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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.

rs376649965

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:29296307 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000023 (6/264690, TOPMED)
T=0.000020 (5/251460, GnomAD_exome)
T=0.000029 (4/140230, GnomAD) (+ 9 more)
T=0.000016 (2/121382, ExAC)
T=0.00000 (0/14420, ALFA)
T=0.00008 (1/13006, GO-ESP)
T=0.0003 (2/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
T=0.0003 (1/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EWSR1 : Synonymous 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 30770 C=0.99997 T=0.00003
European Sub 19902 C=1.00000 T=0.00000
African Sub 7784 C=1.0000 T=0.0000
African Others Sub 298 C=1.000 T=0.000
African American Sub 7486 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 2118 C=0.9995 T=0.0005


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
TopMed Global Study-wide 264690 C=0.999977 T=0.000023
gnomAD - Exomes Global Study-wide 251460 C=0.999980 T=0.000020
gnomAD - Exomes European Sub 135390 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49008 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34586 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6140 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140230 C=0.999971 T=0.000029
gnomAD - Genomes European Sub 75932 C=0.99995 T=0.00005
gnomAD - Genomes African Sub 42034 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13654 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
ExAC Global Study-wide 121382 C=0.999984 T=0.000016
ExAC Europe Sub 73336 C=0.99999 T=0.00001
ExAC Asian Sub 25164 C=1.00000 T=0.00000
ExAC American Sub 11570 C=1.00000 T=0.00000
ExAC African Sub 10404 C=0.99990 T=0.00010
ExAC Other Sub 908 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14420 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9824 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2946 C=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 684 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9997 T=0.0003
1000Genomes_30x African Sub 1786 C=0.9989 T=0.0011
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.0000 T=0.0000
SGDP_PRJ Global Study-wide 2 C=0.5 T=0.5
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.29296307C>T
GRCh37.p13 chr 22 NC_000022.10:g.29692297C>T
EWSR1 RefSeqGene NG_023240.1:g.33300C>T
Gene: EWSR1, EWS RNA binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EWSR1 transcript variant 5 NM_001163287.2:c. N/A Genic Downstream Transcript Variant
EWSR1 transcript variant 2 NM_005243.4:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform 2 NP_005234.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant 3 NM_001163285.2:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform 3 NP_001156757.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant 4 NM_001163286.2:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform 4 NP_001156758.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant 1 NM_013986.4:c.1248C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform 1 NP_053733.2:p.Gly416= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X47 XM_047441202.1:c. N/A Genic Downstream Transcript Variant
EWSR1 transcript variant X1 XM_011529995.4:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X1 XP_011528297.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X2 XM_005261389.5:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X2 XP_005261446.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X3 XM_011529996.4:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X3 XP_011528298.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X4 XM_017028644.3:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X4 XP_016884133.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X5 XM_011529997.3:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X5 XP_011528299.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X6 XM_011529998.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X6 XP_011528300.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X7 XM_011529999.4:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X7 XP_011528301.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X8 XM_017028645.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X8 XP_016884134.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X9 XM_017028646.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X9 XP_016884135.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X10 XM_017028647.3:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X10 XP_016884136.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X11 XM_011530000.3:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X11 XP_011528302.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X12 XM_047441186.1:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X12 XP_047297142.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X13 XM_047441187.1:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X13 XP_047297143.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X14 XM_017028648.3:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X14 XP_016884137.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X15 XM_017028649.3:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X15 XP_016884138.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X16 XM_047441188.1:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X16 XP_047297144.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X17 XM_047441189.1:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X17 XP_047297145.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X18 XM_017028650.3:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X18 XP_016884139.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X19 XM_017028651.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X19 XP_016884140.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X20 XM_017028652.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X20 XP_016884141.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X21 XM_017028653.3:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X21 XP_016884142.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X22 XM_011530001.3:c.1068C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X22 XP_011528303.1:p.Gly356= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X23 XM_005261390.5:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X23 XP_005261447.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X24 XM_017028654.2:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X24 XP_016884143.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X25 XM_017028655.2:c.1062C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X25 XP_016884144.1:p.Gly354= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X26 XM_047441190.1:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X26 XP_047297146.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X27 XM_017028656.3:c.1233C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X27 XP_016884145.1:p.Gly411= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X28 XM_047441191.1:c.1068C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X28 XP_047297147.1:p.Gly356= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X29 XM_017028658.2:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X29 XP_016884147.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X30 XM_017028659.2:c.1062C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X30 XP_016884148.1:p.Gly354= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X31 XM_047441192.1:c.1236C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X31 XP_047297148.1:p.Gly412= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X32 XM_017028660.3:c.1230C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X32 XP_016884149.1:p.Gly410= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X33 XM_011530002.4:c.1017C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X33 XP_011528304.1:p.Gly339= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X34 XM_047441193.1:c.1014C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X34 XP_047297149.1:p.Gly338= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X35 XM_047441194.1:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X35 XP_047297150.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X36 XM_047441195.1:c.1017C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X36 XP_047297151.1:p.Gly339= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X37 XM_047441196.1:c.1014C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X37 XP_047297152.1:p.Gly338= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X38 XM_047441197.1:c.1065C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X38 XP_047297153.1:p.Gly355= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X39 XM_017028662.3:c.1062C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X39 XP_016884151.1:p.Gly354= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X40 XM_024452180.2:c.1017C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X40 XP_024307948.1:p.Gly339= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X41 XM_047441198.1:c.1014C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X41 XP_047297154.1:p.Gly338= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X42 XM_024452181.2:c.1014C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X42 XP_024307949.1:p.Gly338= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X43 XM_017028663.2:c.1062C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X43 XP_016884152.1:p.Gly354= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X44 XM_047441199.1:c.1017C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X44 XP_047297155.1:p.Gly339= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X45 XM_047441200.1:c.1014C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X45 XP_047297156.1:p.Gly338= G (Gly) > G (Gly) Synonymous Variant
EWSR1 transcript variant X46 XM_047441201.1:c.846C>T G [GGC] > G [GGT] Coding Sequence Variant
RNA-binding protein EWS isoform X46 XP_047297157.1:p.Gly282= G (Gly) > G (Gly) Synonymous 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 C= T
GRCh38.p14 chr 22 NC_000022.11:g.29296307= NC_000022.11:g.29296307C>T
GRCh37.p13 chr 22 NC_000022.10:g.29692297= NC_000022.10:g.29692297C>T
EWSR1 RefSeqGene NG_023240.1:g.33300= NG_023240.1:g.33300C>T
EWSR1 transcript variant 1 NM_013986.4:c.1248= NM_013986.4:c.1248C>T
EWSR1 transcript variant 1 NM_013986.3:c.1248= NM_013986.3:c.1248C>T
EWSR1 transcript variant 2 NM_005243.4:c.1233= NM_005243.4:c.1233C>T
EWSR1 transcript variant 2 NM_005243.3:c.1233= NM_005243.3:c.1233C>T
EWSR1 transcript variant 3 NM_001163285.2:c.1230= NM_001163285.2:c.1230C>T
EWSR1 transcript variant 3 NM_001163285.1:c.1230= NM_001163285.1:c.1230C>T
EWSR1 transcript variant 4 NM_001163286.2:c.1065= NM_001163286.2:c.1065C>T
EWSR1 transcript variant 4 NM_001163286.1:c.1065= NM_001163286.1:c.1065C>T
EWSR1 transcript variant X2 XM_005261389.5:c.1233= XM_005261389.5:c.1233C>T
EWSR1 transcript variant X2 XM_005261389.4:c.1233= XM_005261389.4:c.1233C>T
EWSR1 transcript variant X2 XM_005261389.3:c.1233= XM_005261389.3:c.1233C>T
EWSR1 transcript variant X2 XM_005261389.2:c.1233= XM_005261389.2:c.1233C>T
EWSR1 transcript variant X1 XM_005261389.1:c.1233= XM_005261389.1:c.1233C>T
EWSR1 transcript variant X23 XM_005261390.5:c.1065= XM_005261390.5:c.1065C>T
EWSR1 transcript variant X19 XM_005261390.4:c.1065= XM_005261390.4:c.1065C>T
EWSR1 transcript variant X9 XM_005261390.3:c.1065= XM_005261390.3:c.1065C>T
EWSR1 transcript variant X2 XM_005261390.2:c.1065= XM_005261390.2:c.1065C>T
EWSR1 transcript variant X2 XM_005261390.1:c.1065= XM_005261390.1:c.1065C>T
EWSR1 transcript variant X1 XM_011529995.4:c.1236= XM_011529995.4:c.1236C>T
EWSR1 transcript variant X1 XM_011529995.3:c.1236= XM_011529995.3:c.1236C>T
EWSR1 transcript variant X1 XM_011529995.2:c.1236= XM_011529995.2:c.1236C>T
EWSR1 transcript variant X1 XM_011529995.1:c.1236= XM_011529995.1:c.1236C>T
EWSR1 transcript variant X3 XM_011529996.4:c.1233= XM_011529996.4:c.1233C>T
EWSR1 transcript variant X3 XM_011529996.3:c.1233= XM_011529996.3:c.1233C>T
EWSR1 transcript variant X3 XM_011529996.2:c.1233= XM_011529996.2:c.1233C>T
EWSR1 transcript variant X3 XM_011529996.1:c.1233= XM_011529996.1:c.1233C>T
EWSR1 transcript variant X7 XM_011529999.4:c.1236= XM_011529999.4:c.1236C>T
EWSR1 transcript variant X7 XM_011529999.3:c.1236= XM_011529999.3:c.1236C>T
EWSR1 transcript variant X7 XM_011529999.2:c.1236= XM_011529999.2:c.1236C>T
EWSR1 transcript variant X6 XM_011529999.1:c.1236= XM_011529999.1:c.1236C>T
EWSR1 transcript variant X33 XM_011530002.4:c.1017= XM_011530002.4:c.1017C>T
EWSR1 transcript variant X27 XM_011530002.3:c.1017= XM_011530002.3:c.1017C>T
EWSR1 transcript variant X27 XM_011530002.2:c.1017= XM_011530002.2:c.1017C>T
EWSR1 transcript variant X10 XM_011530002.1:c.1017= XM_011530002.1:c.1017C>T
EWSR1 transcript variant X4 XM_017028644.3:c.1230= XM_017028644.3:c.1230C>T
EWSR1 transcript variant X4 XM_017028644.2:c.1230= XM_017028644.2:c.1230C>T
EWSR1 transcript variant X4 XM_017028644.1:c.1230= XM_017028644.1:c.1230C>T
EWSR1 transcript variant X5 XM_011529997.3:c.1236= XM_011529997.3:c.1236C>T
EWSR1 transcript variant X5 XM_011529997.2:c.1236= XM_011529997.2:c.1236C>T
EWSR1 transcript variant X5 XM_011529997.1:c.1236= XM_011529997.1:c.1236C>T
EWSR1 transcript variant X6 XM_011529998.3:c.1233= XM_011529998.3:c.1233C>T
EWSR1 transcript variant X6 XM_011529998.2:c.1233= XM_011529998.2:c.1233C>T
EWSR1 transcript variant X6 XM_011529998.1:c.1233= XM_011529998.1:c.1233C>T
EWSR1 transcript variant X9 XM_017028646.3:c.1233= XM_017028646.3:c.1233C>T
EWSR1 transcript variant X9 XM_017028646.2:c.1233= XM_017028646.2:c.1233C>T
EWSR1 transcript variant X9 XM_017028646.1:c.1233= XM_017028646.1:c.1233C>T
EWSR1 transcript variant X8 XM_017028645.3:c.1233= XM_017028645.3:c.1233C>T
EWSR1 transcript variant X8 XM_017028645.2:c.1233= XM_017028645.2:c.1233C>T
EWSR1 transcript variant X8 XM_017028645.1:c.1233= XM_017028645.1:c.1233C>T
EWSR1 transcript variant X10 XM_017028647.3:c.1230= XM_017028647.3:c.1230C>T
EWSR1 transcript variant X10 XM_017028647.2:c.1230= XM_017028647.2:c.1230C>T
EWSR1 transcript variant X10 XM_017028647.1:c.1230= XM_017028647.1:c.1230C>T
EWSR1 transcript variant X11 XM_011530000.3:c.1236= XM_011530000.3:c.1236C>T
EWSR1 transcript variant X11 XM_011530000.2:c.1236= XM_011530000.2:c.1236C>T
EWSR1 transcript variant X11 XM_011530000.1:c.1236= XM_011530000.1:c.1236C>T
EWSR1 transcript variant X14 XM_017028648.3:c.1230= XM_017028648.3:c.1230C>T
EWSR1 transcript variant X12 XM_017028648.2:c.1230= XM_017028648.2:c.1230C>T
EWSR1 transcript variant X12 XM_017028648.1:c.1230= XM_017028648.1:c.1230C>T
EWSR1 transcript variant X15 XM_017028649.3:c.1236= XM_017028649.3:c.1236C>T
EWSR1 transcript variant X13 XM_017028649.2:c.1236= XM_017028649.2:c.1236C>T
EWSR1 transcript variant X13 XM_017028649.1:c.1236= XM_017028649.1:c.1236C>T
EWSR1 transcript variant X18 XM_017028650.3:c.1236= XM_017028650.3:c.1236C>T
EWSR1 transcript variant X14 XM_017028650.2:c.1236= XM_017028650.2:c.1236C>T
EWSR1 transcript variant X14 XM_017028650.1:c.1236= XM_017028650.1:c.1236C>T
EWSR1 transcript variant X20 XM_017028652.3:c.1233= XM_017028652.3:c.1233C>T
EWSR1 transcript variant X16 XM_017028652.2:c.1233= XM_017028652.2:c.1233C>T
EWSR1 transcript variant X16 XM_017028652.1:c.1233= XM_017028652.1:c.1233C>T
EWSR1 transcript variant X19 XM_017028651.3:c.1233= XM_017028651.3:c.1233C>T
EWSR1 transcript variant X15 XM_017028651.2:c.1233= XM_017028651.2:c.1233C>T
EWSR1 transcript variant X15 XM_017028651.1:c.1233= XM_017028651.1:c.1233C>T
EWSR1 transcript variant X21 XM_017028653.3:c.1230= XM_017028653.3:c.1230C>T
EWSR1 transcript variant X17 XM_017028653.2:c.1230= XM_017028653.2:c.1230C>T
EWSR1 transcript variant X17 XM_017028653.1:c.1230= XM_017028653.1:c.1230C>T
EWSR1 transcript variant X22 XM_011530001.3:c.1068= XM_011530001.3:c.1068C>T
EWSR1 transcript variant X18 XM_011530001.2:c.1068= XM_011530001.2:c.1068C>T
EWSR1 transcript variant X8 XM_011530001.1:c.1068= XM_011530001.1:c.1068C>T
EWSR1 transcript variant X27 XM_017028656.3:c.1233= XM_017028656.3:c.1233C>T
EWSR1 transcript variant X22 XM_017028656.2:c.1233= XM_017028656.2:c.1233C>T
EWSR1 transcript variant X22 XM_017028656.1:c.1233= XM_017028656.1:c.1233C>T
EWSR1 transcript variant X32 XM_017028660.3:c.1230= XM_017028660.3:c.1230C>T
EWSR1 transcript variant X26 XM_017028660.2:c.1230= XM_017028660.2:c.1230C>T
EWSR1 transcript variant X26 XM_017028660.1:c.1230= XM_017028660.1:c.1230C>T
EWSR1 transcript variant X39 XM_017028662.3:c.1062= XM_017028662.3:c.1062C>T
EWSR1 transcript variant X29 XM_017028662.2:c.1062= XM_017028662.2:c.1062C>T
EWSR1 transcript variant X29 XM_017028662.1:c.1062= XM_017028662.1:c.1062C>T
EWSR1 transcript variant X24 XM_017028654.2:c.1065= XM_017028654.2:c.1065C>T
EWSR1 transcript variant X20 XM_017028654.1:c.1065= XM_017028654.1:c.1065C>T
EWSR1 transcript variant X25 XM_017028655.2:c.1062= XM_017028655.2:c.1062C>T
EWSR1 transcript variant X21 XM_017028655.1:c.1062= XM_017028655.1:c.1062C>T
EWSR1 transcript variant X29 XM_017028658.2:c.1065= XM_017028658.2:c.1065C>T
EWSR1 transcript variant X24 XM_017028658.1:c.1065= XM_017028658.1:c.1065C>T
EWSR1 transcript variant X30 XM_017028659.2:c.1062= XM_017028659.2:c.1062C>T
EWSR1 transcript variant X25 XM_017028659.1:c.1062= XM_017028659.1:c.1062C>T
EWSR1 transcript variant X40 XM_024452180.2:c.1017= XM_024452180.2:c.1017C>T
EWSR1 transcript variant X30 XM_024452180.1:c.1017= XM_024452180.1:c.1017C>T
EWSR1 transcript variant X42 XM_024452181.2:c.1014= XM_024452181.2:c.1014C>T
EWSR1 transcript variant X31 XM_024452181.1:c.1014= XM_024452181.1:c.1014C>T
EWSR1 transcript variant X43 XM_017028663.2:c.1062= XM_017028663.2:c.1062C>T
EWSR1 transcript variant X32 XM_017028663.1:c.1062= XM_017028663.1:c.1062C>T
EWSR1 transcript variant X13 XM_047441187.1:c.1233= XM_047441187.1:c.1233C>T
EWSR1 transcript variant X12 XM_047441186.1:c.1233= XM_047441186.1:c.1233C>T
EWSR1 transcript variant X16 XM_047441188.1:c.1233= XM_047441188.1:c.1233C>T
EWSR1 transcript variant X17 XM_047441189.1:c.1230= XM_047441189.1:c.1230C>T
EWSR1 transcript variant X26 XM_047441190.1:c.1236= XM_047441190.1:c.1236C>T
EWSR1 transcript variant X28 XM_047441191.1:c.1068= XM_047441191.1:c.1068C>T
EWSR1 transcript variant X31 XM_047441192.1:c.1236= XM_047441192.1:c.1236C>T
EWSR1 transcript variant X35 XM_047441194.1:c.1065= XM_047441194.1:c.1065C>T
EWSR1 transcript variant X34 XM_047441193.1:c.1014= XM_047441193.1:c.1014C>T
EWSR1 transcript variant X36 XM_047441195.1:c.1017= XM_047441195.1:c.1017C>T
EWSR1 transcript variant X38 XM_047441197.1:c.1065= XM_047441197.1:c.1065C>T
EWSR1 transcript variant X37 XM_047441196.1:c.1014= XM_047441196.1:c.1014C>T
EWSR1 transcript variant X41 XM_047441198.1:c.1014= XM_047441198.1:c.1014C>T
EWSR1 transcript variant X44 XM_047441199.1:c.1017= XM_047441199.1:c.1017C>T
EWSR1 transcript variant X45 XM_047441200.1:c.1014= XM_047441200.1:c.1014C>T
EWSR1 transcript variant X46 XM_047441201.1:c.846= XM_047441201.1:c.846C>T
RNA-binding protein EWS isoform 1 NP_053733.2:p.Gly416= NP_053733.2:p.Gly416=
RNA-binding protein EWS isoform 2 NP_005234.1:p.Gly411= NP_005234.1:p.Gly411=
RNA-binding protein EWS isoform 3 NP_001156757.1:p.Gly410= NP_001156757.1:p.Gly410=
RNA-binding protein EWS isoform 4 NP_001156758.1:p.Gly355= NP_001156758.1:p.Gly355=
RNA-binding protein EWS isoform X2 XP_005261446.1:p.Gly411= XP_005261446.1:p.Gly411=
RNA-binding protein EWS isoform X23 XP_005261447.1:p.Gly355= XP_005261447.1:p.Gly355=
RNA-binding protein EWS isoform X1 XP_011528297.1:p.Gly412= XP_011528297.1:p.Gly412=
RNA-binding protein EWS isoform X3 XP_011528298.1:p.Gly411= XP_011528298.1:p.Gly411=
RNA-binding protein EWS isoform X7 XP_011528301.1:p.Gly412= XP_011528301.1:p.Gly412=
RNA-binding protein EWS isoform X33 XP_011528304.1:p.Gly339= XP_011528304.1:p.Gly339=
RNA-binding protein EWS isoform X4 XP_016884133.1:p.Gly410= XP_016884133.1:p.Gly410=
RNA-binding protein EWS isoform X5 XP_011528299.1:p.Gly412= XP_011528299.1:p.Gly412=
RNA-binding protein EWS isoform X6 XP_011528300.1:p.Gly411= XP_011528300.1:p.Gly411=
RNA-binding protein EWS isoform X9 XP_016884135.1:p.Gly411= XP_016884135.1:p.Gly411=
RNA-binding protein EWS isoform X8 XP_016884134.1:p.Gly411= XP_016884134.1:p.Gly411=
RNA-binding protein EWS isoform X10 XP_016884136.1:p.Gly410= XP_016884136.1:p.Gly410=
RNA-binding protein EWS isoform X11 XP_011528302.1:p.Gly412= XP_011528302.1:p.Gly412=
RNA-binding protein EWS isoform X14 XP_016884137.1:p.Gly410= XP_016884137.1:p.Gly410=
RNA-binding protein EWS isoform X15 XP_016884138.1:p.Gly412= XP_016884138.1:p.Gly412=
RNA-binding protein EWS isoform X18 XP_016884139.1:p.Gly412= XP_016884139.1:p.Gly412=
RNA-binding protein EWS isoform X20 XP_016884141.1:p.Gly411= XP_016884141.1:p.Gly411=
RNA-binding protein EWS isoform X19 XP_016884140.1:p.Gly411= XP_016884140.1:p.Gly411=
RNA-binding protein EWS isoform X21 XP_016884142.1:p.Gly410= XP_016884142.1:p.Gly410=
RNA-binding protein EWS isoform X22 XP_011528303.1:p.Gly356= XP_011528303.1:p.Gly356=
RNA-binding protein EWS isoform X27 XP_016884145.1:p.Gly411= XP_016884145.1:p.Gly411=
RNA-binding protein EWS isoform X32 XP_016884149.1:p.Gly410= XP_016884149.1:p.Gly410=
RNA-binding protein EWS isoform X39 XP_016884151.1:p.Gly354= XP_016884151.1:p.Gly354=
RNA-binding protein EWS isoform X24 XP_016884143.1:p.Gly355= XP_016884143.1:p.Gly355=
RNA-binding protein EWS isoform X25 XP_016884144.1:p.Gly354= XP_016884144.1:p.Gly354=
RNA-binding protein EWS isoform X29 XP_016884147.1:p.Gly355= XP_016884147.1:p.Gly355=
RNA-binding protein EWS isoform X30 XP_016884148.1:p.Gly354= XP_016884148.1:p.Gly354=
RNA-binding protein EWS isoform X40 XP_024307948.1:p.Gly339= XP_024307948.1:p.Gly339=
RNA-binding protein EWS isoform X42 XP_024307949.1:p.Gly338= XP_024307949.1:p.Gly338=
RNA-binding protein EWS isoform X43 XP_016884152.1:p.Gly354= XP_016884152.1:p.Gly354=
RNA-binding protein EWS isoform X13 XP_047297143.1:p.Gly411= XP_047297143.1:p.Gly411=
RNA-binding protein EWS isoform X12 XP_047297142.1:p.Gly411= XP_047297142.1:p.Gly411=
RNA-binding protein EWS isoform X16 XP_047297144.1:p.Gly411= XP_047297144.1:p.Gly411=
RNA-binding protein EWS isoform X17 XP_047297145.1:p.Gly410= XP_047297145.1:p.Gly410=
RNA-binding protein EWS isoform X26 XP_047297146.1:p.Gly412= XP_047297146.1:p.Gly412=
RNA-binding protein EWS isoform X28 XP_047297147.1:p.Gly356= XP_047297147.1:p.Gly356=
RNA-binding protein EWS isoform X31 XP_047297148.1:p.Gly412= XP_047297148.1:p.Gly412=
RNA-binding protein EWS isoform X35 XP_047297150.1:p.Gly355= XP_047297150.1:p.Gly355=
RNA-binding protein EWS isoform X34 XP_047297149.1:p.Gly338= XP_047297149.1:p.Gly338=
RNA-binding protein EWS isoform X36 XP_047297151.1:p.Gly339= XP_047297151.1:p.Gly339=
RNA-binding protein EWS isoform X38 XP_047297153.1:p.Gly355= XP_047297153.1:p.Gly355=
RNA-binding protein EWS isoform X37 XP_047297152.1:p.Gly338= XP_047297152.1:p.Gly338=
RNA-binding protein EWS isoform X41 XP_047297154.1:p.Gly338= XP_047297154.1:p.Gly338=
RNA-binding protein EWS isoform X44 XP_047297155.1:p.Gly339= XP_047297155.1:p.Gly339=
RNA-binding protein EWS isoform X45 XP_047297156.1:p.Gly338= XP_047297156.1:p.Gly338=
RNA-binding protein EWS isoform X46 XP_047297157.1:p.Gly282= XP_047297157.1:p.Gly282=
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#.

14 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713617516 Apr 25, 2013 (138)
2 1000GENOMES ss1366963414 Aug 21, 2014 (142)
3 EVA_UK10K_ALSPAC ss1639886643 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1682880676 Apr 01, 2015 (144)
5 EVA_EXAC ss1694291423 Apr 01, 2015 (144)
6 GNOMAD ss2745055711 Nov 08, 2017 (151)
7 EVA ss3825435825 Apr 27, 2020 (154)
8 SGDP_PRJ ss3890437573 Apr 27, 2020 (154)
9 GNOMAD ss4363730104 Apr 27, 2021 (155)
10 TOPMED ss5107445898 Apr 27, 2021 (155)
11 1000G_HIGH_COVERAGE ss5310921696 Oct 16, 2022 (156)
12 EVA ss5440977855 Oct 16, 2022 (156)
13 1000G_HIGH_COVERAGE ss5618395800 Oct 16, 2022 (156)
14 EVA ss5881618618 Oct 16, 2022 (156)
15 1000Genomes NC_000022.10 - 29692297 Oct 12, 2018 (152)
16 1000Genomes_30x NC_000022.11 - 29296307 Oct 16, 2022 (156)
17 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 29692297 Oct 12, 2018 (152)
18 ExAC NC_000022.10 - 29692297 Oct 12, 2018 (152)
19 gnomAD - Genomes NC_000022.11 - 29296307 Apr 27, 2021 (155)
20 gnomAD - Exomes NC_000022.10 - 29692297 Jul 13, 2019 (153)
21 GO Exome Sequencing Project NC_000022.10 - 29692297 Oct 12, 2018 (152)
22 SGDP_PRJ NC_000022.10 - 29692297 Apr 27, 2020 (154)
23 TopMed NC_000022.11 - 29296307 Apr 27, 2021 (155)
24 UK 10K study - Twins NC_000022.10 - 29692297 Oct 12, 2018 (152)
25 ALFA NC_000022.11 - 29296307 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
80507889, 44529459, 5868422, 14385779, 1892660, 42454553, 44529459, ss713617516, ss1366963414, ss1639886643, ss1682880676, ss1694291423, ss2745055711, ss3825435825, ss3890437573, ss5440977855 NC_000022.10:29692296:C:T NC_000022.11:29296306:C:T (self)
105921735, 568514978, 382554845, 6599122250, ss4363730104, ss5107445898, ss5310921696, ss5618395800, ss5881618618 NC_000022.11:29296306:C:T NC_000022.11:29296306:C:T (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 rs376649965

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
Top 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.

Software version is: 2.0.1.post761+d5e8e07