SNP Links for Protein (Select 73486661) - SNP

Select item 14885487341.

rs1488548734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150857050 (GRCh38)
7:150554138 (GRCh37)
Canonical SPDI:: NC_000007.14:150857049:T:G
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150857050T>G, NC_000007.13:g.150554138T>G, NM_001091.4:c.580T>G, NM_001091.3:c.580T>G, XM_017011946.3:c.580T>G, XM_017011946.2:c.580T>G, XM_017011946.1:c.580T>G, XM_017011945.2:c.580T>G, XM_017011945.1:c.580T>G, NM_001272072.2:c.580T>G, NM_001272072.1:c.580T>G, XM_017011947.2:c.580T>G, XM_017011947.1:c.580T>G, XM_047420128.1:c.580T>G, NP_001082.2:p.Ser194Ala, XP_016867435.1:p.Ser194Ala, XP_016867434.1:p.Ser194Ala, NP_001259001.1:p.Ser194Ala, XP_016867436.1:p.Ser194Ala, XP_047276084.1:p.Ser194Ala

Select item 14884992522.

rs1488499252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150857610 (GRCh38)
7:150554698 (GRCh37)
Canonical SPDI:: NC_000007.14:150857609:C:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150857610C>T, NC_000007.13:g.150554698C>T, NM_001091.4:c.1140C>T, NM_001091.3:c.1140C>T, XM_017011946.3:c.1140C>T, XM_017011946.2:c.1140C>T, XM_017011946.1:c.1140C>T, XM_017011945.2:c.1140C>T, XM_017011945.1:c.1140C>T, NM_001272072.2:c.1140C>T, NM_001272072.1:c.1140C>T, XM_017011947.2:c.1140C>T, XM_017011947.1:c.1140C>T, XM_047420128.1:c.1140C>T

Select item 14881429523.

rs1488142952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:150860603 (GRCh38)
7:150557691 (GRCh37)
Canonical SPDI:: NC_000007.14:150860602:T:A,NC_000007.14:150860602:T:C
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150860603T>A, NC_000007.14:g.150860603T>C, NC_000007.13:g.150557691T>A, NC_000007.13:g.150557691T>C, NM_001091.4:c.1959T>A, NM_001091.4:c.1959T>C, NM_001091.3:c.1959T>A, NM_001091.3:c.1959T>C, XM_017011946.3:c.2016T>A, XM_017011946.3:c.2016T>C, XM_017011946.2:c.2016T>A, XM_017011946.2:c.2016T>C, XM_017011946.1:c.2016T>A, XM_017011946.1:c.2016T>C, XM_017011945.2:c.2016T>A, XM_017011945.2:c.2016T>C, XM_017011945.1:c.2016T>A, XM_017011945.1:c.2016T>C, NM_001272072.2:c.2016T>A, NM_001272072.2:c.2016T>C, NM_001272072.1:c.2016T>A, NM_001272072.1:c.2016T>C, XM_017011947.2:c.1959T>A, XM_017011947.2:c.1959T>C, XM_017011947.1:c.1959T>A, XM_017011947.1:c.1959T>C, XM_047420128.1:c.1959T>A, XM_047420128.1:c.1959T>C, NP_001082.2:p.Phe653Leu, XP_016867435.1:p.Phe672Leu, XP_016867434.1:p.Phe672Leu, NP_001259001.1:p.Phe672Leu, XP_016867436.1:p.Phe653Leu, XP_047276084.1:p.Phe653Leu

Select item 14875679644.

rs1487567964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:150856742 (GRCh38)
7:150553830 (GRCh37)
Canonical SPDI:: NC_000007.14:150856741:G:A,NC_000007.14:150856741:G:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150856742G>A, NC_000007.14:g.150856742G>T, NC_000007.13:g.150553830G>A, NC_000007.13:g.150553830G>T, NM_001091.4:c.272G>A, NM_001091.4:c.272G>T, NM_001091.3:c.272G>A, NM_001091.3:c.272G>T, XM_017011946.3:c.272G>A, XM_017011946.3:c.272G>T, XM_017011946.2:c.272G>A, XM_017011946.2:c.272G>T, XM_017011946.1:c.272G>A, XM_017011946.1:c.272G>T, XM_017011945.2:c.272G>A, XM_017011945.2:c.272G>T, XM_017011945.1:c.272G>A, XM_017011945.1:c.272G>T, NM_001272072.2:c.272G>A, NM_001272072.2:c.272G>T, NM_001272072.1:c.272G>A, NM_001272072.1:c.272G>T, XM_017011947.2:c.272G>A, XM_017011947.2:c.272G>T, XM_017011947.1:c.272G>A, XM_017011947.1:c.272G>T, XM_047420128.1:c.272G>A, XM_047420128.1:c.272G>T, NP_001082.2:p.Arg91Lys, NP_001082.2:p.Arg91Met, XP_016867435.1:p.Arg91Lys, XP_016867435.1:p.Arg91Met, XP_016867434.1:p.Arg91Lys, XP_016867434.1:p.Arg91Met, NP_001259001.1:p.Arg91Lys, NP_001259001.1:p.Arg91Met, XP_016867436.1:p.Arg91Lys, XP_016867436.1:p.Arg91Met, XP_047276084.1:p.Arg91Lys, XP_047276084.1:p.Arg91Met

Select item 14875140435.

rs1487514043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:150857393 (GRCh38)
7:150554481 (GRCh37)
Canonical SPDI:: NC_000007.14:150857392:C:G
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150857393C>G, NC_000007.13:g.150554481C>G, NM_001091.4:c.923C>G, NM_001091.3:c.923C>G, XM_017011946.3:c.923C>G, XM_017011946.2:c.923C>G, XM_017011946.1:c.923C>G, XM_017011945.2:c.923C>G, XM_017011945.1:c.923C>G, NM_001272072.2:c.923C>G, NM_001272072.1:c.923C>G, XM_017011947.2:c.923C>G, XM_017011947.1:c.923C>G, XM_047420128.1:c.923C>G, NP_001082.2:p.Pro308Arg, XP_016867435.1:p.Pro308Arg, XP_016867434.1:p.Pro308Arg, NP_001259001.1:p.Pro308Arg, XP_016867436.1:p.Pro308Arg, XP_047276084.1:p.Pro308Arg

Select item 14866404216.

rs1486640421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150857525 (GRCh38)
7:150554613 (GRCh37)
Canonical SPDI:: NC_000007.14:150857524:T:C
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.150857525T>C, NC_000007.13:g.150554613T>C, NM_001091.4:c.1055T>C, NM_001091.3:c.1055T>C, XM_017011946.3:c.1055T>C, XM_017011946.2:c.1055T>C, XM_017011946.1:c.1055T>C, XM_017011945.2:c.1055T>C, XM_017011945.1:c.1055T>C, NM_001272072.2:c.1055T>C, NM_001272072.1:c.1055T>C, XM_017011947.2:c.1055T>C, XM_017011947.1:c.1055T>C, XM_047420128.1:c.1055T>C, NP_001082.2:p.Val352Ala, XP_016867435.1:p.Val352Ala, XP_016867434.1:p.Val352Ala, NP_001259001.1:p.Val352Ala, XP_016867436.1:p.Val352Ala, XP_047276084.1:p.Val352Ala

Select item 14865481787.

rs1486548178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150858784 (GRCh38)
7:150555872 (GRCh37)
Canonical SPDI:: NC_000007.14:150858783:C:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150858784C>T, NC_000007.13:g.150555872C>T, NM_001091.4:c.1592C>T, NM_001091.3:c.1592C>T, XM_017011946.3:c.1592C>T, XM_017011946.2:c.1592C>T, XM_017011946.1:c.1592C>T, XM_017011945.2:c.1592C>T, XM_017011945.1:c.1592C>T, NM_001272072.2:c.1592C>T, NM_001272072.1:c.1592C>T, XM_017011947.2:c.1592C>T, XM_017011947.1:c.1592C>T, XM_047420128.1:c.1592C>T, NP_001082.2:p.Thr531Ile, XP_016867435.1:p.Thr531Ile, XP_016867434.1:p.Thr531Ile, NP_001259001.1:p.Thr531Ile, XP_016867436.1:p.Thr531Ile, XP_047276084.1:p.Thr531Ile

Select item 14859259028.

rs1485925902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:150860965 (GRCh38)
7:150558053 (GRCh37)
Canonical SPDI:: NC_000007.14:150860964:T:C,NC_000007.14:150860964:T:G
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,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)
C=0.000008/2 (GnomAD_exomes)
G=0.001092/2 (Korea1K)
HGVS:: NC_000007.14:g.150860965T>C, NC_000007.14:g.150860965T>G, NC_000007.13:g.150558053T>C, NC_000007.13:g.150558053T>G, NM_001091.4:c.2012T>C, NM_001091.4:c.2012T>G, NM_001091.3:c.2012T>C, NM_001091.3:c.2012T>G, XM_017011946.3:c.2069T>C, XM_017011946.3:c.2069T>G, XM_017011946.2:c.2069T>C, XM_017011946.2:c.2069T>G, XM_017011946.1:c.2069T>C, XM_017011946.1:c.2069T>G, XM_017011945.2:c.2069T>C, XM_017011945.2:c.2069T>G, XM_017011945.1:c.2069T>C, XM_017011945.1:c.2069T>G, NM_001272072.2:c.2069T>C, NM_001272072.2:c.2069T>G, NM_001272072.1:c.2069T>C, NM_001272072.1:c.2069T>G, XM_017011947.2:c.2012T>C, XM_017011947.2:c.2012T>G, XM_017011947.1:c.2012T>C, XM_017011947.1:c.2012T>G, XM_047420128.1:c.2012T>C, XM_047420128.1:c.2012T>G, NP_001082.2:p.Val671Ala, NP_001082.2:p.Val671Gly, XP_016867435.1:p.Val690Ala, XP_016867435.1:p.Val690Gly, XP_016867434.1:p.Val690Ala, XP_016867434.1:p.Val690Gly, NP_001259001.1:p.Val690Ala, NP_001259001.1:p.Val690Gly, XP_016867436.1:p.Val671Ala, XP_016867436.1:p.Val671Gly, XP_047276084.1:p.Val671Ala, XP_047276084.1:p.Val671Gly

Select item 14858137679.

rs1485813767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:150861204 (GRCh38)
7:150558292 (GRCh37)
Canonical SPDI:: NC_000007.14:150861203:G:A,NC_000007.14:150861203:G:C
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.150861204G>A, NC_000007.14:g.150861204G>C, NC_000007.13:g.150558292G>A, NC_000007.13:g.150558292G>C, NM_001091.4:c.2251G>A, NM_001091.4:c.2251G>C, NM_001091.3:c.2251G>A, NM_001091.3:c.2251G>C, XM_017011946.3:c.2308G>A, XM_017011946.3:c.2308G>C, XM_017011946.2:c.2308G>A, XM_017011946.2:c.2308G>C, XM_017011946.1:c.2308G>A, XM_017011946.1:c.2308G>C, XM_017011945.2:c.2308G>A, XM_017011945.2:c.2308G>C, XM_017011945.1:c.2308G>A, XM_017011945.1:c.2308G>C, NM_001272072.2:c.2308G>A, NM_001272072.2:c.2308G>C, NM_001272072.1:c.2308G>A, NM_001272072.1:c.2308G>C, XM_017011947.2:c.2251G>A, XM_017011947.2:c.2251G>C, XM_017011947.1:c.2251G>A, XM_017011947.1:c.2251G>C, XM_047420128.1:c.2251G>A, XM_047420128.1:c.2251G>C, NP_001082.2:p.Val751Met, NP_001082.2:p.Val751Leu, XP_016867435.1:p.Val770Met, XP_016867435.1:p.Val770Leu, XP_016867434.1:p.Val770Met, XP_016867434.1:p.Val770Leu, NP_001259001.1:p.Val770Met, NP_001259001.1:p.Val770Leu, XP_016867436.1:p.Val751Met, XP_016867436.1:p.Val751Leu, XP_047276084.1:p.Val751Met, XP_047276084.1:p.Val751Leu

Select item 148420907310.

rs1484209073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150861159 (GRCh38)
7:150558247 (GRCh37)
Canonical SPDI:: NC_000007.14:150861158:T:G
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150861159T>G, NC_000007.13:g.150558247T>G, NM_001091.4:c.2206T>G, NM_001091.3:c.2206T>G, XM_017011946.3:c.2263T>G, XM_017011946.2:c.2263T>G, XM_017011946.1:c.2263T>G, XM_017011945.2:c.2263T>G, XM_017011945.1:c.2263T>G, NM_001272072.2:c.2263T>G, NM_001272072.1:c.2263T>G, XM_017011947.2:c.2206T>G, XM_017011947.1:c.2206T>G, XM_047420128.1:c.2206T>G, NP_001082.2:p.Cys736Gly, XP_016867435.1:p.Cys755Gly, XP_016867434.1:p.Cys755Gly, NP_001259001.1:p.Cys755Gly, XP_016867436.1:p.Cys736Gly, XP_047276084.1:p.Cys736Gly

Select item 148200670811.

rs1482006708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150856950 (GRCh38)
7:150554038 (GRCh37)
Canonical SPDI:: NC_000007.14:150856949:G:A
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.150856950G>A, NC_000007.13:g.150554038G>A, NM_001091.4:c.480G>A, NM_001091.3:c.480G>A, XM_017011946.3:c.480G>A, XM_017011946.2:c.480G>A, XM_017011946.1:c.480G>A, XM_017011945.2:c.480G>A, XM_017011945.1:c.480G>A, NM_001272072.2:c.480G>A, NM_001272072.1:c.480G>A, XM_017011947.2:c.480G>A, XM_017011947.1:c.480G>A, XM_047420128.1:c.480G>A

Select item 148099551412.

rs1480995514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150858021 (GRCh38)
7:150555109 (GRCh37)
Canonical SPDI:: NC_000007.14:150858020:C:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150858021C>T, NC_000007.13:g.150555109C>T, NM_001091.4:c.1551C>T, NM_001091.3:c.1551C>T, XM_017011946.3:c.1551C>T, XM_017011946.2:c.1551C>T, XM_017011946.1:c.1551C>T, XM_017011945.2:c.1551C>T, XM_017011945.1:c.1551C>T, NM_001272072.2:c.1551C>T, NM_001272072.1:c.1551C>T, XM_017011947.2:c.1551C>T, XM_017011947.1:c.1551C>T, XM_047420128.1:c.1551C>T

Select item 147704746913.

rs1477047469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150856650 (GRCh38)
7:150553738 (GRCh37)
Canonical SPDI:: NC_000007.14:150856649:T:C
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150856650T>C, NC_000007.13:g.150553738T>C, NM_001091.4:c.180T>C, NM_001091.3:c.180T>C, XM_017011946.3:c.180T>C, XM_017011946.2:c.180T>C, XM_017011946.1:c.180T>C, XM_017011945.2:c.180T>C, XM_017011945.1:c.180T>C, NM_001272072.2:c.180T>C, NM_001272072.1:c.180T>C, XM_017011947.2:c.180T>C, XM_017011947.1:c.180T>C, XM_047420128.1:c.180T>C

Select item 147573749314.

rs1475737493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150857319 (GRCh38)
7:150554407 (GRCh37)
Canonical SPDI:: NC_000007.14:150857318:C:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.150857319C>T, NC_000007.13:g.150554407C>T, NM_001091.4:c.849C>T, NM_001091.3:c.849C>T, XM_017011946.3:c.849C>T, XM_017011946.2:c.849C>T, XM_017011946.1:c.849C>T, XM_017011945.2:c.849C>T, XM_017011945.1:c.849C>T, NM_001272072.2:c.849C>T, NM_001272072.1:c.849C>T, XM_017011947.2:c.849C>T, XM_017011947.1:c.849C>T, XM_047420128.1:c.849C>T

Select item 147569996415.

rs1475699964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150859010 (GRCh38)
7:150556098 (GRCh37)
Canonical SPDI:: NC_000007.14:150859009:C:T
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.150859010C>T, NC_000007.13:g.150556098C>T, NM_001091.4:c.1818C>T, NM_001091.3:c.1818C>T, XM_017011946.3:c.1818C>T, XM_017011946.2:c.1818C>T, XM_017011946.1:c.1818C>T, XM_017011945.2:c.1818C>T, XM_017011945.1:c.1818C>T, NM_001272072.2:c.1818C>T, NM_001272072.1:c.1818C>T, XM_017011947.2:c.1818C>T, XM_017011947.1:c.1818C>T, XM_047420128.1:c.1818C>T

Select item 147564027916.

rs1475640279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:150861166 (GRCh38)
7:150558254 (GRCh37)
Canonical SPDI:: NC_000007.14:150861165:T:A
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150861166T>A, NC_000007.13:g.150558254T>A, NM_001091.4:c.2213T>A, NM_001091.3:c.2213T>A, XM_017011946.3:c.2270T>A, XM_017011946.2:c.2270T>A, XM_017011946.1:c.2270T>A, XM_017011945.2:c.2270T>A, XM_017011945.1:c.2270T>A, NM_001272072.2:c.2270T>A, NM_001272072.1:c.2270T>A, XM_017011947.2:c.2213T>A, XM_017011947.1:c.2213T>A, XM_047420128.1:c.2213T>A, NP_001082.2:p.Met738Lys, XP_016867435.1:p.Met757Lys, XP_016867434.1:p.Met757Lys, NP_001259001.1:p.Met757Lys, XP_016867436.1:p.Met738Lys, XP_047276084.1:p.Met738Lys

Select item 147489938417.

rs1474899384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:150857622 (GRCh38)
7:150554710 (GRCh37)
Canonical SPDI:: NC_000007.14:150857621:G:C
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150857622G>C, NC_000007.13:g.150554710G>C, NM_001091.4:c.1152G>C, NM_001091.3:c.1152G>C, XM_017011946.3:c.1152G>C, XM_017011946.2:c.1152G>C, XM_017011946.1:c.1152G>C, XM_017011945.2:c.1152G>C, XM_017011945.1:c.1152G>C, NM_001272072.2:c.1152G>C, NM_001272072.1:c.1152G>C, XM_017011947.2:c.1152G>C, XM_017011947.1:c.1152G>C, XM_047420128.1:c.1152G>C, NP_001082.2:p.Glu384Asp, XP_016867435.1:p.Glu384Asp, XP_016867434.1:p.Glu384Asp, NP_001259001.1:p.Glu384Asp, XP_016867436.1:p.Glu384Asp, XP_047276084.1:p.Glu384Asp

Select item 147252516318.

rs1472525163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:150859020 (GRCh38)
7:150556108 (GRCh37)
Canonical SPDI:: NC_000007.14:150859019:C:A,NC_000007.14:150859019:C:G
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.150859020C>A, NC_000007.14:g.150859020C>G, NC_000007.13:g.150556108C>A, NC_000007.13:g.150556108C>G, NM_001091.4:c.1828C>A, NM_001091.4:c.1828C>G, NM_001091.3:c.1828C>A, NM_001091.3:c.1828C>G, XM_017011946.3:c.1828C>A, XM_017011946.3:c.1828C>G, XM_017011946.2:c.1828C>A, XM_017011946.2:c.1828C>G, XM_017011946.1:c.1828C>A, XM_017011946.1:c.1828C>G, XM_017011945.2:c.1828C>A, XM_017011945.2:c.1828C>G, XM_017011945.1:c.1828C>A, XM_017011945.1:c.1828C>G, NM_001272072.2:c.1828C>A, NM_001272072.2:c.1828C>G, NM_001272072.1:c.1828C>A, NM_001272072.1:c.1828C>G, XM_017011947.2:c.1828C>A, XM_017011947.2:c.1828C>G, XM_017011947.1:c.1828C>A, XM_017011947.1:c.1828C>G, XM_047420128.1:c.1828C>A, XM_047420128.1:c.1828C>G, NP_001082.2:p.Gln610Lys, NP_001082.2:p.Gln610Glu, XP_016867435.1:p.Gln610Lys, XP_016867435.1:p.Gln610Glu, XP_016867434.1:p.Gln610Lys, XP_016867434.1:p.Gln610Glu, NP_001259001.1:p.Gln610Lys, NP_001259001.1:p.Gln610Glu, XP_016867436.1:p.Gln610Lys, XP_016867436.1:p.Gln610Glu, XP_047276084.1:p.Gln610Lys, XP_047276084.1:p.Gln610Glu

Select item 147031158119.

rs1470311581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150857808 (GRCh38)
7:150554896 (GRCh37)
Canonical SPDI:: NC_000007.14:150857807:G:A
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150857808G>A, NC_000007.13:g.150554896G>A, NM_001091.4:c.1338G>A, NM_001091.3:c.1338G>A, XM_017011946.3:c.1338G>A, XM_017011946.2:c.1338G>A, XM_017011946.1:c.1338G>A, XM_017011945.2:c.1338G>A, XM_017011945.1:c.1338G>A, NM_001272072.2:c.1338G>A, NM_001272072.1:c.1338G>A, XM_017011947.2:c.1338G>A, XM_017011947.1:c.1338G>A, XM_047420128.1:c.1338G>A

Select item 147028145920.

rs1470281459 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:150857039 (GRCh38)
7:150554127 (GRCh37)
Canonical SPDI:: NC_000007.14:150857038:GGGG:GGG,NC_000007.14:150857038:GGGG:GGGGG
Gene:: AOC1 (Varview), LOC105375567 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150857042del, NC_000007.14:g.150857042dup, NC_000007.13:g.150554130del, NC_000007.13:g.150554130dup, NM_001091.4:c.572del, NM_001091.4:c.572dup, NM_001091.3:c.572del, NM_001091.3:c.572dup, XM_017011946.3:c.572del, XM_017011946.3:c.572dup, XM_017011946.2:c.572del, XM_017011946.2:c.572dup, XM_017011946.1:c.572del, XM_017011946.1:c.572dup, XM_017011945.2:c.572del, XM_017011945.2:c.572dup, XM_017011945.1:c.572del, XM_017011945.1:c.572dup, NM_001272072.2:c.572del, NM_001272072.2:c.572dup, NM_001272072.1:c.572del, NM_001272072.1:c.572dup, XM_017011947.2:c.572del, XM_017011947.2:c.572dup, XM_017011947.1:c.572del, XM_017011947.1:c.572dup, XM_047420128.1:c.572del, XM_047420128.1:c.572dup, NP_001082.2:p.Gly191fs, NP_001082.2:p.Val192fs, XP_016867435.1:p.Gly191fs, XP_016867435.1:p.Val192fs, XP_016867434.1:p.Gly191fs, XP_016867434.1:p.Val192fs, NP_001259001.1:p.Gly191fs, NP_001259001.1:p.Val192fs, XP_016867436.1:p.Gly191fs, XP_016867436.1:p.Val192fs, XP_047276084.1:p.Gly191fs, XP_047276084.1:p.Val192fs

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dbSNP

Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 853

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