dbSNP Short Genetic Variations
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.
rs768764962
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:29286985 (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
- G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000087 (23/264690, TOPMED)C=0.000008 (2/251182, GnomAD_exome)C=0.000086 (12/139854, GnomAD) (+ 2 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- EWSR1 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14050 | G=0.99979 | C=0.00021 |
| European | Sub | 9690 | G=1.0000 | C=0.0000 |
| African | Sub | 2898 | G=0.9990 | C=0.0010 |
| African Others | Sub | 114 | G=1.000 | C=0.000 |
| African American | Sub | 2784 | G=0.9989 | C=0.0011 |
| Asian | Sub | 112 | G=1.000 | C=0.000 |
| East Asian | Sub | 86 | G=1.00 | C=0.00 |
| Other Asian | Sub | 26 | G=1.00 | C=0.00 |
| Latin American 1 | Sub | 146 | G=1.000 | C=0.000 |
| Latin American 2 | Sub | 610 | G=1.000 | C=0.000 |
| South Asian | Sub | 98 | G=1.00 | C=0.00 |
| Other | Sub | 496 | G=1.000 | C=0.000 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999913 | C=0.000087 |
| gnomAD - Exomes | Global | Study-wide | 251182 | G=0.999992 | C=0.000008 |
| gnomAD - Exomes | European | Sub | 135112 | G=1.000000 | C=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49010 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34592 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | G=0.99988 | C=0.00012 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6132 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 139854 | G=0.999914 | C=0.000086 |
| gnomAD - Genomes | European | Sub | 75794 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | African | Sub | 41870 | G=0.99971 | C=0.00029 |
| gnomAD - Genomes | American | Sub | 13600 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3122 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | Other | Sub | 2146 | G=1.0000 | C=0.0000 |
| ExAC | Global | Study-wide | 121402 | G=0.999992 | C=0.000008 |
| ExAC | Europe | Sub | 73346 | G=1.00000 | C=0.00000 |
| ExAC | Asian | Sub | 25166 | G=1.00000 | C=0.00000 |
| ExAC | American | Sub | 11576 | G=1.00000 | C=0.00000 |
| ExAC | African | Sub | 10406 | G=0.99990 | C=0.00010 |
| ExAC | Other | Sub | 908 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=0.99979 | C=0.00021 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=0.9990 | C=0.0010 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | C=0.00 |
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 22 | NC_000022.11:g.29286985G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.29682974G>C |
| EWSR1 RefSeqGene | NG_023240.1:g.23977G>C |
Gene: EWSR1, EWS RNA binding protein 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| EWSR1 transcript variant 2 | NM_005243.4:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform 2 | NP_005234.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant 3 | NM_001163285.2:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform 3 | NP_001156757.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant 4 | NM_001163286.2:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform 4 | NP_001156758.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant 1 | NM_013986.4:c.662G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform 1 | NP_053733.2:p.Gly221Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant 5 | NM_001163287.2:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform 5 | NP_001156759.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X1 | XM_011529995.4:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X1 | XP_011528297.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X2 | XM_005261389.5:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X2 | XP_005261446.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X3 | XM_011529996.4:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X3 | XP_011528298.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X4 | XM_017028644.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X4 | XP_016884133.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X5 | XM_011529997.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X5 | XP_011528299.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X6 | XM_011529998.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X6 | XP_011528300.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X7 | XM_011529999.4:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X7 | XP_011528301.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X8 | XM_017028645.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X8 | XP_016884134.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X9 | XM_017028646.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X9 | XP_016884135.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X10 | XM_017028647.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X10 | XP_016884136.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X11 | XM_011530000.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X11 | XP_011528302.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X12 | XM_047441186.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X12 | XP_047297142.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X13 | XM_047441187.1:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X13 | XP_047297143.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X14 | XM_017028648.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X14 | XP_016884137.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X15 | XM_017028649.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X15 | XP_016884138.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X16 | XM_047441188.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X16 | XP_047297144.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X17 | XM_047441189.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X17 | XP_047297145.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X18 | XM_017028650.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X18 | XP_016884139.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X19 | XM_017028651.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X19 | XP_016884140.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X20 | XM_017028652.3:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X20 | XP_016884141.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X21 | XM_017028653.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X21 | XP_016884142.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X22 | XM_011530001.3:c.479G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X22 | XP_011528303.1:p.Gly160Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X23 | XM_005261390.5:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X23 | XP_005261447.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X24 | XM_017028654.2:c.479G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X24 | XP_016884143.1:p.Gly160Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X25 | XM_017028655.2:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X25 | XP_016884144.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X26 | XM_047441190.1:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X26 | XP_047297146.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X27 | XM_017028656.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X27 | XP_016884145.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X28 | XM_047441191.1:c.479G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X28 | XP_047297147.1:p.Gly160Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X29 | XM_017028658.2:c.479G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X29 | XP_016884147.1:p.Gly160Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X30 | XM_017028659.2:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X30 | XP_016884148.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X31 | XM_047441192.1:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X31 | XP_047297148.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X32 | XM_017028660.3:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X32 | XP_016884149.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X33 | XM_011530002.4:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X33 | XP_011528304.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X34 | XM_047441193.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X34 | XP_047297149.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X35 | XM_047441194.1:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X35 | XP_047297150.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X36 | XM_047441195.1:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X36 | XP_047297151.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X37 | XM_047441196.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X37 | XP_047297152.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X38 | XM_047441197.1:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X38 | XP_047297153.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X39 | XM_017028662.3:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X39 | XP_016884151.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X40 | XM_024452180.2:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X40 | XP_024307948.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X41 | XM_047441198.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X41 | XP_047297154.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X42 | XM_024452181.2:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X42 | XP_024307949.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X43 | XM_017028663.2:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X43 | XP_016884152.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X44 | XM_047441199.1:c.647G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X44 | XP_047297155.1:p.Gly216Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X45 | XM_047441200.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X45 | XP_047297156.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X46 | XM_047441201.1:c.476G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X46 | XP_047297157.1:p.Gly159Ala | G (Gly) > A (Ala) | Missense Variant |
| EWSR1 transcript variant X47 | XM_047441202.1:c.644G>C | G [GGG] > A [GCG] | Coding Sequence Variant |
| RNA-binding protein EWS isoform X47 | XP_047297158.1:p.Gly215Ala | G (Gly) > A (Ala) | Missense Variant |
Help
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
Help
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 | G= | C |
|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.29286985= | NC_000022.11:g.29286985G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.29682974= | NC_000022.10:g.29682974G>C |
| EWSR1 RefSeqGene | NG_023240.1:g.23977= | NG_023240.1:g.23977G>C |
| EWSR1 transcript variant 1 | NM_013986.4:c.662= | NM_013986.4:c.662G>C |
| EWSR1 transcript variant 1 | NM_013986.3:c.662= | NM_013986.3:c.662G>C |
| EWSR1 transcript variant 2 | NM_005243.4:c.644= | NM_005243.4:c.644G>C |
| EWSR1 transcript variant 2 | NM_005243.3:c.644= | NM_005243.3:c.644G>C |
| EWSR1 transcript variant 3 | NM_001163285.2:c.644= | NM_001163285.2:c.644G>C |
| EWSR1 transcript variant 3 | NM_001163285.1:c.644= | NM_001163285.1:c.644G>C |
| EWSR1 transcript variant 4 | NM_001163286.2:c.476= | NM_001163286.2:c.476G>C |
| EWSR1 transcript variant 4 | NM_001163286.1:c.476= | NM_001163286.1:c.476G>C |
| EWSR1 transcript variant 5 | NM_001163287.2:c.644= | NM_001163287.2:c.644G>C |
| EWSR1 transcript variant 5 | NM_001163287.1:c.644= | NM_001163287.1:c.644G>C |
| EWSR1 transcript variant X2 | XM_005261389.5:c.644= | XM_005261389.5:c.644G>C |
| EWSR1 transcript variant X2 | XM_005261389.4:c.644= | XM_005261389.4:c.644G>C |
| EWSR1 transcript variant X2 | XM_005261389.3:c.644= | XM_005261389.3:c.644G>C |
| EWSR1 transcript variant X2 | XM_005261389.2:c.644= | XM_005261389.2:c.644G>C |
| EWSR1 transcript variant X1 | XM_005261389.1:c.644= | XM_005261389.1:c.644G>C |
| EWSR1 transcript variant X23 | XM_005261390.5:c.476= | XM_005261390.5:c.476G>C |
| EWSR1 transcript variant X19 | XM_005261390.4:c.476= | XM_005261390.4:c.476G>C |
| EWSR1 transcript variant X9 | XM_005261390.3:c.476= | XM_005261390.3:c.476G>C |
| EWSR1 transcript variant X2 | XM_005261390.2:c.476= | XM_005261390.2:c.476G>C |
| EWSR1 transcript variant X2 | XM_005261390.1:c.476= | XM_005261390.1:c.476G>C |
| EWSR1 transcript variant X1 | XM_011529995.4:c.647= | XM_011529995.4:c.647G>C |
| EWSR1 transcript variant X1 | XM_011529995.3:c.647= | XM_011529995.3:c.647G>C |
| EWSR1 transcript variant X1 | XM_011529995.2:c.647= | XM_011529995.2:c.647G>C |
| EWSR1 transcript variant X1 | XM_011529995.1:c.647= | XM_011529995.1:c.647G>C |
| EWSR1 transcript variant X3 | XM_011529996.4:c.647= | XM_011529996.4:c.647G>C |
| EWSR1 transcript variant X3 | XM_011529996.3:c.647= | XM_011529996.3:c.647G>C |
| EWSR1 transcript variant X3 | XM_011529996.2:c.647= | XM_011529996.2:c.647G>C |
| EWSR1 transcript variant X3 | XM_011529996.1:c.647= | XM_011529996.1:c.647G>C |
| EWSR1 transcript variant X7 | XM_011529999.4:c.647= | XM_011529999.4:c.647G>C |
| EWSR1 transcript variant X7 | XM_011529999.3:c.647= | XM_011529999.3:c.647G>C |
| EWSR1 transcript variant X7 | XM_011529999.2:c.647= | XM_011529999.2:c.647G>C |
| EWSR1 transcript variant X6 | XM_011529999.1:c.647= | XM_011529999.1:c.647G>C |
| EWSR1 transcript variant X33 | XM_011530002.4:c.647= | XM_011530002.4:c.647G>C |
| EWSR1 transcript variant X27 | XM_011530002.3:c.647= | XM_011530002.3:c.647G>C |
| EWSR1 transcript variant X27 | XM_011530002.2:c.647= | XM_011530002.2:c.647G>C |
| EWSR1 transcript variant X10 | XM_011530002.1:c.647= | XM_011530002.1:c.647G>C |
| EWSR1 transcript variant X4 | XM_017028644.3:c.644= | XM_017028644.3:c.644G>C |
| EWSR1 transcript variant X4 | XM_017028644.2:c.644= | XM_017028644.2:c.644G>C |
| EWSR1 transcript variant X4 | XM_017028644.1:c.644= | XM_017028644.1:c.644G>C |
| EWSR1 transcript variant X5 | XM_011529997.3:c.647= | XM_011529997.3:c.647G>C |
| EWSR1 transcript variant X5 | XM_011529997.2:c.647= | XM_011529997.2:c.647G>C |
| EWSR1 transcript variant X5 | XM_011529997.1:c.647= | XM_011529997.1:c.647G>C |
| EWSR1 transcript variant X6 | XM_011529998.3:c.647= | XM_011529998.3:c.647G>C |
| EWSR1 transcript variant X6 | XM_011529998.2:c.647= | XM_011529998.2:c.647G>C |
| EWSR1 transcript variant X6 | XM_011529998.1:c.647= | XM_011529998.1:c.647G>C |
| EWSR1 transcript variant X9 | XM_017028646.3:c.647= | XM_017028646.3:c.647G>C |
| EWSR1 transcript variant X9 | XM_017028646.2:c.647= | XM_017028646.2:c.647G>C |
| EWSR1 transcript variant X9 | XM_017028646.1:c.647= | XM_017028646.1:c.647G>C |
| EWSR1 transcript variant X8 | XM_017028645.3:c.644= | XM_017028645.3:c.644G>C |
| EWSR1 transcript variant X8 | XM_017028645.2:c.644= | XM_017028645.2:c.644G>C |
| EWSR1 transcript variant X8 | XM_017028645.1:c.644= | XM_017028645.1:c.644G>C |
| EWSR1 transcript variant X10 | XM_017028647.3:c.644= | XM_017028647.3:c.644G>C |
| EWSR1 transcript variant X10 | XM_017028647.2:c.644= | XM_017028647.2:c.644G>C |
| EWSR1 transcript variant X10 | XM_017028647.1:c.644= | XM_017028647.1:c.644G>C |
| EWSR1 transcript variant X11 | XM_011530000.3:c.647= | XM_011530000.3:c.647G>C |
| EWSR1 transcript variant X11 | XM_011530000.2:c.647= | XM_011530000.2:c.647G>C |
| EWSR1 transcript variant X11 | XM_011530000.1:c.647= | XM_011530000.1:c.647G>C |
| EWSR1 transcript variant X14 | XM_017028648.3:c.644= | XM_017028648.3:c.644G>C |
| EWSR1 transcript variant X12 | XM_017028648.2:c.644= | XM_017028648.2:c.644G>C |
| EWSR1 transcript variant X12 | XM_017028648.1:c.644= | XM_017028648.1:c.644G>C |
| EWSR1 transcript variant X15 | XM_017028649.3:c.647= | XM_017028649.3:c.647G>C |
| EWSR1 transcript variant X13 | XM_017028649.2:c.647= | XM_017028649.2:c.647G>C |
| EWSR1 transcript variant X13 | XM_017028649.1:c.647= | XM_017028649.1:c.647G>C |
| EWSR1 transcript variant X18 | XM_017028650.3:c.647= | XM_017028650.3:c.647G>C |
| EWSR1 transcript variant X14 | XM_017028650.2:c.647= | XM_017028650.2:c.647G>C |
| EWSR1 transcript variant X14 | XM_017028650.1:c.647= | XM_017028650.1:c.647G>C |
| EWSR1 transcript variant X20 | XM_017028652.3:c.647= | XM_017028652.3:c.647G>C |
| EWSR1 transcript variant X16 | XM_017028652.2:c.647= | XM_017028652.2:c.647G>C |
| EWSR1 transcript variant X16 | XM_017028652.1:c.647= | XM_017028652.1:c.647G>C |
| EWSR1 transcript variant X19 | XM_017028651.3:c.644= | XM_017028651.3:c.644G>C |
| EWSR1 transcript variant X15 | XM_017028651.2:c.644= | XM_017028651.2:c.644G>C |
| EWSR1 transcript variant X15 | XM_017028651.1:c.644= | XM_017028651.1:c.644G>C |
| EWSR1 transcript variant X21 | XM_017028653.3:c.644= | XM_017028653.3:c.644G>C |
| EWSR1 transcript variant X17 | XM_017028653.2:c.644= | XM_017028653.2:c.644G>C |
| EWSR1 transcript variant X17 | XM_017028653.1:c.644= | XM_017028653.1:c.644G>C |
| EWSR1 transcript variant X22 | XM_011530001.3:c.479= | XM_011530001.3:c.479G>C |
| EWSR1 transcript variant X18 | XM_011530001.2:c.479= | XM_011530001.2:c.479G>C |
| EWSR1 transcript variant X8 | XM_011530001.1:c.479= | XM_011530001.1:c.479G>C |
| EWSR1 transcript variant X27 | XM_017028656.3:c.644= | XM_017028656.3:c.644G>C |
| EWSR1 transcript variant X22 | XM_017028656.2:c.644= | XM_017028656.2:c.644G>C |
| EWSR1 transcript variant X22 | XM_017028656.1:c.644= | XM_017028656.1:c.644G>C |
| EWSR1 transcript variant X32 | XM_017028660.3:c.644= | XM_017028660.3:c.644G>C |
| EWSR1 transcript variant X26 | XM_017028660.2:c.644= | XM_017028660.2:c.644G>C |
| EWSR1 transcript variant X26 | XM_017028660.1:c.644= | XM_017028660.1:c.644G>C |
| EWSR1 transcript variant X39 | XM_017028662.3:c.476= | XM_017028662.3:c.476G>C |
| EWSR1 transcript variant X29 | XM_017028662.2:c.476= | XM_017028662.2:c.476G>C |
| EWSR1 transcript variant X29 | XM_017028662.1:c.476= | XM_017028662.1:c.476G>C |
| EWSR1 transcript variant X24 | XM_017028654.2:c.479= | XM_017028654.2:c.479G>C |
| EWSR1 transcript variant X20 | XM_017028654.1:c.479= | XM_017028654.1:c.479G>C |
| EWSR1 transcript variant X25 | XM_017028655.2:c.476= | XM_017028655.2:c.476G>C |
| EWSR1 transcript variant X21 | XM_017028655.1:c.476= | XM_017028655.1:c.476G>C |
| EWSR1 transcript variant X29 | XM_017028658.2:c.479= | XM_017028658.2:c.479G>C |
| EWSR1 transcript variant X24 | XM_017028658.1:c.479= | XM_017028658.1:c.479G>C |
| EWSR1 transcript variant X30 | XM_017028659.2:c.476= | XM_017028659.2:c.476G>C |
| EWSR1 transcript variant X25 | XM_017028659.1:c.476= | XM_017028659.1:c.476G>C |
| EWSR1 transcript variant X40 | XM_024452180.2:c.647= | XM_024452180.2:c.647G>C |
| EWSR1 transcript variant X30 | XM_024452180.1:c.647= | XM_024452180.1:c.647G>C |
| EWSR1 transcript variant X42 | XM_024452181.2:c.644= | XM_024452181.2:c.644G>C |
| EWSR1 transcript variant X31 | XM_024452181.1:c.644= | XM_024452181.1:c.644G>C |
| EWSR1 transcript variant X43 | XM_017028663.2:c.476= | XM_017028663.2:c.476G>C |
| EWSR1 transcript variant X32 | XM_017028663.1:c.476= | XM_017028663.1:c.476G>C |
| EWSR1 transcript variant X13 | XM_047441187.1:c.647= | XM_047441187.1:c.647G>C |
| EWSR1 transcript variant X12 | XM_047441186.1:c.644= | XM_047441186.1:c.644G>C |
| EWSR1 transcript variant X16 | XM_047441188.1:c.644= | XM_047441188.1:c.644G>C |
| EWSR1 transcript variant X17 | XM_047441189.1:c.644= | XM_047441189.1:c.644G>C |
| EWSR1 transcript variant X26 | XM_047441190.1:c.647= | XM_047441190.1:c.647G>C |
| EWSR1 transcript variant X28 | XM_047441191.1:c.479= | XM_047441191.1:c.479G>C |
| EWSR1 transcript variant X31 | XM_047441192.1:c.647= | XM_047441192.1:c.647G>C |
| EWSR1 transcript variant X35 | XM_047441194.1:c.476= | XM_047441194.1:c.476G>C |
| EWSR1 transcript variant X34 | XM_047441193.1:c.644= | XM_047441193.1:c.644G>C |
| EWSR1 transcript variant X36 | XM_047441195.1:c.647= | XM_047441195.1:c.647G>C |
| EWSR1 transcript variant X38 | XM_047441197.1:c.476= | XM_047441197.1:c.476G>C |
| EWSR1 transcript variant X37 | XM_047441196.1:c.644= | XM_047441196.1:c.644G>C |
| EWSR1 transcript variant X41 | XM_047441198.1:c.644= | XM_047441198.1:c.644G>C |
| EWSR1 transcript variant X44 | XM_047441199.1:c.647= | XM_047441199.1:c.647G>C |
| EWSR1 transcript variant X45 | XM_047441200.1:c.644= | XM_047441200.1:c.644G>C |
| EWSR1 transcript variant X46 | XM_047441201.1:c.476= | XM_047441201.1:c.476G>C |
| EWSR1 transcript variant X47 | XM_047441202.1:c.644= | XM_047441202.1:c.644G>C |
| RNA-binding protein EWS isoform 1 | NP_053733.2:p.Gly221= | NP_053733.2:p.Gly221Ala |
| RNA-binding protein EWS isoform 2 | NP_005234.1:p.Gly215= | NP_005234.1:p.Gly215Ala |
| RNA-binding protein EWS isoform 3 | NP_001156757.1:p.Gly215= | NP_001156757.1:p.Gly215Ala |
| RNA-binding protein EWS isoform 4 | NP_001156758.1:p.Gly159= | NP_001156758.1:p.Gly159Ala |
| RNA-binding protein EWS isoform 5 | NP_001156759.1:p.Gly215= | NP_001156759.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X2 | XP_005261446.1:p.Gly215= | XP_005261446.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X23 | XP_005261447.1:p.Gly159= | XP_005261447.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X1 | XP_011528297.1:p.Gly216= | XP_011528297.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X3 | XP_011528298.1:p.Gly216= | XP_011528298.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X7 | XP_011528301.1:p.Gly216= | XP_011528301.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X33 | XP_011528304.1:p.Gly216= | XP_011528304.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X4 | XP_016884133.1:p.Gly215= | XP_016884133.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X5 | XP_011528299.1:p.Gly216= | XP_011528299.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X6 | XP_011528300.1:p.Gly216= | XP_011528300.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X9 | XP_016884135.1:p.Gly216= | XP_016884135.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X8 | XP_016884134.1:p.Gly215= | XP_016884134.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X10 | XP_016884136.1:p.Gly215= | XP_016884136.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X11 | XP_011528302.1:p.Gly216= | XP_011528302.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X14 | XP_016884137.1:p.Gly215= | XP_016884137.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X15 | XP_016884138.1:p.Gly216= | XP_016884138.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X18 | XP_016884139.1:p.Gly216= | XP_016884139.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X20 | XP_016884141.1:p.Gly216= | XP_016884141.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X19 | XP_016884140.1:p.Gly215= | XP_016884140.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X21 | XP_016884142.1:p.Gly215= | XP_016884142.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X22 | XP_011528303.1:p.Gly160= | XP_011528303.1:p.Gly160Ala |
| RNA-binding protein EWS isoform X27 | XP_016884145.1:p.Gly215= | XP_016884145.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X32 | XP_016884149.1:p.Gly215= | XP_016884149.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X39 | XP_016884151.1:p.Gly159= | XP_016884151.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X24 | XP_016884143.1:p.Gly160= | XP_016884143.1:p.Gly160Ala |
| RNA-binding protein EWS isoform X25 | XP_016884144.1:p.Gly159= | XP_016884144.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X29 | XP_016884147.1:p.Gly160= | XP_016884147.1:p.Gly160Ala |
| RNA-binding protein EWS isoform X30 | XP_016884148.1:p.Gly159= | XP_016884148.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X40 | XP_024307948.1:p.Gly216= | XP_024307948.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X42 | XP_024307949.1:p.Gly215= | XP_024307949.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X43 | XP_016884152.1:p.Gly159= | XP_016884152.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X13 | XP_047297143.1:p.Gly216= | XP_047297143.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X12 | XP_047297142.1:p.Gly215= | XP_047297142.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X16 | XP_047297144.1:p.Gly215= | XP_047297144.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X17 | XP_047297145.1:p.Gly215= | XP_047297145.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X26 | XP_047297146.1:p.Gly216= | XP_047297146.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X28 | XP_047297147.1:p.Gly160= | XP_047297147.1:p.Gly160Ala |
| RNA-binding protein EWS isoform X31 | XP_047297148.1:p.Gly216= | XP_047297148.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X35 | XP_047297150.1:p.Gly159= | XP_047297150.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X34 | XP_047297149.1:p.Gly215= | XP_047297149.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X36 | XP_047297151.1:p.Gly216= | XP_047297151.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X38 | XP_047297153.1:p.Gly159= | XP_047297153.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X37 | XP_047297152.1:p.Gly215= | XP_047297152.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X41 | XP_047297154.1:p.Gly215= | XP_047297154.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X44 | XP_047297155.1:p.Gly216= | XP_047297155.1:p.Gly216Ala |
| RNA-binding protein EWS isoform X45 | XP_047297156.1:p.Gly215= | XP_047297156.1:p.Gly215Ala |
| RNA-binding protein EWS isoform X46 | XP_047297157.1:p.Gly159= | XP_047297157.1:p.Gly159Ala |
| RNA-binding protein EWS isoform X47 | XP_047297158.1:p.Gly215= | XP_047297158.1:p.Gly215Ala |
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#.
6 SubSNP,
5 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1694291267 | Apr 01, 2015 (144) |
| 2 | HUMAN_LONGEVITY | ss2246921701 | Dec 20, 2016 (150) |
| 3 | GNOMAD | ss2745055449 | Nov 08, 2017 (151) |
| 4 | GNOMAD | ss2750529955 | Nov 08, 2017 (151) |
| 5 | GNOMAD | ss2973810212 | Nov 08, 2017 (151) |
| 6 | TOPMED | ss5107443367 | Apr 27, 2021 (155) |
| 7 | ExAC | NC_000022.10 - 29682974 | Oct 12, 2018 (152) |
| 8 | gnomAD - Genomes | NC_000022.11 - 29286985 | Apr 27, 2021 (155) |
| 9 | gnomAD - Exomes | NC_000022.10 - 29682974 | Jul 13, 2019 (153) |
| 10 | TopMed | NC_000022.11 - 29286985 | Apr 27, 2021 (155) |
| 11 | ALFA | NC_000022.11 - 29286985 | Apr 27, 2021 (155) |
Help
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 |
|---|---|---|---|
| 5868253, 14385509, ss1694291267, ss2745055449, ss2750529955, ss2973810212 | NC_000022.10:29682973:G:C | NC_000022.11:29286984:G:C | (self) |
| 568513041, 382552314, 1525218522, ss2246921701, ss5107443367 | NC_000022.11:29286984:G:C | NC_000022.11:29286984:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs768764962
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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Help
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.
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.