SNP Links for Protein (Select 56788381) - SNP

Links from Protein

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Select item 14892893371.

rs1489289337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:29659351 (GRCh38)
6:29627128 (GRCh37)
Canonical SPDI:: NC_000006.12:29659350:A:C,NC_000006.12:29659350:A:T
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29659351A>C, NC_000006.12:g.29659351A>T, NC_000006.11:g.29627128A>C, NC_000006.11:g.29627128A>T, NG_031873.1:g.7371A>C, NG_031873.1:g.7371A>T, NM_002433.5:c.121A>C, NM_002433.5:c.121A>T, NM_002433.4:c.121A>C, NM_002433.4:c.121A>T, NM_206809.4:c.121A>C, NM_206809.4:c.121A>T, NM_206809.3:c.121A>C, NM_206809.3:c.121A>T, NM_206812.4:c.121A>C, NM_206812.4:c.121A>T, NM_206812.3:c.121A>C, NM_206812.3:c.121A>T, NM_206811.4:c.121A>C, NM_206811.4:c.121A>T, NM_206811.3:c.121A>C, NM_206811.3:c.121A>T, NM_206810.4:c.121A>C, NM_206810.4:c.121A>T, NM_206810.3:c.121A>C, NM_206810.3:c.121A>T, NM_001008228.3:c.121A>C, NM_001008228.3:c.121A>T, NM_001008228.2:c.121A>C, NM_001008228.2:c.121A>T, NM_001008229.3:c.121A>C, NM_001008229.3:c.121A>T, NM_001008229.2:c.121A>C, NM_001008229.2:c.121A>T, NM_001363610.2:c.121A>C, NM_001363610.2:c.121A>T, NM_001363610.1:c.121A>C, NM_001363610.1:c.121A>T, NT_113891.3:g.1145821A>C, NT_113891.3:g.1145821A>T, NT_113891.2:g.1145927A>C, NT_113891.2:g.1145927A>T, NT_167248.2:g.924850A>C, NT_167248.2:g.924850A>T, NT_167248.1:g.930446A>C, NT_167248.1:g.930446A>T, NT_167245.2:g.924895A>C, NT_167245.2:g.924895A>T, NT_167245.1:g.930480A>C, NT_167245.1:g.930480A>T, NT_167246.2:g.924467A>C, NT_167246.2:g.924467A>T, NT_167246.1:g.930087A>C, NT_167246.1:g.930087A>T, NT_167249.2:g.968381A>C, NT_167249.2:g.968381A>T, NT_167249.1:g.967679A>C, NT_167249.1:g.967679A>T, NT_167247.2:g.924731A>C, NT_167247.2:g.924731A>T, NT_167247.1:g.930316A>C, NT_167247.1:g.930316A>T, NT_167244.2:g.925058A>C, NT_167244.2:g.925058A>T, NT_167244.1:g.930652A>C, NT_167244.1:g.930652A>T, NM_206813.3:c.121A>C, NM_206813.3:c.121A>T, NM_206813.4:c.121A>C, NM_206813.4:c.121A>T, NM_206813.2:c.121A>C, NM_206813.2:c.121A>T, NM_206813.1:c.40A>C, NM_206813.1:c.40A>T, NP_002424.3:p.Ile41Leu, NP_002424.3:p.Ile41Phe, NP_996532.2:p.Ile41Leu, NP_996532.2:p.Ile41Phe, NP_996535.2:p.Ile41Leu, NP_996535.2:p.Ile41Phe, NP_996534.2:p.Ile41Leu, NP_996534.2:p.Ile41Phe, NP_996533.2:p.Ile41Leu, NP_996533.2:p.Ile41Phe, NP_001008229.1:p.Ile41Leu, NP_001008229.1:p.Ile41Phe, NP_001008230.1:p.Ile41Leu, NP_001008230.1:p.Ile41Phe, NP_001350539.1:p.Ile41Leu, NP_001350539.1:p.Ile41Phe

Select item 14863333262.

rs1486333326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29670711 (GRCh38)
6:29638488 (GRCh37)
Canonical SPDI:: NC_000006.12:29670710:T:C
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29670711T>C, NC_000006.11:g.29638488T>C, NG_031873.1:g.18731T>C, NM_206814.6:c.372T>C, NM_206814.5:c.372T>C, NM_002433.5:c.720T>C, NM_002433.4:c.720T>C, NM_206809.4:c.720T>C, NM_206809.3:c.720T>C, NM_206812.4:c.603T>C, NM_206812.3:c.603T>C, NM_206811.4:c.651T>C, NM_206811.3:c.651T>C, NM_206810.4:c.603T>C, NM_206810.3:c.603T>C, NM_001008228.3:c.651T>C, NM_001008228.2:c.651T>C, NM_001363610.2:c.720T>C, NM_001363610.1:c.720T>C, NM_001170418.2:c.303T>C, NM_001170418.1:c.303T>C, NG_013045.1:g.11444A>G, NT_113891.3:g.1157176T>C, NT_113891.2:g.1157282T>C, NT_167248.2:g.936208T>C, NT_167248.1:g.941804T>C, NT_167245.2:g.936253T>C, NT_167245.1:g.941838T>C, NT_167246.2:g.935825T>C, NT_167246.1:g.941445T>C, NT_167249.2:g.979743T>C, NT_167249.1:g.979041T>C, NT_167247.2:g.936089T>C, NT_167247.1:g.941674T>C, NT_167244.2:g.936415T>C, NT_167244.1:g.942009T>C, NM_206813.4:c.*342T>C, NM_206813.3:c.*342T>C, NM_206813.2:c.*342T>C, NM_001170417.1:c.372T>C, NM_206813.1:c.*342T>C

Select item 14826480743.

rs1482648074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:29666194 (GRCh38)
6:29633971 (GRCh37)
Canonical SPDI:: NC_000006.12:29666193:C:A,NC_000006.12:29666193:C:T
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.29666194C>A, NC_000006.12:g.29666194C>T, NC_000006.11:g.29633971C>A, NC_000006.11:g.29633971C>T, NG_031873.1:g.14214C>A, NG_031873.1:g.14214C>T, NM_206814.6:c.131C>A, NM_206814.6:c.131C>T, NM_206814.5:c.131C>A, NM_206814.5:c.131C>T, NM_002433.5:c.479C>A, NM_002433.5:c.479C>T, NM_002433.4:c.479C>A, NM_002433.4:c.479C>T, NM_206809.4:c.479C>A, NM_206809.4:c.479C>T, NM_206809.3:c.479C>A, NM_206809.3:c.479C>T, NM_206812.4:c.479C>A, NM_206812.4:c.479C>T, NM_206812.3:c.479C>A, NM_206812.3:c.479C>T, NM_206811.4:c.479C>A, NM_206811.4:c.479C>T, NM_206811.3:c.479C>A, NM_206811.3:c.479C>T, NM_206810.4:c.479C>A, NM_206810.4:c.479C>T, NM_206810.3:c.479C>A, NM_206810.3:c.479C>T, NM_001008228.3:c.479C>A, NM_001008228.3:c.479C>T, NM_001008228.2:c.479C>A, NM_001008228.2:c.479C>T, NM_001008229.3:c.479C>A, NM_001008229.3:c.479C>T, NM_001008229.2:c.479C>A, NM_001008229.2:c.479C>T, NM_001363610.2:c.479C>A, NM_001363610.2:c.479C>T, NM_001363610.1:c.479C>A, NM_001363610.1:c.479C>T, NM_001170418.2:c.131C>A, NM_001170418.2:c.131C>T, NM_001170418.1:c.131C>A, NM_001170418.1:c.131C>T, NT_113891.3:g.1152659C>A, NT_113891.3:g.1152659C>T, NT_113891.2:g.1152765C>A, NT_113891.2:g.1152765C>T, NT_167248.2:g.931690C>A, NT_167248.2:g.931690C>T, NT_167248.1:g.937286C>A, NT_167248.1:g.937286C>T, NT_167245.2:g.931735C>A, NT_167245.2:g.931735C>T, NT_167245.1:g.937320C>A, NT_167245.1:g.937320C>T, NT_167246.2:g.931307C>A, NT_167246.2:g.931307C>T, NT_167246.1:g.936927C>A, NT_167246.1:g.936927C>T, NT_167249.2:g.975225C>A, NT_167249.2:g.975225C>T, NT_167249.1:g.974523C>A, NT_167249.1:g.974523C>T, NT_167247.2:g.931572C>A, NT_167247.2:g.931572C>T, NT_167247.1:g.937157C>A, NT_167247.1:g.937157C>T, NT_167244.2:g.931898C>A, NT_167244.2:g.931898C>T, NT_167244.1:g.937492C>A, NT_167244.1:g.937492C>T, NM_206813.3:c.*101C>A, NM_206813.3:c.*101C>T, NM_206813.4:c.*101C>A, NM_206813.4:c.*101C>T, NM_001170417.1:c.131C>A, NM_001170417.1:c.131C>T, NM_206813.2:c.*101C>A, NM_206813.2:c.*101C>T, NM_206813.1:c.*101C>A, NM_206813.1:c.*101C>T, NP_996537.3:p.Ala44Glu, NP_996537.3:p.Ala44Val, NP_002424.3:p.Ala160Glu, NP_002424.3:p.Ala160Val, NP_996532.2:p.Ala160Glu, NP_996532.2:p.Ala160Val, NP_996535.2:p.Ala160Glu, NP_996535.2:p.Ala160Val, NP_996534.2:p.Ala160Glu, NP_996534.2:p.Ala160Val, NP_996533.2:p.Ala160Glu, NP_996533.2:p.Ala160Val, NP_001008229.1:p.Ala160Glu, NP_001008229.1:p.Ala160Val, NP_001008230.1:p.Ala160Glu, NP_001008230.1:p.Ala160Val, NP_001350539.1:p.Ala160Glu, NP_001350539.1:p.Ala160Val, NP_001163889.1:p.Ala44Glu, NP_001163889.1:p.Ala44Val

Select item 14823743624.

rs1482374362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29670287 (GRCh38)
6:29638064 (GRCh37)
Canonical SPDI:: NC_000006.12:29670286:A:G
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29670287A>G, NC_000006.11:g.29638064A>G, NG_031873.1:g.18307A>G, NM_206814.6:c.251A>G, NM_206814.5:c.251A>G, NM_002433.5:c.599A>G, NM_002433.4:c.599A>G, NM_206809.4:c.599A>G, NM_206809.3:c.599A>G, NM_001363610.2:c.599A>G, NM_001363610.1:c.599A>G, NT_113891.3:g.1156752A>G, NT_113891.2:g.1156858A>G, NT_167248.2:g.935784A>G, NT_167248.1:g.941380A>G, NT_167245.2:g.935829A>G, NT_167245.1:g.941414A>G, NT_167246.2:g.935401A>G, NT_167246.1:g.941021A>G, NT_167249.2:g.979319A>G, NT_167249.1:g.978617A>G, NT_167247.2:g.935665A>G, NT_167247.1:g.941250A>G, NT_167244.2:g.935991A>G, NT_167244.1:g.941585A>G, NM_206813.3:c.*221A>G, NM_206813.4:c.*221A>G, NM_206813.2:c.*221A>G, NM_001170417.1:c.251A>G, NM_206813.1:c.*221A>G, NP_996537.3:p.His84Arg, NP_002424.3:p.His200Arg, NP_996532.2:p.His200Arg, NP_001350539.1:p.His200Arg

Select item 14794165895.

rs1479416589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29659442 (GRCh38)
6:29627219 (GRCh37)
Canonical SPDI:: NC_000006.12:29659441:C:T
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29659442C>T, NC_000006.11:g.29627219C>T, NG_031873.1:g.7462C>T, NM_002433.5:c.212C>T, NM_002433.4:c.212C>T, NM_206809.4:c.212C>T, NM_206809.3:c.212C>T, NM_206812.4:c.212C>T, NM_206812.3:c.212C>T, NM_206811.4:c.212C>T, NM_206811.3:c.212C>T, NM_206810.4:c.212C>T, NM_206810.3:c.212C>T, NM_001008228.3:c.212C>T, NM_001008228.2:c.212C>T, NM_001008229.3:c.212C>T, NM_001008229.2:c.212C>T, NM_001363610.2:c.212C>T, NM_001363610.1:c.212C>T, NT_113891.3:g.1145912C>T, NT_113891.2:g.1146018C>T, NT_167248.2:g.924941C>T, NT_167248.1:g.930537C>T, NT_167245.2:g.924986C>T, NT_167245.1:g.930571C>T, NT_167246.2:g.924558C>T, NT_167246.1:g.930178C>T, NT_167249.2:g.968472C>T, NT_167249.1:g.967770C>T, NT_167247.2:g.924822C>T, NT_167247.1:g.930407C>T, NT_167244.2:g.925149C>T, NT_167244.1:g.930743C>T, NM_206813.3:c.212C>T, NM_206813.4:c.212C>T, NM_206813.2:c.212C>T, NM_206813.1:c.131C>T, NP_002424.3:p.Pro71Leu, NP_996532.2:p.Pro71Leu, NP_996535.2:p.Pro71Leu, NP_996534.2:p.Pro71Leu, NP_996533.2:p.Pro71Leu, NP_001008229.1:p.Pro71Leu, NP_001008230.1:p.Pro71Leu, NP_001350539.1:p.Pro71Leu

Select item 14502400796.

rs1450240079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29659339 (GRCh38)
6:29627116 (GRCh37)
Canonical SPDI:: NC_000006.12:29659338:C:T
Gene:: MOG (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29659339C>T, NC_000006.11:g.29627116C>T, NG_031873.1:g.7359C>T, NM_002433.5:c.109C>T, NM_002433.4:c.109C>T, NM_206809.4:c.109C>T, NM_206809.3:c.109C>T, NM_206812.4:c.109C>T, NM_206812.3:c.109C>T, NM_206811.4:c.109C>T, NM_206811.3:c.109C>T, NM_206810.4:c.109C>T, NM_206810.3:c.109C>T, NM_001008228.3:c.109C>T, NM_001008228.2:c.109C>T, NM_001008229.3:c.109C>T, NM_001008229.2:c.109C>T, NM_001363610.2:c.109C>T, NM_001363610.1:c.109C>T, NT_113891.3:g.1145809C>T, NT_113891.2:g.1145915C>T, NT_167248.2:g.924838C>T, NT_167248.1:g.930434C>T, NT_167245.2:g.924883C>T, NT_167245.1:g.930468C>T, NT_167246.2:g.924455C>T, NT_167246.1:g.930075C>T, NT_167249.2:g.968369C>T, NT_167249.1:g.967667C>T, NT_167247.2:g.924719C>T, NT_167247.1:g.930304C>T, NT_167244.2:g.925046C>T, NT_167244.1:g.930640C>T, NM_206813.3:c.109C>T, NM_206813.4:c.109C>T, NM_206813.2:c.109C>T, NM_206813.1:c.28C>T, NP_002424.3:p.Pro37Ser, NP_996532.2:p.Pro37Ser, NP_996535.2:p.Pro37Ser, NP_996534.2:p.Pro37Ser, NP_996533.2:p.Pro37Ser, NP_001008229.1:p.Pro37Ser, NP_001008230.1:p.Pro37Ser, NP_001350539.1:p.Pro37Ser

Select item 14455911707.

rs1445591170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29659626 (GRCh38)
6:29627403 (GRCh37)
Canonical SPDI:: NC_000006.12:29659625:T:C
Gene:: MOG (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29659626T>C, NC_000006.11:g.29627403T>C, NG_031873.1:g.7646T>C, NM_002433.5:c.396T>C, NM_002433.4:c.396T>C, NM_206809.4:c.396T>C, NM_206809.3:c.396T>C, NM_206812.4:c.396T>C, NM_206812.3:c.396T>C, NM_206811.4:c.396T>C, NM_206811.3:c.396T>C, NM_206810.4:c.396T>C, NM_206810.3:c.396T>C, NM_001008228.3:c.396T>C, NM_001008228.2:c.396T>C, NM_001008229.3:c.396T>C, NM_001008229.2:c.396T>C, NM_001363610.2:c.396T>C, NM_001363610.1:c.396T>C, NT_113891.3:g.1146096T>C, NT_113891.2:g.1146202T>C, NT_167248.2:g.925125T>C, NT_167248.1:g.930721T>C, NT_167245.2:g.925170T>C, NT_167245.1:g.930755T>C, NT_167246.2:g.924742T>C, NT_167246.1:g.930362T>C, NT_167249.2:g.968656T>C, NT_167249.1:g.967954T>C, NT_167247.2:g.925006T>C, NT_167247.1:g.930591T>C, NT_167244.2:g.925333T>C, NT_167244.1:g.930927T>C, NM_206813.3:c.396T>C, NM_206813.4:c.396T>C, NM_206813.2:c.396T>C, NM_206813.1:c.315T>C

Select item 14383495258.

rs1438349525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29670297 (GRCh38)
6:29638074 (GRCh37)
Canonical SPDI:: NC_000006.12:29670296:G:A
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29670297G>A, NC_000006.11:g.29638074G>A, NG_031873.1:g.18317G>A, NM_206814.6:c.261G>A, NM_206814.5:c.261G>A, NM_002433.5:c.609G>A, NM_002433.4:c.609G>A, NM_206809.4:c.609G>A, NM_206809.3:c.609G>A, NM_001363610.2:c.609G>A, NM_001363610.1:c.609G>A, NT_113891.3:g.1156762G>A, NT_113891.2:g.1156868G>A, NT_167248.2:g.935794G>A, NT_167248.1:g.941390G>A, NT_167245.2:g.935839G>A, NT_167245.1:g.941424G>A, NT_167246.2:g.935411G>A, NT_167246.1:g.941031G>A, NT_167249.2:g.979329G>A, NT_167249.1:g.978627G>A, NT_167247.2:g.935675G>A, NT_167247.1:g.941260G>A, NT_167244.2:g.936001G>A, NT_167244.1:g.941595G>A, NM_206813.3:c.*231G>A, NM_206813.4:c.*231G>A, NM_206813.2:c.*231G>A, NM_206813.1:c.*231G>A, NM_001170417.1:c.261G>A

Select item 14366266419.

rs1436626641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:29659526 (GRCh38)
6:29627303 (GRCh37)
Canonical SPDI:: NC_000006.12:29659525:A:T
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29659526A>T, NC_000006.11:g.29627303A>T, NG_031873.1:g.7546A>T, NM_002433.5:c.296A>T, NM_002433.4:c.296A>T, NM_206809.4:c.296A>T, NM_206809.3:c.296A>T, NM_206812.4:c.296A>T, NM_206812.3:c.296A>T, NM_206811.4:c.296A>T, NM_206811.3:c.296A>T, NM_206810.4:c.296A>T, NM_206810.3:c.296A>T, NM_001008228.3:c.296A>T, NM_001008228.2:c.296A>T, NM_001008229.3:c.296A>T, NM_001008229.2:c.296A>T, NM_001363610.2:c.296A>T, NM_001363610.1:c.296A>T, NT_113891.3:g.1145996A>T, NT_113891.2:g.1146102A>T, NT_167248.2:g.925025A>T, NT_167248.1:g.930621A>T, NT_167245.2:g.925070A>T, NT_167245.1:g.930655A>T, NT_167246.2:g.924642A>T, NT_167246.1:g.930262A>T, NT_167249.2:g.968556A>T, NT_167249.1:g.967854A>T, NT_167247.2:g.924906A>T, NT_167247.1:g.930491A>T, NT_167244.2:g.925233A>T, NT_167244.1:g.930827A>T, NM_206813.3:c.296A>T, NM_206813.4:c.296A>T, NM_206813.2:c.296A>T, NM_206813.1:c.215A>T, NP_002424.3:p.Glu99Val, NP_996532.2:p.Glu99Val, NP_996535.2:p.Glu99Val, NP_996534.2:p.Glu99Val, NP_996533.2:p.Glu99Val, NP_001008229.1:p.Glu99Val, NP_001008230.1:p.Glu99Val, NP_001350539.1:p.Glu99Val

Select item 143236678410.

rs1432366784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:29659365 (GRCh38)
6:29627142 (GRCh37)
Canonical SPDI:: NC_000006.12:29659364:C:A,NC_000006.12:29659364:C:T
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.29659365C>A, NC_000006.12:g.29659365C>T, NC_000006.11:g.29627142C>A, NC_000006.11:g.29627142C>T, NG_031873.1:g.7385C>A, NG_031873.1:g.7385C>T, NM_002433.5:c.135C>A, NM_002433.5:c.135C>T, NM_002433.4:c.135C>A, NM_002433.4:c.135C>T, NM_206809.4:c.135C>A, NM_206809.4:c.135C>T, NM_206809.3:c.135C>A, NM_206809.3:c.135C>T, NM_206812.4:c.135C>A, NM_206812.4:c.135C>T, NM_206812.3:c.135C>A, NM_206812.3:c.135C>T, NM_206811.4:c.135C>A, NM_206811.4:c.135C>T, NM_206811.3:c.135C>A, NM_206811.3:c.135C>T, NM_206810.4:c.135C>A, NM_206810.4:c.135C>T, NM_206810.3:c.135C>A, NM_206810.3:c.135C>T, NM_001008228.3:c.135C>A, NM_001008228.3:c.135C>T, NM_001008228.2:c.135C>A, NM_001008228.2:c.135C>T, NM_001008229.3:c.135C>A, NM_001008229.3:c.135C>T, NM_001008229.2:c.135C>A, NM_001008229.2:c.135C>T, NM_001363610.2:c.135C>A, NM_001363610.2:c.135C>T, NM_001363610.1:c.135C>A, NM_001363610.1:c.135C>T, NT_113891.3:g.1145835C>A, NT_113891.3:g.1145835C>T, NT_113891.2:g.1145941C>A, NT_113891.2:g.1145941C>T, NT_167248.2:g.924864C>A, NT_167248.2:g.924864C>T, NT_167248.1:g.930460C>A, NT_167248.1:g.930460C>T, NT_167245.2:g.924909C>A, NT_167245.2:g.924909C>T, NT_167245.1:g.930494C>A, NT_167245.1:g.930494C>T, NT_167246.2:g.924481C>A, NT_167246.2:g.924481C>T, NT_167246.1:g.930101C>A, NT_167246.1:g.930101C>T, NT_167249.2:g.968395C>A, NT_167249.2:g.968395C>T, NT_167249.1:g.967693C>A, NT_167249.1:g.967693C>T, NT_167247.2:g.924745C>A, NT_167247.2:g.924745C>T, NT_167247.1:g.930330C>A, NT_167247.1:g.930330C>T, NT_167244.2:g.925072C>A, NT_167244.2:g.925072C>T, NT_167244.1:g.930666C>A, NT_167244.1:g.930666C>T, NM_206813.3:c.135C>A, NM_206813.3:c.135C>T, NM_206813.4:c.135C>A, NM_206813.4:c.135C>T, NM_206813.2:c.135C>A, NM_206813.2:c.135C>T, NM_206813.1:c.54C>A, NM_206813.1:c.54C>T

Select item 142807720711.

rs1428077207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29659323 (GRCh38)
6:29627100 (GRCh37)
Canonical SPDI:: NC_000006.12:29659322:G:A
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29659323G>A, NC_000006.11:g.29627100G>A, NG_031873.1:g.7343G>A, NM_002433.5:c.93G>A, NM_002433.4:c.93G>A, NM_206809.4:c.93G>A, NM_206809.3:c.93G>A, NM_206812.4:c.93G>A, NM_206812.3:c.93G>A, NM_206811.4:c.93G>A, NM_206811.3:c.93G>A, NM_206810.4:c.93G>A, NM_206810.3:c.93G>A, NM_001008228.3:c.93G>A, NM_001008228.2:c.93G>A, NM_001008229.3:c.93G>A, NM_001008229.2:c.93G>A, NM_001363610.2:c.93G>A, NM_001363610.1:c.93G>A, NT_113891.3:g.1145793G>A, NT_113891.2:g.1145899G>A, NT_167248.2:g.924822G>A, NT_167248.1:g.930418G>A, NT_167245.2:g.924867G>A, NT_167245.1:g.930452G>A, NT_167246.2:g.924439G>A, NT_167246.1:g.930059G>A, NT_167249.2:g.968353G>A, NT_167249.1:g.967651G>A, NT_167247.2:g.924703G>A, NT_167247.1:g.930288G>A, NT_167244.2:g.925030G>A, NT_167244.1:g.930624G>A, NM_206813.3:c.93G>A, NM_206813.4:c.93G>A, NM_206813.2:c.93G>A, NM_206813.1:c.12G>A

Select item 142540800312.

rs1425408003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29657277 (GRCh38)
6:29625054 (GRCh37)
Canonical SPDI:: NC_000006.12:29657276:A:G
Gene:: MOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.29657277A>G, NC_000006.11:g.29625054A>G, NG_031873.1:g.5297A>G, NM_206814.6:c.68A>G, NM_206814.5:c.68A>G, NM_002433.5:c.68A>G, NM_002433.4:c.68A>G, NM_206809.4:c.68A>G, NM_206809.3:c.68A>G, NM_206812.4:c.68A>G, NM_206812.3:c.68A>G, NM_206811.4:c.68A>G, NM_206811.3:c.68A>G, NM_206810.4:c.68A>G, NM_206810.3:c.68A>G, NM_001008228.3:c.68A>G, NM_001008228.2:c.68A>G, NM_001008229.3:c.68A>G, NM_001008229.2:c.68A>G, NM_001363610.2:c.68A>G, NM_001363610.1:c.68A>G, NM_001170418.2:c.68A>G, NM_001170418.1:c.68A>G, NT_113891.3:g.1143749A>G, NT_113891.2:g.1143855A>G, NT_167248.2:g.922777A>G, NT_167248.1:g.928373A>G, NT_167245.2:g.922822A>G, NT_167245.1:g.928407A>G, NT_167246.2:g.922394A>G, NT_167246.1:g.928014A>G, NT_167249.2:g.966312A>G, NT_167249.1:g.965610A>G, NT_167247.2:g.922658A>G, NT_167247.1:g.928243A>G, NT_167244.2:g.922986A>G, NT_167244.1:g.928580A>G, NM_206813.3:c.68A>G, NM_206813.4:c.68A>G, NM_206813.2:c.68A>G, NM_206813.1:c.-15A>G, NM_001170417.1:c.68A>G, NP_996537.3:p.Gln23Arg, NP_002424.3:p.Gln23Arg, NP_996532.2:p.Gln23Arg, NP_996535.2:p.Gln23Arg, NP_996534.2:p.Gln23Arg, NP_996533.2:p.Gln23Arg, NP_001008229.1:p.Gln23Arg, NP_001008230.1:p.Gln23Arg, NP_001350539.1:p.Gln23Arg, NP_001163889.1:p.Gln23Arg

Select item 141878672213.

rs1418786722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:29670283 (GRCh38)
6:29638060 (GRCh37)
Canonical SPDI:: NC_000006.12:29670282:C:A
Gene:: MOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.29670283C>A, NC_000006.11:g.29638060C>A, NG_031873.1:g.18303C>A, NM_206814.6:c.247C>A, NM_206814.5:c.247C>A, NM_002433.5:c.595C>A, NM_002433.4:c.595C>A, NM_206809.4:c.595C>A, NM_206809.3:c.595C>A, NM_001363610.2:c.595C>A, NM_001363610.1:c.595C>A, NT_113891.3:g.1156748C>A, NT_113891.2:g.1156854C>A, NT_167248.2:g.935780C>A, NT_167248.1:g.941376C>A, NT_167245.2:g.935825C>A, NT_167245.1:g.941410C>A, NT_167246.2:g.935397C>A, NT_167246.1:g.941017C>A, NT_167249.2:g.979315C>A, NT_167249.1:g.978613C>A, NT_167247.2:g.935661C>A, NT_167247.1:g.941246C>A, NT_167244.2:g.935987C>A, NT_167244.1:g.941581C>A, NM_206813.3:c.*217C>A, NM_206813.4:c.*217C>A, NM_206813.2:c.*217C>A, NM_206813.1:c.*217C>A, NM_001170417.1:c.247C>A, NP_996537.3:p.Pro83Thr, NP_002424.3:p.Pro199Thr, NP_996532.2:p.Pro199Thr, NP_001350539.1:p.Pro199Thr

Select item 141316692114.

rs1413166921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29659518 (GRCh38)
6:29627295 (GRCh37)
Canonical SPDI:: NC_000006.12:29659517:C:T
Gene:: MOG (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29659518C>T, NC_000006.11:g.29627295C>T, NG_031873.1:g.7538C>T, NM_002433.5:c.288C>T, NM_002433.4:c.288C>T, NM_206809.4:c.288C>T, NM_206809.3:c.288C>T, NM_206812.4:c.288C>T, NM_206812.3:c.288C>T, NM_206811.4:c.288C>T, NM_206811.3:c.288C>T, NM_206810.4:c.288C>T, NM_206810.3:c.288C>T, NM_001008228.3:c.288C>T, NM_001008228.2:c.288C>T, NM_001008229.3:c.288C>T, NM_001008229.2:c.288C>T, NM_001363610.2:c.288C>T, NM_001363610.1:c.288C>T, NT_113891.3:g.1145988C>T, NT_113891.2:g.1146094C>T, NT_167248.2:g.925017C>T, NT_167248.1:g.930613C>T, NT_167245.2:g.925062C>T, NT_167245.1:g.930647C>T, NT_167246.2:g.924634C>T, NT_167246.1:g.930254C>T, NT_167249.2:g.968548C>T, NT_167249.1:g.967846C>T, NT_167247.2:g.924898C>T, NT_167247.1:g.930483C>T, NT_167244.2:g.925225C>T, NT_167244.1:g.930819C>T, NM_206813.3:c.288C>T, NM_206813.4:c.288C>T, NM_206813.2:c.288C>T, NM_206813.1:c.207C>T

Select item 141161615215.

rs1411616152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29659543 (GRCh38)
6:29627320 (GRCh37)
Canonical SPDI:: NC_000006.12:29659542:A:G
Gene:: MOG (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 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.29659543A>G, NC_000006.11:g.29627320A>G, NG_031873.1:g.7563A>G, NM_002433.5:c.313A>G, NM_002433.4:c.313A>G, NM_206809.4:c.313A>G, NM_206809.3:c.313A>G, NM_206812.4:c.313A>G, NM_206812.3:c.313A>G, NM_206811.4:c.313A>G, NM_206811.3:c.313A>G, NM_206810.4:c.313A>G, NM_206810.3:c.313A>G, NM_001008228.3:c.313A>G, NM_001008228.2:c.313A>G, NM_001008229.3:c.313A>G, NM_001008229.2:c.313A>G, NM_001363610.2:c.313A>G, NM_001363610.1:c.313A>G, NT_113891.3:g.1146013A>G, NT_113891.2:g.1146119A>G, NT_167248.2:g.925042A>G, NT_167248.1:g.930638A>G, NT_167245.2:g.925087A>G, NT_167245.1:g.930672A>G, NT_167246.2:g.924659A>G, NT_167246.1:g.930279A>G, NT_167249.2:g.968573A>G, NT_167249.1:g.967871A>G, NT_167247.2:g.924923A>G, NT_167247.1:g.930508A>G, NT_167244.2:g.925250A>G, NT_167244.1:g.930844A>G, NM_206813.3:c.313A>G, NM_206813.4:c.313A>G, NM_206813.2:c.313A>G, NM_206813.1:c.232A>G, NP_002424.3:p.Ile105Val, NP_996532.2:p.Ile105Val, NP_996535.2:p.Ile105Val, NP_996534.2:p.Ile105Val, NP_996533.2:p.Ile105Val, NP_001008229.1:p.Ile105Val, NP_001008230.1:p.Ile105Val, NP_001350539.1:p.Ile105Val

Select item 141100998216.

rs1411009982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29657218 (GRCh38)
6:29624995 (GRCh37)
Canonical SPDI:: NC_000006.12:29657217:C:T
Gene:: MOG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29657218C>T, NC_000006.11:g.29624995C>T, NG_031873.1:g.5238C>T, NM_206814.6:c.9C>T, NM_206814.5:c.9C>T, NM_002433.5:c.9C>T, NM_002433.4:c.9C>T, NM_206809.4:c.9C>T, NM_206809.3:c.9C>T, NM_206812.4:c.9C>T, NM_206812.3:c.9C>T, NM_206811.4:c.9C>T, NM_206811.3:c.9C>T, NM_206810.4:c.9C>T, NM_206810.3:c.9C>T, NM_001008228.3:c.9C>T, NM_001008228.2:c.9C>T, NM_001008229.3:c.9C>T, NM_001008229.2:c.9C>T, NM_001363610.2:c.9C>T, NM_001363610.1:c.9C>T, NM_001170418.2:c.9C>T, NM_001170418.1:c.9C>T, NT_113891.3:g.1143690C>T, NT_113891.2:g.1143796C>T, NT_167248.2:g.922718C>T, NT_167248.1:g.928314C>T, NT_167245.2:g.922763C>T, NT_167245.1:g.928348C>T, NT_167246.2:g.922335C>T, NT_167246.1:g.927955C>T, NT_167249.2:g.966253C>T, NT_167249.1:g.965551C>T, NT_167247.2:g.922599C>T, NT_167247.1:g.928184C>T, NT_167244.2:g.922927C>T, NT_167244.1:g.928521C>T, NM_206813.3:c.9C>T, NM_206813.4:c.9C>T, NM_206813.2:c.9C>T, NM_001170417.1:c.9C>T, NM_206813.1:c.-74C>T

Select item 140561606517.

rs1405616065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29659615 (GRCh38)
6:29627392 (GRCh37)
Canonical SPDI:: NC_000006.12:29659614:T:C
Gene:: MOG (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 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29659615T>C, NC_000006.11:g.29627392T>C, NG_031873.1:g.7635T>C, NM_002433.5:c.385T>C, NM_002433.4:c.385T>C, NM_206809.4:c.385T>C, NM_206809.3:c.385T>C, NM_206812.4:c.385T>C, NM_206812.3:c.385T>C, NM_206811.4:c.385T>C, NM_206811.3:c.385T>C, NM_206810.4:c.385T>C, NM_206810.3:c.385T>C, NM_001008228.3:c.385T>C, NM_001008228.2:c.385T>C, NM_001008229.3:c.385T>C, NM_001008229.2:c.385T>C, NM_001363610.2:c.385T>C, NM_001363610.1:c.385T>C, NT_113891.3:g.1146085T>C, NT_113891.2:g.1146191T>C, NT_167248.2:g.925114T>C, NT_167248.1:g.930710T>C, NT_167245.2:g.925159T>C, NT_167245.1:g.930744T>C, NT_167246.2:g.924731T>C, NT_167246.1:g.930351T>C, NT_167249.2:g.968645T>C, NT_167249.1:g.967943T>C, NT_167247.2:g.924995T>C, NT_167247.1:g.930580T>C, NT_167244.2:g.925322T>C, NT_167244.1:g.930916T>C, NM_206813.3:c.385T>C, NM_206813.4:c.385T>C, NM_206813.1:c.304T>C, NM_206813.2:c.385T>C, NP_002424.3:p.Phe129Leu, NP_996532.2:p.Phe129Leu, NP_996535.2:p.Phe129Leu, NP_996534.2:p.Phe129Leu, NP_996533.2:p.Phe129Leu, NP_001008229.1:p.Phe129Leu, NP_001008230.1:p.Phe129Leu, NP_001350539.1:p.Phe129Leu

Select item 139093493318.

rs1390934933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29657213 (GRCh38)
6:29624990 (GRCh37)
Canonical SPDI:: NC_000006.12:29657212:G:A
Gene:: MOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.29657213G>A, NC_000006.11:g.29624990G>A, NG_031873.1:g.5233G>A, NM_206814.6:c.4G>A, NM_206814.5:c.4G>A, NM_002433.5:c.4G>A, NM_002433.4:c.4G>A, NM_206809.4:c.4G>A, NM_206809.3:c.4G>A, NM_206812.4:c.4G>A, NM_206812.3:c.4G>A, NM_206811.4:c.4G>A, NM_206811.3:c.4G>A, NM_206810.4:c.4G>A, NM_206810.3:c.4G>A, NM_001008228.3:c.4G>A, NM_001008228.2:c.4G>A, NM_001008229.3:c.4G>A, NM_001008229.2:c.4G>A, NM_001363610.2:c.4G>A, NM_001363610.1:c.4G>A, NM_001170418.2:c.4G>A, NM_001170418.1:c.4G>A, NT_113891.3:g.1143685G>A, NT_113891.2:g.1143791G>A, NT_167248.2:g.922713G>A, NT_167248.1:g.928309G>A, NT_167245.2:g.922758G>A, NT_167245.1:g.928343G>A, NT_167246.2:g.922330G>A, NT_167246.1:g.927950G>A, NT_167249.2:g.966248G>A, NT_167249.1:g.965546G>A, NT_167247.2:g.922594G>A, NT_167247.1:g.928179G>A, NT_167244.2:g.922922G>A, NT_167244.1:g.928516G>A, NM_206813.3:c.4G>A, NM_206813.4:c.4G>A, NM_206813.2:c.4G>A, NM_001170417.1:c.4G>A, NM_206813.1:c.-79G>A, NP_996537.3:p.Ala2Thr, NP_002424.3:p.Ala2Thr, NP_996532.2:p.Ala2Thr, NP_996535.2:p.Ala2Thr, NP_996534.2:p.Ala2Thr, NP_996533.2:p.Ala2Thr, NP_001008229.1:p.Ala2Thr, NP_001008230.1:p.Ala2Thr, NP_001350539.1:p.Ala2Thr, NP_001163889.1:p.Ala2Thr

Select item 138819171619.

rs1388191716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:29670321 (GRCh38)
6:29638098 (GRCh37)
Canonical SPDI:: NC_000006.12:29670320:G:C
Gene:: MOG (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29670321G>C, NC_000006.11:g.29638098G>C, NG_031873.1:g.18341G>C, NM_206814.6:c.285G>C, NM_206814.5:c.285G>C, NM_002433.5:c.633G>C, NM_002433.4:c.633G>C, NM_206809.4:c.633G>C, NM_206809.3:c.633G>C, NM_001363610.2:c.633G>C, NM_001363610.1:c.633G>C, NT_113891.3:g.1156786G>C, NT_113891.2:g.1156892G>C, NT_167248.2:g.935818G>C, NT_167248.1:g.941414G>C, NT_167245.2:g.935863G>C, NT_167245.1:g.941448G>C, NT_167246.2:g.935435G>C, NT_167246.1:g.941055G>C, NT_167249.2:g.979353G>C, NT_167249.1:g.978651G>C, NT_167247.2:g.935699G>C, NT_167247.1:g.941284G>C, NT_167244.2:g.936025G>C, NT_167244.1:g.941619G>C, NM_206813.3:c.*255G>C, NM_206813.4:c.*255G>C, NM_001170417.1:c.285G>C, NM_206813.2:c.*255G>C, NM_206813.1:c.*255G>C

Select item 138655017620.

rs1386550176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29670314 (GRCh38)
6:29638091 (GRCh37)
Canonical SPDI:: NC_000006.12:29670313:T:C
Gene:: MOG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29670314T>C, NC_000006.11:g.29638091T>C, NG_031873.1:g.18334T>C, NM_206814.6:c.278T>C, NM_206814.5:c.278T>C, NM_002433.5:c.626T>C, NM_002433.4:c.626T>C, NM_206809.4:c.626T>C, NM_206809.3:c.626T>C, NM_001363610.2:c.626T>C, NM_001363610.1:c.626T>C, NT_113891.3:g.1156779T>C, NT_113891.2:g.1156885T>C, NT_167248.2:g.935811T>C, NT_167248.1:g.941407T>C, NT_167245.2:g.935856T>C, NT_167245.1:g.941441T>C, NT_167246.2:g.935428T>C, NT_167246.1:g.941048T>C, NT_167249.2:g.979346T>C, NT_167249.1:g.978644T>C, NT_167247.2:g.935692T>C, NT_167247.1:g.941277T>C, NT_167244.2:g.936018T>C, NT_167244.1:g.941612T>C, NM_206813.3:c.*248T>C, NM_206813.4:c.*248T>C, NM_206813.2:c.*248T>C, NM_206813.1:c.*248T>C, NM_001170417.1:c.278T>C, NP_996537.3:p.Ile93Thr, NP_002424.3:p.Ile209Thr, NP_996532.2:p.Ile209Thr, NP_001350539.1:p.Ile209Thr

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