SNP Links for Protein (Select 1034625026) - SNP

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Links from Protein

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Select item 14768206901.

rs1476820690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58910350 (GRCh38)
20:57485405 (GRCh37)
Canonical SPDI:: NC_000020.11:58910349:A:G
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58910350A>G, NC_000020.10:g.57485405A>G, NG_016194.2:g.75611A>G, NM_000516.7:c.987A>G, NM_000516.6:c.987A>G, NM_000516.5:c.987A>G, NM_000516.4:c.987A>G, NM_016592.5:c.*893A>G, NM_016592.4:c.*893A>G, NM_016592.3:c.*893A>G, NM_016592.2:c.*893A>G, NM_001077488.5:c.990A>G, NM_001077488.4:c.990A>G, NM_001077488.3:c.990A>G, NM_001077488.2:c.990A>G, NM_080425.4:c.2916A>G, NM_080425.3:c.2916A>G, NM_080425.2:c.2916A>G, NM_080426.4:c.945A>G, NM_080426.3:c.945A>G, NM_080426.2:c.945A>G, NM_001077489.4:c.942A>G, NM_001077489.3:c.942A>G, NM_001077489.2:c.942A>G, NM_001077490.3:c.*848A>G, NM_001077490.2:c.*848A>G, NM_001077490.1:c.*848A>G, NM_001309861.2:c.810A>G, NM_001309861.1:c.810A>G, NM_001309840.2:c.810A>G, NM_001309840.1:c.810A>G, XM_017027812.3:c.2919A>G, XM_017027812.2:c.2919A>G, XM_017027812.1:c.2919A>G, XM_017027813.3:c.2874A>G, XM_017027813.2:c.2874A>G, XM_017027813.1:c.2874A>G, XM_017027814.3:c.2871A>G, XM_017027818.3:c.765A>G, XM_017027818.2:c.765A>G, XM_017027818.1:c.765A>G, XM_024451872.2:c.891A>G, XM_017027815.2:c.846A>G, XM_017027815.1:c.846A>G, XM_024451875.2:c.810A>G, XM_024451875.1:c.810A>G, XM_017027817.2:c.765A>G, XM_017027817.1:c.765A>G, XM_017027819.2:c.765A>G, XM_017027819.1:c.765A>G, XM_024451873.2:c.810A>G, XM_024451873.1:c.810A>G, NM_001410913.1:c.2871A>G, XM_047440113.1:c.894A>G, NM_001410912.1:c.891A>G, XM_047440116.1:c.813A>G, XM_047440121.1:c.765A>G, XM_047440123.1:c.765A>G, XM_047440114.1:c.813A>G, NR_003259.1:n.1077A>G, XM_047440122.1:c.765A>G, XM_047440125.1:c.813A>G, XM_047440117.1:c.813A>G, XM_047440118.1:c.768A>G, XM_047440120.1:c.768A>G, XM_047440115.1:c.813A>G, XM_017027820.1:c.765A>G, XM_047440124.1:c.765A>G, XM_047440119.1:c.768A>G

Select item 14728158662.

rs1472815866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:58909373 (GRCh38)
20:57484428 (GRCh37)
Canonical SPDI:: NC_000020.11:58909372:G:A,NC_000020.11:58909372:G:C,NC_000020.11:58909372:G:T
Gene:: GNAS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.58909373G>A, NC_000020.11:g.58909373G>C, NC_000020.11:g.58909373G>T, NC_000020.10:g.57484428G>A, NC_000020.10:g.57484428G>C, NC_000020.10:g.57484428G>T, NG_016194.2:g.74634G>A, NG_016194.2:g.74634G>C, NG_016194.2:g.74634G>T, NM_000516.7:c.609G>A, NM_000516.7:c.609G>C, NM_000516.7:c.609G>T, NM_000516.6:c.609G>A, NM_000516.6:c.609G>C, NM_000516.6:c.609G>T, NM_000516.5:c.609G>A, NM_000516.5:c.609G>C, NM_000516.5:c.609G>T, NM_000516.4:c.609G>A, NM_000516.4:c.609G>C, NM_000516.4:c.609G>T, NM_016592.5:c.*515G>A, NM_016592.5:c.*515G>C, NM_016592.5:c.*515G>T, NM_016592.4:c.*515G>A, NM_016592.4:c.*515G>C, NM_016592.4:c.*515G>T, NM_016592.3:c.*515G>A, NM_016592.3:c.*515G>C, NM_016592.3:c.*515G>T, NM_016592.2:c.*515G>A, NM_016592.2:c.*515G>C, NM_016592.2:c.*515G>T, NM_001077488.5:c.612G>A, NM_001077488.5:c.612G>C, NM_001077488.5:c.612G>T, NM_001077488.4:c.612G>A, NM_001077488.4:c.612G>C, NM_001077488.4:c.612G>T, NM_001077488.3:c.612G>A, NM_001077488.3:c.612G>C, NM_001077488.3:c.612G>T, NM_001077488.2:c.612G>A, NM_001077488.2:c.612G>C, NM_001077488.2:c.612G>T, NM_080425.4:c.2538G>A, NM_080425.4:c.2538G>C, NM_080425.4:c.2538G>T, NM_080425.3:c.2538G>A, NM_080425.3:c.2538G>C, NM_080425.3:c.2538G>T, NM_080425.2:c.2538G>A, NM_080425.2:c.2538G>C, NM_080425.2:c.2538G>T, NM_080426.4:c.567G>A, NM_080426.4:c.567G>C, NM_080426.4:c.567G>T, NM_080426.3:c.567G>A, NM_080426.3:c.567G>C, NM_080426.3:c.567G>T, NM_080426.2:c.567G>A, NM_080426.2:c.567G>C, NM_080426.2:c.567G>T, NM_001077489.4:c.564G>A, NM_001077489.4:c.564G>C, NM_001077489.4:c.564G>T, NM_001077489.3:c.564G>A, NM_001077489.3:c.564G>C, NM_001077489.3:c.564G>T, NM_001077489.2:c.564G>A, NM_001077489.2:c.564G>C, NM_001077489.2:c.564G>T, NM_001077490.3:c.*470G>A, NM_001077490.3:c.*470G>C, NM_001077490.3:c.*470G>T, NM_001077490.2:c.*470G>A, NM_001077490.2:c.*470G>C, NM_001077490.2:c.*470G>T, NM_001077490.1:c.*470G>A, NM_001077490.1:c.*470G>C, NM_001077490.1:c.*470G>T, NM_001309861.2:c.432G>A, NM_001309861.2:c.432G>C, NM_001309861.2:c.432G>T, NM_001309861.1:c.432G>A, NM_001309861.1:c.432G>C, NM_001309861.1:c.432G>T, NM_001309840.2:c.432G>A, NM_001309840.2:c.432G>C, NM_001309840.2:c.432G>T, NM_001309840.1:c.432G>A, NM_001309840.1:c.432G>C, NM_001309840.1:c.432G>T, XM_017027812.3:c.2541G>A, XM_017027812.3:c.2541G>C, XM_017027812.3:c.2541G>T, XM_017027812.2:c.2541G>A, XM_017027812.2:c.2541G>C, XM_017027812.2:c.2541G>T, XM_017027812.1:c.2541G>A, XM_017027812.1:c.2541G>C, XM_017027812.1:c.2541G>T, XM_017027813.3:c.2496G>A, XM_017027813.3:c.2496G>C, XM_017027813.3:c.2496G>T, XM_017027813.2:c.2496G>A, XM_017027813.2:c.2496G>C, XM_017027813.2:c.2496G>T, XM_017027813.1:c.2496G>A, XM_017027813.1:c.2496G>C, XM_017027813.1:c.2496G>T, XM_017027814.3:c.2493G>A, XM_017027814.3:c.2493G>C, XM_017027814.3:c.2493G>T, XM_017027818.3:c.387G>A, XM_017027818.3:c.387G>C, XM_017027818.3:c.387G>T, XM_017027818.2:c.387G>A, XM_017027818.2:c.387G>C, XM_017027818.2:c.387G>T, XM_017027818.1:c.387G>A, XM_017027818.1:c.387G>C, XM_017027818.1:c.387G>T, XM_024451872.2:c.513G>A, XM_024451872.2:c.513G>C, XM_024451872.2:c.513G>T, XM_017027815.2:c.468G>A, XM_017027815.2:c.468G>C, XM_017027815.2:c.468G>T, XM_017027815.1:c.468G>A, XM_017027815.1:c.468G>C, XM_017027815.1:c.468G>T, XM_024451875.2:c.432G>A, XM_024451875.2:c.432G>C, XM_024451875.2:c.432G>T, XM_024451875.1:c.432G>A, XM_024451875.1:c.432G>C, XM_024451875.1:c.432G>T, XM_017027817.2:c.387G>A, XM_017027817.2:c.387G>C, XM_017027817.2:c.387G>T, XM_017027817.1:c.387G>A, XM_017027817.1:c.387G>C, XM_017027817.1:c.387G>T, XM_017027819.2:c.387G>A, XM_017027819.2:c.387G>C, XM_017027819.2:c.387G>T, XM_017027819.1:c.387G>A, XM_017027819.1:c.387G>C, XM_017027819.1:c.387G>T, XM_024451873.2:c.432G>A, XM_024451873.2:c.432G>C, XM_024451873.2:c.432G>T, XM_024451873.1:c.432G>A, XM_024451873.1:c.432G>C, XM_024451873.1:c.432G>T, NM_001410913.1:c.2493G>A, NM_001410913.1:c.2493G>C, NM_001410913.1:c.2493G>T, XM_047440113.1:c.516G>A, XM_047440113.1:c.516G>C, XM_047440113.1:c.516G>T, NM_001410912.1:c.513G>A, NM_001410912.1:c.513G>C, NM_001410912.1:c.513G>T, XM_047440116.1:c.435G>A, XM_047440116.1:c.435G>C, XM_047440116.1:c.435G>T, XM_047440121.1:c.387G>A, XM_047440121.1:c.387G>C, XM_047440121.1:c.387G>T, XM_047440123.1:c.387G>A, XM_047440123.1:c.387G>C, XM_047440123.1:c.387G>T, XM_047440114.1:c.435G>A, XM_047440114.1:c.435G>C, XM_047440114.1:c.435G>T, NR_003259.1:n.699G>A, NR_003259.1:n.699G>C, NR_003259.1:n.699G>T, XM_047440122.1:c.387G>A, XM_047440122.1:c.387G>C, XM_047440122.1:c.387G>T, XM_047440125.1:c.435G>A, XM_047440125.1:c.435G>C, XM_047440125.1:c.435G>T, XM_047440117.1:c.435G>A, XM_047440117.1:c.435G>C, XM_047440117.1:c.435G>T, XM_047440118.1:c.390G>A, XM_047440118.1:c.390G>C, XM_047440118.1:c.390G>T, XM_047440120.1:c.390G>A, XM_047440120.1:c.390G>C, XM_047440120.1:c.390G>T, XM_047440115.1:c.435G>A, XM_047440115.1:c.435G>C, XM_047440115.1:c.435G>T, XM_017027820.1:c.387G>A, XM_017027820.1:c.387G>C, XM_017027820.1:c.387G>T, XM_047440124.1:c.387G>A, XM_047440124.1:c.387G>C, XM_047440124.1:c.387G>T, XM_047440119.1:c.390G>A, XM_047440119.1:c.390G>C, XM_047440119.1:c.390G>T

Select item 14642840743.

rs1464284074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58909195 (GRCh38)
20:57484250 (GRCh37)
Canonical SPDI:: NC_000020.11:58909194:T:C
Gene:: GNAS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58909195T>C, NC_000020.10:g.57484250T>C, NG_016194.2:g.74456T>C, NM_000516.7:c.564T>C, NM_000516.6:c.564T>C, NM_000516.5:c.564T>C, NM_000516.4:c.564T>C, NM_016592.5:c.*470T>C, NM_016592.4:c.*470T>C, NM_016592.3:c.*470T>C, NM_016592.2:c.*470T>C, NM_001077488.5:c.567T>C, NM_001077488.4:c.567T>C, NM_001077488.3:c.567T>C, NM_001077488.2:c.567T>C, NM_080425.4:c.2493T>C, NM_080425.3:c.2493T>C, NM_080425.2:c.2493T>C, NM_080426.4:c.522T>C, NM_080426.3:c.522T>C, NM_080426.2:c.522T>C, NM_001077489.4:c.519T>C, NM_001077489.3:c.519T>C, NM_001077489.2:c.519T>C, NM_001077490.3:c.*425T>C, NM_001077490.2:c.*425T>C, NM_001077490.1:c.*425T>C, NM_001309861.2:c.387T>C, NM_001309861.1:c.387T>C, NM_001309840.2:c.387T>C, NM_001309840.1:c.387T>C, XM_017027812.3:c.2496T>C, XM_017027812.2:c.2496T>C, XM_017027812.1:c.2496T>C, XM_017027813.3:c.2451T>C, XM_017027813.2:c.2451T>C, XM_017027813.1:c.2451T>C, XM_017027814.3:c.2448T>C, XM_017027818.3:c.342T>C, XM_017027818.2:c.342T>C, XM_017027818.1:c.342T>C, XM_024451872.2:c.468T>C, XM_017027815.2:c.423T>C, XM_017027815.1:c.423T>C, XM_024451875.2:c.387T>C, XM_024451875.1:c.387T>C, XM_017027817.2:c.342T>C, XM_017027817.1:c.342T>C, XM_017027819.2:c.342T>C, XM_017027819.1:c.342T>C, XM_024451873.2:c.387T>C, XM_024451873.1:c.387T>C, NM_001410913.1:c.2448T>C, XM_047440113.1:c.471T>C, NM_001410912.1:c.468T>C, XM_047440116.1:c.390T>C, XM_047440121.1:c.342T>C, XM_047440123.1:c.342T>C, XM_047440114.1:c.390T>C, NR_003259.1:n.654T>C, XM_047440122.1:c.342T>C, XM_047440125.1:c.390T>C, XM_047440117.1:c.390T>C, XM_047440118.1:c.345T>C, XM_047440120.1:c.345T>C, XM_047440115.1:c.390T>C, XM_017027820.1:c.342T>C, XM_047440124.1:c.342T>C, XM_047440119.1:c.345T>C

Select item 14578846294.

rs1457884629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:58909966 (GRCh38)
20:57485021 (GRCh37)
Canonical SPDI:: NC_000020.11:58909965:C:G,NC_000020.11:58909965:C:T
Gene:: GNAS (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.58909966C>G, NC_000020.11:g.58909966C>T, NC_000020.10:g.57485021C>G, NC_000020.10:g.57485021C>T, NG_016194.2:g.75227C>G, NG_016194.2:g.75227C>T, NM_000516.7:c.855C>G, NM_000516.7:c.855C>T, NM_000516.6:c.855C>G, NM_000516.6:c.855C>T, NM_000516.5:c.855C>G, NM_000516.5:c.855C>T, NM_000516.4:c.855C>G, NM_000516.4:c.855C>T, NM_016592.5:c.*761C>G, NM_016592.5:c.*761C>T, NM_016592.4:c.*761C>G, NM_016592.4:c.*761C>T, NM_016592.3:c.*761C>G, NM_016592.3:c.*761C>T, NM_016592.2:c.*761C>G, NM_016592.2:c.*761C>T, NM_001077488.5:c.858C>G, NM_001077488.5:c.858C>T, NM_001077488.4:c.858C>G, NM_001077488.4:c.858C>T, NM_001077488.3:c.858C>G, NM_001077488.3:c.858C>T, NM_001077488.2:c.858C>G, NM_001077488.2:c.858C>T, NM_080425.4:c.2784C>G, NM_080425.4:c.2784C>T, NM_080425.3:c.2784C>G, NM_080425.3:c.2784C>T, NM_080425.2:c.2784C>G, NM_080425.2:c.2784C>T, NM_080426.4:c.813C>G, NM_080426.4:c.813C>T, NM_080426.3:c.813C>G, NM_080426.3:c.813C>T, NM_080426.2:c.813C>G, NM_080426.2:c.813C>T, NM_001077489.4:c.810C>G, NM_001077489.4:c.810C>T, NM_001077489.3:c.810C>G, NM_001077489.3:c.810C>T, NM_001077489.2:c.810C>G, NM_001077489.2:c.810C>T, NM_001077490.3:c.*716C>G, NM_001077490.3:c.*716C>T, NM_001077490.2:c.*716C>G, NM_001077490.2:c.*716C>T, NM_001077490.1:c.*716C>G, NM_001077490.1:c.*716C>T, NM_001309861.2:c.678C>G, NM_001309861.2:c.678C>T, NM_001309861.1:c.678C>G, NM_001309861.1:c.678C>T, NM_001309840.2:c.678C>G, NM_001309840.2:c.678C>T, NM_001309840.1:c.678C>G, NM_001309840.1:c.678C>T, XM_017027812.3:c.2787C>G, XM_017027812.3:c.2787C>T, XM_017027812.2:c.2787C>G, XM_017027812.2:c.2787C>T, XM_017027812.1:c.2787C>G, XM_017027812.1:c.2787C>T, XM_017027813.3:c.2742C>G, XM_017027813.3:c.2742C>T, XM_017027813.2:c.2742C>G, XM_017027813.2:c.2742C>T, XM_017027813.1:c.2742C>G, XM_017027813.1:c.2742C>T, XM_017027814.3:c.2739C>G, XM_017027814.3:c.2739C>T, XM_017027818.3:c.633C>G, XM_017027818.3:c.633C>T, XM_017027818.2:c.633C>G, XM_017027818.2:c.633C>T, XM_017027818.1:c.633C>G, XM_017027818.1:c.633C>T, XM_024451872.2:c.759C>G, XM_024451872.2:c.759C>T, XM_017027815.2:c.714C>G, XM_017027815.2:c.714C>T, XM_017027815.1:c.714C>G, XM_017027815.1:c.714C>T, XM_024451875.2:c.678C>G, XM_024451875.2:c.678C>T, XM_024451875.1:c.678C>G, XM_024451875.1:c.678C>T, XM_017027817.2:c.633C>G, XM_017027817.2:c.633C>T, XM_017027817.1:c.633C>G, XM_017027817.1:c.633C>T, XM_017027819.2:c.633C>G, XM_017027819.2:c.633C>T, XM_017027819.1:c.633C>G, XM_017027819.1:c.633C>T, XM_024451873.2:c.678C>G, XM_024451873.2:c.678C>T, XM_024451873.1:c.678C>G, XM_024451873.1:c.678C>T, NM_001410913.1:c.2739C>G, NM_001410913.1:c.2739C>T, XM_047440113.1:c.762C>G, XM_047440113.1:c.762C>T, NM_001410912.1:c.759C>G, NM_001410912.1:c.759C>T, XM_047440116.1:c.681C>G, XM_047440116.1:c.681C>T, XM_047440121.1:c.633C>G, XM_047440121.1:c.633C>T, XM_047440123.1:c.633C>G, XM_047440123.1:c.633C>T, XM_047440114.1:c.681C>G, XM_047440114.1:c.681C>T, NR_003259.1:n.945C>G, NR_003259.1:n.945C>T, XM_047440122.1:c.633C>G, XM_047440122.1:c.633C>T, XM_047440125.1:c.681C>G, XM_047440125.1:c.681C>T, XM_047440117.1:c.681C>G, XM_047440117.1:c.681C>T, XM_047440118.1:c.636C>G, XM_047440118.1:c.636C>T, XM_047440120.1:c.636C>G, XM_047440120.1:c.636C>T, XM_047440115.1:c.681C>G, XM_047440115.1:c.681C>T, XM_017027820.1:c.633C>G, XM_017027820.1:c.633C>T, XM_047440124.1:c.633C>G, XM_047440124.1:c.633C>T, XM_047440119.1:c.636C>G, XM_047440119.1:c.636C>T, NP_000507.1:p.Ile285Met, NP_001070956.1:p.Ile286Met, NP_536350.2:p.Ile928Met, NP_536351.1:p.Ile271Met, NP_001070957.1:p.Ile270Met, NP_001296790.1:p.Ile226Met, NP_001296769.1:p.Ile226Met, XP_016883301.1:p.Ile929Met, XP_016883302.1:p.Ile914Met, XP_016883303.1:p.Ile913Met, XP_016883307.1:p.Ile211Met, XP_024307640.1:p.Ile253Met, XP_016883304.1:p.Ile238Met, XP_024307643.1:p.Ile226Met, XP_016883306.1:p.Ile211Met, XP_016883308.1:p.Ile211Met, XP_024307641.1:p.Ile226Met, XP_047296069.1:p.Ile254Met, XP_047296072.1:p.Ile227Met, XP_047296077.1:p.Ile211Met, XP_047296079.1:p.Ile211Met, XP_047296070.1:p.Ile227Met, XP_047296078.1:p.Ile211Met, XP_047296081.1:p.Ile227Met, XP_047296073.1:p.Ile227Met, XP_047296074.1:p.Ile212Met, XP_047296076.1:p.Ile212Met, XP_047296071.1:p.Ile227Met, XP_016883309.1:p.Ile211Met, XP_047296080.1:p.Ile211Met, XP_047296075.1:p.Ile212Met

Select item 14439023815.

rs1443902381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58910821 (GRCh38)
20:57485876 (GRCh37)
Canonical SPDI:: NC_000020.11:58910820:C:T
Gene:: GNAS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.58910821C>T, NC_000020.10:g.57485876C>T, NG_016194.2:g.76082C>T, NM_000516.7:c.1177C>T, NM_000516.6:c.1177C>T, NM_000516.5:c.1177C>T, NM_000516.4:c.1177C>T, NM_016592.5:c.*1083C>T, NM_016592.4:c.*1083C>T, NM_016592.3:c.*1083C>T, NM_016592.2:c.*1083C>T, NM_001077488.5:c.1180C>T, NM_001077488.4:c.1180C>T, NM_001077488.3:c.1180C>T, NM_001077488.2:c.1180C>T, NM_080425.4:c.3106C>T, NM_080425.3:c.3106C>T, NM_080425.2:c.3106C>T, NM_080426.4:c.1135C>T, NM_080426.3:c.1135C>T, NM_080426.2:c.1135C>T, NM_001077489.4:c.1132C>T, NM_001077489.3:c.1132C>T, NM_001077489.2:c.1132C>T, NM_001077490.3:c.*1038C>T, NM_001077490.2:c.*1038C>T, NM_001077490.1:c.*1038C>T, NM_001309861.2:c.1000C>T, NM_001309861.1:c.1000C>T, NM_001309840.2:c.1000C>T, NM_001309840.1:c.1000C>T, XM_017027812.3:c.3109C>T, XM_017027812.2:c.3109C>T, XM_017027812.1:c.3109C>T, XM_017027813.3:c.3064C>T, XM_017027813.2:c.3064C>T, XM_017027813.1:c.3064C>T, XM_017027814.3:c.3061C>T, XM_017027818.3:c.955C>T, XM_017027818.2:c.955C>T, XM_017027818.1:c.955C>T, XM_024451872.2:c.1081C>T, XM_017027815.2:c.1036C>T, XM_017027815.1:c.1036C>T, XM_024451875.2:c.1000C>T, XM_024451875.1:c.1000C>T, XM_017027817.2:c.955C>T, XM_017027817.1:c.955C>T, XM_017027819.2:c.955C>T, XM_017027819.1:c.955C>T, XM_024451873.2:c.1000C>T, XM_024451873.1:c.1000C>T, NM_001410913.1:c.3061C>T, XM_047440113.1:c.1084C>T, NM_001410912.1:c.1081C>T, XM_047440116.1:c.1003C>T, XM_047440121.1:c.955C>T, XM_047440123.1:c.955C>T, XM_047440114.1:c.1003C>T, NR_003259.1:n.1267C>T, XM_047440122.1:c.955C>T, XM_047440125.1:c.1003C>T, XM_047440117.1:c.1003C>T, XM_047440118.1:c.958C>T, XM_047440120.1:c.958C>T, XM_047440115.1:c.1003C>T, XM_017027820.1:c.955C>T, XM_047440124.1:c.955C>T, XM_047440119.1:c.958C>T

Select item 14393019646.

rs1439301964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58903761 (GRCh38)
20:57478816 (GRCh37)
Canonical SPDI:: NC_000020.11:58903760:G:A
Gene:: GNAS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58903761G>A, NC_000020.10:g.57478816G>A, NG_016194.2:g.69022G>A, NM_000516.7:c.402G>A, NM_000516.6:c.402G>A, NM_000516.5:c.402G>A, NM_000516.4:c.402G>A, NM_016592.5:c.*308G>A, NM_016592.4:c.*308G>A, NM_016592.3:c.*308G>A, NM_016592.2:c.*308G>A, NM_001077488.5:c.405G>A, NM_001077488.4:c.405G>A, NM_001077488.3:c.405G>A, NM_001077488.2:c.405G>A, NM_080425.4:c.2331G>A, NM_080425.3:c.2331G>A, NM_080425.2:c.2331G>A, NM_080426.4:c.360G>A, NM_080426.3:c.360G>A, NM_080426.2:c.360G>A, NM_001077489.4:c.357G>A, NM_001077489.3:c.357G>A, NM_001077489.2:c.357G>A, NM_001077490.3:c.*263G>A, NM_001077490.2:c.*263G>A, NM_001077490.1:c.*263G>A, NM_001309861.2:c.225G>A, NM_001309861.1:c.225G>A, NM_001309840.2:c.225G>A, NM_001309840.1:c.225G>A, XM_017027812.3:c.2334G>A, XM_017027812.2:c.2334G>A, XM_017027812.1:c.2334G>A, XM_017027813.3:c.2289G>A, XM_017027813.2:c.2289G>A, XM_017027813.1:c.2289G>A, XM_017027814.3:c.2286G>A, XM_017027818.3:c.180G>A, XM_017027818.2:c.180G>A, XM_017027818.1:c.180G>A, XM_024451872.2:c.306G>A, XM_017027815.2:c.261G>A, XM_017027815.1:c.261G>A, XM_024451875.2:c.225G>A, XM_024451875.1:c.225G>A, XM_017027817.2:c.180G>A, XM_017027817.1:c.180G>A, XM_017027819.2:c.180G>A, XM_017027819.1:c.180G>A, XM_024451873.2:c.225G>A, XM_024451873.1:c.225G>A, NM_001410913.1:c.2286G>A, XM_047440113.1:c.309G>A, NM_001410912.1:c.306G>A, XM_047440116.1:c.228G>A, XM_047440121.1:c.180G>A, XM_047440123.1:c.180G>A, XM_047440114.1:c.228G>A, NR_003259.1:n.492G>A, XM_047440122.1:c.180G>A, XM_047440125.1:c.228G>A, XM_047440117.1:c.228G>A, XM_047440118.1:c.183G>A, XM_047440120.1:c.183G>A, XM_047440115.1:c.228G>A, XM_017027820.1:c.180G>A, XM_047440124.1:c.180G>A, XM_047440119.1:c.183G>A

Select item 14309001967.

rs1430900196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:58909411 (GRCh38)
20:57484466 (GRCh37)
Canonical SPDI:: NC_000020.11:58909410:A:G,NC_000020.11:58909410:A:T
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.58909411A>G, NC_000020.11:g.58909411A>T, NC_000020.10:g.57484466A>G, NC_000020.10:g.57484466A>T, NG_016194.2:g.74672A>G, NG_016194.2:g.74672A>T, NM_000516.7:c.647A>G, NM_000516.7:c.647A>T, NM_000516.6:c.647A>G, NM_000516.6:c.647A>T, NM_000516.5:c.647A>G, NM_000516.5:c.647A>T, NM_000516.4:c.647A>G, NM_000516.4:c.647A>T, NM_016592.5:c.*553A>G, NM_016592.5:c.*553A>T, NM_016592.4:c.*553A>G, NM_016592.4:c.*553A>T, NM_016592.3:c.*553A>G, NM_016592.3:c.*553A>T, NM_016592.2:c.*553A>G, NM_016592.2:c.*553A>T, NM_001077488.5:c.650A>G, NM_001077488.5:c.650A>T, NM_001077488.4:c.650A>G, NM_001077488.4:c.650A>T, NM_001077488.3:c.650A>G, NM_001077488.3:c.650A>T, NM_001077488.2:c.650A>G, NM_001077488.2:c.650A>T, NM_080425.4:c.2576A>G, NM_080425.4:c.2576A>T, NM_080425.3:c.2576A>G, NM_080425.3:c.2576A>T, NM_080425.2:c.2576A>G, NM_080425.2:c.2576A>T, NM_080426.4:c.605A>G, NM_080426.4:c.605A>T, NM_080426.3:c.605A>G, NM_080426.3:c.605A>T, NM_080426.2:c.605A>G, NM_080426.2:c.605A>T, NM_001077489.4:c.602A>G, NM_001077489.4:c.602A>T, NM_001077489.3:c.602A>G, NM_001077489.3:c.602A>T, NM_001077489.2:c.602A>G, NM_001077489.2:c.602A>T, NM_001077490.3:c.*508A>G, NM_001077490.3:c.*508A>T, NM_001077490.2:c.*508A>G, NM_001077490.2:c.*508A>T, NM_001077490.1:c.*508A>G, NM_001077490.1:c.*508A>T, NM_001309861.2:c.470A>G, NM_001309861.2:c.470A>T, NM_001309861.1:c.470A>G, NM_001309861.1:c.470A>T, NM_001309840.2:c.470A>G, NM_001309840.2:c.470A>T, NM_001309840.1:c.470A>G, NM_001309840.1:c.470A>T, XM_017027812.3:c.2579A>G, XM_017027812.3:c.2579A>T, XM_017027812.2:c.2579A>G, XM_017027812.2:c.2579A>T, XM_017027812.1:c.2579A>G, XM_017027812.1:c.2579A>T, XM_017027813.3:c.2534A>G, XM_017027813.3:c.2534A>T, XM_017027813.2:c.2534A>G, XM_017027813.2:c.2534A>T, XM_017027813.1:c.2534A>G, XM_017027813.1:c.2534A>T, XM_017027814.3:c.2531A>G, XM_017027814.3:c.2531A>T, XM_017027818.3:c.425A>G, XM_017027818.3:c.425A>T, XM_017027818.2:c.425A>G, XM_017027818.2:c.425A>T, XM_017027818.1:c.425A>G, XM_017027818.1:c.425A>T, XM_024451872.2:c.551A>G, XM_024451872.2:c.551A>T, XM_017027815.2:c.506A>G, XM_017027815.2:c.506A>T, XM_017027815.1:c.506A>G, XM_017027815.1:c.506A>T, XM_024451875.2:c.470A>G, XM_024451875.2:c.470A>T, XM_024451875.1:c.470A>G, XM_024451875.1:c.470A>T, XM_017027817.2:c.425A>G, XM_017027817.2:c.425A>T, XM_017027817.1:c.425A>G, XM_017027817.1:c.425A>T, XM_017027819.2:c.425A>G, XM_017027819.2:c.425A>T, XM_017027819.1:c.425A>G, XM_017027819.1:c.425A>T, XM_024451873.2:c.470A>G, XM_024451873.2:c.470A>T, XM_024451873.1:c.470A>G, XM_024451873.1:c.470A>T, NM_001410913.1:c.2531A>G, NM_001410913.1:c.2531A>T, XM_047440113.1:c.554A>G, XM_047440113.1:c.554A>T, NM_001410912.1:c.551A>G, NM_001410912.1:c.551A>T, XM_047440116.1:c.473A>G, XM_047440116.1:c.473A>T, XM_047440121.1:c.425A>G, XM_047440121.1:c.425A>T, XM_047440123.1:c.425A>G, XM_047440123.1:c.425A>T, XM_047440114.1:c.473A>G, XM_047440114.1:c.473A>T, NR_003259.1:n.737A>G, NR_003259.1:n.737A>T, XM_047440122.1:c.425A>G, XM_047440122.1:c.425A>T, XM_047440125.1:c.473A>G, XM_047440125.1:c.473A>T, XM_047440117.1:c.473A>G, XM_047440117.1:c.473A>T, XM_047440118.1:c.428A>G, XM_047440118.1:c.428A>T, XM_047440120.1:c.428A>G, XM_047440120.1:c.428A>T, XM_047440115.1:c.473A>G, XM_047440115.1:c.473A>T, XM_017027820.1:c.425A>G, XM_017027820.1:c.425A>T, XM_047440124.1:c.425A>G, XM_047440124.1:c.425A>T, XM_047440119.1:c.428A>G, XM_047440119.1:c.428A>T, NP_000507.1:p.Lys216Arg, NP_000507.1:p.Lys216Ile, NP_001070956.1:p.Lys217Arg, NP_001070956.1:p.Lys217Ile, NP_536350.2:p.Lys859Arg, NP_536350.2:p.Lys859Ile, NP_536351.1:p.Lys202Arg, NP_536351.1:p.Lys202Ile, NP_001070957.1:p.Lys201Arg, NP_001070957.1:p.Lys201Ile, NP_001296790.1:p.Lys157Arg, NP_001296790.1:p.Lys157Ile, NP_001296769.1:p.Lys157Arg, NP_001296769.1:p.Lys157Ile, XP_016883301.1:p.Lys860Arg, XP_016883301.1:p.Lys860Ile, XP_016883302.1:p.Lys845Arg, XP_016883302.1:p.Lys845Ile, XP_016883303.1:p.Lys844Arg, XP_016883303.1:p.Lys844Ile, XP_016883307.1:p.Lys142Arg, XP_016883307.1:p.Lys142Ile, XP_024307640.1:p.Lys184Arg, XP_024307640.1:p.Lys184Ile, XP_016883304.1:p.Lys169Arg, XP_016883304.1:p.Lys169Ile, XP_024307643.1:p.Lys157Arg, XP_024307643.1:p.Lys157Ile, XP_016883306.1:p.Lys142Arg, XP_016883306.1:p.Lys142Ile, XP_016883308.1:p.Lys142Arg, XP_016883308.1:p.Lys142Ile, XP_024307641.1:p.Lys157Arg, XP_024307641.1:p.Lys157Ile, XP_047296069.1:p.Lys185Arg, XP_047296069.1:p.Lys185Ile, XP_047296072.1:p.Lys158Arg, XP_047296072.1:p.Lys158Ile, XP_047296077.1:p.Lys142Arg, XP_047296077.1:p.Lys142Ile, XP_047296079.1:p.Lys142Arg, XP_047296079.1:p.Lys142Ile, XP_047296070.1:p.Lys158Arg, XP_047296070.1:p.Lys158Ile, XP_047296078.1:p.Lys142Arg, XP_047296078.1:p.Lys142Ile, XP_047296081.1:p.Lys158Arg, XP_047296081.1:p.Lys158Ile, XP_047296073.1:p.Lys158Arg, XP_047296073.1:p.Lys158Ile, XP_047296074.1:p.Lys143Arg, XP_047296074.1:p.Lys143Ile, XP_047296076.1:p.Lys143Arg, XP_047296076.1:p.Lys143Ile, XP_047296071.1:p.Lys158Arg, XP_047296071.1:p.Lys158Ile, XP_016883309.1:p.Lys142Arg, XP_016883309.1:p.Lys142Ile, XP_047296080.1:p.Lys142Arg, XP_047296080.1:p.Lys142Ile, XP_047296075.1:p.Lys143Arg, XP_047296075.1:p.Lys143Ile

Select item 14280633448.

rs1428063344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:58910733 (GRCh38)
20:57485788 (GRCh37)
Canonical SPDI:: NC_000020.11:58910732:C:A,NC_000020.11:58910732:C:T
Gene:: GNAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.001027/3 (KOREAN)
HGVS:: NC_000020.11:g.58910733C>A, NC_000020.11:g.58910733C>T, NC_000020.10:g.57485788C>A, NC_000020.10:g.57485788C>T, NG_016194.2:g.75994C>A, NG_016194.2:g.75994C>T, NM_000516.7:c.1089C>A, NM_000516.7:c.1089C>T, NM_000516.6:c.1089C>A, NM_000516.6:c.1089C>T, NM_000516.5:c.1089C>A, NM_000516.5:c.1089C>T, NM_000516.4:c.1089C>A, NM_000516.4:c.1089C>T, NM_016592.5:c.*995C>A, NM_016592.5:c.*995C>T, NM_016592.4:c.*995C>A, NM_016592.4:c.*995C>T, NM_016592.3:c.*995C>A, NM_016592.3:c.*995C>T, NM_016592.2:c.*995C>A, NM_016592.2:c.*995C>T, NM_001077488.5:c.1092C>A, NM_001077488.5:c.1092C>T, NM_001077488.4:c.1092C>A, NM_001077488.4:c.1092C>T, NM_001077488.3:c.1092C>A, NM_001077488.3:c.1092C>T, NM_001077488.2:c.1092C>A, NM_001077488.2:c.1092C>T, NM_080425.4:c.3018C>A, NM_080425.4:c.3018C>T, NM_080425.3:c.3018C>A, NM_080425.3:c.3018C>T, NM_080425.2:c.3018C>A, NM_080425.2:c.3018C>T, NM_080426.4:c.1047C>A, NM_080426.4:c.1047C>T, NM_080426.3:c.1047C>A, NM_080426.3:c.1047C>T, NM_080426.2:c.1047C>A, NM_080426.2:c.1047C>T, NM_001077489.4:c.1044C>A, NM_001077489.4:c.1044C>T, NM_001077489.3:c.1044C>A, NM_001077489.3:c.1044C>T, NM_001077489.2:c.1044C>A, NM_001077489.2:c.1044C>T, NM_001077490.3:c.*950C>A, NM_001077490.3:c.*950C>T, NM_001077490.2:c.*950C>A, NM_001077490.2:c.*950C>T, NM_001077490.1:c.*950C>A, NM_001077490.1:c.*950C>T, NM_001309861.2:c.912C>A, NM_001309861.2:c.912C>T, NM_001309861.1:c.912C>A, NM_001309861.1:c.912C>T, NM_001309840.2:c.912C>A, NM_001309840.2:c.912C>T, NM_001309840.1:c.912C>A, NM_001309840.1:c.912C>T, XM_017027812.3:c.3021C>A, XM_017027812.3:c.3021C>T, XM_017027812.2:c.3021C>A, XM_017027812.2:c.3021C>T, XM_017027812.1:c.3021C>A, XM_017027812.1:c.3021C>T, XM_017027813.3:c.2976C>A, XM_017027813.3:c.2976C>T, XM_017027813.2:c.2976C>A, XM_017027813.2:c.2976C>T, XM_017027813.1:c.2976C>A, XM_017027813.1:c.2976C>T, XM_017027814.3:c.2973C>A, XM_017027814.3:c.2973C>T, XM_017027818.3:c.867C>A, XM_017027818.3:c.867C>T, XM_017027818.2:c.867C>A, XM_017027818.2:c.867C>T, XM_017027818.1:c.867C>A, XM_017027818.1:c.867C>T, XM_024451872.2:c.993C>A, XM_024451872.2:c.993C>T, XM_017027815.2:c.948C>A, XM_017027815.2:c.948C>T, XM_017027815.1:c.948C>A, XM_017027815.1:c.948C>T, XM_024451875.2:c.912C>A, XM_024451875.2:c.912C>T, XM_024451875.1:c.912C>A, XM_024451875.1:c.912C>T, XM_017027817.2:c.867C>A, XM_017027817.2:c.867C>T, XM_017027817.1:c.867C>A, XM_017027817.1:c.867C>T, XM_017027819.2:c.867C>A, XM_017027819.2:c.867C>T, XM_017027819.1:c.867C>A, XM_017027819.1:c.867C>T, XM_024451873.2:c.912C>A, XM_024451873.2:c.912C>T, XM_024451873.1:c.912C>A, XM_024451873.1:c.912C>T, NM_001410913.1:c.2973C>A, NM_001410913.1:c.2973C>T, XM_047440113.1:c.996C>A, XM_047440113.1:c.996C>T, NM_001410912.1:c.993C>A, NM_001410912.1:c.993C>T, XM_047440116.1:c.915C>A, XM_047440116.1:c.915C>T, XM_047440121.1:c.867C>A, XM_047440121.1:c.867C>T, XM_047440123.1:c.867C>A, XM_047440123.1:c.867C>T, XM_047440114.1:c.915C>A, XM_047440114.1:c.915C>T, NR_003259.1:n.1179C>A, NR_003259.1:n.1179C>T, XM_047440122.1:c.867C>A, XM_047440122.1:c.867C>T, XM_047440125.1:c.915C>A, XM_047440125.1:c.915C>T, XM_047440117.1:c.915C>A, XM_047440117.1:c.915C>T, XM_047440118.1:c.870C>A, XM_047440118.1:c.870C>T, XM_047440120.1:c.870C>A, XM_047440120.1:c.870C>T, XM_047440115.1:c.915C>A, XM_047440115.1:c.915C>T, XM_017027820.1:c.867C>A, XM_017027820.1:c.867C>T, XM_047440124.1:c.867C>A, XM_047440124.1:c.867C>T, XM_047440119.1:c.870C>A, XM_047440119.1:c.870C>T, NP_000507.1:p.Phe363Leu, NP_001070956.1:p.Phe364Leu, NP_536350.2:p.Phe1006Leu, NP_536351.1:p.Phe349Leu, NP_001070957.1:p.Phe348Leu, NP_001296790.1:p.Phe304Leu, NP_001296769.1:p.Phe304Leu, XP_016883301.1:p.Phe1007Leu, XP_016883302.1:p.Phe992Leu, XP_016883303.1:p.Phe991Leu, XP_016883307.1:p.Phe289Leu, XP_024307640.1:p.Phe331Leu, XP_016883304.1:p.Phe316Leu, XP_024307643.1:p.Phe304Leu, XP_016883306.1:p.Phe289Leu, XP_016883308.1:p.Phe289Leu, XP_024307641.1:p.Phe304Leu, XP_047296069.1:p.Phe332Leu, XP_047296072.1:p.Phe305Leu, XP_047296077.1:p.Phe289Leu, XP_047296079.1:p.Phe289Leu, XP_047296070.1:p.Phe305Leu, XP_047296078.1:p.Phe289Leu, XP_047296081.1:p.Phe305Leu, XP_047296073.1:p.Phe305Leu, XP_047296074.1:p.Phe290Leu, XP_047296076.1:p.Phe290Leu, XP_047296071.1:p.Phe305Leu, XP_016883309.1:p.Phe289Leu, XP_047296080.1:p.Phe289Leu, XP_047296075.1:p.Phe290Leu

Select item 14241288039.

rs1424128803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58910695 (GRCh38)
20:57485750 (GRCh37)
Canonical SPDI:: NC_000020.11:58910694:G:A
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58910695G>A, NC_000020.10:g.57485750G>A, NG_016194.2:g.75956G>A, NM_000516.7:c.1051G>A, NM_000516.6:c.1051G>A, NM_000516.5:c.1051G>A, NM_000516.4:c.1051G>A, NM_016592.5:c.*957G>A, NM_016592.4:c.*957G>A, NM_016592.3:c.*957G>A, NM_016592.2:c.*957G>A, NM_001077488.5:c.1054G>A, NM_001077488.4:c.1054G>A, NM_001077488.3:c.1054G>A, NM_001077488.2:c.1054G>A, NM_080425.4:c.2980G>A, NM_080425.3:c.2980G>A, NM_080425.2:c.2980G>A, NM_080426.4:c.1009G>A, NM_080426.3:c.1009G>A, NM_080426.2:c.1009G>A, NM_001077489.4:c.1006G>A, NM_001077489.3:c.1006G>A, NM_001077489.2:c.1006G>A, NM_001077490.3:c.*912G>A, NM_001077490.2:c.*912G>A, NM_001077490.1:c.*912G>A, NM_001309861.2:c.874G>A, NM_001309861.1:c.874G>A, NM_001309840.2:c.874G>A, NM_001309840.1:c.874G>A, XM_017027812.3:c.2983G>A, XM_017027812.2:c.2983G>A, XM_017027812.1:c.2983G>A, XM_017027813.3:c.2938G>A, XM_017027813.2:c.2938G>A, XM_017027813.1:c.2938G>A, XM_017027814.3:c.2935G>A, XM_017027818.3:c.829G>A, XM_017027818.2:c.829G>A, XM_017027818.1:c.829G>A, XM_024451872.2:c.955G>A, XM_017027815.2:c.910G>A, XM_017027815.1:c.910G>A, XM_024451875.2:c.874G>A, XM_024451875.1:c.874G>A, XM_017027817.2:c.829G>A, XM_017027817.1:c.829G>A, XM_017027819.2:c.829G>A, XM_017027819.1:c.829G>A, XM_024451873.2:c.874G>A, XM_024451873.1:c.874G>A, NM_001410913.1:c.2935G>A, XM_047440113.1:c.958G>A, NM_001410912.1:c.955G>A, XM_047440116.1:c.877G>A, XM_047440121.1:c.829G>A, XM_047440123.1:c.829G>A, XM_047440114.1:c.877G>A, NR_003259.1:n.1141G>A, XM_047440122.1:c.829G>A, XM_047440125.1:c.877G>A, XM_047440117.1:c.877G>A, XM_047440118.1:c.832G>A, XM_047440120.1:c.832G>A, XM_047440115.1:c.877G>A, XM_017027820.1:c.829G>A, XM_047440124.1:c.829G>A, XM_047440119.1:c.832G>A, NP_000507.1:p.Ala351Thr, NP_001070956.1:p.Ala352Thr, NP_536350.2:p.Ala994Thr, NP_536351.1:p.Ala337Thr, NP_001070957.1:p.Ala336Thr, NP_001296790.1:p.Ala292Thr, NP_001296769.1:p.Ala292Thr, XP_016883301.1:p.Ala995Thr, XP_016883302.1:p.Ala980Thr, XP_016883303.1:p.Ala979Thr, XP_016883307.1:p.Ala277Thr, XP_024307640.1:p.Ala319Thr, XP_016883304.1:p.Ala304Thr, XP_024307643.1:p.Ala292Thr, XP_016883306.1:p.Ala277Thr, XP_016883308.1:p.Ala277Thr, XP_024307641.1:p.Ala292Thr, XP_047296069.1:p.Ala320Thr, XP_047296072.1:p.Ala293Thr, XP_047296077.1:p.Ala277Thr, XP_047296079.1:p.Ala277Thr, XP_047296070.1:p.Ala293Thr, XP_047296078.1:p.Ala277Thr, XP_047296081.1:p.Ala293Thr, XP_047296073.1:p.Ala293Thr, XP_047296074.1:p.Ala278Thr, XP_047296076.1:p.Ala278Thr, XP_047296071.1:p.Ala293Thr, XP_016883309.1:p.Ala277Thr, XP_047296080.1:p.Ala277Thr, XP_047296075.1:p.Ala278Thr

Select item 142280107610.

rs1422801076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:58905440 (GRCh38)
20:57480495 (GRCh37)
Canonical SPDI:: NC_000020.11:58905439:G:A,NC_000020.11:58905439:G:C,NC_000020.11:58905439:G:T
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.58905440G>A, NC_000020.11:g.58905440G>C, NC_000020.11:g.58905440G>T, NC_000020.10:g.57480495G>A, NC_000020.10:g.57480495G>C, NC_000020.10:g.57480495G>T, NG_016194.2:g.70701G>A, NG_016194.2:g.70701G>C, NG_016194.2:g.70701G>T, NM_000516.7:c.490G>A, NM_000516.7:c.490G>C, NM_000516.7:c.490G>T, NM_000516.6:c.490G>A, NM_000516.6:c.490G>C, NM_000516.6:c.490G>T, NM_000516.5:c.490G>A, NM_000516.5:c.490G>C, NM_000516.5:c.490G>T, NM_000516.4:c.490G>A, NM_000516.4:c.490G>C, NM_000516.4:c.490G>T, NM_016592.5:c.*396G>A, NM_016592.5:c.*396G>C, NM_016592.5:c.*396G>T, NM_016592.4:c.*396G>A, NM_016592.4:c.*396G>C, NM_016592.4:c.*396G>T, NM_016592.3:c.*396G>A, NM_016592.3:c.*396G>C, NM_016592.3:c.*396G>T, NM_016592.2:c.*396G>A, NM_016592.2:c.*396G>C, NM_016592.2:c.*396G>T, NM_001077488.5:c.493G>A, NM_001077488.5:c.493G>C, NM_001077488.5:c.493G>T, NM_001077488.4:c.493G>A, NM_001077488.4:c.493G>C, NM_001077488.4:c.493G>T, NM_001077488.3:c.493G>A, NM_001077488.3:c.493G>C, NM_001077488.3:c.493G>T, NM_001077488.2:c.493G>A, NM_001077488.2:c.493G>C, NM_001077488.2:c.493G>T, NM_080425.4:c.2419G>A, NM_080425.4:c.2419G>C, NM_080425.4:c.2419G>T, NM_080425.3:c.2419G>A, NM_080425.3:c.2419G>C, NM_080425.3:c.2419G>T, NM_080425.2:c.2419G>A, NM_080425.2:c.2419G>C, NM_080425.2:c.2419G>T, NM_080426.4:c.448G>A, NM_080426.4:c.448G>C, NM_080426.4:c.448G>T, NM_080426.3:c.448G>A, NM_080426.3:c.448G>C, NM_080426.3:c.448G>T, NM_080426.2:c.448G>A, NM_080426.2:c.448G>C, NM_080426.2:c.448G>T, NM_001077489.4:c.445G>A, NM_001077489.4:c.445G>C, NM_001077489.4:c.445G>T, NM_001077489.3:c.445G>A, NM_001077489.3:c.445G>C, NM_001077489.3:c.445G>T, NM_001077489.2:c.445G>A, NM_001077489.2:c.445G>C, NM_001077489.2:c.445G>T, NM_001077490.3:c.*351G>A, NM_001077490.3:c.*351G>C, NM_001077490.3:c.*351G>T, NM_001077490.2:c.*351G>A, NM_001077490.2:c.*351G>C, NM_001077490.2:c.*351G>T, NM_001077490.1:c.*351G>A, NM_001077490.1:c.*351G>C, NM_001077490.1:c.*351G>T, NM_001309861.2:c.313G>A, NM_001309861.2:c.313G>C, NM_001309861.2:c.313G>T, NM_001309861.1:c.313G>A, NM_001309861.1:c.313G>C, NM_001309861.1:c.313G>T, NM_001309840.2:c.313G>A, NM_001309840.2:c.313G>C, NM_001309840.2:c.313G>T, NM_001309840.1:c.313G>A, NM_001309840.1:c.313G>C, NM_001309840.1:c.313G>T, XM_017027812.3:c.2422G>A, XM_017027812.3:c.2422G>C, XM_017027812.3:c.2422G>T, XM_017027812.2:c.2422G>A, XM_017027812.2:c.2422G>C, XM_017027812.2:c.2422G>T, XM_017027812.1:c.2422G>A, XM_017027812.1:c.2422G>C, XM_017027812.1:c.2422G>T, XM_017027813.3:c.2377G>A, XM_017027813.3:c.2377G>C, XM_017027813.3:c.2377G>T, XM_017027813.2:c.2377G>A, XM_017027813.2:c.2377G>C, XM_017027813.2:c.2377G>T, XM_017027813.1:c.2377G>A, XM_017027813.1:c.2377G>C, XM_017027813.1:c.2377G>T, XM_017027814.3:c.2374G>A, XM_017027814.3:c.2374G>C, XM_017027814.3:c.2374G>T, XM_017027818.3:c.268G>A, XM_017027818.3:c.268G>C, XM_017027818.3:c.268G>T, XM_017027818.2:c.268G>A, XM_017027818.2:c.268G>C, XM_017027818.2:c.268G>T, XM_017027818.1:c.268G>A, XM_017027818.1:c.268G>C, XM_017027818.1:c.268G>T, XM_024451872.2:c.394G>A, XM_024451872.2:c.394G>C, XM_024451872.2:c.394G>T, XM_017027815.2:c.349G>A, XM_017027815.2:c.349G>C, XM_017027815.2:c.349G>T, XM_017027815.1:c.349G>A, XM_017027815.1:c.349G>C, XM_017027815.1:c.349G>T, XM_024451875.2:c.313G>A, XM_024451875.2:c.313G>C, XM_024451875.2:c.313G>T, XM_024451875.1:c.313G>A, XM_024451875.1:c.313G>C, XM_024451875.1:c.313G>T, XM_017027817.2:c.268G>A, XM_017027817.2:c.268G>C, XM_017027817.2:c.268G>T, XM_017027817.1:c.268G>A, XM_017027817.1:c.268G>C, XM_017027817.1:c.268G>T, XM_017027819.2:c.268G>A, XM_017027819.2:c.268G>C, XM_017027819.2:c.268G>T, XM_017027819.1:c.268G>A, XM_017027819.1:c.268G>C, XM_017027819.1:c.268G>T, XM_024451873.2:c.313G>A, XM_024451873.2:c.313G>C, XM_024451873.2:c.313G>T, XM_024451873.1:c.313G>A, XM_024451873.1:c.313G>C, XM_024451873.1:c.313G>T, NM_001410913.1:c.2374G>A, NM_001410913.1:c.2374G>C, NM_001410913.1:c.2374G>T, XM_047440113.1:c.397G>A, XM_047440113.1:c.397G>C, XM_047440113.1:c.397G>T, NM_001410912.1:c.394G>A, NM_001410912.1:c.394G>C, NM_001410912.1:c.394G>T, XM_047440116.1:c.316G>A, XM_047440116.1:c.316G>C, XM_047440116.1:c.316G>T, XM_047440121.1:c.268G>A, XM_047440121.1:c.268G>C, XM_047440121.1:c.268G>T, XM_047440123.1:c.268G>A, XM_047440123.1:c.268G>C, XM_047440123.1:c.268G>T, XM_047440114.1:c.316G>A, XM_047440114.1:c.316G>C, XM_047440114.1:c.316G>T, NR_003259.1:n.580G>A, NR_003259.1:n.580G>C, NR_003259.1:n.580G>T, XM_047440122.1:c.268G>A, XM_047440122.1:c.268G>C, XM_047440122.1:c.268G>T, XM_047440125.1:c.316G>A, XM_047440125.1:c.316G>C, XM_047440125.1:c.316G>T, XM_047440117.1:c.316G>A, XM_047440117.1:c.316G>C, XM_047440117.1:c.316G>T, XM_047440118.1:c.271G>A, XM_047440118.1:c.271G>C, XM_047440118.1:c.271G>T, XM_047440120.1:c.271G>A, XM_047440120.1:c.271G>C, XM_047440120.1:c.271G>T, XM_047440115.1:c.316G>A, XM_047440115.1:c.316G>C, XM_047440115.1:c.316G>T, XM_017027820.1:c.268G>A, XM_017027820.1:c.268G>C, XM_017027820.1:c.268G>T, XM_047440124.1:c.268G>A, XM_047440124.1:c.268G>C, XM_047440124.1:c.268G>T, XM_047440119.1:c.271G>A, XM_047440119.1:c.271G>C, XM_047440119.1:c.271G>T, NP_000507.1:p.Glu164Lys, NP_000507.1:p.Glu164Gln, NP_000507.1:p.Glu164Ter, NP_001070956.1:p.Glu165Lys, NP_001070956.1:p.Glu165Gln, NP_001070956.1:p.Glu165Ter, NP_536350.2:p.Glu807Lys, NP_536350.2:p.Glu807Gln, NP_536350.2:p.Glu807Ter, NP_536351.1:p.Glu150Lys, NP_536351.1:p.Glu150Gln, NP_536351.1:p.Glu150Ter, NP_001070957.1:p.Glu149Lys, NP_001070957.1:p.Glu149Gln, NP_001070957.1:p.Glu149Ter, NP_001296790.1:p.Glu105Lys, NP_001296790.1:p.Glu105Gln, NP_001296790.1:p.Glu105Ter, NP_001296769.1:p.Glu105Lys, NP_001296769.1:p.Glu105Gln, NP_001296769.1:p.Glu105Ter, XP_016883301.1:p.Glu808Lys, XP_016883301.1:p.Glu808Gln, XP_016883301.1:p.Glu808Ter, XP_016883302.1:p.Glu793Lys, XP_016883302.1:p.Glu793Gln, XP_016883302.1:p.Glu793Ter, XP_016883303.1:p.Glu792Lys, XP_016883303.1:p.Glu792Gln, XP_016883303.1:p.Glu792Ter, XP_016883307.1:p.Glu90Lys, XP_016883307.1:p.Glu90Gln, XP_016883307.1:p.Glu90Ter, XP_024307640.1:p.Glu132Lys, XP_024307640.1:p.Glu132Gln, XP_024307640.1:p.Glu132Ter, XP_016883304.1:p.Glu117Lys, XP_016883304.1:p.Glu117Gln, XP_016883304.1:p.Glu117Ter, XP_024307643.1:p.Glu105Lys, XP_024307643.1:p.Glu105Gln, XP_024307643.1:p.Glu105Ter, XP_016883306.1:p.Glu90Lys, XP_016883306.1:p.Glu90Gln, XP_016883306.1:p.Glu90Ter, XP_016883308.1:p.Glu90Lys, XP_016883308.1:p.Glu90Gln, XP_016883308.1:p.Glu90Ter, XP_024307641.1:p.Glu105Lys, XP_024307641.1:p.Glu105Gln, XP_024307641.1:p.Glu105Ter, XP_047296069.1:p.Glu133Lys, XP_047296069.1:p.Glu133Gln, XP_047296069.1:p.Glu133Ter, XP_047296072.1:p.Glu106Lys, XP_047296072.1:p.Glu106Gln, XP_047296072.1:p.Glu106Ter, XP_047296077.1:p.Glu90Lys, XP_047296077.1:p.Glu90Gln, XP_047296077.1:p.Glu90Ter, XP_047296079.1:p.Glu90Lys, XP_047296079.1:p.Glu90Gln, XP_047296079.1:p.Glu90Ter, XP_047296070.1:p.Glu106Lys, XP_047296070.1:p.Glu106Gln, XP_047296070.1:p.Glu106Ter, XP_047296078.1:p.Glu90Lys, XP_047296078.1:p.Glu90Gln, XP_047296078.1:p.Glu90Ter, XP_047296081.1:p.Glu106Lys, XP_047296081.1:p.Glu106Gln, XP_047296081.1:p.Glu106Ter, XP_047296073.1:p.Glu106Lys, XP_047296073.1:p.Glu106Gln, XP_047296073.1:p.Glu106Ter, XP_047296074.1:p.Glu91Lys, XP_047296074.1:p.Glu91Gln, XP_047296074.1:p.Glu91Ter, XP_047296076.1:p.Glu91Lys, XP_047296076.1:p.Glu91Gln, XP_047296076.1:p.Glu91Ter, XP_047296071.1:p.Glu106Lys, XP_047296071.1:p.Glu106Gln, XP_047296071.1:p.Glu106Ter, XP_016883309.1:p.Glu90Lys, XP_016883309.1:p.Glu90Gln, XP_016883309.1:p.Glu90Ter, XP_047296080.1:p.Glu90Lys, XP_047296080.1:p.Glu90Gln, XP_047296080.1:p.Glu90Ter, XP_047296075.1:p.Glu91Lys, XP_047296075.1:p.Glu91Gln, XP_047296075.1:p.Glu91Ter

Select item 141887013711.

rs1418870137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:58910361 (GRCh38)
20:57485416 (GRCh37)
Canonical SPDI:: NC_000020.11:58910360:G:A,NC_000020.11:58910360:G:C
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58910361G>A, NC_000020.11:g.58910361G>C, NC_000020.10:g.57485416G>A, NC_000020.10:g.57485416G>C, NG_016194.2:g.75622G>A, NG_016194.2:g.75622G>C, NM_000516.7:c.998G>A, NM_000516.7:c.998G>C, NM_000516.6:c.998G>A, NM_000516.6:c.998G>C, NM_000516.5:c.998G>A, NM_000516.5:c.998G>C, NM_000516.4:c.998G>A, NM_000516.4:c.998G>C, NM_016592.5:c.*904G>A, NM_016592.5:c.*904G>C, NM_016592.4:c.*904G>A, NM_016592.4:c.*904G>C, NM_016592.3:c.*904G>A, NM_016592.3:c.*904G>C, NM_016592.2:c.*904G>A, NM_016592.2:c.*904G>C, NM_001077488.5:c.1001G>A, NM_001077488.5:c.1001G>C, NM_001077488.4:c.1001G>A, NM_001077488.4:c.1001G>C, NM_001077488.3:c.1001G>A, NM_001077488.3:c.1001G>C, NM_001077488.2:c.1001G>A, NM_001077488.2:c.1001G>C, NM_080425.4:c.2927G>A, NM_080425.4:c.2927G>C, NM_080425.3:c.2927G>A, NM_080425.3:c.2927G>C, NM_080425.2:c.2927G>A, NM_080425.2:c.2927G>C, NM_080426.4:c.956G>A, NM_080426.4:c.956G>C, NM_080426.3:c.956G>A, NM_080426.3:c.956G>C, NM_080426.2:c.956G>A, NM_080426.2:c.956G>C, NM_001077489.4:c.953G>A, NM_001077489.4:c.953G>C, NM_001077489.3:c.953G>A, NM_001077489.3:c.953G>C, NM_001077489.2:c.953G>A, NM_001077489.2:c.953G>C, NM_001077490.3:c.*859G>A, NM_001077490.3:c.*859G>C, NM_001077490.2:c.*859G>A, NM_001077490.2:c.*859G>C, NM_001077490.1:c.*859G>A, NM_001077490.1:c.*859G>C, NM_001309861.2:c.821G>A, NM_001309861.2:c.821G>C, NM_001309861.1:c.821G>A, NM_001309861.1:c.821G>C, NM_001309840.2:c.821G>A, NM_001309840.2:c.821G>C, NM_001309840.1:c.821G>A, NM_001309840.1:c.821G>C, XM_017027812.3:c.2930G>A, XM_017027812.3:c.2930G>C, XM_017027812.2:c.2930G>A, XM_017027812.2:c.2930G>C, XM_017027812.1:c.2930G>A, XM_017027812.1:c.2930G>C, XM_017027813.3:c.2885G>A, XM_017027813.3:c.2885G>C, XM_017027813.2:c.2885G>A, XM_017027813.2:c.2885G>C, XM_017027813.1:c.2885G>A, XM_017027813.1:c.2885G>C, XM_017027814.3:c.2882G>A, XM_017027814.3:c.2882G>C, XM_017027818.3:c.776G>A, XM_017027818.3:c.776G>C, XM_017027818.2:c.776G>A, XM_017027818.2:c.776G>C, XM_017027818.1:c.776G>A, XM_017027818.1:c.776G>C, XM_024451872.2:c.902G>A, XM_024451872.2:c.902G>C, XM_017027815.2:c.857G>A, XM_017027815.2:c.857G>C, XM_017027815.1:c.857G>A, XM_017027815.1:c.857G>C, XM_024451875.2:c.821G>A, XM_024451875.2:c.821G>C, XM_024451875.1:c.821G>A, XM_024451875.1:c.821G>C, XM_017027817.2:c.776G>A, XM_017027817.2:c.776G>C, XM_017027817.1:c.776G>A, XM_017027817.1:c.776G>C, XM_017027819.2:c.776G>A, XM_017027819.2:c.776G>C, XM_017027819.1:c.776G>A, XM_017027819.1:c.776G>C, XM_024451873.2:c.821G>A, XM_024451873.2:c.821G>C, XM_024451873.1:c.821G>A, XM_024451873.1:c.821G>C, NM_001410913.1:c.2882G>A, NM_001410913.1:c.2882G>C, XM_047440113.1:c.905G>A, XM_047440113.1:c.905G>C, NM_001410912.1:c.902G>A, NM_001410912.1:c.902G>C, XM_047440116.1:c.824G>A, XM_047440116.1:c.824G>C, XM_047440121.1:c.776G>A, XM_047440121.1:c.776G>C, XM_047440123.1:c.776G>A, XM_047440123.1:c.776G>C, XM_047440114.1:c.824G>A, XM_047440114.1:c.824G>C, NR_003259.1:n.1088G>A, NR_003259.1:n.1088G>C, XM_047440122.1:c.776G>A, XM_047440122.1:c.776G>C, XM_047440125.1:c.824G>A, XM_047440125.1:c.824G>C, XM_047440117.1:c.824G>A, XM_047440117.1:c.824G>C, XM_047440118.1:c.779G>A, XM_047440118.1:c.779G>C, XM_047440120.1:c.779G>A, XM_047440120.1:c.779G>C, XM_047440115.1:c.824G>A, XM_047440115.1:c.824G>C, XM_017027820.1:c.776G>A, XM_017027820.1:c.776G>C, XM_047440124.1:c.776G>A, XM_047440124.1:c.776G>C, XM_047440119.1:c.779G>A, XM_047440119.1:c.779G>C, NP_000507.1:p.Arg333His, NP_000507.1:p.Arg333Pro, NP_001070956.1:p.Arg334His, NP_001070956.1:p.Arg334Pro, NP_536350.2:p.Arg976His, NP_536350.2:p.Arg976Pro, NP_536351.1:p.Arg319His, NP_536351.1:p.Arg319Pro, NP_001070957.1:p.Arg318His, NP_001070957.1:p.Arg318Pro, NP_001296790.1:p.Arg274His, NP_001296790.1:p.Arg274Pro, NP_001296769.1:p.Arg274His, NP_001296769.1:p.Arg274Pro, XP_016883301.1:p.Arg977His, XP_016883301.1:p.Arg977Pro, XP_016883302.1:p.Arg962His, XP_016883302.1:p.Arg962Pro, XP_016883303.1:p.Arg961His, XP_016883303.1:p.Arg961Pro, XP_016883307.1:p.Arg259His, XP_016883307.1:p.Arg259Pro, XP_024307640.1:p.Arg301His, XP_024307640.1:p.Arg301Pro, XP_016883304.1:p.Arg286His, XP_016883304.1:p.Arg286Pro, XP_024307643.1:p.Arg274His, XP_024307643.1:p.Arg274Pro, XP_016883306.1:p.Arg259His, XP_016883306.1:p.Arg259Pro, XP_016883308.1:p.Arg259His, XP_016883308.1:p.Arg259Pro, XP_024307641.1:p.Arg274His, XP_024307641.1:p.Arg274Pro, XP_047296069.1:p.Arg302His, XP_047296069.1:p.Arg302Pro, XP_047296072.1:p.Arg275His, XP_047296072.1:p.Arg275Pro, XP_047296077.1:p.Arg259His, XP_047296077.1:p.Arg259Pro, XP_047296079.1:p.Arg259His, XP_047296079.1:p.Arg259Pro, XP_047296070.1:p.Arg275His, XP_047296070.1:p.Arg275Pro, XP_047296078.1:p.Arg259His, XP_047296078.1:p.Arg259Pro, XP_047296081.1:p.Arg275His, XP_047296081.1:p.Arg275Pro, XP_047296073.1:p.Arg275His, XP_047296073.1:p.Arg275Pro, XP_047296074.1:p.Arg260His, XP_047296074.1:p.Arg260Pro, XP_047296076.1:p.Arg260His, XP_047296076.1:p.Arg260Pro, XP_047296071.1:p.Arg275His, XP_047296071.1:p.Arg275Pro, XP_016883309.1:p.Arg259His, XP_016883309.1:p.Arg259Pro, XP_047296080.1:p.Arg259His, XP_047296080.1:p.Arg259Pro, XP_047296075.1:p.Arg260His, XP_047296075.1:p.Arg260Pro

Select item 141023509612.

rs1410235096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58910731 (GRCh38)
20:57485786 (GRCh37)
Canonical SPDI:: NC_000020.11:58910730:T:C
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58910731T>C, NC_000020.10:g.57485786T>C, NG_016194.2:g.75992T>C, NM_000516.7:c.1087T>C, NM_000516.6:c.1087T>C, NM_000516.5:c.1087T>C, NM_000516.4:c.1087T>C, NM_016592.5:c.*993T>C, NM_016592.4:c.*993T>C, NM_016592.3:c.*993T>C, NM_016592.2:c.*993T>C, NM_001077488.5:c.1090T>C, NM_001077488.4:c.1090T>C, NM_001077488.3:c.1090T>C, NM_001077488.2:c.1090T>C, NM_080425.4:c.3016T>C, NM_080425.3:c.3016T>C, NM_080425.2:c.3016T>C, NM_080426.4:c.1045T>C, NM_080426.3:c.1045T>C, NM_080426.2:c.1045T>C, NM_001077489.4:c.1042T>C, NM_001077489.3:c.1042T>C, NM_001077489.2:c.1042T>C, NM_001077490.3:c.*948T>C, NM_001077490.2:c.*948T>C, NM_001077490.1:c.*948T>C, NM_001309861.2:c.910T>C, NM_001309861.1:c.910T>C, NM_001309840.2:c.910T>C, NM_001309840.1:c.910T>C, XM_017027812.3:c.3019T>C, XM_017027812.2:c.3019T>C, XM_017027812.1:c.3019T>C, XM_017027813.3:c.2974T>C, XM_017027813.2:c.2974T>C, XM_017027813.1:c.2974T>C, XM_017027814.3:c.2971T>C, XM_017027818.3:c.865T>C, XM_017027818.2:c.865T>C, XM_017027818.1:c.865T>C, XM_024451872.2:c.991T>C, XM_017027815.2:c.946T>C, XM_017027815.1:c.946T>C, XM_024451875.2:c.910T>C, XM_024451875.1:c.910T>C, XM_017027817.2:c.865T>C, XM_017027817.1:c.865T>C, XM_017027819.2:c.865T>C, XM_017027819.1:c.865T>C, XM_024451873.2:c.910T>C, XM_024451873.1:c.910T>C, NM_001410913.1:c.2971T>C, XM_047440113.1:c.994T>C, NM_001410912.1:c.991T>C, XM_047440116.1:c.913T>C, XM_047440121.1:c.865T>C, XM_047440123.1:c.865T>C, XM_047440114.1:c.913T>C, NR_003259.1:n.1177T>C, XM_047440122.1:c.865T>C, XM_047440125.1:c.913T>C, XM_047440117.1:c.913T>C, XM_047440118.1:c.868T>C, XM_047440120.1:c.868T>C, XM_047440115.1:c.913T>C, XM_017027820.1:c.865T>C, XM_047440124.1:c.865T>C, XM_047440119.1:c.868T>C, NP_000507.1:p.Phe363Leu, NP_001070956.1:p.Phe364Leu, NP_536350.2:p.Phe1006Leu, NP_536351.1:p.Phe349Leu, NP_001070957.1:p.Phe348Leu, NP_001296790.1:p.Phe304Leu, NP_001296769.1:p.Phe304Leu, XP_016883301.1:p.Phe1007Leu, XP_016883302.1:p.Phe992Leu, XP_016883303.1:p.Phe991Leu, XP_016883307.1:p.Phe289Leu, XP_024307640.1:p.Phe331Leu, XP_016883304.1:p.Phe316Leu, XP_024307643.1:p.Phe304Leu, XP_016883306.1:p.Phe289Leu, XP_016883308.1:p.Phe289Leu, XP_024307641.1:p.Phe304Leu, XP_047296069.1:p.Phe332Leu, XP_047296072.1:p.Phe305Leu, XP_047296077.1:p.Phe289Leu, XP_047296079.1:p.Phe289Leu, XP_047296070.1:p.Phe305Leu, XP_047296078.1:p.Phe289Leu, XP_047296081.1:p.Phe305Leu, XP_047296073.1:p.Phe305Leu, XP_047296074.1:p.Phe290Leu, XP_047296076.1:p.Phe290Leu, XP_047296071.1:p.Phe305Leu, XP_016883309.1:p.Phe289Leu, XP_047296080.1:p.Phe289Leu, XP_047296075.1:p.Phe290Leu

Select item 140883563913.

rs1408835639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:58910023 (GRCh38)
20:57485078 (GRCh37)
Canonical SPDI:: NC_000020.11:58910022:G:C,NC_000020.11:58910022:G:T
Gene:: GNAS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58910023G>C, NC_000020.11:g.58910023G>T, NC_000020.10:g.57485078G>C, NC_000020.10:g.57485078G>T, NG_016194.2:g.75284G>C, NG_016194.2:g.75284G>T, NM_000516.7:c.912G>C, NM_000516.7:c.912G>T, NM_000516.6:c.912G>C, NM_000516.6:c.912G>T, NM_000516.5:c.912G>C, NM_000516.5:c.912G>T, NM_000516.4:c.912G>C, NM_000516.4:c.912G>T, NM_016592.5:c.*818G>C, NM_016592.5:c.*818G>T, NM_016592.4:c.*818G>C, NM_016592.4:c.*818G>T, NM_016592.3:c.*818G>C, NM_016592.3:c.*818G>T, NM_016592.2:c.*818G>C, NM_016592.2:c.*818G>T, NM_001077488.5:c.915G>C, NM_001077488.5:c.915G>T, NM_001077488.4:c.915G>C, NM_001077488.4:c.915G>T, NM_001077488.3:c.915G>C, NM_001077488.3:c.915G>T, NM_001077488.2:c.915G>C, NM_001077488.2:c.915G>T, NM_080425.4:c.2841G>C, NM_080425.4:c.2841G>T, NM_080425.3:c.2841G>C, NM_080425.3:c.2841G>T, NM_080425.2:c.2841G>C, NM_080425.2:c.2841G>T, NM_080426.4:c.870G>C, NM_080426.4:c.870G>T, NM_080426.3:c.870G>C, NM_080426.3:c.870G>T, NM_080426.2:c.870G>C, NM_080426.2:c.870G>T, NM_001077489.4:c.867G>C, NM_001077489.4:c.867G>T, NM_001077489.3:c.867G>C, NM_001077489.3:c.867G>T, NM_001077489.2:c.867G>C, NM_001077489.2:c.867G>T, NM_001077490.3:c.*773G>C, NM_001077490.3:c.*773G>T, NM_001077490.2:c.*773G>C, NM_001077490.2:c.*773G>T, NM_001077490.1:c.*773G>C, NM_001077490.1:c.*773G>T, NM_001309861.2:c.735G>C, NM_001309861.2:c.735G>T, NM_001309861.1:c.735G>C, NM_001309861.1:c.735G>T, NM_001309840.2:c.735G>C, NM_001309840.2:c.735G>T, NM_001309840.1:c.735G>C, NM_001309840.1:c.735G>T, XM_017027812.3:c.2844G>C, XM_017027812.3:c.2844G>T, XM_017027812.2:c.2844G>C, XM_017027812.2:c.2844G>T, XM_017027812.1:c.2844G>C, XM_017027812.1:c.2844G>T, XM_017027813.3:c.2799G>C, XM_017027813.3:c.2799G>T, XM_017027813.2:c.2799G>C, XM_017027813.2:c.2799G>T, XM_017027813.1:c.2799G>C, XM_017027813.1:c.2799G>T, XM_017027814.3:c.2796G>C, XM_017027814.3:c.2796G>T, XM_017027818.3:c.690G>C, XM_017027818.3:c.690G>T, XM_017027818.2:c.690G>C, XM_017027818.2:c.690G>T, XM_017027818.1:c.690G>C, XM_017027818.1:c.690G>T, XM_024451872.2:c.816G>C, XM_024451872.2:c.816G>T, XM_017027815.2:c.771G>C, XM_017027815.2:c.771G>T, XM_017027815.1:c.771G>C, XM_017027815.1:c.771G>T, XM_024451875.2:c.735G>C, XM_024451875.2:c.735G>T, XM_024451875.1:c.735G>C, XM_024451875.1:c.735G>T, XM_017027817.2:c.690G>C, XM_017027817.2:c.690G>T, XM_017027817.1:c.690G>C, XM_017027817.1:c.690G>T, XM_017027819.2:c.690G>C, XM_017027819.2:c.690G>T, XM_017027819.1:c.690G>C, XM_017027819.1:c.690G>T, XM_024451873.2:c.735G>C, XM_024451873.2:c.735G>T, XM_024451873.1:c.735G>C, XM_024451873.1:c.735G>T, NM_001410913.1:c.2796G>C, NM_001410913.1:c.2796G>T, XM_047440113.1:c.819G>C, XM_047440113.1:c.819G>T, NM_001410912.1:c.816G>C, NM_001410912.1:c.816G>T, XM_047440116.1:c.738G>C, XM_047440116.1:c.738G>T, XM_047440121.1:c.690G>C, XM_047440121.1:c.690G>T, XM_047440123.1:c.690G>C, XM_047440123.1:c.690G>T, XM_047440114.1:c.738G>C, XM_047440114.1:c.738G>T, NR_003259.1:n.1002G>C, NR_003259.1:n.1002G>T, XM_047440122.1:c.690G>C, XM_047440122.1:c.690G>T, XM_047440125.1:c.738G>C, XM_047440125.1:c.738G>T, XM_047440117.1:c.738G>C, XM_047440117.1:c.738G>T, XM_047440118.1:c.693G>C, XM_047440118.1:c.693G>T, XM_047440120.1:c.693G>C, XM_047440120.1:c.693G>T, XM_047440115.1:c.738G>C, XM_047440115.1:c.738G>T, XM_017027820.1:c.690G>C, XM_017027820.1:c.690G>T, XM_047440124.1:c.690G>C, XM_047440124.1:c.690G>T, XM_047440119.1:c.693G>C, XM_047440119.1:c.693G>T

Select item 139455799714.

rs1394557997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58910348 (GRCh38)
20:57485403 (GRCh37)
Canonical SPDI:: NC_000020.11:58910347:G:A
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58910348G>A, NC_000020.10:g.57485403G>A, NG_016194.2:g.75609G>A, NM_000516.7:c.985G>A, NM_000516.6:c.985G>A, NM_000516.5:c.985G>A, NM_000516.4:c.985G>A, NM_016592.5:c.*891G>A, NM_016592.4:c.*891G>A, NM_016592.3:c.*891G>A, NM_016592.2:c.*891G>A, NM_001077488.5:c.988G>A, NM_001077488.4:c.988G>A, NM_001077488.3:c.988G>A, NM_001077488.2:c.988G>A, NM_080425.4:c.2914G>A, NM_080425.3:c.2914G>A, NM_080425.2:c.2914G>A, NM_080426.4:c.943G>A, NM_080426.3:c.943G>A, NM_080426.2:c.943G>A, NM_001077489.4:c.940G>A, NM_001077489.3:c.940G>A, NM_001077489.2:c.940G>A, NM_001077490.3:c.*846G>A, NM_001077490.2:c.*846G>A, NM_001077490.1:c.*846G>A, NM_001309861.2:c.808G>A, NM_001309861.1:c.808G>A, NM_001309840.2:c.808G>A, NM_001309840.1:c.808G>A, XM_017027812.3:c.2917G>A, XM_017027812.2:c.2917G>A, XM_017027812.1:c.2917G>A, XM_017027813.3:c.2872G>A, XM_017027813.2:c.2872G>A, XM_017027813.1:c.2872G>A, XM_017027814.3:c.2869G>A, XM_017027818.3:c.763G>A, XM_017027818.2:c.763G>A, XM_017027818.1:c.763G>A, XM_024451872.2:c.889G>A, XM_017027815.2:c.844G>A, XM_017027815.1:c.844G>A, XM_024451875.2:c.808G>A, XM_024451875.1:c.808G>A, XM_017027817.2:c.763G>A, XM_017027817.1:c.763G>A, XM_017027819.2:c.763G>A, XM_017027819.1:c.763G>A, XM_024451873.2:c.808G>A, XM_024451873.1:c.808G>A, NM_001410913.1:c.2869G>A, XM_047440113.1:c.892G>A, NM_001410912.1:c.889G>A, XM_047440116.1:c.811G>A, XM_047440121.1:c.763G>A, XM_047440123.1:c.763G>A, XM_047440114.1:c.811G>A, NR_003259.1:n.1075G>A, XM_047440122.1:c.763G>A, XM_047440125.1:c.811G>A, XM_047440117.1:c.811G>A, XM_047440118.1:c.766G>A, XM_047440120.1:c.766G>A, XM_047440115.1:c.811G>A, XM_017027820.1:c.763G>A, XM_047440124.1:c.763G>A, XM_047440119.1:c.766G>A, NP_000507.1:p.Gly329Arg, NP_001070956.1:p.Gly330Arg, NP_536350.2:p.Gly972Arg, NP_536351.1:p.Gly315Arg, NP_001070957.1:p.Gly314Arg, NP_001296790.1:p.Gly270Arg, NP_001296769.1:p.Gly270Arg, XP_016883301.1:p.Gly973Arg, XP_016883302.1:p.Gly958Arg, XP_016883303.1:p.Gly957Arg, XP_016883307.1:p.Gly255Arg, XP_024307640.1:p.Gly297Arg, XP_016883304.1:p.Gly282Arg, XP_024307643.1:p.Gly270Arg, XP_016883306.1:p.Gly255Arg, XP_016883308.1:p.Gly255Arg, XP_024307641.1:p.Gly270Arg, XP_047296069.1:p.Gly298Arg, XP_047296072.1:p.Gly271Arg, XP_047296077.1:p.Gly255Arg, XP_047296079.1:p.Gly255Arg, XP_047296070.1:p.Gly271Arg, XP_047296078.1:p.Gly255Arg, XP_047296081.1:p.Gly271Arg, XP_047296073.1:p.Gly271Arg, XP_047296074.1:p.Gly256Arg, XP_047296076.1:p.Gly256Arg, XP_047296071.1:p.Gly271Arg, XP_016883309.1:p.Gly255Arg, XP_047296080.1:p.Gly255Arg, XP_047296075.1:p.Gly256Arg

Select item 139343006315.

rs1393430063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58910742 (GRCh38)
20:57485797 (GRCh37)
Canonical SPDI:: NC_000020.11:58910741:T:C
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.001027/3 (KOREAN)
HGVS:: NC_000020.11:g.58910742T>C, NC_000020.10:g.57485797T>C, NG_016194.2:g.76003T>C, NM_000516.7:c.1098T>C, NM_000516.6:c.1098T>C, NM_000516.5:c.1098T>C, NM_000516.4:c.1098T>C, NM_016592.5:c.*1004T>C, NM_016592.4:c.*1004T>C, NM_016592.3:c.*1004T>C, NM_016592.2:c.*1004T>C, NM_001077488.5:c.1101T>C, NM_001077488.4:c.1101T>C, NM_001077488.3:c.1101T>C, NM_001077488.2:c.1101T>C, NM_080425.4:c.3027T>C, NM_080425.3:c.3027T>C, NM_080425.2:c.3027T>C, NM_080426.4:c.1056T>C, NM_080426.3:c.1056T>C, NM_080426.2:c.1056T>C, NM_001077489.4:c.1053T>C, NM_001077489.3:c.1053T>C, NM_001077489.2:c.1053T>C, NM_001077490.3:c.*959T>C, NM_001077490.2:c.*959T>C, NM_001077490.1:c.*959T>C, NM_001309861.2:c.921T>C, NM_001309861.1:c.921T>C, NM_001309840.2:c.921T>C, NM_001309840.1:c.921T>C, XM_017027812.3:c.3030T>C, XM_017027812.2:c.3030T>C, XM_017027812.1:c.3030T>C, XM_017027813.3:c.2985T>C, XM_017027813.2:c.2985T>C, XM_017027813.1:c.2985T>C, XM_017027814.3:c.2982T>C, XM_017027818.3:c.876T>C, XM_017027818.2:c.876T>C, XM_017027818.1:c.876T>C, XM_024451872.2:c.1002T>C, XM_017027815.2:c.957T>C, XM_017027815.1:c.957T>C, XM_024451875.2:c.921T>C, XM_024451875.1:c.921T>C, XM_017027817.2:c.876T>C, XM_017027817.1:c.876T>C, XM_017027819.2:c.876T>C, XM_017027819.1:c.876T>C, XM_024451873.2:c.921T>C, XM_024451873.1:c.921T>C, NM_001410913.1:c.2982T>C, XM_047440113.1:c.1005T>C, NM_001410912.1:c.1002T>C, XM_047440116.1:c.924T>C, XM_047440121.1:c.876T>C, XM_047440123.1:c.876T>C, XM_047440114.1:c.924T>C, NR_003259.1:n.1188T>C, XM_047440122.1:c.876T>C, XM_047440125.1:c.924T>C, XM_047440117.1:c.924T>C, XM_047440118.1:c.879T>C, XM_047440120.1:c.879T>C, XM_047440115.1:c.924T>C, XM_017027820.1:c.876T>C, XM_047440124.1:c.876T>C, XM_047440119.1:c.879T>C

Select item 139210497616.

rs1392104976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:58905385 (GRCh38)
20:57480440 (GRCh37)
Canonical SPDI:: NC_000020.11:58905384:A:C,NC_000020.11:58905384:A:G,NC_000020.11:58905384:A:T
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58905385A>C, NC_000020.11:g.58905385A>G, NC_000020.11:g.58905385A>T, NC_000020.10:g.57480440A>C, NC_000020.10:g.57480440A>G, NC_000020.10:g.57480440A>T, NG_016194.2:g.70646A>C, NG_016194.2:g.70646A>G, NG_016194.2:g.70646A>T, NM_000516.7:c.435A>C, NM_000516.7:c.435A>G, NM_000516.7:c.435A>T, NM_000516.6:c.435A>C, NM_000516.6:c.435A>G, NM_000516.6:c.435A>T, NM_000516.5:c.435A>C, NM_000516.5:c.435A>G, NM_000516.5:c.435A>T, NM_000516.4:c.435A>C, NM_000516.4:c.435A>G, NM_000516.4:c.435A>T, NM_016592.5:c.*341A>C, NM_016592.5:c.*341A>G, NM_016592.5:c.*341A>T, NM_016592.4:c.*341A>C, NM_016592.4:c.*341A>G, NM_016592.4:c.*341A>T, NM_016592.3:c.*341A>C, NM_016592.3:c.*341A>G, NM_016592.3:c.*341A>T, NM_016592.2:c.*341A>C, NM_016592.2:c.*341A>G, NM_016592.2:c.*341A>T, NM_001077488.5:c.438A>C, NM_001077488.5:c.438A>G, NM_001077488.5:c.438A>T, NM_001077488.4:c.438A>C, NM_001077488.4:c.438A>G, NM_001077488.4:c.438A>T, NM_001077488.3:c.438A>C, NM_001077488.3:c.438A>G, NM_001077488.3:c.438A>T, NM_001077488.2:c.438A>C, NM_001077488.2:c.438A>G, NM_001077488.2:c.438A>T, NM_080425.4:c.2364A>C, NM_080425.4:c.2364A>G, NM_080425.4:c.2364A>T, NM_080425.3:c.2364A>C, NM_080425.3:c.2364A>G, NM_080425.3:c.2364A>T, NM_080425.2:c.2364A>C, NM_080425.2:c.2364A>G, NM_080425.2:c.2364A>T, NM_080426.4:c.393A>C, NM_080426.4:c.393A>G, NM_080426.4:c.393A>T, NM_080426.3:c.393A>C, NM_080426.3:c.393A>G, NM_080426.3:c.393A>T, NM_080426.2:c.393A>C, NM_080426.2:c.393A>G, NM_080426.2:c.393A>T, NM_001077489.4:c.390A>C, NM_001077489.4:c.390A>G, NM_001077489.4:c.390A>T, NM_001077489.3:c.390A>C, NM_001077489.3:c.390A>G, NM_001077489.3:c.390A>T, NM_001077489.2:c.390A>C, NM_001077489.2:c.390A>G, NM_001077489.2:c.390A>T, NM_001077490.3:c.*296A>C, NM_001077490.3:c.*296A>G, NM_001077490.3:c.*296A>T, NM_001077490.2:c.*296A>C, NM_001077490.2:c.*296A>G, NM_001077490.2:c.*296A>T, NM_001077490.1:c.*296A>C, NM_001077490.1:c.*296A>G, NM_001077490.1:c.*296A>T, NM_001309861.2:c.258A>C, NM_001309861.2:c.258A>G, NM_001309861.2:c.258A>T, NM_001309861.1:c.258A>C, NM_001309861.1:c.258A>G, NM_001309861.1:c.258A>T, NM_001309840.2:c.258A>C, NM_001309840.2:c.258A>G, NM_001309840.2:c.258A>T, NM_001309840.1:c.258A>C, NM_001309840.1:c.258A>G, NM_001309840.1:c.258A>T, XM_017027812.3:c.2367A>C, XM_017027812.3:c.2367A>G, XM_017027812.3:c.2367A>T, XM_017027812.2:c.2367A>C, XM_017027812.2:c.2367A>G, XM_017027812.2:c.2367A>T, XM_017027812.1:c.2367A>C, XM_017027812.1:c.2367A>G, XM_017027812.1:c.2367A>T, XM_017027813.3:c.2322A>C, XM_017027813.3:c.2322A>G, XM_017027813.3:c.2322A>T, XM_017027813.2:c.2322A>C, XM_017027813.2:c.2322A>G, XM_017027813.2:c.2322A>T, XM_017027813.1:c.2322A>C, XM_017027813.1:c.2322A>G, XM_017027813.1:c.2322A>T, XM_017027814.3:c.2319A>C, XM_017027814.3:c.2319A>G, XM_017027814.3:c.2319A>T, XM_017027818.3:c.213A>C, XM_017027818.3:c.213A>G, XM_017027818.3:c.213A>T, XM_017027818.2:c.213A>C, XM_017027818.2:c.213A>G, XM_017027818.2:c.213A>T, XM_017027818.1:c.213A>C, XM_017027818.1:c.213A>G, XM_017027818.1:c.213A>T, XM_024451872.2:c.339A>C, XM_024451872.2:c.339A>G, XM_024451872.2:c.339A>T, XM_017027815.2:c.294A>C, XM_017027815.2:c.294A>G, XM_017027815.2:c.294A>T, XM_017027815.1:c.294A>C, XM_017027815.1:c.294A>G, XM_017027815.1:c.294A>T, XM_024451875.2:c.258A>C, XM_024451875.2:c.258A>G, XM_024451875.2:c.258A>T, XM_024451875.1:c.258A>C, XM_024451875.1:c.258A>G, XM_024451875.1:c.258A>T, XM_017027817.2:c.213A>C, XM_017027817.2:c.213A>G, XM_017027817.2:c.213A>T, XM_017027817.1:c.213A>C, XM_017027817.1:c.213A>G, XM_017027817.1:c.213A>T, XM_017027819.2:c.213A>C, XM_017027819.2:c.213A>G, XM_017027819.2:c.213A>T, XM_017027819.1:c.213A>C, XM_017027819.1:c.213A>G, XM_017027819.1:c.213A>T, XM_024451873.2:c.258A>C, XM_024451873.2:c.258A>G, XM_024451873.2:c.258A>T, XM_024451873.1:c.258A>C, XM_024451873.1:c.258A>G, XM_024451873.1:c.258A>T, NM_001410913.1:c.2319A>C, NM_001410913.1:c.2319A>G, NM_001410913.1:c.2319A>T, XM_047440113.1:c.342A>C, XM_047440113.1:c.342A>G, XM_047440113.1:c.342A>T, NM_001410912.1:c.339A>C, NM_001410912.1:c.339A>G, NM_001410912.1:c.339A>T, XM_047440116.1:c.261A>C, XM_047440116.1:c.261A>G, XM_047440116.1:c.261A>T, XM_047440121.1:c.213A>C, XM_047440121.1:c.213A>G, XM_047440121.1:c.213A>T, XM_047440123.1:c.213A>C, XM_047440123.1:c.213A>G, XM_047440123.1:c.213A>T, XM_047440114.1:c.261A>C, XM_047440114.1:c.261A>G, XM_047440114.1:c.261A>T, NR_003259.1:n.525A>C, NR_003259.1:n.525A>G, NR_003259.1:n.525A>T, XM_047440122.1:c.213A>C, XM_047440122.1:c.213A>G, XM_047440122.1:c.213A>T, XM_047440125.1:c.261A>C, XM_047440125.1:c.261A>G, XM_047440125.1:c.261A>T, XM_047440117.1:c.261A>C, XM_047440117.1:c.261A>G, XM_047440117.1:c.261A>T, XM_047440118.1:c.216A>C, XM_047440118.1:c.216A>G, XM_047440118.1:c.216A>T, XM_047440120.1:c.216A>C, XM_047440120.1:c.216A>G, XM_047440120.1:c.216A>T, XM_047440115.1:c.261A>C, XM_047440115.1:c.261A>G, XM_047440115.1:c.261A>T, XM_017027820.1:c.213A>C, XM_017027820.1:c.213A>G, XM_017027820.1:c.213A>T, XM_047440124.1:c.213A>C, XM_047440124.1:c.213A>G, XM_047440124.1:c.213A>T, XM_047440119.1:c.216A>C, XM_047440119.1:c.216A>G, XM_047440119.1:c.216A>T, NP_000507.1:p.Glu145Asp, NP_000507.1:p.Glu145Asp, NP_001070956.1:p.Glu146Asp, NP_001070956.1:p.Glu146Asp, NP_536350.2:p.Glu788Asp, NP_536350.2:p.Glu788Asp, NP_536351.1:p.Glu131Asp, NP_536351.1:p.Glu131Asp, NP_001070957.1:p.Glu130Asp, NP_001070957.1:p.Glu130Asp, NP_001296790.1:p.Glu86Asp, NP_001296790.1:p.Glu86Asp, NP_001296769.1:p.Glu86Asp, NP_001296769.1:p.Glu86Asp, XP_016883301.1:p.Glu789Asp, XP_016883301.1:p.Glu789Asp, XP_016883302.1:p.Glu774Asp, XP_016883302.1:p.Glu774Asp, XP_016883303.1:p.Glu773Asp, XP_016883303.1:p.Glu773Asp, XP_016883307.1:p.Glu71Asp, XP_016883307.1:p.Glu71Asp, XP_024307640.1:p.Glu113Asp, XP_024307640.1:p.Glu113Asp, XP_016883304.1:p.Glu98Asp, XP_016883304.1:p.Glu98Asp, XP_024307643.1:p.Glu86Asp, XP_024307643.1:p.Glu86Asp, XP_016883306.1:p.Glu71Asp, XP_016883306.1:p.Glu71Asp, XP_016883308.1:p.Glu71Asp, XP_016883308.1:p.Glu71Asp, XP_024307641.1:p.Glu86Asp, XP_024307641.1:p.Glu86Asp, XP_047296069.1:p.Glu114Asp, XP_047296069.1:p.Glu114Asp, XP_047296072.1:p.Glu87Asp, XP_047296072.1:p.Glu87Asp, XP_047296077.1:p.Glu71Asp, XP_047296077.1:p.Glu71Asp, XP_047296079.1:p.Glu71Asp, XP_047296079.1:p.Glu71Asp, XP_047296070.1:p.Glu87Asp, XP_047296070.1:p.Glu87Asp, XP_047296078.1:p.Glu71Asp, XP_047296078.1:p.Glu71Asp, XP_047296081.1:p.Glu87Asp, XP_047296081.1:p.Glu87Asp, XP_047296073.1:p.Glu87Asp, XP_047296073.1:p.Glu87Asp, XP_047296074.1:p.Glu72Asp, XP_047296074.1:p.Glu72Asp, XP_047296076.1:p.Glu72Asp, XP_047296076.1:p.Glu72Asp, XP_047296071.1:p.Glu87Asp, XP_047296071.1:p.Glu87Asp, XP_016883309.1:p.Glu71Asp, XP_016883309.1:p.Glu71Asp, XP_047296080.1:p.Glu71Asp, XP_047296080.1:p.Glu71Asp, XP_047296075.1:p.Glu72Asp, XP_047296075.1:p.Glu72Asp

Select item 138689820817.

rs1386898208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58909685 (GRCh38)
20:57484740 (GRCh37)
Canonical SPDI:: NC_000020.11:58909684:T:C
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58909685T>C, NC_000020.10:g.57484740T>C, NG_016194.2:g.74946T>C, NM_000516.7:c.720T>C, NM_000516.6:c.720T>C, NM_000516.5:c.720T>C, NM_000516.4:c.720T>C, NM_016592.5:c.*626T>C, NM_016592.4:c.*626T>C, NM_016592.3:c.*626T>C, NM_016592.2:c.*626T>C, NM_001077488.5:c.723T>C, NM_001077488.4:c.723T>C, NM_001077488.3:c.723T>C, NM_001077488.2:c.723T>C, NM_080425.4:c.2649T>C, NM_080425.3:c.2649T>C, NM_080425.2:c.2649T>C, NM_080426.4:c.678T>C, NM_080426.3:c.678T>C, NM_080426.2:c.678T>C, NM_001077489.4:c.675T>C, NM_001077489.3:c.675T>C, NM_001077489.2:c.675T>C, NM_001077490.3:c.*581T>C, NM_001077490.2:c.*581T>C, NM_001077490.1:c.*581T>C, NM_001309861.2:c.543T>C, NM_001309861.1:c.543T>C, NM_001309840.2:c.543T>C, NM_001309840.1:c.543T>C, XM_017027812.3:c.2652T>C, XM_017027812.2:c.2652T>C, XM_017027812.1:c.2652T>C, XM_017027813.3:c.2607T>C, XM_017027813.2:c.2607T>C, XM_017027813.1:c.2607T>C, XM_017027814.3:c.2604T>C, XM_017027818.3:c.498T>C, XM_017027818.2:c.498T>C, XM_017027818.1:c.498T>C, XM_024451872.2:c.624T>C, XM_017027815.2:c.579T>C, XM_017027815.1:c.579T>C, XM_024451875.2:c.543T>C, XM_024451875.1:c.543T>C, XM_017027817.2:c.498T>C, XM_017027817.1:c.498T>C, XM_017027819.2:c.498T>C, XM_017027819.1:c.498T>C, XM_024451873.2:c.543T>C, XM_024451873.1:c.543T>C, NM_001410913.1:c.2604T>C, XM_047440113.1:c.627T>C, NM_001410912.1:c.624T>C, XM_047440116.1:c.546T>C, XM_047440121.1:c.498T>C, XM_047440123.1:c.498T>C, XM_047440114.1:c.546T>C, NR_003259.1:n.810T>C, XM_047440122.1:c.498T>C, XM_047440125.1:c.546T>C, XM_047440117.1:c.546T>C, XM_047440118.1:c.501T>C, XM_047440120.1:c.501T>C, XM_047440115.1:c.546T>C, XM_017027820.1:c.498T>C, XM_047440124.1:c.498T>C, XM_047440119.1:c.501T>C

Select item 138685388818.

rs1386853888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:58910353 (GRCh38)
20:57485408 (GRCh37)
Canonical SPDI:: NC_000020.11:58910352:G:A,NC_000020.11:58910352:G:T
Gene:: GNAS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_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_000020.11:g.58910353G>A, NC_000020.11:g.58910353G>T, NC_000020.10:g.57485408G>A, NC_000020.10:g.57485408G>T, NG_016194.2:g.75614G>A, NG_016194.2:g.75614G>T, NM_000516.7:c.990G>A, NM_000516.7:c.990G>T, NM_000516.6:c.990G>A, NM_000516.6:c.990G>T, NM_000516.5:c.990G>A, NM_000516.5:c.990G>T, NM_000516.4:c.990G>A, NM_000516.4:c.990G>T, NM_016592.5:c.*896G>A, NM_016592.5:c.*896G>T, NM_016592.4:c.*896G>A, NM_016592.4:c.*896G>T, NM_016592.3:c.*896G>A, NM_016592.3:c.*896G>T, NM_016592.2:c.*896G>A, NM_016592.2:c.*896G>T, NM_001077488.5:c.993G>A, NM_001077488.5:c.993G>T, NM_001077488.4:c.993G>A, NM_001077488.4:c.993G>T, NM_001077488.3:c.993G>A, NM_001077488.3:c.993G>T, NM_001077488.2:c.993G>A, NM_001077488.2:c.993G>T, NM_080425.4:c.2919G>A, NM_080425.4:c.2919G>T, NM_080425.3:c.2919G>A, NM_080425.3:c.2919G>T, NM_080425.2:c.2919G>A, NM_080425.2:c.2919G>T, NM_080426.4:c.948G>A, NM_080426.4:c.948G>T, NM_080426.3:c.948G>A, NM_080426.3:c.948G>T, NM_080426.2:c.948G>A, NM_080426.2:c.948G>T, NM_001077489.4:c.945G>A, NM_001077489.4:c.945G>T, NM_001077489.3:c.945G>A, NM_001077489.3:c.945G>T, NM_001077489.2:c.945G>A, NM_001077489.2:c.945G>T, NM_001077490.3:c.*851G>A, NM_001077490.3:c.*851G>T, NM_001077490.2:c.*851G>A, NM_001077490.2:c.*851G>T, NM_001077490.1:c.*851G>A, NM_001077490.1:c.*851G>T, NM_001309861.2:c.813G>A, NM_001309861.2:c.813G>T, NM_001309861.1:c.813G>A, NM_001309861.1:c.813G>T, NM_001309840.2:c.813G>A, NM_001309840.2:c.813G>T, NM_001309840.1:c.813G>A, NM_001309840.1:c.813G>T, XM_017027812.3:c.2922G>A, XM_017027812.3:c.2922G>T, XM_017027812.2:c.2922G>A, XM_017027812.2:c.2922G>T, XM_017027812.1:c.2922G>A, XM_017027812.1:c.2922G>T, XM_017027813.3:c.2877G>A, XM_017027813.3:c.2877G>T, XM_017027813.2:c.2877G>A, XM_017027813.2:c.2877G>T, XM_017027813.1:c.2877G>A, XM_017027813.1:c.2877G>T, XM_017027814.3:c.2874G>A, XM_017027814.3:c.2874G>T, XM_017027818.3:c.768G>A, XM_017027818.3:c.768G>T, XM_017027818.2:c.768G>A, XM_017027818.2:c.768G>T, XM_017027818.1:c.768G>A, XM_017027818.1:c.768G>T, XM_024451872.2:c.894G>A, XM_024451872.2:c.894G>T, XM_017027815.2:c.849G>A, XM_017027815.2:c.849G>T, XM_017027815.1:c.849G>A, XM_017027815.1:c.849G>T, XM_024451875.2:c.813G>A, XM_024451875.2:c.813G>T, XM_024451875.1:c.813G>A, XM_024451875.1:c.813G>T, XM_017027817.2:c.768G>A, XM_017027817.2:c.768G>T, XM_017027817.1:c.768G>A, XM_017027817.1:c.768G>T, XM_017027819.2:c.768G>A, XM_017027819.2:c.768G>T, XM_017027819.1:c.768G>A, XM_017027819.1:c.768G>T, XM_024451873.2:c.813G>A, XM_024451873.2:c.813G>T, XM_024451873.1:c.813G>A, XM_024451873.1:c.813G>T, NM_001410913.1:c.2874G>A, NM_001410913.1:c.2874G>T, XM_047440113.1:c.897G>A, XM_047440113.1:c.897G>T, NM_001410912.1:c.894G>A, NM_001410912.1:c.894G>T, XM_047440116.1:c.816G>A, XM_047440116.1:c.816G>T, XM_047440121.1:c.768G>A, XM_047440121.1:c.768G>T, XM_047440123.1:c.768G>A, XM_047440123.1:c.768G>T, XM_047440114.1:c.816G>A, XM_047440114.1:c.816G>T, NR_003259.1:n.1080G>A, NR_003259.1:n.1080G>T, XM_047440122.1:c.768G>A, XM_047440122.1:c.768G>T, XM_047440125.1:c.816G>A, XM_047440125.1:c.816G>T, XM_047440117.1:c.816G>A, XM_047440117.1:c.816G>T, XM_047440118.1:c.771G>A, XM_047440118.1:c.771G>T, XM_047440120.1:c.771G>A, XM_047440120.1:c.771G>T, XM_047440115.1:c.816G>A, XM_047440115.1:c.816G>T, XM_017027820.1:c.768G>A, XM_017027820.1:c.768G>T, XM_047440124.1:c.768G>A, XM_047440124.1:c.768G>T, XM_047440119.1:c.771G>A, XM_047440119.1:c.771G>T, NP_000507.1:p.Glu330Asp, NP_001070956.1:p.Glu331Asp, NP_536350.2:p.Glu973Asp, NP_536351.1:p.Glu316Asp, NP_001070957.1:p.Glu315Asp, NP_001296790.1:p.Glu271Asp, NP_001296769.1:p.Glu271Asp, XP_016883301.1:p.Glu974Asp, XP_016883302.1:p.Glu959Asp, XP_016883303.1:p.Glu958Asp, XP_016883307.1:p.Glu256Asp, XP_024307640.1:p.Glu298Asp, XP_016883304.1:p.Glu283Asp, XP_024307643.1:p.Glu271Asp, XP_016883306.1:p.Glu256Asp, XP_016883308.1:p.Glu256Asp, XP_024307641.1:p.Glu271Asp, XP_047296069.1:p.Glu299Asp, XP_047296072.1:p.Glu272Asp, XP_047296077.1:p.Glu256Asp, XP_047296079.1:p.Glu256Asp, XP_047296070.1:p.Glu272Asp, XP_047296078.1:p.Glu256Asp, XP_047296081.1:p.Glu272Asp, XP_047296073.1:p.Glu272Asp, XP_047296074.1:p.Glu257Asp, XP_047296076.1:p.Glu257Asp, XP_047296071.1:p.Glu272Asp, XP_016883309.1:p.Glu256Asp, XP_047296080.1:p.Glu256Asp, XP_047296075.1:p.Glu257Asp

Select item 138534538419.

rs1385345384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58895667 (GRCh38)
20:57470722 (GRCh37)
Canonical SPDI:: NC_000020.11:58895666:T:C
Gene:: GNAS (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58895667T>C, NC_000020.10:g.57470722T>C, NG_016194.2:g.60928T>C, NM_000516.7:c.195T>C, NM_000516.6:c.195T>C, NM_000516.5:c.195T>C, NM_000516.4:c.195T>C, NM_016592.5:c.*98T>C, NM_016592.4:c.*98T>C, NM_016592.3:c.*98T>C, NM_016592.2:c.*98T>C, NM_001077488.5:c.195T>C, NM_001077488.4:c.195T>C, NM_001077488.3:c.195T>C, NM_001077488.2:c.195T>C, NM_080425.4:c.2124T>C, NM_080425.3:c.2124T>C, NM_080425.2:c.2124T>C, NM_080426.4:c.195T>C, NM_080426.3:c.195T>C, NM_080426.2:c.195T>C, NM_001077489.4:c.195T>C, NM_001077489.3:c.195T>C, NM_001077489.2:c.195T>C, NM_001077490.3:c.*56T>C, NM_001077490.2:c.*56T>C, NM_001077490.1:c.*56T>C, NM_001309861.2:c.18T>C, NM_001309861.1:c.18T>C, NM_001309840.2:c.18T>C, NM_001309840.1:c.18T>C, NM_001309842.2:c.195T>C, NM_001309842.1:c.195T>C, NR_132272.2:n.103T>C, NR_132272.1:n.102T>C, NM_001309883.1:c.*214T>C, NR_132273.1:n.462T>C, XM_017027812.3:c.2124T>C, XM_017027812.2:c.2124T>C, XM_017027812.1:c.2124T>C, XM_017027813.3:c.2124T>C, XM_017027813.2:c.2124T>C, XM_017027813.1:c.2124T>C, XM_017027814.3:c.2124T>C, XM_017027818.3:c.18T>C, XM_017027818.2:c.18T>C, XM_017027818.1:c.18T>C, XM_024451872.2:c.99T>C, XM_017027815.2:c.99T>C, XM_017027815.1:c.99T>C, XM_024451875.2:c.18T>C, XM_024451875.1:c.18T>C, XM_017027817.2:c.18T>C, XM_017027817.1:c.18T>C, XM_017027819.2:c.18T>C, XM_017027819.1:c.18T>C, XM_024451873.2:c.18T>C, XM_024451873.1:c.18T>C, NM_001410913.1:c.2124T>C, XM_047440113.1:c.99T>C, NM_001410912.1:c.99T>C, XM_047440116.1:c.18T>C, XM_047440121.1:c.18T>C, XM_047440123.1:c.18T>C, XM_047440114.1:c.18T>C, NR_003259.1:n.285T>C, XM_047440122.1:c.18T>C, XM_047440125.1:c.18T>C, XM_047440117.1:c.18T>C, XM_047440118.1:c.18T>C, XM_047440120.1:c.18T>C, XM_047440115.1:c.18T>C, XM_017027820.1:c.-65T>C, XM_047440119.1:c.18T>C

Select item 136902585620.

rs1369025856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:58910061 (GRCh38)
20:57485116 (GRCh37)
Canonical SPDI:: NC_000020.11:58910060:G:A,NC_000020.11:58910060:G:C,NC_000020.11:58910060:G:T
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by cluster
HGVS:: NC_000020.11:g.58910061G>A, NC_000020.11:g.58910061G>C, NC_000020.11:g.58910061G>T, NC_000020.10:g.57485116G>A, NC_000020.10:g.57485116G>C, NC_000020.10:g.57485116G>T, NG_016194.2:g.75322G>A, NG_016194.2:g.75322G>C, NG_016194.2:g.75322G>T, NM_000516.7:c.950G>A, NM_000516.7:c.950G>C, NM_000516.7:c.950G>T, NM_000516.6:c.950G>A, NM_000516.6:c.950G>C, NM_000516.6:c.950G>T, NM_000516.5:c.950G>A, NM_000516.5:c.950G>C, NM_000516.5:c.950G>T, NM_000516.4:c.950G>A, NM_000516.4:c.950G>C, NM_000516.4:c.950G>T, NM_016592.5:c.*856G>A, NM_016592.5:c.*856G>C, NM_016592.5:c.*856G>T, NM_016592.4:c.*856G>A, NM_016592.4:c.*856G>C, NM_016592.4:c.*856G>T, NM_016592.3:c.*856G>A, NM_016592.3:c.*856G>C, NM_016592.3:c.*856G>T, NM_016592.2:c.*856G>A, NM_016592.2:c.*856G>C, NM_016592.2:c.*856G>T, NM_001077488.5:c.953G>A, NM_001077488.5:c.953G>C, NM_001077488.5:c.953G>T, NM_001077488.4:c.953G>A, NM_001077488.4:c.953G>C, NM_001077488.4:c.953G>T, NM_001077488.3:c.953G>A, NM_001077488.3:c.953G>C, NM_001077488.3:c.953G>T, NM_001077488.2:c.953G>A, NM_001077488.2:c.953G>C, NM_001077488.2:c.953G>T, NM_080425.4:c.2879G>A, NM_080425.4:c.2879G>C, NM_080425.4:c.2879G>T, NM_080425.3:c.2879G>A, NM_080425.3:c.2879G>C, NM_080425.3:c.2879G>T, NM_080425.2:c.2879G>A, NM_080425.2:c.2879G>C, NM_080425.2:c.2879G>T, NM_080426.4:c.908G>A, NM_080426.4:c.908G>C, NM_080426.4:c.908G>T, NM_080426.3:c.908G>A, NM_080426.3:c.908G>C, NM_080426.3:c.908G>T, NM_080426.2:c.908G>A, NM_080426.2:c.908G>C, NM_080426.2:c.908G>T, NM_001077489.4:c.905G>A, NM_001077489.4:c.905G>C, NM_001077489.4:c.905G>T, NM_001077489.3:c.905G>A, NM_001077489.3:c.905G>C, NM_001077489.3:c.905G>T, NM_001077489.2:c.905G>A, NM_001077489.2:c.905G>C, NM_001077489.2:c.905G>T, NM_001077490.3:c.*811G>A, NM_001077490.3:c.*811G>C, NM_001077490.3:c.*811G>T, NM_001077490.2:c.*811G>A, NM_001077490.2:c.*811G>C, NM_001077490.2:c.*811G>T, NM_001077490.1:c.*811G>A, NM_001077490.1:c.*811G>C, NM_001077490.1:c.*811G>T, NM_001309861.2:c.773G>A, NM_001309861.2:c.773G>C, NM_001309861.2:c.773G>T, NM_001309861.1:c.773G>A, NM_001309861.1:c.773G>C, NM_001309861.1:c.773G>T, NM_001309840.2:c.773G>A, NM_001309840.2:c.773G>C, NM_001309840.2:c.773G>T, NM_001309840.1:c.773G>A, NM_001309840.1:c.773G>C, NM_001309840.1:c.773G>T, XM_017027812.3:c.2882G>A, XM_017027812.3:c.2882G>C, XM_017027812.3:c.2882G>T, XM_017027812.2:c.2882G>A, XM_017027812.2:c.2882G>C, XM_017027812.2:c.2882G>T, XM_017027812.1:c.2882G>A, XM_017027812.1:c.2882G>C, XM_017027812.1:c.2882G>T, XM_017027813.3:c.2837G>A, XM_017027813.3:c.2837G>C, XM_017027813.3:c.2837G>T, XM_017027813.2:c.2837G>A, XM_017027813.2:c.2837G>C, XM_017027813.2:c.2837G>T, XM_017027813.1:c.2837G>A, XM_017027813.1:c.2837G>C, XM_017027813.1:c.2837G>T, XM_017027814.3:c.2834G>A, XM_017027814.3:c.2834G>C, XM_017027814.3:c.2834G>T, XM_017027818.3:c.728G>A, XM_017027818.3:c.728G>C, XM_017027818.3:c.728G>T, XM_017027818.2:c.728G>A, XM_017027818.2:c.728G>C, XM_017027818.2:c.728G>T, XM_017027818.1:c.728G>A, XM_017027818.1:c.728G>C, XM_017027818.1:c.728G>T, XM_024451872.2:c.854G>A, XM_024451872.2:c.854G>C, XM_024451872.2:c.854G>T, XM_017027815.2:c.809G>A, XM_017027815.2:c.809G>C, XM_017027815.2:c.809G>T, XM_017027815.1:c.809G>A, XM_017027815.1:c.809G>C, XM_017027815.1:c.809G>T, XM_024451875.2:c.773G>A, XM_024451875.2:c.773G>C, XM_024451875.2:c.773G>T, XM_024451875.1:c.773G>A, XM_024451875.1:c.773G>C, XM_024451875.1:c.773G>T, XM_017027817.2:c.728G>A, XM_017027817.2:c.728G>C, XM_017027817.2:c.728G>T, XM_017027817.1:c.728G>A, XM_017027817.1:c.728G>C, XM_017027817.1:c.728G>T, XM_017027819.2:c.728G>A, XM_017027819.2:c.728G>C, XM_017027819.2:c.728G>T, XM_017027819.1:c.728G>A, XM_017027819.1:c.728G>C, XM_017027819.1:c.728G>T, XM_024451873.2:c.773G>A, XM_024451873.2:c.773G>C, XM_024451873.2:c.773G>T, XM_024451873.1:c.773G>A, XM_024451873.1:c.773G>C, XM_024451873.1:c.773G>T, NM_001410913.1:c.2834G>A, NM_001410913.1:c.2834G>C, NM_001410913.1:c.2834G>T, XM_047440113.1:c.857G>A, XM_047440113.1:c.857G>C, XM_047440113.1:c.857G>T, NM_001410912.1:c.854G>A, NM_001410912.1:c.854G>C, NM_001410912.1:c.854G>T, XM_047440116.1:c.776G>A, XM_047440116.1:c.776G>C, XM_047440116.1:c.776G>T, XM_047440121.1:c.728G>A, XM_047440121.1:c.728G>C, XM_047440121.1:c.728G>T, XM_047440123.1:c.728G>A, XM_047440123.1:c.728G>C, XM_047440123.1:c.728G>T, XM_047440114.1:c.776G>A, XM_047440114.1:c.776G>C, XM_047440114.1:c.776G>T, NR_003259.1:n.1040G>A, NR_003259.1:n.1040G>C, NR_003259.1:n.1040G>T, XM_047440122.1:c.728G>A, XM_047440122.1:c.728G>C, XM_047440122.1:c.728G>T, XM_047440125.1:c.776G>A, XM_047440125.1:c.776G>C, XM_047440125.1:c.776G>T, XM_047440117.1:c.776G>A, XM_047440117.1:c.776G>C, XM_047440117.1:c.776G>T, XM_047440118.1:c.731G>A, XM_047440118.1:c.731G>C, XM_047440118.1:c.731G>T, XM_047440120.1:c.731G>A, XM_047440120.1:c.731G>C, XM_047440120.1:c.731G>T, XM_047440115.1:c.776G>A, XM_047440115.1:c.776G>C, XM_047440115.1:c.776G>T, XM_017027820.1:c.728G>A, XM_017027820.1:c.728G>C, XM_017027820.1:c.728G>T, XM_047440124.1:c.728G>A, XM_047440124.1:c.728G>C, XM_047440124.1:c.728G>T, XM_047440119.1:c.731G>A, XM_047440119.1:c.731G>C, XM_047440119.1:c.731G>T, NP_000507.1:p.Arg317His, NP_000507.1:p.Arg317Pro, NP_000507.1:p.Arg317Leu, NP_001070956.1:p.Arg318His, NP_001070956.1:p.Arg318Pro, NP_001070956.1:p.Arg318Leu, NP_536350.2:p.Arg960His, NP_536350.2:p.Arg960Pro, NP_536350.2:p.Arg960Leu, NP_536351.1:p.Arg303His, NP_536351.1:p.Arg303Pro, NP_536351.1:p.Arg303Leu, NP_001070957.1:p.Arg302His, NP_001070957.1:p.Arg302Pro, NP_001070957.1:p.Arg302Leu, NP_001296790.1:p.Arg258His, NP_001296790.1:p.Arg258Pro, NP_001296790.1:p.Arg258Leu, NP_001296769.1:p.Arg258His, NP_001296769.1:p.Arg258Pro, NP_001296769.1:p.Arg258Leu, XP_016883301.1:p.Arg961His, XP_016883301.1:p.Arg961Pro, XP_016883301.1:p.Arg961Leu, XP_016883302.1:p.Arg946His, XP_016883302.1:p.Arg946Pro, XP_016883302.1:p.Arg946Leu, XP_016883303.1:p.Arg945His, XP_016883303.1:p.Arg945Pro, XP_016883303.1:p.Arg945Leu, XP_016883307.1:p.Arg243His, XP_016883307.1:p.Arg243Pro, XP_016883307.1:p.Arg243Leu, XP_024307640.1:p.Arg285His, XP_024307640.1:p.Arg285Pro, XP_024307640.1:p.Arg285Leu, XP_016883304.1:p.Arg270His, XP_016883304.1:p.Arg270Pro, XP_016883304.1:p.Arg270Leu, XP_024307643.1:p.Arg258His, XP_024307643.1:p.Arg258Pro, XP_024307643.1:p.Arg258Leu, XP_016883306.1:p.Arg243His, XP_016883306.1:p.Arg243Pro, XP_016883306.1:p.Arg243Leu, XP_016883308.1:p.Arg243His, XP_016883308.1:p.Arg243Pro, XP_016883308.1:p.Arg243Leu, XP_024307641.1:p.Arg258His, XP_024307641.1:p.Arg258Pro, XP_024307641.1:p.Arg258Leu, XP_047296069.1:p.Arg286His, XP_047296069.1:p.Arg286Pro, XP_047296069.1:p.Arg286Leu, XP_047296072.1:p.Arg259His, XP_047296072.1:p.Arg259Pro, XP_047296072.1:p.Arg259Leu, XP_047296077.1:p.Arg243His, XP_047296077.1:p.Arg243Pro, XP_047296077.1:p.Arg243Leu, XP_047296079.1:p.Arg243His, XP_047296079.1:p.Arg243Pro, XP_047296079.1:p.Arg243Leu, XP_047296070.1:p.Arg259His, XP_047296070.1:p.Arg259Pro, XP_047296070.1:p.Arg259Leu, XP_047296078.1:p.Arg243His, XP_047296078.1:p.Arg243Pro, XP_047296078.1:p.Arg243Leu, XP_047296081.1:p.Arg259His, XP_047296081.1:p.Arg259Pro, XP_047296081.1:p.Arg259Leu, XP_047296073.1:p.Arg259His, XP_047296073.1:p.Arg259Pro, XP_047296073.1:p.Arg259Leu, XP_047296074.1:p.Arg244His, XP_047296074.1:p.Arg244Pro, XP_047296074.1:p.Arg244Leu, XP_047296076.1:p.Arg244His, XP_047296076.1:p.Arg244Pro, XP_047296076.1:p.Arg244Leu, XP_047296071.1:p.Arg259His, XP_047296071.1:p.Arg259Pro, XP_047296071.1:p.Arg259Leu, XP_016883309.1:p.Arg243His, XP_016883309.1:p.Arg243Pro, XP_016883309.1:p.Arg243Leu, XP_047296080.1:p.Arg243His, XP_047296080.1:p.Arg243Pro, XP_047296080.1:p.Arg243Leu, XP_047296075.1:p.Arg244His, XP_047296075.1:p.Arg244Pro, XP_047296075.1:p.Arg244Leu

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