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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.

rs1471014779

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:107728825 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000012 (3/250988, GnomAD_exome)
A=0.00005 (1/21380, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BBX : 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 21380 C=0.99995 A=0.00005 0.999906 0.0 9.4e-05 0
European Sub 16896 C=1.00000 A=0.00000 1.0 0.0 0.0 N/A
African Sub 20 C=1.00 A=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 C=0 A=0 0 0 0 N/A
African American Sub 20 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 C=0 A=0 0 0 0 N/A
East Asian Sub 0 C=0 A=0 0 0 0 N/A
Other Asian Sub 0 C=0 A=0 0 0 0 N/A
Latin American 1 Sub 354 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 C=1.00 A=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 C=0 A=0 0 0 0 N/A
Other Sub 4092 C=0.9998 A=0.0002 0.999511 0.0 0.000489 0


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
gnomAD - Exomes Global Study-wide 250988 C=0.999988 A=0.000012
gnomAD - Exomes European Sub 135030 C=0.999978 A=0.000022
gnomAD - Exomes Asian Sub 48982 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 34536 C=1.00000 A=0.00000
gnomAD - Exomes African Sub 16248 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 C=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6122 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 21380 C=0.99995 A=0.00005
Allele Frequency Aggregator European Sub 16896 C=1.00000 A=0.00000
Allele Frequency Aggregator Other Sub 4092 C=0.9998 A=0.0002
Allele Frequency Aggregator Latin American 1 Sub 354 C=1.000 A=0.000
Allele Frequency Aggregator African Sub 20 C=1.00 A=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 C=1.00 A=0.00
Allele Frequency Aggregator South Asian Sub 0 C=0 A=0
Allele Frequency Aggregator Asian Sub 0 C=0 A=0
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 3 NC_000003.12:g.107728825C>A
GRCh38.p14 chr 3 NC_000003.12:g.107728825C>T
GRCh37.p13 chr 3 NC_000003.11:g.107447672C>A
GRCh37.p13 chr 3 NC_000003.11:g.107447672C>T
Gene: BBX, BBX high mobility group box domain containing (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BBX transcript variant 1 NM_001142568.3:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform 1 NP_001136040.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant 1 NM_001142568.3:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform 1 NP_001136040.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant 3 NM_001276286.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform 3 NP_001263215.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant 3 NM_001276286.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform 3 NP_001263215.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant 2 NM_020235.7:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform 2 NP_064620.2:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant 2 NM_020235.7:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform 2 NP_064620.2:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X1 XM_024453644.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X1 XP_024309412.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X1 XM_024453644.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X1 XP_024309412.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X2 XM_024453645.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X2 XP_024309413.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X2 XM_024453645.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X2 XP_024309413.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X3 XM_005247644.5:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247701.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X3 XM_005247644.5:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247701.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X4 XM_024453646.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309414.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X4 XM_024453646.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309414.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X5 XM_005247642.5:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247699.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X5 XM_005247642.5:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247699.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X6 XM_005247643.5:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247700.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X6 XM_005247643.5:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_005247700.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X7 XM_024453648.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309416.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X7 XM_024453648.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309416.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X8 XM_024453647.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309415.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X8 XM_024453647.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309415.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X9 XM_011513001.3:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_011511303.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X9 XM_011513001.3:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_011511303.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X10 XM_024453651.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309419.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X10 XM_024453651.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309419.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X11 XM_047448597.1:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_047304553.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X11 XM_047448597.1:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_047304553.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X12 XM_024453653.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309421.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X12 XM_024453653.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309421.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X13 XM_024453649.2:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309417.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X13 XM_024453649.2:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_024309417.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X14 XM_011513000.3:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_011511302.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X14 XM_011513000.3:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X3 XP_011511302.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X15 XM_024453656.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X4 XP_024309424.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X15 XM_024453656.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X4 XP_024309424.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X16 XM_047448598.1:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X5 XP_047304554.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X16 XM_047448598.1:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X5 XP_047304554.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X17 XM_024453657.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X6 XP_024309425.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X17 XM_024453657.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X6 XP_024309425.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X18 XM_024453658.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X7 XP_024309426.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X18 XM_024453658.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X7 XP_024309426.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X19 XM_047448599.1:c.466C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X8 XP_047304555.1:p.Pro156Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X19 XM_047448599.1:c.466C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X8 XP_047304555.1:p.Pro156Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X20 XM_024453661.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X9 XP_024309429.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X20 XM_024453661.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X9 XP_024309429.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X21 XM_047448600.1:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X10 XP_047304556.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X21 XM_047448600.1:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X10 XP_047304556.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X22 XM_024453662.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X11 XP_024309430.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X22 XM_024453662.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X11 XP_024309430.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X23 XM_024453663.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X12 XP_024309431.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X23 XM_024453663.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X12 XP_024309431.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X24 XM_024453664.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X13 XP_024309432.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X24 XM_024453664.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X13 XP_024309432.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X25 XM_024453665.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X14 XP_024309433.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X25 XM_024453665.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X14 XP_024309433.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
BBX transcript variant X26 XM_024453667.2:c.502C>A P [CCT] > T [ACT] Coding Sequence Variant
HMG box transcription factor BBX isoform X15 XP_024309435.1:p.Pro168Thr P (Pro) > T (Thr) Missense Variant
BBX transcript variant X26 XM_024453667.2:c.502C>T P [CCT] > S [TCT] Coding Sequence Variant
HMG box transcription factor BBX isoform X15 XP_024309435.1:p.Pro168Ser P (Pro) > S (Ser) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 3 NC_000003.12:g.107728825= NC_000003.12:g.107728825C>A NC_000003.12:g.107728825C>T
GRCh37.p13 chr 3 NC_000003.11:g.107447672= NC_000003.11:g.107447672C>A NC_000003.11:g.107447672C>T
BBX transcript variant 2 NM_020235.7:c.466= NM_020235.7:c.466C>A NM_020235.7:c.466C>T
BBX transcript variant 2 NM_020235.6:c.466= NM_020235.6:c.466C>A NM_020235.6:c.466C>T
BBX transcript variant X5 XM_005247642.5:c.466= XM_005247642.5:c.466C>A XM_005247642.5:c.466C>T
BBX transcript variant X3 XM_005247642.4:c.466= XM_005247642.4:c.466C>A XM_005247642.4:c.466C>T
BBX transcript variant X1 XM_005247642.3:c.466= XM_005247642.3:c.466C>A XM_005247642.3:c.466C>T
BBX transcript variant X2 XM_005247642.2:c.466= XM_005247642.2:c.466C>A XM_005247642.2:c.466C>T
BBX transcript variant X2 XM_005247642.1:c.466= XM_005247642.1:c.466C>A XM_005247642.1:c.466C>T
BBX transcript variant X3 XM_005247644.5:c.466= XM_005247644.5:c.466C>A XM_005247644.5:c.466C>T
BBX transcript variant X8 XM_005247644.4:c.466= XM_005247644.4:c.466C>A XM_005247644.4:c.466C>T
BBX transcript variant X3 XM_005247644.3:c.466= XM_005247644.3:c.466C>A XM_005247644.3:c.466C>T
BBX transcript variant X4 XM_005247644.2:c.466= XM_005247644.2:c.466C>A XM_005247644.2:c.466C>T
BBX transcript variant X4 XM_005247644.1:c.466= XM_005247644.1:c.466C>A XM_005247644.1:c.466C>T
BBX transcript variant X6 XM_005247643.5:c.466= XM_005247643.5:c.466C>A XM_005247643.5:c.466C>T
BBX transcript variant X5 XM_005247643.4:c.466= XM_005247643.4:c.466C>A XM_005247643.4:c.466C>T
BBX transcript variant X2 XM_005247643.3:c.466= XM_005247643.3:c.466C>A XM_005247643.3:c.466C>T
BBX transcript variant X3 XM_005247643.2:c.466= XM_005247643.2:c.466C>A XM_005247643.2:c.466C>T
BBX transcript variant X3 XM_005247643.1:c.466= XM_005247643.1:c.466C>A XM_005247643.1:c.466C>T
BBX transcript variant X9 XM_011513001.3:c.466= XM_011513001.3:c.466C>A XM_011513001.3:c.466C>T
BBX transcript variant X11 XM_011513001.2:c.466= XM_011513001.2:c.466C>A XM_011513001.2:c.466C>T
BBX transcript variant X5 XM_011513001.1:c.466= XM_011513001.1:c.466C>A XM_011513001.1:c.466C>T
BBX transcript variant 1 NM_001142568.3:c.466= NM_001142568.3:c.466C>A NM_001142568.3:c.466C>T
BBX transcript variant 1 NM_001142568.2:c.466= NM_001142568.2:c.466C>A NM_001142568.2:c.466C>T
BBX transcript variant X14 XM_011513000.3:c.466= XM_011513000.3:c.466C>A XM_011513000.3:c.466C>T
BBX transcript variant X10 XM_011513000.2:c.466= XM_011513000.2:c.466C>A XM_011513000.2:c.466C>T
BBX transcript variant X4 XM_011513000.1:c.466= XM_011513000.1:c.466C>A XM_011513000.1:c.466C>T
BBX transcript variant X1 XM_024453644.2:c.502= XM_024453644.2:c.502C>A XM_024453644.2:c.502C>T
BBX transcript variant X1 XM_024453644.1:c.502= XM_024453644.1:c.502C>A XM_024453644.1:c.502C>T
BBX transcript variant X2 XM_024453645.2:c.502= XM_024453645.2:c.502C>A XM_024453645.2:c.502C>T
BBX transcript variant X2 XM_024453645.1:c.502= XM_024453645.1:c.502C>A XM_024453645.1:c.502C>T
BBX transcript variant X15 XM_024453656.2:c.502= XM_024453656.2:c.502C>A XM_024453656.2:c.502C>T
BBX transcript variant X19 XM_024453656.1:c.502= XM_024453656.1:c.502C>A XM_024453656.1:c.502C>T
BBX transcript variant X17 XM_024453657.2:c.502= XM_024453657.2:c.502C>A XM_024453657.2:c.502C>T
BBX transcript variant X20 XM_024453657.1:c.502= XM_024453657.1:c.502C>A XM_024453657.1:c.502C>T
BBX transcript variant X18 XM_024453658.2:c.502= XM_024453658.2:c.502C>A XM_024453658.2:c.502C>T
BBX transcript variant X21 XM_024453658.1:c.502= XM_024453658.1:c.502C>A XM_024453658.1:c.502C>T
BBX transcript variant X20 XM_024453661.2:c.502= XM_024453661.2:c.502C>A XM_024453661.2:c.502C>T
BBX transcript variant X26 XM_024453661.1:c.502= XM_024453661.1:c.502C>A XM_024453661.1:c.502C>T
BBX transcript variant X4 XM_024453646.2:c.466= XM_024453646.2:c.466C>A XM_024453646.2:c.466C>T
BBX transcript variant X4 XM_024453646.1:c.466= XM_024453646.1:c.466C>A XM_024453646.1:c.466C>T
BBX transcript variant X8 XM_024453647.2:c.466= XM_024453647.2:c.466C>A XM_024453647.2:c.466C>T
BBX transcript variant X6 XM_024453647.1:c.466= XM_024453647.1:c.466C>A XM_024453647.1:c.466C>T
BBX transcript variant X10 XM_024453651.2:c.466= XM_024453651.2:c.466C>A XM_024453651.2:c.466C>T
BBX transcript variant X13 XM_024453651.1:c.466= XM_024453651.1:c.466C>A XM_024453651.1:c.466C>T
BBX transcript variant X13 XM_024453649.2:c.466= XM_024453649.2:c.466C>A XM_024453649.2:c.466C>T
BBX transcript variant X9 XM_024453649.1:c.466= XM_024453649.1:c.466C>A XM_024453649.1:c.466C>T
BBX transcript variant X7 XM_024453648.2:c.466= XM_024453648.2:c.466C>A XM_024453648.2:c.466C>T
BBX transcript variant X7 XM_024453648.1:c.466= XM_024453648.1:c.466C>A XM_024453648.1:c.466C>T
BBX transcript variant X22 XM_024453662.2:c.502= XM_024453662.2:c.502C>A XM_024453662.2:c.502C>T
BBX transcript variant X27 XM_024453662.1:c.502= XM_024453662.1:c.502C>A XM_024453662.1:c.502C>T
BBX transcript variant X23 XM_024453663.2:c.502= XM_024453663.2:c.502C>A XM_024453663.2:c.502C>T
BBX transcript variant X28 XM_024453663.1:c.502= XM_024453663.1:c.502C>A XM_024453663.1:c.502C>T
BBX transcript variant X12 XM_024453653.2:c.466= XM_024453653.2:c.466C>A XM_024453653.2:c.466C>T
BBX transcript variant X15 XM_024453653.1:c.466= XM_024453653.1:c.466C>A XM_024453653.1:c.466C>T
BBX transcript variant X24 XM_024453664.2:c.502= XM_024453664.2:c.502C>A XM_024453664.2:c.502C>T
BBX transcript variant X29 XM_024453664.1:c.502= XM_024453664.1:c.502C>A XM_024453664.1:c.502C>T
BBX transcript variant X25 XM_024453665.2:c.502= XM_024453665.2:c.502C>A XM_024453665.2:c.502C>T
BBX transcript variant X30 XM_024453665.1:c.502= XM_024453665.1:c.502C>A XM_024453665.1:c.502C>T
BBX transcript variant X26 XM_024453667.2:c.502= XM_024453667.2:c.502C>A XM_024453667.2:c.502C>T
BBX transcript variant X32 XM_024453667.1:c.502= XM_024453667.1:c.502C>A XM_024453667.1:c.502C>T
BBX transcript variant 3 NM_001276286.2:c.466= NM_001276286.2:c.466C>A NM_001276286.2:c.466C>T
BBX transcript variant 3 NM_001276286.1:c.466= NM_001276286.1:c.466C>A NM_001276286.1:c.466C>T
BBX transcript variant X16 XM_047448598.1:c.502= XM_047448598.1:c.502C>A XM_047448598.1:c.502C>T
BBX transcript variant X21 XM_047448600.1:c.502= XM_047448600.1:c.502C>A XM_047448600.1:c.502C>T
BBX transcript variant X11 XM_047448597.1:c.466= XM_047448597.1:c.466C>A XM_047448597.1:c.466C>T
BBX transcript variant X19 XM_047448599.1:c.466= XM_047448599.1:c.466C>A XM_047448599.1:c.466C>T
HMG box transcription factor BBX isoform 2 NP_064620.2:p.Pro156= NP_064620.2:p.Pro156Thr NP_064620.2:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_005247699.1:p.Pro156= XP_005247699.1:p.Pro156Thr XP_005247699.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_005247701.1:p.Pro156= XP_005247701.1:p.Pro156Thr XP_005247701.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_005247700.1:p.Pro156= XP_005247700.1:p.Pro156Thr XP_005247700.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_011511303.1:p.Pro156= XP_011511303.1:p.Pro156Thr XP_011511303.1:p.Pro156Ser
HMG box transcription factor BBX isoform 1 NP_001136040.1:p.Pro156= NP_001136040.1:p.Pro156Thr NP_001136040.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_011511302.1:p.Pro156= XP_011511302.1:p.Pro156Thr XP_011511302.1:p.Pro156Ser
HMG box transcription factor BBX isoform X1 XP_024309412.1:p.Pro168= XP_024309412.1:p.Pro168Thr XP_024309412.1:p.Pro168Ser
HMG box transcription factor BBX isoform X2 XP_024309413.1:p.Pro168= XP_024309413.1:p.Pro168Thr XP_024309413.1:p.Pro168Ser
HMG box transcription factor BBX isoform X4 XP_024309424.1:p.Pro168= XP_024309424.1:p.Pro168Thr XP_024309424.1:p.Pro168Ser
HMG box transcription factor BBX isoform X6 XP_024309425.1:p.Pro168= XP_024309425.1:p.Pro168Thr XP_024309425.1:p.Pro168Ser
HMG box transcription factor BBX isoform X7 XP_024309426.1:p.Pro168= XP_024309426.1:p.Pro168Thr XP_024309426.1:p.Pro168Ser
HMG box transcription factor BBX isoform X9 XP_024309429.1:p.Pro168= XP_024309429.1:p.Pro168Thr XP_024309429.1:p.Pro168Ser
HMG box transcription factor BBX isoform X3 XP_024309414.1:p.Pro156= XP_024309414.1:p.Pro156Thr XP_024309414.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_024309415.1:p.Pro156= XP_024309415.1:p.Pro156Thr XP_024309415.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_024309419.1:p.Pro156= XP_024309419.1:p.Pro156Thr XP_024309419.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_024309417.1:p.Pro156= XP_024309417.1:p.Pro156Thr XP_024309417.1:p.Pro156Ser
HMG box transcription factor BBX isoform X3 XP_024309416.1:p.Pro156= XP_024309416.1:p.Pro156Thr XP_024309416.1:p.Pro156Ser
HMG box transcription factor BBX isoform X11 XP_024309430.1:p.Pro168= XP_024309430.1:p.Pro168Thr XP_024309430.1:p.Pro168Ser
HMG box transcription factor BBX isoform X12 XP_024309431.1:p.Pro168= XP_024309431.1:p.Pro168Thr XP_024309431.1:p.Pro168Ser
HMG box transcription factor BBX isoform X3 XP_024309421.1:p.Pro156= XP_024309421.1:p.Pro156Thr XP_024309421.1:p.Pro156Ser
HMG box transcription factor BBX isoform X13 XP_024309432.1:p.Pro168= XP_024309432.1:p.Pro168Thr XP_024309432.1:p.Pro168Ser
HMG box transcription factor BBX isoform X14 XP_024309433.1:p.Pro168= XP_024309433.1:p.Pro168Thr XP_024309433.1:p.Pro168Ser
HMG box transcription factor BBX isoform X15 XP_024309435.1:p.Pro168= XP_024309435.1:p.Pro168Thr XP_024309435.1:p.Pro168Ser
HMG box transcription factor BBX isoform 3 NP_001263215.1:p.Pro156= NP_001263215.1:p.Pro156Thr NP_001263215.1:p.Pro156Ser
HMG box transcription factor BBX isoform X5 XP_047304554.1:p.Pro168= XP_047304554.1:p.Pro168Thr XP_047304554.1:p.Pro168Ser
HMG box transcription factor BBX isoform X10 XP_047304556.1:p.Pro168= XP_047304556.1:p.Pro168Thr XP_047304556.1:p.Pro168Ser
HMG box transcription factor BBX isoform X3 XP_047304553.1:p.Pro156= XP_047304553.1:p.Pro156Thr XP_047304553.1:p.Pro156Ser
HMG box transcription factor BBX isoform X8 XP_047304555.1:p.Pro156= XP_047304555.1:p.Pro156Thr XP_047304555.1:p.Pro156Ser
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733941452 Nov 08, 2017 (151)
2 EVA ss3760489898 Jul 13, 2019 (153)
3 gnomAD - Exomes NC_000003.11 - 107447672 Jul 13, 2019 (153)
4 ALFA NC_000003.12 - 107728825 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
3024745, ss2733941452 NC_000003.11:107447671:C:A NC_000003.12:107728824:C:A (self)
1983747407 NC_000003.12:107728824:C:A NC_000003.12:107728824:C:A (self)
ss3760489898 NC_000003.11:107447671:C:T NC_000003.12:107728824: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 rs1471014779

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