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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.

rs1462496512

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:5680097 (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=0.000008 (2/264690, TOPMED)
C=0.000014 (2/140168, GnomAD)
C=0.00003 (1/35416, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIM5 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 35416 G=0.99997 C=0.00003 0.999944 0.0 5.6e-05 0
European Sub 26578 G=0.99996 C=0.00004 0.999925 0.0 0.000075 0
African Sub 2918 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2804 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 4582 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A


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 G=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 140168 G=0.999986 C=0.000014
gnomAD - Genomes European Sub 75916 G=0.99997 C=0.00003
gnomAD - Genomes African Sub 42004 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13642 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 35416 G=0.99997 C=0.00003
Allele Frequency Aggregator European Sub 26578 G=0.99996 C=0.00004
Allele Frequency Aggregator Other Sub 4582 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2918 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 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 11 NC_000011.10:g.5680097G>C
GRCh37.p13 chr 11 NC_000011.9:g.5701327G>C
TRIM5 RefSeqGene NG_029122.1:g.10013C>G
Gene: TRIM5, tripartite motif containing 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM5 transcript variant alpha NM_033034.3:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform alpha NP_149023.2:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant gamma NM_033092.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform gamma NP_149083.2:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant delta NM_033093.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform delta NP_149084.2:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X1 XM_005253183.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X1 XP_005253240.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X2 XM_005253184.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X2 XP_005253241.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X3 XM_017018460.3:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X3 XP_016873949.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X4 XM_011520426.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X4 XP_011518728.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X5 XM_017018461.3:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X4 XP_016873950.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X8 XM_047427783.1:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X5 XP_047283739.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X11 XM_006718358.4:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X6 XP_006718421.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X12 XM_017018463.3:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X6 XP_016873952.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X12 XM_047427784.1:c.81C>G S [AGC] > R [AGG] Coding Sequence Variant
tripartite motif-containing protein 5 isoform X7 XP_047283740.1:p.Ser27Arg S (Ser) > R (Arg) Missense Variant
TRIM5 transcript variant X6 XR_001748014.3:n.349C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X7 XR_007062517.1:n.349C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X9 XR_007062518.1:n.201C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X10 XR_007062519.1:n.349C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X13 XR_007062520.1:n.349C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X14 XR_007062521.1:n.201C>G N/A Non Coding Transcript Variant
TRIM5 transcript variant X15 XR_007062522.1:n.201C>G N/A Non Coding Transcript 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 11 NC_000011.10:g.5680097= NC_000011.10:g.5680097G>C
GRCh37.p13 chr 11 NC_000011.9:g.5701327= NC_000011.9:g.5701327G>C
TRIM5 RefSeqGene NG_029122.1:g.10013= NG_029122.1:g.10013C>G
TRIM5 transcript variant gamma NM_033092.4:c.81= NM_033092.4:c.81C>G
TRIM5 transcript variant gamma NM_033092.3:c.81= NM_033092.3:c.81C>G
TRIM5 transcript variant gamma NM_033092.2:c.81= NM_033092.2:c.81C>G
TRIM5 transcript variant delta NM_033093.4:c.81= NM_033093.4:c.81C>G
TRIM5 transcript variant delta NM_033093.3:c.81= NM_033093.3:c.81C>G
TRIM5 transcript variant delta NM_033093.2:c.81= NM_033093.2:c.81C>G
TRIM5 transcript variant alpha NM_033034.3:c.81= NM_033034.3:c.81C>G
TRIM5 transcript variant alpha NM_033034.2:c.81= NM_033034.2:c.81C>G
TRIM5 transcript variant 4 NM_001410958.1:c.81= NM_001410958.1:c.81C>G
TRIM5 transcript variant X11 XM_006718358.4:c.81= XM_006718358.4:c.81C>G
TRIM5 transcript variant X14 XM_006718358.3:c.81= XM_006718358.3:c.81C>G
TRIM5 transcript variant X14 XM_006718358.2:c.81= XM_006718358.2:c.81C>G
TRIM5 transcript variant X10 XM_006718358.1:c.81= XM_006718358.1:c.81C>G
TRIM5 transcript variant X1 XM_005253183.4:c.81= XM_005253183.4:c.81C>G
TRIM5 transcript variant X1 XM_005253183.3:c.81= XM_005253183.3:c.81C>G
TRIM5 transcript variant X1 XM_005253183.2:c.81= XM_005253183.2:c.81C>G
TRIM5 transcript variant X1 XM_005253183.1:c.81= XM_005253183.1:c.81C>G
TRIM5 transcript variant X2 XM_005253184.4:c.81= XM_005253184.4:c.81C>G
TRIM5 transcript variant X2 XM_005253184.3:c.81= XM_005253184.3:c.81C>G
TRIM5 transcript variant X2 XM_005253184.2:c.81= XM_005253184.2:c.81C>G
TRIM5 transcript variant X3 XM_005253184.1:c.81= XM_005253184.1:c.81C>G
TRIM5 transcript variant X4 XM_011520426.4:c.81= XM_011520426.4:c.81C>G
TRIM5 transcript variant X4 XM_011520426.3:c.81= XM_011520426.3:c.81C>G
TRIM5 transcript variant X4 XM_011520426.2:c.81= XM_011520426.2:c.81C>G
TRIM5 transcript variant X5 XM_011520426.1:c.81= XM_011520426.1:c.81C>G
TRIM5 transcript variant X6 XR_001748014.3:n.349= XR_001748014.3:n.349C>G
TRIM5 transcript variant X6 XR_001748014.2:n.359= XR_001748014.2:n.359C>G
TRIM5 transcript variant X6 XR_001748014.1:n.370= XR_001748014.1:n.370C>G
TRIM5 transcript variant X12 XM_017018463.3:c.81= XM_017018463.3:c.81C>G
TRIM5 transcript variant X5 XM_017018461.3:c.81= XM_017018461.3:c.81C>G
TRIM5 transcript variant X5 XM_017018461.2:c.81= XM_017018461.2:c.81C>G
TRIM5 transcript variant X5 XM_017018461.1:c.81= XM_017018461.1:c.81C>G
TRIM5 transcript variant X3 XM_017018460.3:c.81= XM_017018460.3:c.81C>G
TRIM5 transcript variant X3 XM_017018460.2:c.81= XM_017018460.2:c.81C>G
TRIM5 transcript variant X3 XM_017018460.1:c.81= XM_017018460.1:c.81C>G
TRIM5 transcript variant X10 XR_007062519.1:n.349= XR_007062519.1:n.349C>G
TRIM5 transcript variant X9 XR_007062518.1:n.201= XR_007062518.1:n.201C>G
TRIM5 transcript variant X15 XR_007062522.1:n.201= XR_007062522.1:n.201C>G
TRIM5 transcript variant X12 XM_047427784.1:c.81= XM_047427784.1:c.81C>G
TRIM5 transcript variant X8 XM_047427783.1:c.81= XM_047427783.1:c.81C>G
TRIM5 transcript variant X7 XR_007062517.1:n.349= XR_007062517.1:n.349C>G
TRIM5 transcript variant X13 XR_007062520.1:n.349= XR_007062520.1:n.349C>G
TRIM5 transcript variant X14 XR_007062521.1:n.201= XR_007062521.1:n.201C>G
tripartite motif-containing protein 5 isoform gamma NP_149083.2:p.Ser27= NP_149083.2:p.Ser27Arg
tripartite motif-containing protein 5 isoform delta NP_149084.2:p.Ser27= NP_149084.2:p.Ser27Arg
tripartite motif-containing protein 5 isoform alpha NP_149023.2:p.Ser27= NP_149023.2:p.Ser27Arg
tripartite motif-containing protein 5 isoform X6 XP_006718421.1:p.Ser27= XP_006718421.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X1 XP_005253240.1:p.Ser27= XP_005253240.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X2 XP_005253241.1:p.Ser27= XP_005253241.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X4 XP_011518728.1:p.Ser27= XP_011518728.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X6 XP_016873952.1:p.Ser27= XP_016873952.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X4 XP_016873950.1:p.Ser27= XP_016873950.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X3 XP_016873949.1:p.Ser27= XP_016873949.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X7 XP_047283740.1:p.Ser27= XP_047283740.1:p.Ser27Arg
tripartite motif-containing protein 5 isoform X5 XP_047283739.1:p.Ser27= XP_047283739.1:p.Ser27Arg
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738747429 Nov 08, 2017 (151)
2 GNOMAD ss4229364024 Apr 26, 2021 (155)
3 TOPMED ss4873821128 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000011.10 - 5680097 Apr 26, 2021 (155)
5 TopMed NC_000011.10 - 5680097 Apr 26, 2021 (155)
6 ALFA NC_000011.10 - 5680097 Apr 26, 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
ss2738747429 NC_000011.9:5701326:G:C NC_000011.10:5680096:G:C (self)
370220466, 89366784, 9999543319, ss4229364024, ss4873821128 NC_000011.10:5680096:G:C NC_000011.10:5680096: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 rs1462496512

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.post820+afb47a3d