Canonical SPDI:: NC_000005.10:77035703:T:G
Gene:: AGGF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.77035704T>G, NC_000005.9:g.76331529T>G, NG_027822.1:g.10320T>G, NM_018046.5:c.477T>G, NM_018046.4:c.477T>G, NM_013303.1:c.477T>G

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