SNP Links for Protein (Select 4505505) - SNP

Links from Protein

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Select item 14907171691.

rs1490717169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:132436105 (GRCh38)
11:132305999 (GRCh37)
Canonical SPDI:: NC_000011.10:132436104:A:G,NC_000011.10:132436104:A:T
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.132436105A>G, NC_000011.10:g.132436105A>T, NC_000011.9:g.132305999A>G, NC_000011.9:g.132305999A>T, NG_012107.1:g.1101405T>C, NG_012107.1:g.1101405T>A, NM_002545.5:c.918T>C, NM_002545.5:c.918T>A, NM_002545.4:c.918T>C, NM_002545.4:c.918T>A, NM_002545.3:c.918T>C, NM_002545.3:c.918T>A, NM_001012393.5:c.897T>C, NM_001012393.5:c.897T>A, NM_001012393.4:c.897T>C, NM_001012393.4:c.897T>A, NM_001012393.3:c.897T>C, NM_001012393.3:c.897T>A, NM_001012393.2:c.897T>C, NM_001012393.2:c.897T>A, NM_001012393.1:c.897T>C, NM_001012393.1:c.897T>A, NM_001319104.4:c.618T>C, NM_001319104.4:c.618T>A, NM_001319104.3:c.618T>C, NM_001319104.3:c.618T>A, NM_001319104.2:c.618T>C, NM_001319104.2:c.618T>A, NM_001319104.1:c.618T>C, NM_001319104.1:c.618T>A, NM_001319103.2:c.918T>C, NM_001319103.2:c.918T>A, NM_001319103.1:c.918T>C, NM_001319103.1:c.918T>A, NM_001319106.2:c.915T>C, NM_001319106.2:c.915T>A, NM_001319106.1:c.915T>C, NM_001319106.1:c.915T>A, NM_001319105.2:c.795T>C, NM_001319105.2:c.795T>A, NM_001319105.1:c.795T>C, NM_001319105.1:c.795T>A, XM_006718846.4:c.894T>C, XM_006718846.4:c.894T>A, XM_006718846.3:c.894T>C, XM_006718846.3:c.894T>A, XM_006718846.2:c.894T>C, XM_006718846.2:c.894T>A, XM_006718846.1:c.894T>C, XM_006718846.1:c.894T>A, XM_047427032.1:c.795T>C, XM_047427032.1:c.795T>A, NP_002536.1:p.Asn306Lys, NP_001012393.1:p.Asn299Lys, NP_001306033.1:p.Asn206Lys, NP_001306032.1:p.Asn306Lys, NP_001306035.1:p.Asn305Lys, NP_001306034.1:p.Asn265Lys, XP_006718909.1:p.Asn298Lys, XP_047282988.1:p.Asn265Lys

Select item 14901759932.

rs1490175993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:132657213 (GRCh38)
11:132527108 (GRCh37)
Canonical SPDI:: NC_000011.10:132657212:C:A
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132657213C>A, NC_000011.9:g.132527108C>A, NG_012107.1:g.880296G>T, NM_002545.5:c.274G>T, NM_002545.4:c.274G>T, NM_002545.3:c.274G>T, NM_001012393.5:c.253G>T, NM_001012393.4:c.253G>T, NM_001012393.3:c.253G>T, NM_001012393.2:c.253G>T, NM_001012393.1:c.253G>T, NM_001319104.4:c.-27G>T, NM_001319104.3:c.-27G>T, NM_001319104.2:c.-27G>T, NM_001319104.1:c.-27G>T, NM_001319103.2:c.274G>T, NM_001319103.1:c.274G>T, NM_001319106.2:c.274G>T, NM_001319106.1:c.274G>T, NM_001319105.2:c.151G>T, NM_001319105.1:c.151G>T, XM_006718846.4:c.253G>T, XM_006718846.3:c.253G>T, XM_006718846.2:c.253G>T, XM_006718846.1:c.253G>T, XM_047427032.1:c.151G>T, NP_002536.1:p.Val92Phe, NP_001012393.1:p.Val85Phe, NP_001306032.1:p.Val92Phe, NP_001306035.1:p.Val92Phe, NP_001306034.1:p.Val51Phe, XP_006718909.1:p.Val85Phe, XP_047282988.1:p.Val51Phe

Select item 14882964543.

rs1488296454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:132436197 (GRCh38)
11:132306091 (GRCh37)
Canonical SPDI:: NC_000011.10:132436196:C:T
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132436197C>T, NC_000011.9:g.132306091C>T, NG_012107.1:g.1101313G>A, NM_002545.5:c.826G>A, NM_002545.4:c.826G>A, NM_002545.3:c.826G>A, NM_001012393.5:c.805G>A, NM_001012393.4:c.805G>A, NM_001012393.3:c.805G>A, NM_001012393.2:c.805G>A, NM_001012393.1:c.805G>A, NM_001319104.4:c.526G>A, NM_001319104.3:c.526G>A, NM_001319104.2:c.526G>A, NM_001319104.1:c.526G>A, NM_001319103.2:c.826G>A, NM_001319103.1:c.826G>A, NM_001319106.2:c.823G>A, NM_001319106.1:c.823G>A, NM_001319105.2:c.703G>A, NM_001319105.1:c.703G>A, XM_006718846.4:c.802G>A, XM_006718846.3:c.802G>A, XM_006718846.2:c.802G>A, XM_006718846.1:c.802G>A, XM_047427032.1:c.703G>A, NP_002536.1:p.Gly276Ser, NP_001012393.1:p.Gly269Ser, NP_001306033.1:p.Gly176Ser, NP_001306032.1:p.Gly276Ser, NP_001306035.1:p.Gly275Ser, NP_001306034.1:p.Gly235Ser, XP_006718909.1:p.Gly268Ser, XP_047282988.1:p.Gly235Ser

Select item 14880420304.

rs1488042030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:132420227 (GRCh38)
11:132290121 (GRCh37)
Canonical SPDI:: NC_000011.10:132420226:C:A,NC_000011.10:132420226:C:G
Gene:: OPCML (Varview)
Functional Consequence:: missense_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)
HGVS:: NC_000011.10:g.132420227C>A, NC_000011.10:g.132420227C>G, NC_000011.9:g.132290121C>A, NC_000011.9:g.132290121C>G, NG_012107.1:g.1117283G>T, NG_012107.1:g.1117283G>C, NM_002545.5:c.1004G>T, NM_002545.5:c.1004G>C, NM_002545.4:c.1004G>T, NM_002545.4:c.1004G>C, NM_002545.3:c.1004G>T, NM_002545.3:c.1004G>C, NM_001012393.5:c.983G>T, NM_001012393.5:c.983G>C, NM_001012393.4:c.983G>T, NM_001012393.4:c.983G>C, NM_001012393.3:c.983G>T, NM_001012393.3:c.983G>C, NM_001012393.2:c.983G>T, NM_001012393.2:c.983G>C, NM_001012393.1:c.983G>T, NM_001012393.1:c.983G>C, NM_001319104.4:c.704G>T, NM_001319104.4:c.704G>C, NM_001319104.3:c.704G>T, NM_001319104.3:c.704G>C, NM_001319104.2:c.704G>T, NM_001319104.2:c.704G>C, NM_001319104.1:c.704G>T, NM_001319104.1:c.704G>C, NM_001319103.2:c.1031G>T, NM_001319103.2:c.1031G>C, NM_001319103.1:c.1031G>T, NM_001319103.1:c.1031G>C, NM_001319106.2:c.1001G>T, NM_001319106.2:c.1001G>C, NM_001319106.1:c.1001G>T, NM_001319106.1:c.1001G>C, NM_001319105.2:c.881G>T, NM_001319105.2:c.881G>C, NM_001319105.1:c.881G>T, NM_001319105.1:c.881G>C, XM_006718846.4:c.980G>T, XM_006718846.4:c.980G>C, XM_006718846.3:c.980G>T, XM_006718846.3:c.980G>C, XM_006718846.2:c.980G>T, XM_006718846.2:c.980G>C, XM_006718846.1:c.980G>T, XM_006718846.1:c.980G>C, XM_047427032.1:c.881G>T, XM_047427032.1:c.881G>C, NP_002536.1:p.Gly335Val, NP_002536.1:p.Gly335Ala, NP_001012393.1:p.Gly328Val, NP_001012393.1:p.Gly328Ala, NP_001306033.1:p.Gly235Val, NP_001306033.1:p.Gly235Ala, NP_001306032.1:p.Gly344Val, NP_001306032.1:p.Gly344Ala, NP_001306035.1:p.Gly334Val, NP_001306035.1:p.Gly334Ala, NP_001306034.1:p.Gly294Val, NP_001306034.1:p.Gly294Ala, XP_006718909.1:p.Gly327Val, XP_006718909.1:p.Gly327Ala, XP_047282988.1:p.Gly294Val, XP_047282988.1:p.Gly294Ala

Select item 14816569195.

rs1481656919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:132437357 (GRCh38)
11:132307251 (GRCh37)
Canonical SPDI:: NC_000011.10:132437356:C:A,NC_000011.10:132437356:C:T
Gene:: OPCML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,splice_acceptor_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132437357C>A, NC_000011.10:g.132437357C>T, NC_000011.9:g.132307251C>A, NC_000011.9:g.132307251C>T, NG_012107.1:g.1100153G>T, NG_012107.1:g.1100153G>A, NM_002545.5:c.529G>T, NM_002545.5:c.529G>A, NM_002545.4:c.529G>T, NM_002545.4:c.529G>A, NM_002545.3:c.529G>T, NM_002545.3:c.529G>A, NM_001012393.5:c.508G>T, NM_001012393.5:c.508G>A, NM_001012393.4:c.508G>T, NM_001012393.4:c.508G>A, NM_001012393.3:c.508G>T, NM_001012393.3:c.508G>A, NM_001012393.2:c.508G>T, NM_001012393.2:c.508G>A, NM_001012393.1:c.508G>T, NM_001012393.1:c.508G>A, NM_001319104.4:c.229G>T, NM_001319104.4:c.229G>A, NM_001319104.3:c.229G>T, NM_001319104.3:c.229G>A, NM_001319104.2:c.229G>T, NM_001319104.2:c.229G>A, NM_001319104.1:c.229G>T, NM_001319104.1:c.229G>A, NM_001319103.2:c.529G>T, NM_001319103.2:c.529G>A, NM_001319103.1:c.529G>T, NM_001319103.1:c.529G>A, NM_001319105.2:c.406G>T, NM_001319105.2:c.406G>A, NM_001319105.1:c.406G>T, NM_001319105.1:c.406G>A, XM_047427032.1:c.406G>T, XM_047427032.1:c.406G>A, NP_002536.1:p.Gly177Cys, NP_002536.1:p.Gly177Ser, NP_001012393.1:p.Gly170Cys, NP_001012393.1:p.Gly170Ser, NP_001306033.1:p.Gly77Cys, NP_001306033.1:p.Gly77Ser, NP_001306032.1:p.Gly177Cys, NP_001306032.1:p.Gly177Ser, NP_001306034.1:p.Gly136Cys, NP_001306034.1:p.Gly136Ser, XP_047282988.1:p.Gly136Cys, XP_047282988.1:p.Gly136Ser

Select item 14722130496.

rs1472213049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:132657212 (GRCh38)
11:132527107 (GRCh37)
Canonical SPDI:: NC_000011.10:132657211:A:C,NC_000011.10:132657211:A:G
Gene:: OPCML (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.132657212A>C, NC_000011.10:g.132657212A>G, NC_000011.9:g.132527107A>C, NC_000011.9:g.132527107A>G, NG_012107.1:g.880297T>G, NG_012107.1:g.880297T>C, NM_002545.5:c.275T>G, NM_002545.5:c.275T>C, NM_002545.4:c.275T>G, NM_002545.4:c.275T>C, NM_002545.3:c.275T>G, NM_002545.3:c.275T>C, NM_001012393.5:c.254T>G, NM_001012393.5:c.254T>C, NM_001012393.4:c.254T>G, NM_001012393.4:c.254T>C, NM_001012393.3:c.254T>G, NM_001012393.3:c.254T>C, NM_001012393.2:c.254T>G, NM_001012393.2:c.254T>C, NM_001012393.1:c.254T>G, NM_001012393.1:c.254T>C, NM_001319104.4:c.-26T>G, NM_001319104.4:c.-26T>C, NM_001319104.3:c.-26T>G, NM_001319104.3:c.-26T>C, NM_001319104.2:c.-26T>G, NM_001319104.2:c.-26T>C, NM_001319104.1:c.-26T>G, NM_001319104.1:c.-26T>C, NM_001319103.2:c.275T>G, NM_001319103.2:c.275T>C, NM_001319103.1:c.275T>G, NM_001319103.1:c.275T>C, NM_001319106.2:c.275T>G, NM_001319106.2:c.275T>C, NM_001319106.1:c.275T>G, NM_001319106.1:c.275T>C, NM_001319105.2:c.152T>G, NM_001319105.2:c.152T>C, NM_001319105.1:c.152T>G, NM_001319105.1:c.152T>C, XM_006718846.4:c.254T>G, XM_006718846.4:c.254T>C, XM_006718846.3:c.254T>G, XM_006718846.3:c.254T>C, XM_006718846.2:c.254T>G, XM_006718846.2:c.254T>C, XM_006718846.1:c.254T>G, XM_006718846.1:c.254T>C, XM_047427032.1:c.152T>G, XM_047427032.1:c.152T>C, NP_002536.1:p.Val92Gly, NP_002536.1:p.Val92Ala, NP_001012393.1:p.Val85Gly, NP_001012393.1:p.Val85Ala, NP_001306032.1:p.Val92Gly, NP_001306032.1:p.Val92Ala, NP_001306035.1:p.Val92Gly, NP_001306035.1:p.Val92Ala, NP_001306034.1:p.Val51Gly, NP_001306034.1:p.Val51Ala, XP_006718909.1:p.Val85Gly, XP_006718909.1:p.Val85Ala, XP_047282988.1:p.Val51Gly, XP_047282988.1:p.Val51Ala

Select item 14654224987.

rs1465422498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:132420287 (GRCh38)
11:132290181 (GRCh37)
Canonical SPDI:: NC_000011.10:132420286:C:T
Gene:: OPCML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.132420287C>T, NC_000011.9:g.132290181C>T, NG_012107.1:g.1117223G>A, NM_002545.5:c.944G>A, NM_002545.4:c.944G>A, NM_002545.3:c.944G>A, NM_001012393.5:c.923G>A, NM_001012393.4:c.923G>A, NM_001012393.3:c.923G>A, NM_001012393.2:c.923G>A, NM_001012393.1:c.923G>A, NM_001319104.4:c.644G>A, NM_001319104.3:c.644G>A, NM_001319104.2:c.644G>A, NM_001319104.1:c.644G>A, NM_001319103.2:c.971G>A, NM_001319103.1:c.971G>A, NM_001319106.2:c.941G>A, NM_001319106.1:c.941G>A, NM_001319105.2:c.821G>A, NM_001319105.1:c.821G>A, XM_006718846.4:c.920G>A, XM_006718846.3:c.920G>A, XM_006718846.2:c.920G>A, XM_006718846.1:c.920G>A, XM_047427032.1:c.821G>A, NP_002536.1:p.Gly315Glu, NP_001012393.1:p.Gly308Glu, NP_001306033.1:p.Gly215Glu, NP_001306032.1:p.Gly324Glu, NP_001306035.1:p.Gly314Glu, NP_001306034.1:p.Gly274Glu, XP_006718909.1:p.Gly307Glu, XP_047282988.1:p.Gly274Glu

Select item 14631488778.

rs1463148877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:132657232 (GRCh38)
11:132527127 (GRCh37)
Canonical SPDI:: NC_000011.10:132657231:G:A,NC_000011.10:132657231:G:T
Gene:: OPCML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.132657232G>A, NC_000011.10:g.132657232G>T, NC_000011.9:g.132527127G>A, NC_000011.9:g.132527127G>T, NG_012107.1:g.880277C>T, NG_012107.1:g.880277C>A, NM_002545.5:c.255C>T, NM_002545.5:c.255C>A, NM_002545.4:c.255C>T, NM_002545.4:c.255C>A, NM_002545.3:c.255C>T, NM_002545.3:c.255C>A, NM_001012393.5:c.234C>T, NM_001012393.5:c.234C>A, NM_001012393.4:c.234C>T, NM_001012393.4:c.234C>A, NM_001012393.3:c.234C>T, NM_001012393.3:c.234C>A, NM_001012393.2:c.234C>T, NM_001012393.2:c.234C>A, NM_001012393.1:c.234C>T, NM_001012393.1:c.234C>A, NM_001319104.4:c.-46C>T, NM_001319104.4:c.-46C>A, NM_001319104.3:c.-46C>T, NM_001319104.3:c.-46C>A, NM_001319104.2:c.-46C>T, NM_001319104.2:c.-46C>A, NM_001319104.1:c.-46C>T, NM_001319104.1:c.-46C>A, NM_001319103.2:c.255C>T, NM_001319103.2:c.255C>A, NM_001319103.1:c.255C>T, NM_001319103.1:c.255C>A, NM_001319106.2:c.255C>T, NM_001319106.2:c.255C>A, NM_001319106.1:c.255C>T, NM_001319106.1:c.255C>A, NM_001319105.2:c.132C>T, NM_001319105.2:c.132C>A, NM_001319105.1:c.132C>T, NM_001319105.1:c.132C>A, XM_006718846.4:c.234C>T, XM_006718846.4:c.234C>A, XM_006718846.3:c.234C>T, XM_006718846.3:c.234C>A, XM_006718846.2:c.234C>T, XM_006718846.2:c.234C>A, XM_006718846.1:c.234C>T, XM_006718846.1:c.234C>A, XM_047427032.1:c.132C>T, XM_047427032.1:c.132C>A, NP_002536.1:p.Asp85Glu, NP_001012393.1:p.Asp78Glu, NP_001306032.1:p.Asp85Glu, NP_001306035.1:p.Asp85Glu, NP_001306034.1:p.Asp44Glu, XP_006718909.1:p.Asp78Glu, XP_047282988.1:p.Asp44Glu

Select item 14615614529.

rs1461561452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:132437255 (GRCh38)
11:132307149 (GRCh37)
Canonical SPDI:: NC_000011.10:132437254:G:A
Gene:: OPCML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132437255G>A, NC_000011.9:g.132307149G>A, NG_012107.1:g.1100255C>T, NM_002545.5:c.631C>T, NM_002545.4:c.631C>T, NM_002545.3:c.631C>T, NM_001012393.5:c.610C>T, NM_001012393.4:c.610C>T, NM_001012393.3:c.610C>T, NM_001012393.2:c.610C>T, NM_001012393.1:c.610C>T, NM_001319104.4:c.331C>T, NM_001319104.3:c.331C>T, NM_001319104.2:c.331C>T, NM_001319104.1:c.331C>T, NM_001319103.2:c.631C>T, NM_001319103.1:c.631C>T, NM_001319106.2:c.628C>T, NM_001319106.1:c.628C>T, NM_001319105.2:c.508C>T, NM_001319105.1:c.508C>T, XM_006718846.4:c.607C>T, XM_006718846.3:c.607C>T, XM_006718846.2:c.607C>T, XM_006718846.1:c.607C>T, XM_047427032.1:c.508C>T, NP_002536.1:p.Pro211Ser, NP_001012393.1:p.Pro204Ser, NP_001306033.1:p.Pro111Ser, NP_001306032.1:p.Pro211Ser, NP_001306035.1:p.Pro210Ser, NP_001306034.1:p.Pro170Ser, XP_006718909.1:p.Pro203Ser, XP_047282988.1:p.Pro170Ser

Select item 145812488010.

rs1458124880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:132420202 (GRCh38)
11:132290096 (GRCh37)
Canonical SPDI:: NC_000011.10:132420201:G:A
Gene:: OPCML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132420202G>A, NC_000011.9:g.132290096G>A, NG_012107.1:g.1117308C>T, NM_002545.5:c.1029C>T, NM_002545.4:c.1029C>T, NM_002545.3:c.1029C>T, NM_001012393.5:c.1008C>T, NM_001012393.4:c.1008C>T, NM_001012393.3:c.1008C>T, NM_001012393.2:c.1008C>T, NM_001012393.1:c.1008C>T, NM_001319104.4:c.729C>T, NM_001319104.3:c.729C>T, NM_001319104.2:c.729C>T, NM_001319104.1:c.729C>T, NM_001319103.2:c.1056C>T, NM_001319103.1:c.1056C>T, NM_001319106.2:c.1026C>T, NM_001319106.1:c.1026C>T, NM_001319105.2:c.906C>T, NM_001319105.1:c.906C>T, XM_006718846.4:c.1005C>T, XM_006718846.3:c.1005C>T, XM_006718846.2:c.1005C>T, XM_006718846.1:c.1005C>T, XM_047427032.1:c.906C>T

Select item 145706456011.

rs1457064560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:132437279 (GRCh38)
11:132307173 (GRCh37)
Canonical SPDI:: NC_000011.10:132437278:T:G
Gene:: OPCML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.132437279T>G, NC_000011.9:g.132307173T>G, NG_012107.1:g.1100231A>C, NM_002545.5:c.607A>C, NM_002545.4:c.607A>C, NM_002545.3:c.607A>C, NM_001012393.5:c.586A>C, NM_001012393.4:c.586A>C, NM_001012393.3:c.586A>C, NM_001012393.2:c.586A>C, NM_001012393.1:c.586A>C, NM_001319104.4:c.307A>C, NM_001319104.3:c.307A>C, NM_001319104.2:c.307A>C, NM_001319104.1:c.307A>C, NM_001319103.2:c.607A>C, NM_001319103.1:c.607A>C, NM_001319106.2:c.604A>C, NM_001319106.1:c.604A>C, NM_001319105.2:c.484A>C, NM_001319105.1:c.484A>C, XM_006718846.4:c.583A>C, XM_006718846.3:c.583A>C, XM_006718846.2:c.583A>C, XM_006718846.1:c.583A>C, XM_047427032.1:c.484A>C, NP_002536.1:p.Ser203Arg, NP_001012393.1:p.Ser196Arg, NP_001306033.1:p.Ser103Arg, NP_001306032.1:p.Ser203Arg, NP_001306035.1:p.Ser202Arg, NP_001306034.1:p.Ser162Arg, XP_006718909.1:p.Ser195Arg, XP_047282988.1:p.Ser162Arg

Select item 145480281412.

rs1454802814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:132437227 (GRCh38)
11:132307121 (GRCh37)
Canonical SPDI:: NC_000011.10:132437226:A:G
Gene:: OPCML (Varview)
Functional Consequence:: missense_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_000011.10:g.132437227A>G, NC_000011.9:g.132307121A>G, NG_012107.1:g.1100283T>C, NM_002545.5:c.659T>C, NM_002545.4:c.659T>C, NM_002545.3:c.659T>C, NM_001012393.5:c.638T>C, NM_001012393.4:c.638T>C, NM_001012393.3:c.638T>C, NM_001012393.2:c.638T>C, NM_001012393.1:c.638T>C, NM_001319104.4:c.359T>C, NM_001319104.3:c.359T>C, NM_001319104.2:c.359T>C, NM_001319104.1:c.359T>C, NM_001319103.2:c.659T>C, NM_001319103.1:c.659T>C, NM_001319106.2:c.656T>C, NM_001319106.1:c.656T>C, NM_001319105.2:c.536T>C, NM_001319105.1:c.536T>C, XM_006718846.4:c.635T>C, XM_006718846.3:c.635T>C, XM_006718846.2:c.635T>C, XM_006718846.1:c.635T>C, XM_047427032.1:c.536T>C, NP_002536.1:p.Val220Ala, NP_001012393.1:p.Val213Ala, NP_001306033.1:p.Val120Ala, NP_001306032.1:p.Val220Ala, NP_001306035.1:p.Val219Ala, NP_001306034.1:p.Val179Ala, XP_006718909.1:p.Val212Ala, XP_047282988.1:p.Val179Ala

Select item 145472238513.

rs1454722385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:132942932 (GRCh38)
11:132812827 (GRCh37)
Canonical SPDI:: NC_000011.10:132942931:G:A
Gene:: OPCML (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132942932G>A, NC_000011.9:g.132812827G>A, NG_012107.1:g.594577C>T, NM_002545.5:c.161C>T, NM_002545.4:c.161C>T, NM_002545.3:c.161C>T, NM_001012393.5:c.140C>T, NM_001012393.4:c.140C>T, NM_001012393.3:c.140C>T, NM_001012393.2:c.140C>T, NM_001012393.1:c.140C>T, NM_001319103.2:c.161C>T, NM_001319103.1:c.161C>T, NM_001319106.2:c.161C>T, NM_001319106.1:c.161C>T, NM_001319105.2:c.38C>T, NM_001319105.1:c.38C>T, XM_006718846.4:c.140C>T, XM_006718846.3:c.140C>T, XM_006718846.2:c.140C>T, XM_006718846.1:c.140C>T, XM_047427032.1:c.38C>T, NP_002536.1:p.Thr54Ile, NP_001012393.1:p.Thr47Ile, NP_001306032.1:p.Thr54Ile, NP_001306035.1:p.Thr54Ile, NP_001306034.1:p.Thr13Ile, XP_006718909.1:p.Thr47Ile, XP_047282988.1:p.Thr13Ile

Select item 145241743314.

rs1452417433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:132437328 (GRCh38)
11:132307222 (GRCh37)
Canonical SPDI:: NC_000011.10:132437327:G:A
Gene:: OPCML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.132437328G>A, NC_000011.9:g.132307222G>A, NG_012107.1:g.1100182C>T, NM_002545.5:c.558C>T, NM_002545.4:c.558C>T, NM_002545.3:c.558C>T, NM_001012393.5:c.537C>T, NM_001012393.4:c.537C>T, NM_001012393.3:c.537C>T, NM_001012393.2:c.537C>T, NM_001012393.1:c.537C>T, NM_001319104.4:c.258C>T, NM_001319104.3:c.258C>T, NM_001319104.2:c.258C>T, NM_001319104.1:c.258C>T, NM_001319103.2:c.558C>T, NM_001319103.1:c.558C>T, NM_001319106.2:c.555C>T, NM_001319106.1:c.555C>T, NM_001319105.2:c.435C>T, NM_001319105.1:c.435C>T, XM_006718846.4:c.534C>T, XM_006718846.3:c.534C>T, XM_006718846.2:c.534C>T, XM_006718846.1:c.534C>T, XM_047427032.1:c.435C>T

Select item 144800116715.

rs1448001167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:132529139 (GRCh38)
11:132399033 (GRCh37)
Canonical SPDI:: NC_000011.10:132529138:C:T
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132529139C>T, NC_000011.9:g.132399033C>T, NG_012107.1:g.1008371G>A, NM_002545.5:c.448G>A, NM_002545.4:c.448G>A, NM_002545.3:c.448G>A, NM_001012393.5:c.427G>A, NM_001012393.4:c.427G>A, NM_001012393.3:c.427G>A, NM_001012393.2:c.427G>A, NM_001012393.1:c.427G>A, NM_001319104.4:c.148G>A, NM_001319104.3:c.148G>A, NM_001319104.2:c.148G>A, NM_001319104.1:c.148G>A, NM_001319103.2:c.448G>A, NM_001319103.1:c.448G>A, NM_001319106.2:c.448G>A, NM_001319106.1:c.448G>A, NM_001319105.2:c.325G>A, NM_001319105.1:c.325G>A, XM_006718846.4:c.427G>A, XM_006718846.3:c.427G>A, XM_006718846.2:c.427G>A, XM_006718846.1:c.427G>A, XM_047427032.1:c.325G>A, NP_002536.1:p.Gly150Arg, NP_001012393.1:p.Gly143Arg, NP_001306033.1:p.Gly50Arg, NP_001306032.1:p.Gly150Arg, NP_001306035.1:p.Gly150Arg, NP_001306034.1:p.Gly109Arg, XP_006718909.1:p.Gly143Arg, XP_047282988.1:p.Gly109Arg

Select item 144672511516.

rs1446725115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:132529130 (GRCh38)
11:132399024 (GRCh37)
Canonical SPDI:: NC_000011.10:132529129:C:A,NC_000011.10:132529129:C:T
Gene:: OPCML (Varview)
Functional Consequence:: 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_000011.10:g.132529130C>A, NC_000011.10:g.132529130C>T, NC_000011.9:g.132399024C>A, NC_000011.9:g.132399024C>T, NG_012107.1:g.1008380G>T, NG_012107.1:g.1008380G>A, NM_002545.5:c.457G>T, NM_002545.5:c.457G>A, NM_002545.4:c.457G>T, NM_002545.4:c.457G>A, NM_002545.3:c.457G>T, NM_002545.3:c.457G>A, NM_001012393.5:c.436G>T, NM_001012393.5:c.436G>A, NM_001012393.4:c.436G>T, NM_001012393.4:c.436G>A, NM_001012393.3:c.436G>T, NM_001012393.3:c.436G>A, NM_001012393.2:c.436G>T, NM_001012393.2:c.436G>A, NM_001012393.1:c.436G>T, NM_001012393.1:c.436G>A, NM_001319104.4:c.157G>T, NM_001319104.4:c.157G>A, NM_001319104.3:c.157G>T, NM_001319104.3:c.157G>A, NM_001319104.2:c.157G>T, NM_001319104.2:c.157G>A, NM_001319104.1:c.157G>T, NM_001319104.1:c.157G>A, NM_001319103.2:c.457G>T, NM_001319103.2:c.457G>A, NM_001319103.1:c.457G>T, NM_001319103.1:c.457G>A, NM_001319106.2:c.457G>T, NM_001319106.2:c.457G>A, NM_001319106.1:c.457G>T, NM_001319106.1:c.457G>A, NM_001319105.2:c.334G>T, NM_001319105.2:c.334G>A, NM_001319105.1:c.334G>T, NM_001319105.1:c.334G>A, XM_006718846.4:c.436G>T, XM_006718846.4:c.436G>A, XM_006718846.3:c.436G>T, XM_006718846.3:c.436G>A, XM_006718846.2:c.436G>T, XM_006718846.2:c.436G>A, XM_006718846.1:c.436G>T, XM_006718846.1:c.436G>A, XM_047427032.1:c.334G>T, XM_047427032.1:c.334G>A, NP_002536.1:p.Val153Leu, NP_002536.1:p.Val153Met, NP_001012393.1:p.Val146Leu, NP_001012393.1:p.Val146Met, NP_001306033.1:p.Val53Leu, NP_001306033.1:p.Val53Met, NP_001306032.1:p.Val153Leu, NP_001306032.1:p.Val153Met, NP_001306035.1:p.Val153Leu, NP_001306035.1:p.Val153Met, NP_001306034.1:p.Val112Leu, NP_001306034.1:p.Val112Met, XP_006718909.1:p.Val146Leu, XP_006718909.1:p.Val146Met, XP_047282988.1:p.Val112Leu, XP_047282988.1:p.Val112Met

Select item 144312626517.

rs1443126265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:132437283 (GRCh38)
11:132307177 (GRCh37)
Canonical SPDI:: NC_000011.10:132437282:T:C
Gene:: OPCML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132437283T>C, NC_000011.9:g.132307177T>C, NG_012107.1:g.1100227A>G, NM_002545.5:c.603A>G, NM_002545.4:c.603A>G, NM_002545.3:c.603A>G, NM_001012393.5:c.582A>G, NM_001012393.4:c.582A>G, NM_001012393.3:c.582A>G, NM_001012393.2:c.582A>G, NM_001012393.1:c.582A>G, NM_001319104.4:c.303A>G, NM_001319104.3:c.303A>G, NM_001319104.2:c.303A>G, NM_001319104.1:c.303A>G, NM_001319103.2:c.603A>G, NM_001319103.1:c.603A>G, NM_001319106.2:c.600A>G, NM_001319106.1:c.600A>G, NM_001319105.2:c.480A>G, NM_001319105.1:c.480A>G, XM_006718846.4:c.579A>G, XM_006718846.3:c.579A>G, XM_006718846.2:c.579A>G, XM_006718846.1:c.579A>G, XM_047427032.1:c.480A>G

Select item 144224459018.

rs1442244590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:132436218 (GRCh38)
11:132306112 (GRCh37)
Canonical SPDI:: NC_000011.10:132436217:C:A,NC_000011.10:132436217:C:G
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132436218C>A, NC_000011.10:g.132436218C>G, NC_000011.9:g.132306112C>A, NC_000011.9:g.132306112C>G, NG_012107.1:g.1101292G>T, NG_012107.1:g.1101292G>C, NM_002545.5:c.805G>T, NM_002545.5:c.805G>C, NM_002545.4:c.805G>T, NM_002545.4:c.805G>C, NM_002545.3:c.805G>T, NM_002545.3:c.805G>C, NM_001012393.5:c.784G>T, NM_001012393.5:c.784G>C, NM_001012393.4:c.784G>T, NM_001012393.4:c.784G>C, NM_001012393.3:c.784G>T, NM_001012393.3:c.784G>C, NM_001012393.2:c.784G>T, NM_001012393.2:c.784G>C, NM_001012393.1:c.784G>T, NM_001012393.1:c.784G>C, NM_001319104.4:c.505G>T, NM_001319104.4:c.505G>C, NM_001319104.3:c.505G>T, NM_001319104.3:c.505G>C, NM_001319104.2:c.505G>T, NM_001319104.2:c.505G>C, NM_001319104.1:c.505G>T, NM_001319104.1:c.505G>C, NM_001319103.2:c.805G>T, NM_001319103.2:c.805G>C, NM_001319103.1:c.805G>T, NM_001319103.1:c.805G>C, NM_001319106.2:c.802G>T, NM_001319106.2:c.802G>C, NM_001319106.1:c.802G>T, NM_001319106.1:c.802G>C, NM_001319105.2:c.682G>T, NM_001319105.2:c.682G>C, NM_001319105.1:c.682G>T, NM_001319105.1:c.682G>C, XM_006718846.4:c.781G>T, XM_006718846.4:c.781G>C, XM_006718846.3:c.781G>T, XM_006718846.3:c.781G>C, XM_006718846.2:c.781G>T, XM_006718846.2:c.781G>C, XM_006718846.1:c.781G>T, XM_006718846.1:c.781G>C, XM_047427032.1:c.682G>T, XM_047427032.1:c.682G>C, NP_002536.1:p.Gly269Ter, NP_002536.1:p.Gly269Arg, NP_001012393.1:p.Gly262Ter, NP_001012393.1:p.Gly262Arg, NP_001306033.1:p.Gly169Ter, NP_001306033.1:p.Gly169Arg, NP_001306032.1:p.Gly269Ter, NP_001306032.1:p.Gly269Arg, NP_001306035.1:p.Gly268Ter, NP_001306035.1:p.Gly268Arg, NP_001306034.1:p.Gly228Ter, NP_001306034.1:p.Gly228Arg, XP_006718909.1:p.Gly261Ter, XP_006718909.1:p.Gly261Arg, XP_047282988.1:p.Gly228Ter, XP_047282988.1:p.Gly228Arg

Select item 143533474919.

rs1435334749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:132420222 (GRCh38)
11:132290116 (GRCh37)
Canonical SPDI:: NC_000011.10:132420221:G:A
Gene:: OPCML (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)
HGVS:: NC_000011.10:g.132420222G>A, NC_000011.9:g.132290116G>A, NG_012107.1:g.1117288C>T, NM_002545.5:c.1009C>T, NM_002545.4:c.1009C>T, NM_002545.3:c.1009C>T, NM_001012393.5:c.988C>T, NM_001012393.4:c.988C>T, NM_001012393.3:c.988C>T, NM_001012393.2:c.988C>T, NM_001012393.1:c.988C>T, NM_001319104.4:c.709C>T, NM_001319104.3:c.709C>T, NM_001319104.2:c.709C>T, NM_001319104.1:c.709C>T, NM_001319103.2:c.1036C>T, NM_001319103.1:c.1036C>T, NM_001319106.2:c.1006C>T, NM_001319106.1:c.1006C>T, NM_001319105.2:c.886C>T, NM_001319105.1:c.886C>T, XM_006718846.4:c.985C>T, XM_006718846.3:c.985C>T, XM_006718846.2:c.985C>T, XM_006718846.1:c.985C>T, XM_047427032.1:c.886C>T, NP_002536.1:p.Leu337Phe, NP_001012393.1:p.Leu330Phe, NP_001306033.1:p.Leu237Phe, NP_001306032.1:p.Leu346Phe, NP_001306035.1:p.Leu336Phe, NP_001306034.1:p.Leu296Phe, XP_006718909.1:p.Leu329Phe, XP_047282988.1:p.Leu296Phe

Select item 142710291020.

rs1427102910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:132657125 (GRCh38)
11:132527020 (GRCh37)
Canonical SPDI:: NC_000011.10:132657124:T:C
Gene:: OPCML (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.132657125T>C, NC_000011.9:g.132527020T>C, NG_012107.1:g.880384A>G, NM_002545.5:c.362A>G, NM_002545.4:c.362A>G, NM_002545.3:c.362A>G, NM_001012393.5:c.341A>G, NM_001012393.4:c.341A>G, NM_001012393.3:c.341A>G, NM_001012393.2:c.341A>G, NM_001012393.1:c.341A>G, NM_001319104.4:c.62A>G, NM_001319104.3:c.62A>G, NM_001319104.2:c.62A>G, NM_001319104.1:c.62A>G, NM_001319103.2:c.362A>G, NM_001319103.1:c.362A>G, NM_001319106.2:c.362A>G, NM_001319106.1:c.362A>G, NM_001319105.2:c.239A>G, NM_001319105.1:c.239A>G, XM_006718846.4:c.341A>G, XM_006718846.3:c.341A>G, XM_006718846.2:c.341A>G, XM_006718846.1:c.341A>G, XM_047427032.1:c.239A>G, NP_002536.1:p.Asn121Ser, NP_001012393.1:p.Asn114Ser, NP_001306033.1:p.Asn21Ser, NP_001306032.1:p.Asn121Ser, NP_001306035.1:p.Asn121Ser, NP_001306034.1:p.Asn80Ser, XP_006718909.1:p.Asn114Ser, XP_047282988.1:p.Asn80Ser

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