SNP Links for Protein (Select 834400221) - SNP

Links from Protein

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Select item 14799797521.

rs1479979752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58891825 (GRCh38)
20:57466880 (GRCh37)
Canonical SPDI:: NC_000020.11:58891824:C:T
Gene:: GNAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58891825C>T, NC_000020.10:g.57466880C>T, NG_016194.2:g.57086C>T, NM_000516.7:c.99C>T, NM_000516.6:c.99C>T, NM_000516.5:c.99C>T, NM_000516.4:c.99C>T, NM_001077488.5:c.99C>T, NM_001077488.4:c.99C>T, NM_001077488.3:c.99C>T, NM_001077488.2:c.99C>T, NM_080426.4:c.99C>T, NM_080426.3:c.99C>T, NM_080426.2:c.99C>T, NM_001077489.4:c.99C>T, NM_001077489.3:c.99C>T, NM_001077489.2:c.99C>T, NM_001309842.2:c.99C>T, NM_001309842.1:c.99C>T

Select item 14627207722.

rs1462720772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58898969 (GRCh38)
20:57474024 (GRCh37)
Canonical SPDI:: NC_000020.11:58898968:A:G
Gene:: GNAS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58898969A>G, NC_000020.10:g.57474024A>G, NG_016194.2:g.64230A>G, NM_000516.7:c.241A>G, NM_000516.6:c.241A>G, NM_000516.5:c.241A>G, NM_000516.4:c.241A>G, NM_016592.5:c.*144A>G, NM_016592.4:c.*144A>G, NM_016592.3:c.*144A>G, NM_016592.2:c.*144A>G, NM_001077488.5:c.241A>G, NM_001077488.4:c.241A>G, NM_001077488.3:c.241A>G, NM_001077488.2:c.241A>G, NM_080425.4:c.2170A>G, NM_080425.3:c.2170A>G, NM_080425.2:c.2170A>G, NM_001077490.3:c.*102A>G, NM_001077490.2:c.*102A>G, NM_001077490.1:c.*102A>G, NM_001309861.2:c.64A>G, NM_001309861.1:c.64A>G, NM_001309840.2:c.64A>G, NM_001309840.1:c.64A>G, NM_001309842.2:c.241A>G, NM_001309842.1:c.241A>G, NR_132272.2:n.149A>G, NR_132272.1:n.148A>G, NM_001309883.1:c.*260A>G, NR_132273.1:n.508A>G, XM_017027812.3:c.2170A>G, XM_017027812.2:c.2170A>G, XM_017027812.1:c.2170A>G, XM_024451872.2:c.145A>G, XM_024451875.2:c.64A>G, XM_024451875.1:c.64A>G, XM_024451873.2:c.64A>G, XM_024451873.1:c.64A>G, XM_047440113.1:c.145A>G, NM_001410912.1:c.145A>G, XM_047440116.1:c.64A>G, XM_047440114.1:c.64A>G, NR_003259.1:n.331A>G, XM_047440125.1:c.64A>G, XM_047440117.1:c.64A>G, XM_047440115.1:c.64A>G, XM_047440124.1:c.-64A>G, NP_000507.1:p.Arg81Gly, NP_001070956.1:p.Arg81Gly, NP_536350.2:p.Arg724Gly, NP_001296790.1:p.Arg22Gly, NP_001296769.1:p.Arg22Gly, NP_001296771.1:p.Arg81Gly, XP_016883301.1:p.Arg724Gly, XP_024307640.1:p.Arg49Gly, XP_024307643.1:p.Arg22Gly, XP_024307641.1:p.Arg22Gly, XP_047296069.1:p.Arg49Gly, XP_047296072.1:p.Arg22Gly, XP_047296070.1:p.Arg22Gly, XP_047296081.1:p.Arg22Gly, XP_047296073.1:p.Arg22Gly, XP_047296071.1:p.Arg22Gly

Select item 14399829863.

rs1439982986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58891843 (GRCh38)
20:57466898 (GRCh37)
Canonical SPDI:: NC_000020.11:58891842:C:T
Gene:: GNAS (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000020.11:g.58891843C>T, NC_000020.10:g.57466898C>T, NG_016194.2:g.57104C>T, NM_000516.7:c.117C>T, NM_000516.6:c.117C>T, NM_000516.5:c.117C>T, NM_000516.4:c.117C>T, NM_001077488.5:c.117C>T, NM_001077488.4:c.117C>T, NM_001077488.3:c.117C>T, NM_001077488.2:c.117C>T, NM_080426.4:c.117C>T, NM_080426.3:c.117C>T, NM_080426.2:c.117C>T, NM_001077489.4:c.117C>T, NM_001077489.3:c.117C>T, NM_001077489.2:c.117C>T, NM_001309842.2:c.117C>T, NM_001309842.1:c.117C>T

Select item 14177871394.

rs1417787139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58891766 (GRCh38)
20:57466821 (GRCh37)
Canonical SPDI:: NC_000020.11:58891765:A:G
Gene:: GNAS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000020.11:g.58891766A>G, NC_000020.10:g.57466821A>G, NG_016194.2:g.57027A>G, NM_000516.7:c.40A>G, NM_000516.6:c.40A>G, NM_000516.5:c.40A>G, NM_000516.4:c.40A>G, NM_001077488.5:c.40A>G, NM_001077488.4:c.40A>G, NM_001077488.3:c.40A>G, NM_001077488.2:c.40A>G, NM_080426.4:c.40A>G, NM_080426.3:c.40A>G, NM_080426.2:c.40A>G, NM_001077489.4:c.40A>G, NM_001077489.3:c.40A>G, NM_001077489.2:c.40A>G, NM_001309842.2:c.40A>G, NM_001309842.1:c.40A>G, NP_000507.1:p.Asn14Asp, NP_001070956.1:p.Asn14Asp, NP_536351.1:p.Asn14Asp, NP_001070957.1:p.Asn14Asp, NP_001296771.1:p.Asn14Asp

Select item 14176491215.

rs1417649121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58891783 (GRCh38)
20:57466838 (GRCh37)
Canonical SPDI:: NC_000020.11:58891782:G:A
Gene:: GNAS (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000020.11:g.58891783G>A, NC_000020.10:g.57466838G>A, NG_016194.2:g.57044G>A, NM_000516.7:c.57G>A, NM_000516.6:c.57G>A, NM_000516.5:c.57G>A, NM_000516.4:c.57G>A, NM_001077488.5:c.57G>A, NM_001077488.4:c.57G>A, NM_001077488.3:c.57G>A, NM_001077488.2:c.57G>A, NM_080426.4:c.57G>A, NM_080426.3:c.57G>A, NM_080426.2:c.57G>A, NM_001077489.4:c.57G>A, NM_001077489.3:c.57G>A, NM_001077489.2:c.57G>A, NM_001309842.2:c.57G>A, NM_001309842.1:c.57G>A

Select item 13956301126.

rs1395630112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58898980 (GRCh38)
20:57474035 (GRCh37)
Canonical SPDI:: NC_000020.11:58898979:C:T
Gene:: GNAS (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant,3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000106/3 (TOMMO)
HGVS:: NC_000020.11:g.58898980C>T, NC_000020.10:g.57474035C>T, NG_016194.2:g.64241C>T, NM_000516.7:c.252C>T, NM_000516.6:c.252C>T, NM_000516.5:c.252C>T, NM_000516.4:c.252C>T, NM_016592.5:c.*155C>T, NM_016592.4:c.*155C>T, NM_016592.3:c.*155C>T, NM_016592.2:c.*155C>T, NM_001077488.5:c.252C>T, NM_001077488.4:c.252C>T, NM_001077488.3:c.252C>T, NM_001077488.2:c.252C>T, NM_080425.4:c.2181C>T, NM_080425.3:c.2181C>T, NM_080425.2:c.2181C>T, NM_001077490.3:c.*113C>T, NM_001077490.2:c.*113C>T, NM_001077490.1:c.*113C>T, NM_001309861.2:c.75C>T, NM_001309861.1:c.75C>T, NM_001309840.2:c.75C>T, NM_001309840.1:c.75C>T, NM_001309842.2:c.252C>T, NM_001309842.1:c.252C>T, NR_132272.2:n.160C>T, NR_132272.1:n.159C>T, NM_001309883.1:c.*271C>T, NR_132273.1:n.519C>T, XM_017027812.3:c.2181C>T, XM_017027812.2:c.2181C>T, XM_017027812.1:c.2181C>T, XM_024451872.2:c.156C>T, XM_024451875.2:c.75C>T, XM_024451875.1:c.75C>T, XM_024451873.2:c.75C>T, XM_024451873.1:c.75C>T, XM_047440113.1:c.156C>T, NM_001410912.1:c.156C>T, XM_047440116.1:c.75C>T, XM_047440114.1:c.75C>T, NR_003259.1:n.342C>T, XM_047440125.1:c.75C>T, XM_047440117.1:c.75C>T, XM_047440115.1:c.75C>T, XM_047440124.1:c.-53C>T

Select item 13917645767.

rs1391764576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:58891786 (GRCh38)
20:57466841 (GRCh37)
Canonical SPDI:: NC_000020.11:58891785:T:C,NC_000020.11:58891785:T:G
Gene:: GNAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: C=0.0035/5 (KOREAN)
HGVS:: NC_000020.11:g.58891786T>C, NC_000020.11:g.58891786T>G, NC_000020.10:g.57466841T>C, NC_000020.10:g.57466841T>G, NG_016194.2:g.57047T>C, NG_016194.2:g.57047T>G, NM_000516.7:c.60T>C, NM_000516.7:c.60T>G, NM_000516.6:c.60T>C, NM_000516.6:c.60T>G, NM_000516.5:c.60T>C, NM_000516.5:c.60T>G, NM_000516.4:c.60T>C, NM_000516.4:c.60T>G, NM_001077488.5:c.60T>C, NM_001077488.5:c.60T>G, NM_001077488.4:c.60T>C, NM_001077488.4:c.60T>G, NM_001077488.3:c.60T>C, NM_001077488.3:c.60T>G, NM_001077488.2:c.60T>C, NM_001077488.2:c.60T>G, NM_080426.4:c.60T>C, NM_080426.4:c.60T>G, NM_080426.3:c.60T>C, NM_080426.3:c.60T>G, NM_080426.2:c.60T>C, NM_080426.2:c.60T>G, NM_001077489.4:c.60T>C, NM_001077489.4:c.60T>G, NM_001077489.3:c.60T>C, NM_001077489.3:c.60T>G, NM_001077489.2:c.60T>C, NM_001077489.2:c.60T>G, NM_001309842.2:c.60T>C, NM_001309842.2:c.60T>G, NM_001309842.1:c.60T>C, NM_001309842.1:c.60T>G

Select item 13853453848.

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 13739074649.

rs1373907464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:58891855 (GRCh38)
20:57466910 (GRCh37)
Canonical SPDI:: NC_000020.11:58891854:G:A,NC_000020.11:58891854:G:C
Gene:: GNAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58891855G>A, NC_000020.11:g.58891855G>C, NC_000020.10:g.57466910G>A, NC_000020.10:g.57466910G>C, NG_016194.2:g.57116G>A, NG_016194.2:g.57116G>C, NM_000516.7:c.129G>A, NM_000516.7:c.129G>C, NM_000516.6:c.129G>A, NM_000516.6:c.129G>C, NM_000516.5:c.129G>A, NM_000516.5:c.129G>C, NM_000516.4:c.129G>A, NM_000516.4:c.129G>C, NM_001077488.5:c.129G>A, NM_001077488.5:c.129G>C, NM_001077488.4:c.129G>A, NM_001077488.4:c.129G>C, NM_001077488.3:c.129G>A, NM_001077488.3:c.129G>C, NM_001077488.2:c.129G>A, NM_001077488.2:c.129G>C, NM_080426.4:c.129G>A, NM_080426.4:c.129G>C, NM_080426.3:c.129G>A, NM_080426.3:c.129G>C, NM_080426.2:c.129G>A, NM_080426.2:c.129G>C, NM_001077489.4:c.129G>A, NM_001077489.4:c.129G>C, NM_001077489.3:c.129G>A, NM_001077489.3:c.129G>C, NM_001077489.2:c.129G>A, NM_001077489.2:c.129G>C, NM_001309842.2:c.129G>A, NM_001309842.2:c.129G>C, NM_001309842.1:c.129G>A, NM_001309842.1:c.129G>C

Select item 136269925710.

rs1362699257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58891768 (GRCh38)
20:57466823 (GRCh37)
Canonical SPDI:: NC_000020.11:58891767:C:T
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.58891768C>T, NC_000020.10:g.57466823C>T, NG_016194.2:g.57029C>T, NM_000516.7:c.42C>T, NM_000516.6:c.42C>T, NM_000516.5:c.42C>T, NM_000516.4:c.42C>T, NM_001077488.5:c.42C>T, NM_001077488.4:c.42C>T, NM_001077488.3:c.42C>T, NM_001077488.2:c.42C>T, NM_080426.4:c.42C>T, NM_080426.3:c.42C>T, NM_080426.2:c.42C>T, NM_001077489.4:c.42C>T, NM_001077489.3:c.42C>T, NM_001077489.2:c.42C>T, NM_001309842.2:c.42C>T, NM_001309842.1:c.42C>T

Select item 135368149411.

rs1353681494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:58898977 (GRCh38)
20:57474032 (GRCh37)
Canonical SPDI:: NC_000020.11:58898976:C:G
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58898977C>G, NC_000020.10:g.57474032C>G, NG_016194.2:g.64238C>G, NM_000516.7:c.249C>G, NM_000516.6:c.249C>G, NM_000516.5:c.249C>G, NM_000516.4:c.249C>G, NM_016592.5:c.*152C>G, NM_016592.4:c.*152C>G, NM_016592.3:c.*152C>G, NM_016592.2:c.*152C>G, NM_001077488.5:c.249C>G, NM_001077488.4:c.249C>G, NM_001077488.3:c.249C>G, NM_001077488.2:c.249C>G, NM_080425.4:c.2178C>G, NM_080425.3:c.2178C>G, NM_080425.2:c.2178C>G, NM_001077490.3:c.*110C>G, NM_001077490.2:c.*110C>G, NM_001077490.1:c.*110C>G, NM_001309861.2:c.72C>G, NM_001309861.1:c.72C>G, NM_001309840.2:c.72C>G, NM_001309840.1:c.72C>G, NM_001309842.2:c.249C>G, NM_001309842.1:c.249C>G, NR_132272.2:n.157C>G, NR_132272.1:n.156C>G, NM_001309883.1:c.*268C>G, NR_132273.1:n.516C>G, XM_017027812.3:c.2178C>G, XM_017027812.2:c.2178C>G, XM_017027812.1:c.2178C>G, XM_024451872.2:c.153C>G, XM_024451875.2:c.72C>G, XM_024451875.1:c.72C>G, XM_024451873.2:c.72C>G, XM_024451873.1:c.72C>G, XM_047440113.1:c.153C>G, NM_001410912.1:c.153C>G, XM_047440116.1:c.72C>G, XM_047440114.1:c.72C>G, NR_003259.1:n.339C>G, XM_047440125.1:c.72C>G, XM_047440117.1:c.72C>G, XM_047440115.1:c.72C>G, XM_047440124.1:c.-56C>G, NP_000507.1:p.Asn83Lys, NP_001070956.1:p.Asn83Lys, NP_536350.2:p.Asn726Lys, NP_001296790.1:p.Asn24Lys, NP_001296769.1:p.Asn24Lys, NP_001296771.1:p.Asn83Lys, XP_016883301.1:p.Asn726Lys, XP_024307640.1:p.Asn51Lys, XP_024307643.1:p.Asn24Lys, XP_024307641.1:p.Asn24Lys, XP_047296069.1:p.Asn51Lys, XP_047296072.1:p.Asn24Lys, XP_047296070.1:p.Asn24Lys, XP_047296081.1:p.Asn24Lys, XP_047296073.1:p.Asn24Lys, XP_047296071.1:p.Asn24Lys

Select item 135240412312.

rs1352404123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58891795 (GRCh38)
20:57466850 (GRCh37)
Canonical SPDI:: NC_000020.11:58891794:C:T
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.58891795C>T, NC_000020.10:g.57466850C>T, NG_016194.2:g.57056C>T, NM_000516.7:c.69C>T, NM_000516.6:c.69C>T, NM_000516.5:c.69C>T, NM_000516.4:c.69C>T, NM_001077488.5:c.69C>T, NM_001077488.4:c.69C>T, NM_001077488.3:c.69C>T, NM_001077488.2:c.69C>T, NM_080426.4:c.69C>T, NM_080426.3:c.69C>T, NM_080426.2:c.69C>T, NM_001077489.4:c.69C>T, NM_001077489.3:c.69C>T, NM_001077489.2:c.69C>T, NM_001309842.2:c.69C>T, NM_001309842.1:c.69C>T

Select item 134991427113.

rs1349914271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:58891739 (GRCh38)
20:57466794 (GRCh37)
Canonical SPDI:: NC_000020.11:58891738:G:A,NC_000020.11:58891738:G:C
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58891739G>A, NC_000020.11:g.58891739G>C, NC_000020.10:g.57466794G>A, NC_000020.10:g.57466794G>C, NG_016194.2:g.57000G>A, NG_016194.2:g.57000G>C, NM_000516.7:c.13G>A, NM_000516.7:c.13G>C, NM_000516.6:c.13G>A, NM_000516.6:c.13G>C, NM_000516.5:c.13G>A, NM_000516.5:c.13G>C, NM_000516.4:c.13G>A, NM_000516.4:c.13G>C, NM_001077488.5:c.13G>A, NM_001077488.5:c.13G>C, NM_001077488.4:c.13G>A, NM_001077488.4:c.13G>C, NM_001077488.3:c.13G>A, NM_001077488.3:c.13G>C, NM_001077488.2:c.13G>A, NM_001077488.2:c.13G>C, NM_080426.4:c.13G>A, NM_080426.4:c.13G>C, NM_080426.3:c.13G>A, NM_080426.3:c.13G>C, NM_080426.2:c.13G>A, NM_080426.2:c.13G>C, NM_001077489.4:c.13G>A, NM_001077489.4:c.13G>C, NM_001077489.3:c.13G>A, NM_001077489.3:c.13G>C, NM_001077489.2:c.13G>A, NM_001077489.2:c.13G>C, NM_001309842.2:c.13G>A, NM_001309842.2:c.13G>C, NM_001309842.1:c.13G>A, NM_001309842.1:c.13G>C, NP_000507.1:p.Gly5Arg, NP_000507.1:p.Gly5Arg, NP_001070956.1:p.Gly5Arg, NP_001070956.1:p.Gly5Arg, NP_536351.1:p.Gly5Arg, NP_536351.1:p.Gly5Arg, NP_001070957.1:p.Gly5Arg, NP_001070957.1:p.Gly5Arg, NP_001296771.1:p.Gly5Arg, NP_001296771.1:p.Gly5Arg

Select item 134366509514.

rs1343665095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58895625 (GRCh38)
20:57470680 (GRCh37)
Canonical SPDI:: NC_000020.11:58895624:T:C
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58895625T>C, NC_000020.10:g.57470680T>C, NG_016194.2:g.60886T>C, NM_000516.7:c.153T>C, NM_000516.6:c.153T>C, NM_000516.5:c.153T>C, NM_000516.4:c.153T>C, NM_016592.5:c.*56T>C, NM_016592.4:c.*56T>C, NM_016592.3:c.*56T>C, NM_016592.2:c.*56T>C, NM_001077488.5:c.153T>C, NM_001077488.4:c.153T>C, NM_001077488.3:c.153T>C, NM_001077488.2:c.153T>C, NM_080425.4:c.2082T>C, NM_080425.3:c.2082T>C, NM_080425.2:c.2082T>C, NM_080426.4:c.153T>C, NM_080426.3:c.153T>C, NM_080426.2:c.153T>C, NM_001077489.4:c.153T>C, NM_001077489.3:c.153T>C, NM_001077489.2:c.153T>C, NM_001077490.3:c.*14T>C, NM_001077490.2:c.*14T>C, NM_001077490.1:c.*14T>C, NM_001309861.2:c.-25T>C, NM_001309861.1:c.-25T>C, NM_001309840.2:c.-25T>C, NM_001309840.1:c.-25T>C, NM_001309842.2:c.153T>C, NM_001309842.1:c.153T>C, NR_132272.2:n.61T>C, NR_132272.1:n.60T>C, NM_001309883.1:c.*172T>C, NR_132273.1:n.420T>C, XM_017027812.3:c.2082T>C, XM_017027812.2:c.2082T>C, XM_017027812.1:c.2082T>C, XM_017027813.3:c.2082T>C, XM_017027813.2:c.2082T>C, XM_017027813.1:c.2082T>C, XM_017027814.3:c.2082T>C, XM_017027818.3:c.-25T>C, XM_017027818.2:c.-25T>C, XM_017027818.1:c.-25T>C, XM_024451872.2:c.57T>C, XM_017027815.2:c.57T>C, XM_017027815.1:c.57T>C, XM_024451875.2:c.-25T>C, XM_024451875.1:c.-25T>C, XM_017027817.2:c.-25T>C, XM_017027817.1:c.-25T>C, XM_017027819.2:c.-25T>C, XM_017027819.1:c.-25T>C, XM_024451873.2:c.-25T>C, XM_024451873.1:c.-25T>C, NM_001410913.1:c.2082T>C, XM_047440113.1:c.57T>C, NM_001410912.1:c.57T>C, XM_047440116.1:c.-25T>C, XM_047440121.1:c.-25T>C, XM_047440123.1:c.-25T>C, XM_047440114.1:c.-25T>C, NR_003259.1:n.243T>C, XM_047440122.1:c.-25T>C, XM_047440125.1:c.-25T>C, XM_047440117.1:c.-25T>C, XM_047440118.1:c.-25T>C, XM_047440120.1:c.-25T>C, XM_047440115.1:c.-25T>C, XM_017027820.1:c.-107T>C, XM_047440119.1:c.-25T>C

Select item 134130084015.

rs1341300840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58891846 (GRCh38)
20:57466901 (GRCh37)
Canonical SPDI:: NC_000020.11:58891845:G:A
Gene:: GNAS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000037/5 (GnomAD)
HGVS:: NC_000020.11:g.58891846G>A, NC_000020.10:g.57466901G>A, NG_016194.2:g.57107G>A, NM_000516.7:c.120G>A, NM_000516.6:c.120G>A, NM_000516.5:c.120G>A, NM_000516.4:c.120G>A, NM_001077488.5:c.120G>A, NM_001077488.4:c.120G>A, NM_001077488.3:c.120G>A, NM_001077488.2:c.120G>A, NM_080426.4:c.120G>A, NM_080426.3:c.120G>A, NM_080426.2:c.120G>A, NM_001077489.4:c.120G>A, NM_001077489.3:c.120G>A, NM_001077489.2:c.120G>A, NM_001309842.2:c.120G>A, NM_001309842.1:c.120G>A

Select item 132741771216.

rs1327417712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58898984 (GRCh38)
20:57474039 (GRCh37)
Canonical SPDI:: NC_000020.11:58898983:G:A
Gene:: GNAS (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58898984G>A, NC_000020.10:g.57474039G>A, NG_016194.2:g.64245G>A, NM_000516.7:c.256G>A, NM_000516.6:c.256G>A, NM_000516.5:c.256G>A, NM_000516.4:c.256G>A, NM_016592.5:c.*159G>A, NM_016592.4:c.*159G>A, NM_016592.3:c.*159G>A, NM_016592.2:c.*159G>A, NM_001077488.5:c.256G>A, NM_001077488.4:c.256G>A, NM_001077488.3:c.256G>A, NM_001077488.2:c.256G>A, NM_080425.4:c.2185G>A, NM_080425.3:c.2185G>A, NM_080425.2:c.2185G>A, NM_001077490.3:c.*117G>A, NM_001077490.2:c.*117G>A, NM_001077490.1:c.*117G>A, NM_001309861.2:c.79G>A, NM_001309861.1:c.79G>A, NM_001309840.2:c.79G>A, NM_001309840.1:c.79G>A, NM_001309842.2:c.256G>A, NM_001309842.1:c.256G>A, NR_132272.2:n.164G>A, NR_132272.1:n.163G>A, NM_001309883.1:c.*275G>A, NR_132273.1:n.523G>A, XM_017027812.3:c.2185G>A, XM_017027812.2:c.2185G>A, XM_017027812.1:c.2185G>A, XM_024451872.2:c.160G>A, XM_024451875.2:c.79G>A, XM_024451875.1:c.79G>A, XM_024451873.2:c.79G>A, XM_024451873.1:c.79G>A, XM_047440113.1:c.160G>A, NM_001410912.1:c.160G>A, XM_047440116.1:c.79G>A, XM_047440114.1:c.79G>A, NR_003259.1:n.346G>A, XM_047440125.1:c.79G>A, XM_047440117.1:c.79G>A, XM_047440115.1:c.79G>A, XM_047440124.1:c.-49G>A, NP_000507.1:p.Gly86Ser, NP_001070956.1:p.Gly86Ser, NP_536350.2:p.Gly729Ser, NP_001296790.1:p.Gly27Ser, NP_001296769.1:p.Gly27Ser, NP_001296771.1:p.Gly86Arg, XP_016883301.1:p.Gly729Ser, XP_024307640.1:p.Gly54Ser, XP_024307643.1:p.Gly27Ser, XP_024307641.1:p.Gly27Ser, XP_047296069.1:p.Gly54Ser, XP_047296072.1:p.Gly27Ser, XP_047296070.1:p.Gly27Ser, XP_047296081.1:p.Gly27Ser, XP_047296073.1:p.Gly27Ser, XP_047296071.1:p.Gly27Ser

Select item 132625676217.

rs1326256762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:58891801 (GRCh38)
20:57466856 (GRCh37)
Canonical SPDI:: NC_000020.11:58891800:G:A,NC_000020.11:58891800:G:C
Gene:: GNAS (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000029/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.58891801G>A, NC_000020.11:g.58891801G>C, NC_000020.10:g.57466856G>A, NC_000020.10:g.57466856G>C, NG_016194.2:g.57062G>A, NG_016194.2:g.57062G>C, NM_000516.7:c.75G>A, NM_000516.7:c.75G>C, NM_000516.6:c.75G>A, NM_000516.6:c.75G>C, NM_000516.5:c.75G>A, NM_000516.5:c.75G>C, NM_000516.4:c.75G>A, NM_000516.4:c.75G>C, NM_001077488.5:c.75G>A, NM_001077488.5:c.75G>C, NM_001077488.4:c.75G>A, NM_001077488.4:c.75G>C, NM_001077488.3:c.75G>A, NM_001077488.3:c.75G>C, NM_001077488.2:c.75G>A, NM_001077488.2:c.75G>C, NM_080426.4:c.75G>A, NM_080426.4:c.75G>C, NM_080426.3:c.75G>A, NM_080426.3:c.75G>C, NM_080426.2:c.75G>A, NM_080426.2:c.75G>C, NM_001077489.4:c.75G>A, NM_001077489.4:c.75G>C, NM_001077489.3:c.75G>A, NM_001077489.3:c.75G>C, NM_001077489.2:c.75G>A, NM_001077489.2:c.75G>C, NM_001309842.2:c.75G>A, NM_001309842.2:c.75G>C, NM_001309842.1:c.75G>A, NM_001309842.1:c.75G>C, NP_000507.1:p.Lys25Asn, NP_001070956.1:p.Lys25Asn, NP_536351.1:p.Lys25Asn, NP_001070957.1:p.Lys25Asn, NP_001296771.1:p.Lys25Asn

Select item 132210868218.

rs1322108682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58891780 (GRCh38)
20:57466835 (GRCh37)
Canonical SPDI:: NC_000020.11:58891779:G:A
Gene:: GNAS (Varview)
Functional Consequence:: synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.58891780G>A, NC_000020.10:g.57466835G>A, NG_016194.2:g.57041G>A, NM_000516.7:c.54G>A, NM_000516.6:c.54G>A, NM_000516.5:c.54G>A, NM_000516.4:c.54G>A, NM_001077488.5:c.54G>A, NM_001077488.4:c.54G>A, NM_001077488.3:c.54G>A, NM_001077488.2:c.54G>A, NM_080426.4:c.54G>A, NM_080426.3:c.54G>A, NM_080426.2:c.54G>A, NM_001077489.4:c.54G>A, NM_001077489.3:c.54G>A, NM_001077489.2:c.54G>A, NM_001309842.2:c.54G>A, NM_001309842.1:c.54G>A

Select item 127781538619.

rs1277815386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:58891852 (GRCh38)
20:57466907 (GRCh37)
Canonical SPDI:: NC_000020.11:58891851:C:G,NC_000020.11:58891851:C:T
Gene:: GNAS (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58891852C>G, NC_000020.11:g.58891852C>T, NC_000020.10:g.57466907C>G, NC_000020.10:g.57466907C>T, NG_016194.2:g.57113C>G, NG_016194.2:g.57113C>T, NM_000516.7:c.126C>G, NM_000516.7:c.126C>T, NM_000516.6:c.126C>G, NM_000516.6:c.126C>T, NM_000516.5:c.126C>G, NM_000516.5:c.126C>T, NM_000516.4:c.126C>G, NM_000516.4:c.126C>T, NM_001077488.5:c.126C>G, NM_001077488.5:c.126C>T, NM_001077488.4:c.126C>G, NM_001077488.4:c.126C>T, NM_001077488.3:c.126C>G, NM_001077488.3:c.126C>T, NM_001077488.2:c.126C>G, NM_001077488.2:c.126C>T, NM_080426.4:c.126C>G, NM_080426.4:c.126C>T, NM_080426.3:c.126C>G, NM_080426.3:c.126C>T, NM_080426.2:c.126C>G, NM_080426.2:c.126C>T, NM_001077489.4:c.126C>G, NM_001077489.4:c.126C>T, NM_001077489.3:c.126C>G, NM_001077489.3:c.126C>T, NM_001077489.2:c.126C>G, NM_001077489.2:c.126C>T, NM_001309842.2:c.126C>G, NM_001309842.2:c.126C>T, NM_001309842.1:c.126C>G, NM_001309842.1:c.126C>T

Select item 125522603420.

rs1255226034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:58891823 (GRCh38)
20:57466878 (GRCh37)
Canonical SPDI:: NC_000020.11:58891822:G:T
Gene:: GNAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000020.11:g.58891823G>T, NC_000020.10:g.57466878G>T, NG_016194.2:g.57084G>T, NM_000516.7:c.97G>T, NM_000516.6:c.97G>T, NM_000516.5:c.97G>T, NM_000516.4:c.97G>T, NM_001077488.5:c.97G>T, NM_001077488.4:c.97G>T, NM_001077488.3:c.97G>T, NM_001077488.2:c.97G>T, NM_080426.4:c.97G>T, NM_080426.3:c.97G>T, NM_080426.2:c.97G>T, NM_001077489.4:c.97G>T, NM_001077489.3:c.97G>T, NM_001077489.2:c.97G>T, NM_001309842.2:c.97G>T, NM_001309842.1:c.97G>T, NP_000507.1:p.Asp33Tyr, NP_001070956.1:p.Asp33Tyr, NP_536351.1:p.Asp33Tyr, NP_001070957.1:p.Asp33Tyr, NP_001296771.1:p.Asp33Tyr

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