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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1392104976

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:58905385 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/251480, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GNAS : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251480 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135402 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 49010 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 34592 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 G=0.0000
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 20 NC_000020.11:g.58905385A>C
GRCh38.p14 chr 20 NC_000020.11:g.58905385A>G
GRCh38.p14 chr 20 NC_000020.11:g.58905385A>T
GRCh37.p13 chr 20 NC_000020.10:g.57480440A>C
GRCh37.p13 chr 20 NC_000020.10:g.57480440A>G
GRCh37.p13 chr 20 NC_000020.10:g.57480440A>T
GNAS RefSeqGene NG_016194.2:g.70646A>C
GNAS RefSeqGene NG_016194.2:g.70646A>G
GNAS RefSeqGene NG_016194.2:g.70646A>T
Gene: GNAS, GNAS complex locus (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GNAS transcript variant 4 NM_016592.5:c.*341= N/A 3 Prime UTR Variant
GNAS transcript variant 2 NM_001077490.3:c.*296= N/A 3 Prime UTR Variant
GNAS transcript variant 10 NM_001309842.2:c. N/A Genic Downstream Transcript Variant
GNAS transcript variant 12 NM_001309883.1:c. N/A Genic Downstream Transcript Variant
GNAS transcript variant 11 NM_001309861.2:c.258A>C E [GAA] > D [GAC] Coding Sequence Variant
protein ALEX isoform h NP_001296790.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 11 NM_001309861.2:c.258A>G E [GAA] > E [GAG] Coding Sequence Variant
protein ALEX isoform h NP_001296790.1:p.Glu86= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 11 NM_001309861.2:c.258A>T E [GAA] > D [GAT] Coding Sequence Variant
protein ALEX isoform h NP_001296790.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 3 NM_080426.4:c.393A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform GNASS NP_536351.1:p.Glu131Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 3 NM_080426.4:c.393A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform GNASS NP_536351.1:p.Glu131= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 3 NM_080426.4:c.393A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform GNASS NP_536351.1:p.Glu131Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 9 NM_001309840.2:c.258A>C E [GAA] > D [GAC] Coding Sequence Variant
protein ALEX isoform h NP_001296769.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 9 NM_001309840.2:c.258A>G E [GAA] > E [GAG] Coding Sequence Variant
protein ALEX isoform h NP_001296769.1:p.Glu86= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 9 NM_001309840.2:c.258A>T E [GAA] > D [GAT] Coding Sequence Variant
protein ALEX isoform h NP_001296769.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 7 NM_001077489.4:c.390A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform g NP_001070957.1:p.Glu130Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 7 NM_001077489.4:c.390A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform g NP_001070957.1:p.Glu130= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 7 NM_001077489.4:c.390A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform g NP_001070957.1:p.Glu130Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 6 NM_001077488.5:c.438A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform f NP_001070956.1:p.Glu146Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 6 NM_001077488.5:c.438A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform f NP_001070956.1:p.Glu146= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 6 NM_001077488.5:c.438A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform f NP_001070956.1:p.Glu146Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 1 NM_000516.7:c.435A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform GNASL NP_000507.1:p.Glu145Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 1 NM_000516.7:c.435A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform GNASL NP_000507.1:p.Glu145= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 1 NM_000516.7:c.435A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform GNASL NP_000507.1:p.Glu145Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 2 NM_080425.4:c.2364A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform XLas NP_536350.2:p.Glu788Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 2 NM_080425.4:c.2364A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform XLas NP_536350.2:p.Glu788= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant 2 NM_080425.4:c.2364A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform XLas NP_536350.2:p.Glu788Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant 13 NR_132272.2:n. N/A Genic Downstream Transcript Variant
GNAS transcript variant 14 NR_132273.1:n. N/A Genic Downstream Transcript Variant
GNAS transcript variant X18 XM_017027820.1:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X9 XP_016883309.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X18 XM_017027820.1:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X9 XP_016883309.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X18 XM_017027820.1:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X9 XP_016883309.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X1 XM_017027812.3:c.2367A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X1 XP_016883301.1:p.Glu789Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X1 XM_017027812.3:c.2367A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X1 XP_016883301.1:p.Glu789= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X1 XM_017027812.3:c.2367A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X1 XP_016883301.1:p.Glu789Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X2 XM_017027813.3:c.2322A>C E [GAA] > D [GAC] Coding Sequence Variant
protein ALEX isoform X2 XP_016883302.1:p.Glu774Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X2 XM_017027813.3:c.2322A>G E [GAA] > E [GAG] Coding Sequence Variant
protein ALEX isoform X2 XP_016883302.1:p.Glu774= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X2 XM_017027813.3:c.2322A>T E [GAA] > D [GAT] Coding Sequence Variant
protein ALEX isoform X2 XP_016883302.1:p.Glu774Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X3 XM_017027814.3:c.2319A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X3 XP_016883303.1:p.Glu773Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X3 XM_017027814.3:c.2319A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X3 XP_016883303.1:p.Glu773= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X3 XM_017027814.3:c.2319A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X3 XP_016883303.1:p.Glu773Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X3 XM_047440113.1:c.342A>C E [GAA] > D [GAC] Coding Sequence Variant
protein ALEX isoform X3 XP_047296069.1:p.Glu114Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X3 XM_047440113.1:c.342A>G E [GAA] > E [GAG] Coding Sequence Variant
protein ALEX isoform X3 XP_047296069.1:p.Glu114= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X3 XM_047440113.1:c.342A>T E [GAA] > D [GAT] Coding Sequence Variant
protein ALEX isoform X3 XP_047296069.1:p.Glu114Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X5 XM_024451872.2:c.339A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_024307640.1:p.Glu113Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X5 XM_024451872.2:c.339A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_024307640.1:p.Glu113= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X5 XM_024451872.2:c.339A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_024307640.1:p.Glu113Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X4 XM_017027815.2:c.294A>C E [GAA] > D [GAC] Coding Sequence Variant
protein ALEX isoform X4 XP_016883304.1:p.Glu98Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X4 XM_017027815.2:c.294A>G E [GAA] > E [GAG] Coding Sequence Variant
protein ALEX isoform X4 XP_016883304.1:p.Glu98= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X4 XM_017027815.2:c.294A>T E [GAA] > D [GAT] Coding Sequence Variant
protein ALEX isoform X4 XP_016883304.1:p.Glu98Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X5 XM_047440114.1:c.261A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_047296070.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X5 XM_047440114.1:c.261A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_047296070.1:p.Glu87= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X5 XM_047440114.1:c.261A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_047296070.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X6 XM_047440115.1:c.261A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_047296071.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X6 XM_047440115.1:c.261A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_047296071.1:p.Glu87= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X6 XM_047440115.1:c.261A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_047296071.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X7 XM_047440116.1:c.261A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_047296072.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X7 XM_047440116.1:c.261A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_047296072.1:p.Glu87= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X7 XM_047440116.1:c.261A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_047296072.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X8 XM_047440117.1:c.261A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_047296073.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X8 XM_047440117.1:c.261A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_047296073.1:p.Glu87= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X8 XM_047440117.1:c.261A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_047296073.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X9 XM_024451875.2:c.258A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X6 XP_024307643.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X9 XM_024451875.2:c.258A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X6 XP_024307643.1:p.Glu86= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X9 XM_024451875.2:c.258A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X6 XP_024307643.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X10 XM_024451873.2:c.258A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X6 XP_024307641.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X10 XM_024451873.2:c.258A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X6 XP_024307641.1:p.Glu86= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X10 XM_024451873.2:c.258A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X6 XP_024307641.1:p.Glu86Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X11 XM_047440118.1:c.216A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X7 XP_047296074.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X11 XM_047440118.1:c.216A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X7 XP_047296074.1:p.Glu72= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X11 XM_047440118.1:c.216A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X7 XP_047296074.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X12 XM_047440119.1:c.216A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X7 XP_047296075.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X12 XM_047440119.1:c.216A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X7 XP_047296075.1:p.Glu72= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X12 XM_047440119.1:c.216A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X7 XP_047296075.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X13 XM_047440120.1:c.216A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X7 XP_047296076.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X13 XM_047440120.1:c.216A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X7 XP_047296076.1:p.Glu72= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X13 XM_047440120.1:c.216A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X7 XP_047296076.1:p.Glu72Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X14 XM_017027817.2:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_016883306.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X14 XM_017027817.2:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_016883306.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X14 XM_017027817.2:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_016883306.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X15 XM_017027818.3:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_016883307.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X15 XM_017027818.3:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_016883307.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X15 XM_017027818.3:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_016883307.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X16 XM_047440121.1:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_047296077.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X16 XM_047440121.1:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_047296077.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X16 XM_047440121.1:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_047296077.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X17 XM_017027819.2:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_016883308.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X17 XM_017027819.2:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_016883308.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X17 XM_017027819.2:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_016883308.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X19 XM_047440122.1:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_047296078.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X19 XM_047440122.1:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_047296078.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X19 XM_047440122.1:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_047296078.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X20 XM_047440123.1:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X8 XP_047296079.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X20 XM_047440123.1:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X8 XP_047296079.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X20 XM_047440123.1:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X8 XP_047296079.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X21 XM_047440124.1:c.213A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X9 XP_047296080.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X21 XM_047440124.1:c.213A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X9 XP_047296080.1:p.Glu71= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X21 XM_047440124.1:c.213A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X9 XP_047296080.1:p.Glu71Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X22 XM_047440125.1:c.261A>C E [GAA] > D [GAC] Coding Sequence Variant
protein GNAS isoform X5 XP_047296081.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
GNAS transcript variant X22 XM_047440125.1:c.261A>G E [GAA] > E [GAG] Coding Sequence Variant
protein GNAS isoform X5 XP_047296081.1:p.Glu87= E (Glu) > E (Glu) Synonymous Variant
GNAS transcript variant X22 XM_047440125.1:c.261A>T E [GAA] > D [GAT] Coding Sequence Variant
protein GNAS isoform X5 XP_047296081.1:p.Glu87Asp E (Glu) > D (Asp) Missense Variant
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Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T
GRCh38.p14 chr 20 NC_000020.11:g.58905385= NC_000020.11:g.58905385A>C NC_000020.11:g.58905385A>G NC_000020.11:g.58905385A>T
GRCh37.p13 chr 20 NC_000020.10:g.57480440= NC_000020.10:g.57480440A>C NC_000020.10:g.57480440A>G NC_000020.10:g.57480440A>T
GNAS RefSeqGene NG_016194.2:g.70646= NG_016194.2:g.70646A>C NG_016194.2:g.70646A>G NG_016194.2:g.70646A>T
GNAS transcript variant 1 NM_000516.7:c.435= NM_000516.7:c.435A>C NM_000516.7:c.435A>G NM_000516.7:c.435A>T
GNAS transcript variant 1 NM_000516.6:c.435= NM_000516.6:c.435A>C NM_000516.6:c.435A>G NM_000516.6:c.435A>T
GNAS transcript variant 1 NM_000516.5:c.435= NM_000516.5:c.435A>C NM_000516.5:c.435A>G NM_000516.5:c.435A>T
GNAS transcript variant 1 NM_000516.4:c.435= NM_000516.4:c.435A>C NM_000516.4:c.435A>G NM_000516.4:c.435A>T
GNAS transcript variant 4 NM_016592.5:c.*341= NM_016592.5:c.*341A>C NM_016592.5:c.*341A>G NM_016592.5:c.*341A>T
GNAS transcript variant 4 NM_016592.4:c.*341= NM_016592.4:c.*341A>C NM_016592.4:c.*341A>G NM_016592.4:c.*341A>T
GNAS transcript variant 4 NM_016592.3:c.*341= NM_016592.3:c.*341A>C NM_016592.3:c.*341A>G NM_016592.3:c.*341A>T
GNAS transcript variant 4 NM_016592.2:c.*341= NM_016592.2:c.*341A>C NM_016592.2:c.*341A>G NM_016592.2:c.*341A>T
GNAS transcript variant 6 NM_001077488.5:c.438= NM_001077488.5:c.438A>C NM_001077488.5:c.438A>G NM_001077488.5:c.438A>T
GNAS transcript variant 6 NM_001077488.4:c.438= NM_001077488.4:c.438A>C NM_001077488.4:c.438A>G NM_001077488.4:c.438A>T
GNAS transcript variant 6 NM_001077488.3:c.438= NM_001077488.3:c.438A>C NM_001077488.3:c.438A>G NM_001077488.3:c.438A>T
GNAS transcript variant 6 NM_001077488.2:c.438= NM_001077488.2:c.438A>C NM_001077488.2:c.438A>G NM_001077488.2:c.438A>T
GNAS transcript variant 2 NM_080425.4:c.2364= NM_080425.4:c.2364A>C NM_080425.4:c.2364A>G NM_080425.4:c.2364A>T
GNAS transcript variant 2 NM_080425.3:c.2364= NM_080425.3:c.2364A>C NM_080425.3:c.2364A>G NM_080425.3:c.2364A>T
GNAS transcript variant 2 NM_080425.2:c.2364= NM_080425.2:c.2364A>C NM_080425.2:c.2364A>G NM_080425.2:c.2364A>T
GNAS transcript variant 3 NM_080426.4:c.393= NM_080426.4:c.393A>C NM_080426.4:c.393A>G NM_080426.4:c.393A>T
GNAS transcript variant 3 NM_080426.3:c.393= NM_080426.3:c.393A>C NM_080426.3:c.393A>G NM_080426.3:c.393A>T
GNAS transcript variant 3 NM_080426.2:c.393= NM_080426.2:c.393A>C NM_080426.2:c.393A>G NM_080426.2:c.393A>T
GNAS transcript variant 7 NM_001077489.4:c.390= NM_001077489.4:c.390A>C NM_001077489.4:c.390A>G NM_001077489.4:c.390A>T
GNAS transcript variant 7 NM_001077489.3:c.390= NM_001077489.3:c.390A>C NM_001077489.3:c.390A>G NM_001077489.3:c.390A>T
GNAS transcript variant 7 NM_001077489.2:c.390= NM_001077489.2:c.390A>C NM_001077489.2:c.390A>G NM_001077489.2:c.390A>T
GNAS transcript variant 2 NM_001077490.3:c.*296= NM_001077490.3:c.*296A>C NM_001077490.3:c.*296A>G NM_001077490.3:c.*296A>T
GNAS transcript variant 2 NM_001077490.2:c.*296= NM_001077490.2:c.*296A>C NM_001077490.2:c.*296A>G NM_001077490.2:c.*296A>T
GNAS transcript variant 2 NM_001077490.1:c.*296= NM_001077490.1:c.*296A>C NM_001077490.1:c.*296A>G NM_001077490.1:c.*296A>T
GNAS transcript variant 11 NM_001309861.2:c.258= NM_001309861.2:c.258A>C NM_001309861.2:c.258A>G NM_001309861.2:c.258A>T
GNAS transcript variant 11 NM_001309861.1:c.258= NM_001309861.1:c.258A>C NM_001309861.1:c.258A>G NM_001309861.1:c.258A>T
GNAS transcript variant 9 NM_001309840.2:c.258= NM_001309840.2:c.258A>C NM_001309840.2:c.258A>G NM_001309840.2:c.258A>T
GNAS transcript variant 9 NM_001309840.1:c.258= NM_001309840.1:c.258A>C NM_001309840.1:c.258A>G NM_001309840.1:c.258A>T
GNAS transcript variant X1 XM_017027812.3:c.2367= XM_017027812.3:c.2367A>C XM_017027812.3:c.2367A>G XM_017027812.3:c.2367A>T
GNAS transcript variant X1 XM_017027812.2:c.2367= XM_017027812.2:c.2367A>C XM_017027812.2:c.2367A>G XM_017027812.2:c.2367A>T
GNAS transcript variant X1 XM_017027812.1:c.2367= XM_017027812.1:c.2367A>C XM_017027812.1:c.2367A>G XM_017027812.1:c.2367A>T
GNAS transcript variant X2 XM_017027813.3:c.2322= XM_017027813.3:c.2322A>C XM_017027813.3:c.2322A>G XM_017027813.3:c.2322A>T
GNAS transcript variant X2 XM_017027813.2:c.2322= XM_017027813.2:c.2322A>C XM_017027813.2:c.2322A>G XM_017027813.2:c.2322A>T
GNAS transcript variant X2 XM_017027813.1:c.2322= XM_017027813.1:c.2322A>C XM_017027813.1:c.2322A>G XM_017027813.1:c.2322A>T
GNAS transcript variant X3 XM_017027814.3:c.2319= XM_017027814.3:c.2319A>C XM_017027814.3:c.2319A>G XM_017027814.3:c.2319A>T
GNAS transcript variant X15 XM_017027818.3:c.213= XM_017027818.3:c.213A>C XM_017027818.3:c.213A>G XM_017027818.3:c.213A>T
GNAS transcript variant X11 XM_017027818.2:c.213= XM_017027818.2:c.213A>C XM_017027818.2:c.213A>G XM_017027818.2:c.213A>T
GNAS transcript variant X7 XM_017027818.1:c.213= XM_017027818.1:c.213A>C XM_017027818.1:c.213A>G XM_017027818.1:c.213A>T
GNAS transcript variant X5 XM_024451872.2:c.339= XM_024451872.2:c.339A>C XM_024451872.2:c.339A>G XM_024451872.2:c.339A>T
GNAS transcript variant X4 XM_017027815.2:c.294= XM_017027815.2:c.294A>C XM_017027815.2:c.294A>G XM_017027815.2:c.294A>T
GNAS transcript variant X5 XM_017027815.1:c.294= XM_017027815.1:c.294A>C XM_017027815.1:c.294A>G XM_017027815.1:c.294A>T
GNAS transcript variant X9 XM_024451875.2:c.258= XM_024451875.2:c.258A>C XM_024451875.2:c.258A>G XM_024451875.2:c.258A>T
GNAS transcript variant X8 XM_024451875.1:c.258= XM_024451875.1:c.258A>C XM_024451875.1:c.258A>G XM_024451875.1:c.258A>T
GNAS transcript variant X14 XM_017027817.2:c.213= XM_017027817.2:c.213A>C XM_017027817.2:c.213A>G XM_017027817.2:c.213A>T
GNAS transcript variant X10 XM_017027817.1:c.213= XM_017027817.1:c.213A>C XM_017027817.1:c.213A>G XM_017027817.1:c.213A>T
GNAS transcript variant X17 XM_017027819.2:c.213= XM_017027819.2:c.213A>C XM_017027819.2:c.213A>G XM_017027819.2:c.213A>T
GNAS transcript variant X12 XM_017027819.1:c.213= XM_017027819.1:c.213A>C XM_017027819.1:c.213A>G XM_017027819.1:c.213A>T
GNAS transcript variant X10 XM_024451873.2:c.258= XM_024451873.2:c.258A>C XM_024451873.2:c.258A>G XM_024451873.2:c.258A>T
GNAS transcript variant X6 XM_024451873.1:c.258= XM_024451873.1:c.258A>C XM_024451873.1:c.258A>G XM_024451873.1:c.258A>T
GNAS transcript variant 16 NM_001410913.1:c.2319= NM_001410913.1:c.2319A>C NM_001410913.1:c.2319A>G NM_001410913.1:c.2319A>T
GNAS transcript variant X3 XM_047440113.1:c.342= XM_047440113.1:c.342A>C XM_047440113.1:c.342A>G XM_047440113.1:c.342A>T
GNAS transcript variant 15 NM_001410912.1:c.339= NM_001410912.1:c.339A>C NM_001410912.1:c.339A>G NM_001410912.1:c.339A>T
GNAS transcript variant X7 XM_047440116.1:c.261= XM_047440116.1:c.261A>C XM_047440116.1:c.261A>G XM_047440116.1:c.261A>T
GNAS transcript variant X16 XM_047440121.1:c.213= XM_047440121.1:c.213A>C XM_047440121.1:c.213A>G XM_047440121.1:c.213A>T
GNAS transcript variant X20 XM_047440123.1:c.213= XM_047440123.1:c.213A>C XM_047440123.1:c.213A>G XM_047440123.1:c.213A>T
GNAS transcript variant X5 XM_047440114.1:c.261= XM_047440114.1:c.261A>C XM_047440114.1:c.261A>G XM_047440114.1:c.261A>T
GNAS transcript variant 8 NR_003259.1:n.525= NR_003259.1:n.525A>C NR_003259.1:n.525A>G NR_003259.1:n.525A>T
GNAS transcript variant X19 XM_047440122.1:c.213= XM_047440122.1:c.213A>C XM_047440122.1:c.213A>G XM_047440122.1:c.213A>T
GNAS transcript variant X22 XM_047440125.1:c.261= XM_047440125.1:c.261A>C XM_047440125.1:c.261A>G XM_047440125.1:c.261A>T
GNAS transcript variant X8 XM_047440117.1:c.261= XM_047440117.1:c.261A>C XM_047440117.1:c.261A>G XM_047440117.1:c.261A>T
GNAS transcript variant X11 XM_047440118.1:c.216= XM_047440118.1:c.216A>C XM_047440118.1:c.216A>G XM_047440118.1:c.216A>T
GNAS transcript variant X13 XM_047440120.1:c.216= XM_047440120.1:c.216A>C XM_047440120.1:c.216A>G XM_047440120.1:c.216A>T
GNAS transcript variant X6 XM_047440115.1:c.261= XM_047440115.1:c.261A>C XM_047440115.1:c.261A>G XM_047440115.1:c.261A>T
GNAS transcript variant X18 XM_017027820.1:c.213= XM_017027820.1:c.213A>C XM_017027820.1:c.213A>G XM_017027820.1:c.213A>T
GNAS transcript variant X21 XM_047440124.1:c.213= XM_047440124.1:c.213A>C XM_047440124.1:c.213A>G XM_047440124.1:c.213A>T
GNAS transcript variant X12 XM_047440119.1:c.216= XM_047440119.1:c.216A>C XM_047440119.1:c.216A>G XM_047440119.1:c.216A>T
protein GNAS isoform GNASL NP_000507.1:p.Glu145= NP_000507.1:p.Glu145Asp NP_000507.1:p.Glu145= NP_000507.1:p.Glu145Asp
protein GNAS isoform f NP_001070956.1:p.Glu146= NP_001070956.1:p.Glu146Asp NP_001070956.1:p.Glu146= NP_001070956.1:p.Glu146Asp
protein GNAS isoform XLas NP_536350.2:p.Glu788= NP_536350.2:p.Glu788Asp NP_536350.2:p.Glu788= NP_536350.2:p.Glu788Asp
protein GNAS isoform GNASS NP_536351.1:p.Glu131= NP_536351.1:p.Glu131Asp NP_536351.1:p.Glu131= NP_536351.1:p.Glu131Asp
protein GNAS isoform g NP_001070957.1:p.Glu130= NP_001070957.1:p.Glu130Asp NP_001070957.1:p.Glu130= NP_001070957.1:p.Glu130Asp
protein ALEX isoform h NP_001296790.1:p.Glu86= NP_001296790.1:p.Glu86Asp NP_001296790.1:p.Glu86= NP_001296790.1:p.Glu86Asp
protein ALEX isoform h NP_001296769.1:p.Glu86= NP_001296769.1:p.Glu86Asp NP_001296769.1:p.Glu86= NP_001296769.1:p.Glu86Asp
protein GNAS isoform X1 XP_016883301.1:p.Glu789= XP_016883301.1:p.Glu789Asp XP_016883301.1:p.Glu789= XP_016883301.1:p.Glu789Asp
protein ALEX isoform X2 XP_016883302.1:p.Glu774= XP_016883302.1:p.Glu774Asp XP_016883302.1:p.Glu774= XP_016883302.1:p.Glu774Asp
protein GNAS isoform X3 XP_016883303.1:p.Glu773= XP_016883303.1:p.Glu773Asp XP_016883303.1:p.Glu773= XP_016883303.1:p.Glu773Asp
protein GNAS isoform X8 XP_016883307.1:p.Glu71= XP_016883307.1:p.Glu71Asp XP_016883307.1:p.Glu71= XP_016883307.1:p.Glu71Asp
protein GNAS isoform X5 XP_024307640.1:p.Glu113= XP_024307640.1:p.Glu113Asp XP_024307640.1:p.Glu113= XP_024307640.1:p.Glu113Asp
protein ALEX isoform X4 XP_016883304.1:p.Glu98= XP_016883304.1:p.Glu98Asp XP_016883304.1:p.Glu98= XP_016883304.1:p.Glu98Asp
protein GNAS isoform X6 XP_024307643.1:p.Glu86= XP_024307643.1:p.Glu86Asp XP_024307643.1:p.Glu86= XP_024307643.1:p.Glu86Asp
protein GNAS isoform X8 XP_016883306.1:p.Glu71= XP_016883306.1:p.Glu71Asp XP_016883306.1:p.Glu71= XP_016883306.1:p.Glu71Asp
protein GNAS isoform X8 XP_016883308.1:p.Glu71= XP_016883308.1:p.Glu71Asp XP_016883308.1:p.Glu71= XP_016883308.1:p.Glu71Asp
protein GNAS isoform X6 XP_024307641.1:p.Glu86= XP_024307641.1:p.Glu86Asp XP_024307641.1:p.Glu86= XP_024307641.1:p.Glu86Asp
protein ALEX isoform X3 XP_047296069.1:p.Glu114= XP_047296069.1:p.Glu114Asp XP_047296069.1:p.Glu114= XP_047296069.1:p.Glu114Asp
protein GNAS isoform X5 XP_047296072.1:p.Glu87= XP_047296072.1:p.Glu87Asp XP_047296072.1:p.Glu87= XP_047296072.1:p.Glu87Asp
protein GNAS isoform X8 XP_047296077.1:p.Glu71= XP_047296077.1:p.Glu71Asp XP_047296077.1:p.Glu71= XP_047296077.1:p.Glu71Asp
protein GNAS isoform X8 XP_047296079.1:p.Glu71= XP_047296079.1:p.Glu71Asp XP_047296079.1:p.Glu71= XP_047296079.1:p.Glu71Asp
protein GNAS isoform X5 XP_047296070.1:p.Glu87= XP_047296070.1:p.Glu87Asp XP_047296070.1:p.Glu87= XP_047296070.1:p.Glu87Asp
protein GNAS isoform X8 XP_047296078.1:p.Glu71= XP_047296078.1:p.Glu71Asp XP_047296078.1:p.Glu71= XP_047296078.1:p.Glu71Asp
protein GNAS isoform X5 XP_047296081.1:p.Glu87= XP_047296081.1:p.Glu87Asp XP_047296081.1:p.Glu87= XP_047296081.1:p.Glu87Asp
protein GNAS isoform X5 XP_047296073.1:p.Glu87= XP_047296073.1:p.Glu87Asp XP_047296073.1:p.Glu87= XP_047296073.1:p.Glu87Asp
protein GNAS isoform X7 XP_047296074.1:p.Glu72= XP_047296074.1:p.Glu72Asp XP_047296074.1:p.Glu72= XP_047296074.1:p.Glu72Asp
protein GNAS isoform X7 XP_047296076.1:p.Glu72= XP_047296076.1:p.Glu72Asp XP_047296076.1:p.Glu72= XP_047296076.1:p.Glu72Asp
protein GNAS isoform X5 XP_047296071.1:p.Glu87= XP_047296071.1:p.Glu87Asp XP_047296071.1:p.Glu87= XP_047296071.1:p.Glu87Asp
protein GNAS isoform X9 XP_016883309.1:p.Glu71= XP_016883309.1:p.Glu71Asp XP_016883309.1:p.Glu71= XP_016883309.1:p.Glu71Asp
protein GNAS isoform X9 XP_047296080.1:p.Glu71= XP_047296080.1:p.Glu71Asp XP_047296080.1:p.Glu71= XP_047296080.1:p.Glu71Asp
protein GNAS isoform X7 XP_047296075.1:p.Glu72= XP_047296075.1:p.Glu72Asp XP_047296075.1:p.Glu72= XP_047296075.1:p.Glu72Asp
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2744703765 Nov 08, 2017 (151)
2 EVA ss5936430567 Oct 16, 2022 (156)
3 gnomAD - Exomes NC_000020.10 - 57480440 Jul 13, 2019 (153)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5936430567 NC_000020.10:57480439:A:C NC_000020.11:58905384:A:C
14027922, ss2744703765 NC_000020.10:57480439:A:G NC_000020.11:58905384:A:G (self)
ss5936430567 NC_000020.10:57480439:A:T NC_000020.11:58905384:A:T
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1392104976

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d