Name: rs765759912
Published: September 21, 2022
License: Open Access

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.

rs765759912

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:108295003 (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>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000030 (8/264690, TOPMED)
A=0.000048 (12/251334, GnomAD_exome)
A=0.000007 (1/140142, GnomAD) (+ 2 more)
A=0.000041 (5/121380, ExAC)
A=0.00008 (3/35432, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ATM : 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	35432	G=0.99992	A=0.00008
European	Sub	26588	G=0.99992	A=0.00008
African	Sub	2918	G=1.0000	A=0.0000
African Others	Sub	114	G=1.000	A=0.000
African American	Sub	2804	G=1.0000	A=0.0000
Asian	Sub	112	G=1.000	A=0.000
East Asian	Sub	86	G=1.00	A=0.00
Other Asian	Sub	26	G=1.00	A=0.00
Latin American 1	Sub	500	G=1.000	A=0.000
Latin American 2	Sub	628	G=1.000	A=0.000
South Asian	Sub	98	G=1.00	A=0.00
Other	Sub	4588	G=0.9998	A=0.0002

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.999970	A=0.000030
gnomAD - Exomes	Global	Study-wide	251334	G=0.999952	A=0.000048
gnomAD - Exomes	European	Sub	135292	G=0.999978	A=0.000022
gnomAD - Exomes	Asian	Sub	48998	G=0.99984	A=0.00016
gnomAD - Exomes	American	Sub	34586	G=1.00000	A=0.00000
gnomAD - Exomes	African	Sub	16254	G=1.00000	A=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	G=1.00000	A=0.00000
gnomAD - Exomes	Other	Sub	6130	G=0.9998	A=0.0002
gnomAD - Genomes	Global	Study-wide	140142	G=0.999993	A=0.000007
gnomAD - Genomes	European	Sub	75908	G=0.99999	A=0.00001
gnomAD - Genomes	African	Sub	41992	G=1.00000	A=0.00000
gnomAD - Genomes	American	Sub	13638	G=1.00000	A=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3126	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2154	G=1.0000	A=0.0000
ExAC	Global	Study-wide	121380	G=0.999959	A=0.000041
ExAC	Europe	Sub	73352	G=0.99997	A=0.00003
ExAC	Asian	Sub	25146	G=0.99988	A=0.00012
ExAC	American	Sub	11570	G=1.00000	A=0.00000
ExAC	African	Sub	10404	G=1.00000	A=0.00000
ExAC	Other	Sub	908	G=1.000	A=0.000
Allele Frequency Aggregator	Total	Global	35432	G=0.99992	A=0.00008
Allele Frequency Aggregator	European	Sub	26588	G=0.99992	A=0.00008
Allele Frequency Aggregator	Other	Sub	4588	G=0.9998	A=0.0002
Allele Frequency Aggregator	African	Sub	2918	G=1.0000	A=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	628	G=1.000	A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	500	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00

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.108295003G>A
GRCh38.p14 chr 11	NC_000011.10:g.108295003G>C
GRCh38.p14 chr 11	NC_000011.10:g.108295003G>T
GRCh37.p13 chr 11	NC_000011.9:g.108165730G>A
GRCh37.p13 chr 11	NC_000011.9:g.108165730G>C
GRCh37.p13 chr 11	NC_000011.9:g.108165730G>T
ATM RefSeqGene (LRG_135)	NG_009830.1:g.77172G>A
ATM RefSeqGene (LRG_135)	NG_009830.1:g.77172G>C
ATM RefSeqGene (LRG_135)	NG_009830.1:g.77172G>T

Gene: ATM, ATM serine/threonine kinase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATM transcript variant 3	NM_001351835.2:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant 4	NM_001351836.2:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant 1	NM_001351834.2:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg1618G… NP_001338763.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant 1	NM_001351834.2:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg1618P… NP_001338763.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant 1	NM_001351834.2:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg1618L… NP_001338763.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant 2	NM_000051.4:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant 2	NM_000051.4:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant 2	NM_000051.4:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X14	XM_047426981.1:c.4776+152… XM_047426981.1:c.4776+1526G>A	N/A	Intron Variant
ATM transcript variant X1	XM_006718843.5:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg1618G… XP_006718906.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X1	XM_006718843.5:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg1618P… XP_006718906.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X1	XM_006718843.5:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg1618L… XP_006718906.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X2	XM_047426975.1:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg1618G… XP_047282931.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X2	XM_047426975.1:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg1618P… XP_047282931.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X2	XM_047426975.1:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg1618L… XP_047282931.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X3	XM_005271562.6:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg1618G… XP_005271619.2:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X3	XM_005271562.6:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg1618P… XP_005271619.2:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X3	XM_005271562.6:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg1618L… XP_005271619.2:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X4	XM_011542840.4:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg1618G… XP_011541142.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X4	XM_011542840.4:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg1618P… XP_011541142.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X4	XM_011542840.4:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg1618L… XP_011541142.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X5	XM_017017790.3:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg1618G… XP_016873279.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X5	XM_017017790.3:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg1618P… XP_016873279.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X5	XM_017017790.3:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg1618L… XP_016873279.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X6	XM_047426976.1:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg1618G… XP_047282932.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X6	XM_047426976.1:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg1618P… XP_047282932.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X6	XM_047426976.1:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg1618L… XP_047282932.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X7	XM_011542842.4:c.4688G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg1563G… XP_011541144.1:p.Arg1563Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X7	XM_011542842.4:c.4688G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg1563P… XP_011541144.1:p.Arg1563Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X7	XM_011542842.4:c.4688G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg1563L… XP_011541144.1:p.Arg1563Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X8	XM_047426977.1:c.4688G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg1563G… XP_047282933.1:p.Arg1563Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X8	XM_047426977.1:c.4688G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg1563P… XP_047282933.1:p.Arg1563Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X8	XM_047426977.1:c.4688G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg1563L… XP_047282933.1:p.Arg1563Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X9	XM_047426978.1:c.4688G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg1563G… XP_047282934.1:p.Arg1563Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X9	XM_047426978.1:c.4688G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg1563P… XP_047282934.1:p.Arg1563Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X9	XM_047426978.1:c.4688G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg1563L… XP_047282934.1:p.Arg1563Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X10	XM_047426979.1:c.4688G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg1563G… XP_047282935.1:p.Arg1563Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X10	XM_047426979.1:c.4688G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg1563P… XP_047282935.1:p.Arg1563Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X10	XM_047426979.1:c.4688G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg1563L… XP_047282935.1:p.Arg1563Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X11	XM_011542843.3:c.4853G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X3	XP_011541145.1:p.Arg1618G… XP_011541145.1:p.Arg1618Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X11	XM_011542843.3:c.4853G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X3	XP_011541145.1:p.Arg1618P… XP_011541145.1:p.Arg1618Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X11	XM_011542843.3:c.4853G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X3	XP_011541145.1:p.Arg1618L… XP_011541145.1:p.Arg1618Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X12	XM_011542844.4:c.3809G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg1270G… XP_011541146.1:p.Arg1270Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X12	XM_011542844.4:c.3809G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg1270P… XP_011541146.1:p.Arg1270Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X12	XM_011542844.4:c.3809G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg1270L… XP_011541146.1:p.Arg1270Leu	R (Arg) > L (Leu)	Missense Variant
ATM transcript variant X13	XM_006718845.3:c.809G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg270Gln	R (Arg) > Q (Gln)	Missense Variant
ATM transcript variant X13	XM_006718845.3:c.809G>C	R [CGA] > P [CCA]	Coding Sequence Variant
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg270Pro	R (Arg) > P (Pro)	Missense Variant
ATM transcript variant X13	XM_006718845.3:c.809G>T	R [CGA] > L [CTA]	Coding Sequence Variant
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg270Leu	R (Arg) > L (Leu)	Missense Variant

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.

Allele: A (allele ID: 183304 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000164315.8	Hereditary cancer-predisposing syndrome	Uncertain-Significance
RCV000228294.11	Ataxia-telangiectasia syndrome	Likely-Benign
RCV000994709.10	not provided	Uncertain-Significance

Allele: T (allele ID: 475646 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000562705.1	Hereditary cancer-predisposing syndrome	Uncertain-Significance

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=	A	C	T
GRCh38.p14 chr 11	NC_000011.10:g.108295003=	NC_000011.10:g.108295003G>A	NC_000011.10:g.108295003G>C	NC_000011.10:g.108295003G>T
GRCh37.p13 chr 11	NC_000011.9:g.108165730=	NC_000011.9:g.108165730G>A	NC_000011.9:g.108165730G>C	NC_000011.9:g.108165730G>T
ATM RefSeqGene (LRG_135)	NG_009830.1:g.77172=	NG_009830.1:g.77172G>A	NG_009830.1:g.77172G>C	NG_009830.1:g.77172G>T
ATM transcript variant 2	NM_000051.4:c.4853=	NM_000051.4:c.4853G>A	NM_000051.4:c.4853G>C	NM_000051.4:c.4853G>T
ATM transcript variant 2	NM_000051.3:c.4853=	NM_000051.3:c.4853G>A	NM_000051.3:c.4853G>C	NM_000051.3:c.4853G>T
ATM transcript variant 1	NM_001351834.2:c.4853=	NM_001351834.2:c.4853G>A	NM_001351834.2:c.4853G>C	NM_001351834.2:c.4853G>T
ATM transcript variant 1	NM_001351834.1:c.4853=	NM_001351834.1:c.4853G>A	NM_001351834.1:c.4853G>C	NM_001351834.1:c.4853G>T
ATM transcript variant X3	XM_005271562.6:c.4853=	XM_005271562.6:c.4853G>A	XM_005271562.6:c.4853G>C	XM_005271562.6:c.4853G>T
ATM transcript variant X4	XM_005271562.5:c.4853=	XM_005271562.5:c.4853G>A	XM_005271562.5:c.4853G>C	XM_005271562.5:c.4853G>T
ATM transcript variant X5	XM_005271562.4:c.4853=	XM_005271562.4:c.4853G>A	XM_005271562.4:c.4853G>C	XM_005271562.4:c.4853G>T
ATM transcript variant X4	XM_005271562.3:c.4853=	XM_005271562.3:c.4853G>A	XM_005271562.3:c.4853G>C	XM_005271562.3:c.4853G>T
ATM transcript variant X2	XM_005271562.2:c.4853=	XM_005271562.2:c.4853G>A	XM_005271562.2:c.4853G>C	XM_005271562.2:c.4853G>T
ATM transcript variant X2	XM_005271562.1:c.4853=	XM_005271562.1:c.4853G>A	XM_005271562.1:c.4853G>C	XM_005271562.1:c.4853G>T
ATM transcript variant X1	XM_006718843.5:c.4853=	XM_006718843.5:c.4853G>A	XM_006718843.5:c.4853G>C	XM_006718843.5:c.4853G>T
ATM transcript variant X2	XM_006718843.4:c.4853=	XM_006718843.4:c.4853G>A	XM_006718843.4:c.4853G>C	XM_006718843.4:c.4853G>T
ATM transcript variant X3	XM_006718843.3:c.4853=	XM_006718843.3:c.4853G>A	XM_006718843.3:c.4853G>C	XM_006718843.3:c.4853G>T
ATM transcript variant X5	XM_006718843.2:c.4853=	XM_006718843.2:c.4853G>A	XM_006718843.2:c.4853G>C	XM_006718843.2:c.4853G>T
ATM transcript variant X5	XM_006718843.1:c.4853=	XM_006718843.1:c.4853G>A	XM_006718843.1:c.4853G>C	XM_006718843.1:c.4853G>T
ATM transcript variant X4	XM_011542840.4:c.4853=	XM_011542840.4:c.4853G>A	XM_011542840.4:c.4853G>C	XM_011542840.4:c.4853G>T
ATM transcript variant X1	XM_011542840.3:c.4853=	XM_011542840.3:c.4853G>A	XM_011542840.3:c.4853G>C	XM_011542840.3:c.4853G>T
ATM transcript variant X2	XM_011542840.2:c.4853=	XM_011542840.2:c.4853G>A	XM_011542840.2:c.4853G>C	XM_011542840.2:c.4853G>T
ATM transcript variant X2	XM_011542840.1:c.4853=	XM_011542840.1:c.4853G>A	XM_011542840.1:c.4853G>C	XM_011542840.1:c.4853G>T
ATM transcript variant X7	XM_011542842.4:c.4688=	XM_011542842.4:c.4688G>A	XM_011542842.4:c.4688G>C	XM_011542842.4:c.4688G>T
ATM transcript variant X6	XM_011542842.3:c.4688=	XM_011542842.3:c.4688G>A	XM_011542842.3:c.4688G>C	XM_011542842.3:c.4688G>T
ATM transcript variant X7	XM_011542842.2:c.4688=	XM_011542842.2:c.4688G>A	XM_011542842.2:c.4688G>C	XM_011542842.2:c.4688G>T
ATM transcript variant X6	XM_011542842.1:c.4688=	XM_011542842.1:c.4688G>A	XM_011542842.1:c.4688G>C	XM_011542842.1:c.4688G>T
ATM transcript variant X12	XM_011542844.4:c.3809=	XM_011542844.4:c.3809G>A	XM_011542844.4:c.3809G>C	XM_011542844.4:c.3809G>T
ATM transcript variant X8	XM_011542844.3:c.3809=	XM_011542844.3:c.3809G>A	XM_011542844.3:c.3809G>C	XM_011542844.3:c.3809G>T
ATM transcript variant X9	XM_011542844.2:c.3809=	XM_011542844.2:c.3809G>A	XM_011542844.2:c.3809G>C	XM_011542844.2:c.3809G>T
ATM transcript variant X8	XM_011542844.1:c.3809=	XM_011542844.1:c.3809G>A	XM_011542844.1:c.3809G>C	XM_011542844.1:c.3809G>T
ATM transcript variant X5	XM_017017790.3:c.4853=	XM_017017790.3:c.4853G>A	XM_017017790.3:c.4853G>C	XM_017017790.3:c.4853G>T
ATM transcript variant X5	XM_017017790.2:c.4853=	XM_017017790.2:c.4853G>A	XM_017017790.2:c.4853G>C	XM_017017790.2:c.4853G>T
ATM transcript variant X6	XM_017017790.1:c.4853=	XM_017017790.1:c.4853G>A	XM_017017790.1:c.4853G>C	XM_017017790.1:c.4853G>T
ATM transcript variant 2	NM_138292.3:c.809=	NM_138292.3:c.809G>A	NM_138292.3:c.809G>C	NM_138292.3:c.809G>T
ATM transcript variant X11	XM_011542843.3:c.4853=	XM_011542843.3:c.4853G>A	XM_011542843.3:c.4853G>C	XM_011542843.3:c.4853G>T
ATM transcript variant X7	XM_011542843.2:c.4853=	XM_011542843.2:c.4853G>A	XM_011542843.2:c.4853G>C	XM_011542843.2:c.4853G>T
ATM transcript variant X7	XM_011542843.1:c.4853=	XM_011542843.1:c.4853G>A	XM_011542843.1:c.4853G>C	XM_011542843.1:c.4853G>T
ATM transcript variant X13	XM_006718845.3:c.809=	XM_006718845.3:c.809G>A	XM_006718845.3:c.809G>C	XM_006718845.3:c.809G>T
ATM transcript variant X12	XM_006718845.2:c.809=	XM_006718845.2:c.809G>A	XM_006718845.2:c.809G>C	XM_006718845.2:c.809G>T
ATM transcript variant X13	XM_006718845.1:c.809=	XM_006718845.1:c.809G>A	XM_006718845.1:c.809G>C	XM_006718845.1:c.809G>T
ATM transcript variant 2	NM_138292.2:c.809=	NM_138292.2:c.809G>A	NM_138292.2:c.809G>C	NM_138292.2:c.809G>T
ATM transcript variant X8	XM_047426977.1:c.4688=	XM_047426977.1:c.4688G>A	XM_047426977.1:c.4688G>C	XM_047426977.1:c.4688G>T
ATM transcript variant X2	XM_047426975.1:c.4853=	XM_047426975.1:c.4853G>A	XM_047426975.1:c.4853G>C	XM_047426975.1:c.4853G>T
ATM transcript variant X10	XM_047426979.1:c.4688=	XM_047426979.1:c.4688G>A	XM_047426979.1:c.4688G>C	XM_047426979.1:c.4688G>T
ATM transcript variant X6	XM_047426976.1:c.4853=	XM_047426976.1:c.4853G>A	XM_047426976.1:c.4853G>C	XM_047426976.1:c.4853G>T
ATM transcript variant X9	XM_047426978.1:c.4688=	XM_047426978.1:c.4688G>A	XM_047426978.1:c.4688G>C	XM_047426978.1:c.4688G>T
ATM transcript variant 2	NM_138292.1:c.809=	NM_138292.1:c.809G>A	NM_138292.1:c.809G>C	NM_138292.1:c.809G>T
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg1618=	NP_000042.3:p.Arg1618Gln	NP_000042.3:p.Arg1618Pro	NP_000042.3:p.Arg1618Leu
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg1618=	NP_001338763.1:p.Arg1618Gln	NP_001338763.1:p.Arg1618Pro	NP_001338763.1:p.Arg1618Leu
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg1618=	XP_005271619.2:p.Arg1618Gln	XP_005271619.2:p.Arg1618Pro	XP_005271619.2:p.Arg1618Leu
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg1618=	XP_006718906.1:p.Arg1618Gln	XP_006718906.1:p.Arg1618Pro	XP_006718906.1:p.Arg1618Leu
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg1618=	XP_011541142.1:p.Arg1618Gln	XP_011541142.1:p.Arg1618Pro	XP_011541142.1:p.Arg1618Leu
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg1563=	XP_011541144.1:p.Arg1563Gln	XP_011541144.1:p.Arg1563Pro	XP_011541144.1:p.Arg1563Leu
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg1270=	XP_011541146.1:p.Arg1270Gln	XP_011541146.1:p.Arg1270Pro	XP_011541146.1:p.Arg1270Leu
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg1618=	XP_016873279.1:p.Arg1618Gln	XP_016873279.1:p.Arg1618Pro	XP_016873279.1:p.Arg1618Leu
serine-protein kinase ATM isoform X3	XP_011541145.1:p.Arg1618=	XP_011541145.1:p.Arg1618Gln	XP_011541145.1:p.Arg1618Pro	XP_011541145.1:p.Arg1618Leu
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg270=	XP_006718908.1:p.Arg270Gln	XP_006718908.1:p.Arg270Pro	XP_006718908.1:p.Arg270Leu
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg1563=	XP_047282933.1:p.Arg1563Gln	XP_047282933.1:p.Arg1563Pro	XP_047282933.1:p.Arg1563Leu
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg1618=	XP_047282931.1:p.Arg1618Gln	XP_047282931.1:p.Arg1618Pro	XP_047282931.1:p.Arg1618Leu
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg1563=	XP_047282935.1:p.Arg1563Gln	XP_047282935.1:p.Arg1563Pro	XP_047282935.1:p.Arg1563Leu
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg1618=	XP_047282932.1:p.Arg1618Gln	XP_047282932.1:p.Arg1618Pro	XP_047282932.1:p.Arg1618Leu
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg1563=	XP_047282934.1:p.Arg1563Gln	XP_047282934.1:p.Arg1563Pro	XP_047282934.1:p.Arg1563Leu
ATM transcript variant X14	XM_047426981.1:c.4776+1526=	XM_047426981.1:c.4776+1526G>A	XM_047426981.1:c.4776+1526G>C	XM_047426981.1:c.4776+1526G>T
serine-protein kinase ATM isoform X2	XP_005271619.1:p.Arg1618=	XP_005271619.1:p.Arg1618Gln	XP_005271619.1:p.Arg1618Pro	XP_005271619.1:p.Arg1618Leu

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#.

7 SubSNP, 5 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_EXAC	ss1690621967	Apr 01, 2015 (144)
2	CLINVAR	ss1751110240	May 21, 2015 (136)
3	GNOMAD	ss2739371137	Nov 08, 2017 (151)
4	EVA	ss3986544404	Apr 27, 2021 (155)
5	GNOMAD	ss4242139488	Apr 27, 2021 (155)
6	TOPMED	ss4899228685	Apr 27, 2021 (155)
7	EVA	ss5936070643	Oct 16, 2022 (156)
8	ExAC	NC_000011.9 - 108165730	Oct 12, 2018 (152)
9	gnomAD - Genomes	NC_000011.10 - 108295003	Apr 27, 2021 (155)
10	gnomAD - Exomes	NC_000011.9 - 108165730	Jul 13, 2019 (153)
11	TopMed	NC_000011.10 - 108295003	Apr 27, 2021 (155)
12	ALFA	NC_000011.10 - 108295003	Apr 27, 2021 (155)
13	ClinVar	RCV000164315.8	Oct 16, 2022 (156)
14	ClinVar	RCV000228294.11	Oct 16, 2022 (156)
15	ClinVar	RCV000562705.1	Oct 12, 2018 (152)
16	ClinVar	RCV000994709.10	Oct 16, 2022 (156)

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).

Associated ID	History Updated (Build)
rs786201827	Jun 25, 2015 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
896984, 8589127, ss1690621967, ss2739371137, ss3986544404, ss5936070643	NC_000011.9:108165729:G:A	NC_000011.10:108295002:G:A	(self)
RCV000164315.8, RCV000228294.11, RCV000994709.10, 391355563, 114774341, 3100885359, ss1751110240, ss4242139488, ss4899228685	NC_000011.10:108295002:G:A	NC_000011.10:108295002:G:A	(self)
ss5936070643	NC_000011.9:108165729:G:C	NC_000011.10:108295002:G:C
ss5936070643	NC_000011.9:108165729:G:T	NC_000011.10:108295002:G:T
RCV000562705.1	NC_000011.10:108295002:G:T	NC_000011.10:108295002:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs765759912

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs765759912