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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.

rs1470755915

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:92005229 (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>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00007 (1/15150, ALFA)
A=0.0002 (1/4480, Estonian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RUNX1T1 : 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 15150 C=0.99993 A=0.00007, G=0.00000 0.999868 0.0 0.000132 0
European Sub 11424 C=0.99991 A=0.00009, G=0.00000 0.999825 0.0 0.000175 0
African Sub 2294 C=1.0000 A=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 A=0.0000, G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Sub 474 C=1.000 A=0.000, G=0.000 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
Allele Frequency Aggregator Total Global 15150 C=0.99993 A=0.00007, G=0.00000
Allele Frequency Aggregator European Sub 11424 C=0.99991 A=0.00009, G=0.00000
Allele Frequency Aggregator African Sub 2294 C=1.0000 A=0.0000, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Other Sub 474 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 A=0.00, G=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 A=0.0002
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 8 NC_000008.11:g.92005229C>A
GRCh38.p14 chr 8 NC_000008.11:g.92005229C>G
GRCh37.p13 chr 8 NC_000008.10:g.93017457C>A
GRCh37.p13 chr 8 NC_000008.10:g.93017457C>G
RUNX1T1 RefSeqGene NG_023272.3:g.102998G>T
RUNX1T1 RefSeqGene NG_023272.3:g.102998G>C
Gene: RUNX1T1, RUNX1 partner transcriptional co-repressor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RUNX1T1 transcript variant 4 NM_175636.2:c.516G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform C NP_783554.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 4 NM_175636.2:c.516G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform C NP_783554.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 11 NM_001198630.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185559.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 11 NM_001198630.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185559.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 2 NM_175634.3:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_783552.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 2 NM_175634.3:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_783552.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 5 NM_001198625.2:c.546G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform A NP_001185554.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 5 NM_001198625.2:c.546G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform A NP_001185554.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 14 NM_001198634.2:c.660G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform E NP_001185563.1:p.Gln220His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 14 NM_001198634.2:c.660G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform E NP_001185563.1:p.Gln220His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 10 NM_001198629.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185558.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 10 NM_001198629.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185558.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 1 NM_004349.4:c.546G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform A NP_004340.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 1 NM_004349.4:c.546G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform A NP_004340.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 3 NM_175635.3:c.516G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform C NP_783553.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 3 NM_175635.3:c.516G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform C NP_783553.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 13 NM_001198633.2:c.567G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform D NP_001185562.1:p.Gln189His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 13 NM_001198633.2:c.567G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform D NP_001185562.1:p.Gln189His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 12 NM_001198631.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185560.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 12 NM_001198631.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185560.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 6 NM_001198632.2:c.546G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform A NP_001185561.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 6 NM_001198632.2:c.546G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform A NP_001185561.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 7 NM_001198626.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185555.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 7 NM_001198626.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185555.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 8 NM_001198627.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185556.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 8 NM_001198627.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185556.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 9 NM_001198628.2:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185557.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 9 NM_001198628.2:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform B NP_001185557.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 16 NM_001395209.1:c.711G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform G NP_001382138.1:p.Gln237His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 16 NM_001395209.1:c.711G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform G NP_001382138.1:p.Gln237His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 15 NM_001198679.3:c.804G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform F NP_001185608.1:p.Gln268His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant 15 NM_001198679.3:c.804G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform F NP_001185608.1:p.Gln268His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X9 XM_017013939.2:c. N/A Genic Upstream Transcript Variant
RUNX1T1 transcript variant X10 XM_017013940.2:c. N/A Genic Upstream Transcript Variant
RUNX1T1 transcript variant X11 XM_017013941.2:c. N/A Genic Upstream Transcript Variant
RUNX1T1 transcript variant X1 XM_047422373.1:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X1 XP_047278329.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X1 XM_047422373.1:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X1 XP_047278329.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X2 XM_011517351.3:c.627G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X1 XP_011515653.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X2 XM_011517351.3:c.627G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X1 XP_011515653.1:p.Gln209His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X3 XM_017013936.2:c.516G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X2 XP_016869425.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X3 XM_017013936.2:c.516G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X2 XP_016869425.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X4 XM_024447318.2:c.516G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X2 XP_024303086.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X4 XM_024447318.2:c.516G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X2 XP_024303086.1:p.Gln172His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X5 XM_017013938.2:c.804G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X3 XP_016869427.1:p.Gln268His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X5 XM_017013938.2:c.804G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X3 XP_016869427.1:p.Gln268His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X7 XM_047422374.1:c.567G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X4 XP_047278330.1:p.Gln189His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X7 XM_047422374.1:c.567G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X4 XP_047278330.1:p.Gln189His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X8 XM_047422375.1:c.546G>T Q [CAG] > H [CAT] Coding Sequence Variant
protein CBFA2T1 isoform X5 XP_047278331.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X8 XM_047422375.1:c.546G>C Q [CAG] > H [CAC] Coding Sequence Variant
protein CBFA2T1 isoform X5 XP_047278331.1:p.Gln182His Q (Gln) > H (His) Missense Variant
RUNX1T1 transcript variant X6 XR_007060758.1:n.970G>T N/A Non Coding Transcript Variant
RUNX1T1 transcript variant X6 XR_007060758.1:n.970G>C 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 C= A G
GRCh38.p14 chr 8 NC_000008.11:g.92005229= NC_000008.11:g.92005229C>A NC_000008.11:g.92005229C>G
GRCh37.p13 chr 8 NC_000008.10:g.93017457= NC_000008.10:g.93017457C>A NC_000008.10:g.93017457C>G
RUNX1T1 RefSeqGene NG_023272.3:g.102998= NG_023272.3:g.102998G>T NG_023272.3:g.102998G>C
RUNX1T1 transcript variant 1 NM_004349.4:c.546= NM_004349.4:c.546G>T NM_004349.4:c.546G>C
RUNX1T1 transcript variant 1 NM_004349.3:c.546= NM_004349.3:c.546G>T NM_004349.3:c.546G>C
RUNX1T1 transcript variant 2 NM_175634.3:c.627= NM_175634.3:c.627G>T NM_175634.3:c.627G>C
RUNX1T1 transcript variant 2 NM_175634.2:c.627= NM_175634.2:c.627G>T NM_175634.2:c.627G>C
RUNX1T1 transcript variant 15 NM_001198679.3:c.804= NM_001198679.3:c.804G>T NM_001198679.3:c.804G>C
RUNX1T1 transcript variant 15 NM_001198679.2:c.804= NM_001198679.2:c.804G>T NM_001198679.2:c.804G>C
RUNX1T1 transcript variant 15 NM_001198679.1:c.804= NM_001198679.1:c.804G>T NM_001198679.1:c.804G>C
RUNX1T1 transcript variant 3 NM_175635.3:c.516= NM_175635.3:c.516G>T NM_175635.3:c.516G>C
RUNX1T1 transcript variant 3 NM_175635.2:c.516= NM_175635.2:c.516G>T NM_175635.2:c.516G>C
RUNX1T1 transcript variant 5 NM_001198625.2:c.546= NM_001198625.2:c.546G>T NM_001198625.2:c.546G>C
RUNX1T1 transcript variant 5 NM_001198625.1:c.546= NM_001198625.1:c.546G>T NM_001198625.1:c.546G>C
RUNX1T1 transcript variant 13 NM_001198633.2:c.567= NM_001198633.2:c.567G>T NM_001198633.2:c.567G>C
RUNX1T1 transcript variant 13 NM_001198633.1:c.567= NM_001198633.1:c.567G>T NM_001198633.1:c.567G>C
RUNX1T1 transcript variant 8 NM_001198627.2:c.627= NM_001198627.2:c.627G>T NM_001198627.2:c.627G>C
RUNX1T1 transcript variant 8 NM_001198627.1:c.627= NM_001198627.1:c.627G>T NM_001198627.1:c.627G>C
RUNX1T1 transcript variant 7 NM_001198626.2:c.627= NM_001198626.2:c.627G>T NM_001198626.2:c.627G>C
RUNX1T1 transcript variant 7 NM_001198626.1:c.627= NM_001198626.1:c.627G>T NM_001198626.1:c.627G>C
RUNX1T1 transcript variant 11 NM_001198630.2:c.627= NM_001198630.2:c.627G>T NM_001198630.2:c.627G>C
RUNX1T1 transcript variant 11 NM_001198630.1:c.627= NM_001198630.1:c.627G>T NM_001198630.1:c.627G>C
RUNX1T1 transcript variant 10 NM_001198629.2:c.627= NM_001198629.2:c.627G>T NM_001198629.2:c.627G>C
RUNX1T1 transcript variant 10 NM_001198629.1:c.627= NM_001198629.1:c.627G>T NM_001198629.1:c.627G>C
RUNX1T1 transcript variant 6 NM_001198632.2:c.546= NM_001198632.2:c.546G>T NM_001198632.2:c.546G>C
RUNX1T1 transcript variant 6 NM_001198632.1:c.546= NM_001198632.1:c.546G>T NM_001198632.1:c.546G>C
RUNX1T1 transcript variant 4 NM_175636.2:c.516= NM_175636.2:c.516G>T NM_175636.2:c.516G>C
RUNX1T1 transcript variant 12 NM_001198631.2:c.627= NM_001198631.2:c.627G>T NM_001198631.2:c.627G>C
RUNX1T1 transcript variant 12 NM_001198631.1:c.627= NM_001198631.1:c.627G>T NM_001198631.1:c.627G>C
RUNX1T1 transcript variant 9 NM_001198628.2:c.627= NM_001198628.2:c.627G>T NM_001198628.2:c.627G>C
RUNX1T1 transcript variant 9 NM_001198628.1:c.627= NM_001198628.1:c.627G>T NM_001198628.1:c.627G>C
RUNX1T1 transcript variant 14 NM_001198634.2:c.660= NM_001198634.2:c.660G>T NM_001198634.2:c.660G>C
RUNX1T1 transcript variant 14 NM_001198634.1:c.660= NM_001198634.1:c.660G>T NM_001198634.1:c.660G>C
RUNX1T1 transcript variant 16 NM_001395209.1:c.711= NM_001395209.1:c.711G>T NM_001395209.1:c.711G>C
RUNX1T1 transcript variant X2 XM_011517351.3:c.627= XM_011517351.3:c.627G>T XM_011517351.3:c.627G>C
RUNX1T1 transcript variant X2 XM_011517351.2:c.627= XM_011517351.2:c.627G>T XM_011517351.2:c.627G>C
RUNX1T1 transcript variant X1 XM_011517351.1:c.627= XM_011517351.1:c.627G>T XM_011517351.1:c.627G>C
RUNX1T1 transcript variant X4 XM_024447318.2:c.516= XM_024447318.2:c.516G>T XM_024447318.2:c.516G>C
RUNX1T1 transcript variant X13 XM_024447318.1:c.516= XM_024447318.1:c.516G>T XM_024447318.1:c.516G>C
RUNX1T1 transcript variant X3 XM_017013936.2:c.516= XM_017013936.2:c.516G>T XM_017013936.2:c.516G>C
RUNX1T1 transcript variant X9 XM_017013936.1:c.516= XM_017013936.1:c.516G>T XM_017013936.1:c.516G>C
RUNX1T1 transcript variant X5 XM_017013938.2:c.804= XM_017013938.2:c.804G>T XM_017013938.2:c.804G>C
RUNX1T1 transcript variant X15 XM_017013938.1:c.804= XM_017013938.1:c.804G>T XM_017013938.1:c.804G>C
RUNX1T1 transcript variant X1 XM_047422373.1:c.627= XM_047422373.1:c.627G>T XM_047422373.1:c.627G>C
RUNX1T1 transcript variant X7 XM_047422374.1:c.567= XM_047422374.1:c.567G>T XM_047422374.1:c.567G>C
RUNX1T1 transcript variant X8 XM_047422375.1:c.546= XM_047422375.1:c.546G>T XM_047422375.1:c.546G>C
RUNX1T1 transcript variant X6 XR_007060758.1:n.970= XR_007060758.1:n.970G>T XR_007060758.1:n.970G>C
protein CBFA2T1 isoform A NP_004340.1:p.Gln182= NP_004340.1:p.Gln182His NP_004340.1:p.Gln182His
protein CBFA2T1 isoform B NP_783552.1:p.Gln209= NP_783552.1:p.Gln209His NP_783552.1:p.Gln209His
protein CBFA2T1 isoform F NP_001185608.1:p.Gln268= NP_001185608.1:p.Gln268His NP_001185608.1:p.Gln268His
protein CBFA2T1 isoform C NP_783553.1:p.Gln172= NP_783553.1:p.Gln172His NP_783553.1:p.Gln172His
protein CBFA2T1 isoform A NP_001185554.1:p.Gln182= NP_001185554.1:p.Gln182His NP_001185554.1:p.Gln182His
protein CBFA2T1 isoform D NP_001185562.1:p.Gln189= NP_001185562.1:p.Gln189His NP_001185562.1:p.Gln189His
protein CBFA2T1 isoform B NP_001185556.1:p.Gln209= NP_001185556.1:p.Gln209His NP_001185556.1:p.Gln209His
protein CBFA2T1 isoform B NP_001185555.1:p.Gln209= NP_001185555.1:p.Gln209His NP_001185555.1:p.Gln209His
protein CBFA2T1 isoform B NP_001185559.1:p.Gln209= NP_001185559.1:p.Gln209His NP_001185559.1:p.Gln209His
protein CBFA2T1 isoform B NP_001185558.1:p.Gln209= NP_001185558.1:p.Gln209His NP_001185558.1:p.Gln209His
protein CBFA2T1 isoform A NP_001185561.1:p.Gln182= NP_001185561.1:p.Gln182His NP_001185561.1:p.Gln182His
protein CBFA2T1 isoform C NP_783554.1:p.Gln172= NP_783554.1:p.Gln172His NP_783554.1:p.Gln172His
protein CBFA2T1 isoform B NP_001185560.1:p.Gln209= NP_001185560.1:p.Gln209His NP_001185560.1:p.Gln209His
protein CBFA2T1 isoform B NP_001185557.1:p.Gln209= NP_001185557.1:p.Gln209His NP_001185557.1:p.Gln209His
protein CBFA2T1 isoform E NP_001185563.1:p.Gln220= NP_001185563.1:p.Gln220His NP_001185563.1:p.Gln220His
protein CBFA2T1 isoform G NP_001382138.1:p.Gln237= NP_001382138.1:p.Gln237His NP_001382138.1:p.Gln237His
protein CBFA2T1 isoform X1 XP_011515653.1:p.Gln209= XP_011515653.1:p.Gln209His XP_011515653.1:p.Gln209His
protein CBFA2T1 isoform X2 XP_024303086.1:p.Gln172= XP_024303086.1:p.Gln172His XP_024303086.1:p.Gln172His
protein CBFA2T1 isoform X2 XP_016869425.1:p.Gln172= XP_016869425.1:p.Gln172His XP_016869425.1:p.Gln172His
protein CBFA2T1 isoform X3 XP_016869427.1:p.Gln268= XP_016869427.1:p.Gln268His XP_016869427.1:p.Gln268His
protein CBFA2T1 isoform X1 XP_047278329.1:p.Gln209= XP_047278329.1:p.Gln209His XP_047278329.1:p.Gln209His
protein CBFA2T1 isoform X4 XP_047278330.1:p.Gln189= XP_047278330.1:p.Gln189His XP_047278330.1:p.Gln189His
protein CBFA2T1 isoform X5 XP_047278331.1:p.Gln182= XP_047278331.1:p.Gln182His XP_047278331.1:p.Gln182His
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, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748074564 Nov 08, 2017 (151)
2 GNOMAD ss2869910613 Nov 08, 2017 (151)
3 EGCUT_WGS ss3671314301 Jul 13, 2019 (153)
4 Genetic variation in the Estonian population NC_000008.10 - 93017457 Oct 12, 2018 (152)
5 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 304020929 (NC_000008.11:92005228:C:A 1/140210)
Row 304020930 (NC_000008.11:92005228:C:G 1/140210)

- Apr 26, 2021 (155)
6 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 304020929 (NC_000008.11:92005228:C:A 1/140210)
Row 304020930 (NC_000008.11:92005228:C:G 1/140210)

- Apr 26, 2021 (155)
7 ALFA NC_000008.11 - 92005229 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
17052549, ss2748074564, ss2869910613, ss3671314301 NC_000008.10:93017456:C:A NC_000008.11:92005228:C:A (self)
8023698709 NC_000008.11:92005228:C:A NC_000008.11:92005228:C:A (self)
8023698709 NC_000008.11:92005228:C:G NC_000008.11:92005228:C:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1470755915

Help

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

Genome context:
Select flank length:

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

Software version is: 2.0.1.post820+afb47a3d