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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs35281292

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:76495544-76495562 (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
del(T)8 / del(T)6 / del(T)4 / delT…

del(T)8 / del(T)6 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)10 / dup(T)14

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.2888 (1670/5782, ALFA)
delT=0.3281 (1643/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ESRRB : Intron 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 5782 TTTTTTTTTTTTTTTTTTT=0.5866 TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.1233, TTTTTTTTTTTTTTTTTTTT=0.2888, TTTTTTTTTTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.620432 0.221488 0.15808 32
European Sub 4920 TTTTTTTTTTTTTTTTTTT=0.5148 TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.1449, TTTTTTTTTTTTTTTTTTTT=0.3388, TTTTTTTTTTTTTTTTTTTTT=0.0014, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.533152 0.27337 0.193478 32
African Sub 726 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 30 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 696 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 12 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 38 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 8 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 74 TTTTTTTTTTTTTTTTTTT=0.96 TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 0.918919 0.0 0.081081 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
Allele Frequency Aggregator Total Global 5782 (T)19=0.5866 del(T)8=0.0000, del(T)6=0.0000, del(T)4=0.0000, delTT=0.0000, delT=0.1233, dupT=0.2888, dupTT=0.0012, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator European Sub 4920 (T)19=0.5148 del(T)8=0.0000, del(T)6=0.0000, del(T)4=0.0000, delTT=0.0000, delT=0.1449, dupT=0.3388, dupTT=0.0014, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator African Sub 726 (T)19=1.000 del(T)8=0.000, del(T)6=0.000, del(T)4=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Other Sub 74 (T)19=0.96 del(T)8=0.00, del(T)6=0.00, del(T)4=0.00, delTT=0.00, delT=0.00, dupT=0.04, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Latin American 2 Sub 38 (T)19=1.00 del(T)8=0.00, del(T)6=0.00, del(T)4=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 12 (T)19=1.00 del(T)8=0.00, del(T)6=0.00, del(T)4=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator South Asian Sub 8 (T)19=1.0 del(T)8=0.0, del(T)6=0.0, del(T)4=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Allele Frequency Aggregator Asian Sub 4 (T)19=1.0 del(T)8=0.0, del(T)6=0.0, del(T)4=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
1000Genomes Global Study-wide 5008 (T)19=0.6719 delT=0.3281
1000Genomes African Sub 1322 (T)19=0.6982 delT=0.3018
1000Genomes East Asian Sub 1008 (T)19=0.6974 delT=0.3026
1000Genomes Europe Sub 1006 (T)19=0.6650 delT=0.3350
1000Genomes South Asian Sub 978 (T)19=0.576 delT=0.424
1000Genomes American Sub 694 (T)19=0.731 delT=0.269
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 14 NC_000014.9:g.76495555_76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495557_76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495559_76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495560_76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495561_76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495562del
GRCh38.p14 chr 14 NC_000014.9:g.76495562dup
GRCh38.p14 chr 14 NC_000014.9:g.76495561_76495562dup
GRCh38.p14 chr 14 NC_000014.9:g.76495560_76495562dup
GRCh38.p14 chr 14 NC_000014.9:g.76495559_76495562dup
GRCh38.p14 chr 14 NC_000014.9:g.76495553_76495562dup
GRCh38.p14 chr 14 NC_000014.9:g.76495549_76495562dup
GRCh37.p13 chr 14 NC_000014.8:g.76961898_76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961900_76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961902_76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961903_76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961904_76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961905del
GRCh37.p13 chr 14 NC_000014.8:g.76961905dup
GRCh37.p13 chr 14 NC_000014.8:g.76961904_76961905dup
GRCh37.p13 chr 14 NC_000014.8:g.76961903_76961905dup
GRCh37.p13 chr 14 NC_000014.8:g.76961902_76961905dup
GRCh37.p13 chr 14 NC_000014.8:g.76961896_76961905dup
GRCh37.p13 chr 14 NC_000014.8:g.76961892_76961905dup
ESRRB RefSeqGene NG_012278.2:g.129209_129216del
ESRRB RefSeqGene NG_012278.2:g.129211_129216del
ESRRB RefSeqGene NG_012278.2:g.129213_129216del
ESRRB RefSeqGene NG_012278.2:g.129214_129216del
ESRRB RefSeqGene NG_012278.2:g.129215_129216del
ESRRB RefSeqGene NG_012278.2:g.129216del
ESRRB RefSeqGene NG_012278.2:g.129216dup
ESRRB RefSeqGene NG_012278.2:g.129215_129216dup
ESRRB RefSeqGene NG_012278.2:g.129214_129216dup
ESRRB RefSeqGene NG_012278.2:g.129213_129216dup
ESRRB RefSeqGene NG_012278.2:g.129207_129216dup
ESRRB RefSeqGene NG_012278.2:g.129203_129216dup
Gene: ESRRB, estrogen related receptor beta (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ESRRB transcript variant 2 NM_001379180.1:c.1121-265…

NM_001379180.1:c.1121-2659_1121-2652del

N/A Intron Variant
ESRRB transcript variant 1 NM_004452.4:c.1058-2659_1…

NM_004452.4:c.1058-2659_1058-2652del

N/A Intron Variant
ESRRB transcript variant X1 XM_011536547.3:c.1121-265…

XM_011536547.3:c.1121-2659_1121-2652del

N/A Intron Variant
ESRRB transcript variant X3 XM_011536550.3:c.1058-265…

XM_011536550.3:c.1058-2659_1058-2652del

N/A Intron Variant
ESRRB transcript variant X4 XM_011536553.3:c.1121-265…

XM_011536553.3:c.1121-2659_1121-2652del

N/A Intron Variant
ESRRB transcript variant X5 XM_011536554.3:c.1121-265…

XM_011536554.3:c.1121-2659_1121-2652del

N/A Intron Variant
ESRRB transcript variant X6 XM_024449508.2:c.1121-265…

XM_024449508.2:c.1121-2659_1121-2652del

N/A Intron Variant
ESRRB transcript variant X2 XM_047431079.1:c.1058-265…

XM_047431079.1:c.1058-2659_1058-2652del

N/A Intron Variant
ESRRB transcript variant X7 XM_047431080.1:c.1073-265…

XM_047431080.1:c.1073-2659_1073-2652del

N/A Intron 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 (T)19= del(T)8 del(T)6 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)10 dup(T)14
GRCh38.p14 chr 14 NC_000014.9:g.76495544_76495562= NC_000014.9:g.76495555_76495562del NC_000014.9:g.76495557_76495562del NC_000014.9:g.76495559_76495562del NC_000014.9:g.76495560_76495562del NC_000014.9:g.76495561_76495562del NC_000014.9:g.76495562del NC_000014.9:g.76495562dup NC_000014.9:g.76495561_76495562dup NC_000014.9:g.76495560_76495562dup NC_000014.9:g.76495559_76495562dup NC_000014.9:g.76495553_76495562dup NC_000014.9:g.76495549_76495562dup
GRCh37.p13 chr 14 NC_000014.8:g.76961887_76961905= NC_000014.8:g.76961898_76961905del NC_000014.8:g.76961900_76961905del NC_000014.8:g.76961902_76961905del NC_000014.8:g.76961903_76961905del NC_000014.8:g.76961904_76961905del NC_000014.8:g.76961905del NC_000014.8:g.76961905dup NC_000014.8:g.76961904_76961905dup NC_000014.8:g.76961903_76961905dup NC_000014.8:g.76961902_76961905dup NC_000014.8:g.76961896_76961905dup NC_000014.8:g.76961892_76961905dup
ESRRB RefSeqGene NG_012278.2:g.129198_129216= NG_012278.2:g.129209_129216del NG_012278.2:g.129211_129216del NG_012278.2:g.129213_129216del NG_012278.2:g.129214_129216del NG_012278.2:g.129215_129216del NG_012278.2:g.129216del NG_012278.2:g.129216dup NG_012278.2:g.129215_129216dup NG_012278.2:g.129214_129216dup NG_012278.2:g.129213_129216dup NG_012278.2:g.129207_129216dup NG_012278.2:g.129203_129216dup
ESRRB transcript variant 2 NM_001379180.1:c.1121-2670= NM_001379180.1:c.1121-2659_1121-2652del NM_001379180.1:c.1121-2657_1121-2652del NM_001379180.1:c.1121-2655_1121-2652del NM_001379180.1:c.1121-2654_1121-2652del NM_001379180.1:c.1121-2653_1121-2652del NM_001379180.1:c.1121-2652del NM_001379180.1:c.1121-2652dup NM_001379180.1:c.1121-2653_1121-2652dup NM_001379180.1:c.1121-2654_1121-2652dup NM_001379180.1:c.1121-2655_1121-2652dup NM_001379180.1:c.1121-2661_1121-2652dup NM_001379180.1:c.1121-2665_1121-2652dup
ESRRB transcript NM_004452.3:c.1058-2670= NM_004452.3:c.1058-2659_1058-2652del NM_004452.3:c.1058-2657_1058-2652del NM_004452.3:c.1058-2655_1058-2652del NM_004452.3:c.1058-2654_1058-2652del NM_004452.3:c.1058-2653_1058-2652del NM_004452.3:c.1058-2652del NM_004452.3:c.1058-2652dup NM_004452.3:c.1058-2653_1058-2652dup NM_004452.3:c.1058-2654_1058-2652dup NM_004452.3:c.1058-2655_1058-2652dup NM_004452.3:c.1058-2661_1058-2652dup NM_004452.3:c.1058-2665_1058-2652dup
ESRRB transcript variant 1 NM_004452.4:c.1058-2670= NM_004452.4:c.1058-2659_1058-2652del NM_004452.4:c.1058-2657_1058-2652del NM_004452.4:c.1058-2655_1058-2652del NM_004452.4:c.1058-2654_1058-2652del NM_004452.4:c.1058-2653_1058-2652del NM_004452.4:c.1058-2652del NM_004452.4:c.1058-2652dup NM_004452.4:c.1058-2653_1058-2652dup NM_004452.4:c.1058-2654_1058-2652dup NM_004452.4:c.1058-2655_1058-2652dup NM_004452.4:c.1058-2661_1058-2652dup NM_004452.4:c.1058-2665_1058-2652dup
ESRRB transcript variant X1 XM_005267403.1:c.1121-2670= XM_005267403.1:c.1121-2659_1121-2652del XM_005267403.1:c.1121-2657_1121-2652del XM_005267403.1:c.1121-2655_1121-2652del XM_005267403.1:c.1121-2654_1121-2652del XM_005267403.1:c.1121-2653_1121-2652del XM_005267403.1:c.1121-2652del XM_005267403.1:c.1121-2652dup XM_005267403.1:c.1121-2653_1121-2652dup XM_005267403.1:c.1121-2654_1121-2652dup XM_005267403.1:c.1121-2655_1121-2652dup XM_005267403.1:c.1121-2661_1121-2652dup XM_005267403.1:c.1121-2665_1121-2652dup
ESRRB transcript variant X2 XM_005267404.1:c.1121-2670= XM_005267404.1:c.1121-2659_1121-2652del XM_005267404.1:c.1121-2657_1121-2652del XM_005267404.1:c.1121-2655_1121-2652del XM_005267404.1:c.1121-2654_1121-2652del XM_005267404.1:c.1121-2653_1121-2652del XM_005267404.1:c.1121-2652del XM_005267404.1:c.1121-2652dup XM_005267404.1:c.1121-2653_1121-2652dup XM_005267404.1:c.1121-2654_1121-2652dup XM_005267404.1:c.1121-2655_1121-2652dup XM_005267404.1:c.1121-2661_1121-2652dup XM_005267404.1:c.1121-2665_1121-2652dup
ESRRB transcript variant X1 XM_011536547.3:c.1121-2670= XM_011536547.3:c.1121-2659_1121-2652del XM_011536547.3:c.1121-2657_1121-2652del XM_011536547.3:c.1121-2655_1121-2652del XM_011536547.3:c.1121-2654_1121-2652del XM_011536547.3:c.1121-2653_1121-2652del XM_011536547.3:c.1121-2652del XM_011536547.3:c.1121-2652dup XM_011536547.3:c.1121-2653_1121-2652dup XM_011536547.3:c.1121-2654_1121-2652dup XM_011536547.3:c.1121-2655_1121-2652dup XM_011536547.3:c.1121-2661_1121-2652dup XM_011536547.3:c.1121-2665_1121-2652dup
ESRRB transcript variant X3 XM_011536550.3:c.1058-2670= XM_011536550.3:c.1058-2659_1058-2652del XM_011536550.3:c.1058-2657_1058-2652del XM_011536550.3:c.1058-2655_1058-2652del XM_011536550.3:c.1058-2654_1058-2652del XM_011536550.3:c.1058-2653_1058-2652del XM_011536550.3:c.1058-2652del XM_011536550.3:c.1058-2652dup XM_011536550.3:c.1058-2653_1058-2652dup XM_011536550.3:c.1058-2654_1058-2652dup XM_011536550.3:c.1058-2655_1058-2652dup XM_011536550.3:c.1058-2661_1058-2652dup XM_011536550.3:c.1058-2665_1058-2652dup
ESRRB transcript variant X4 XM_011536553.3:c.1121-2670= XM_011536553.3:c.1121-2659_1121-2652del XM_011536553.3:c.1121-2657_1121-2652del XM_011536553.3:c.1121-2655_1121-2652del XM_011536553.3:c.1121-2654_1121-2652del XM_011536553.3:c.1121-2653_1121-2652del XM_011536553.3:c.1121-2652del XM_011536553.3:c.1121-2652dup XM_011536553.3:c.1121-2653_1121-2652dup XM_011536553.3:c.1121-2654_1121-2652dup XM_011536553.3:c.1121-2655_1121-2652dup XM_011536553.3:c.1121-2661_1121-2652dup XM_011536553.3:c.1121-2665_1121-2652dup
ESRRB transcript variant X5 XM_011536554.3:c.1121-2670= XM_011536554.3:c.1121-2659_1121-2652del XM_011536554.3:c.1121-2657_1121-2652del XM_011536554.3:c.1121-2655_1121-2652del XM_011536554.3:c.1121-2654_1121-2652del XM_011536554.3:c.1121-2653_1121-2652del XM_011536554.3:c.1121-2652del XM_011536554.3:c.1121-2652dup XM_011536554.3:c.1121-2653_1121-2652dup XM_011536554.3:c.1121-2654_1121-2652dup XM_011536554.3:c.1121-2655_1121-2652dup XM_011536554.3:c.1121-2661_1121-2652dup XM_011536554.3:c.1121-2665_1121-2652dup
ESRRB transcript variant X6 XM_024449508.2:c.1121-2670= XM_024449508.2:c.1121-2659_1121-2652del XM_024449508.2:c.1121-2657_1121-2652del XM_024449508.2:c.1121-2655_1121-2652del XM_024449508.2:c.1121-2654_1121-2652del XM_024449508.2:c.1121-2653_1121-2652del XM_024449508.2:c.1121-2652del XM_024449508.2:c.1121-2652dup XM_024449508.2:c.1121-2653_1121-2652dup XM_024449508.2:c.1121-2654_1121-2652dup XM_024449508.2:c.1121-2655_1121-2652dup XM_024449508.2:c.1121-2661_1121-2652dup XM_024449508.2:c.1121-2665_1121-2652dup
ESRRB transcript variant X2 XM_047431079.1:c.1058-2670= XM_047431079.1:c.1058-2659_1058-2652del XM_047431079.1:c.1058-2657_1058-2652del XM_047431079.1:c.1058-2655_1058-2652del XM_047431079.1:c.1058-2654_1058-2652del XM_047431079.1:c.1058-2653_1058-2652del XM_047431079.1:c.1058-2652del XM_047431079.1:c.1058-2652dup XM_047431079.1:c.1058-2653_1058-2652dup XM_047431079.1:c.1058-2654_1058-2652dup XM_047431079.1:c.1058-2655_1058-2652dup XM_047431079.1:c.1058-2661_1058-2652dup XM_047431079.1:c.1058-2665_1058-2652dup
ESRRB transcript variant X7 XM_047431080.1:c.1073-2670= XM_047431080.1:c.1073-2659_1073-2652del XM_047431080.1:c.1073-2657_1073-2652del XM_047431080.1:c.1073-2655_1073-2652del XM_047431080.1:c.1073-2654_1073-2652del XM_047431080.1:c.1073-2653_1073-2652del XM_047431080.1:c.1073-2652del XM_047431080.1:c.1073-2652dup XM_047431080.1:c.1073-2653_1073-2652dup XM_047431080.1:c.1073-2654_1073-2652dup XM_047431080.1:c.1073-2655_1073-2652dup XM_047431080.1:c.1073-2661_1073-2652dup XM_047431080.1:c.1073-2665_1073-2652dup
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#.

47 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40419275 Mar 14, 2006 (126)
2 HGSV ss80460402 Dec 15, 2007 (129)
3 HUMANGENOME_JCVI ss95953594 Oct 12, 2018 (152)
4 PJP ss294839599 Oct 12, 2018 (152)
5 PJP ss294839600 Jan 10, 2018 (151)
6 BILGI_BIOE ss666632788 Apr 25, 2013 (138)
7 1000GENOMES ss1374311624 Feb 12, 2016 (147)
8 SWEGEN ss3012483435 Nov 08, 2017 (151)
9 EVA_DECODE ss3697022338 Jul 13, 2019 (153)
10 EVA_DECODE ss3697022339 Jul 13, 2019 (153)
11 EVA_DECODE ss3697022340 Jul 13, 2019 (153)
12 EVA_DECODE ss3697022341 Jul 13, 2019 (153)
13 EVA_DECODE ss3697022342 Jul 13, 2019 (153)
14 EVA_DECODE ss3697022343 Jul 13, 2019 (153)
15 PACBIO ss3792744484 Jul 13, 2019 (153)
16 PACBIO ss3797628880 Jul 13, 2019 (153)
17 KHV_HUMAN_GENOMES ss3817861609 Jul 13, 2019 (153)
18 EVA ss3834008538 Apr 27, 2020 (154)
19 GNOMAD ss4281033801 Apr 26, 2021 (155)
20 GNOMAD ss4281033802 Apr 26, 2021 (155)
21 GNOMAD ss4281033803 Apr 26, 2021 (155)
22 GNOMAD ss4281033804 Apr 26, 2021 (155)
23 GNOMAD ss4281033806 Apr 26, 2021 (155)
24 GNOMAD ss4281033807 Apr 26, 2021 (155)
25 GNOMAD ss4281033808 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5214014466 Apr 26, 2021 (155)
27 TOMMO_GENOMICS ss5214014467 Apr 26, 2021 (155)
28 TOMMO_GENOMICS ss5214014468 Apr 26, 2021 (155)
29 TOMMO_GENOMICS ss5214014469 Apr 26, 2021 (155)
30 1000G_HIGH_COVERAGE ss5296828431 Oct 16, 2022 (156)
31 1000G_HIGH_COVERAGE ss5296828432 Oct 16, 2022 (156)
32 1000G_HIGH_COVERAGE ss5296828433 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5296828434 Oct 16, 2022 (156)
34 1000G_HIGH_COVERAGE ss5296828435 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5296828436 Oct 16, 2022 (156)
36 HUGCELL_USP ss5490813741 Oct 16, 2022 (156)
37 HUGCELL_USP ss5490813742 Oct 16, 2022 (156)
38 HUGCELL_USP ss5490813743 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5767046919 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5767046920 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5767046921 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5767046922 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5767046923 Oct 16, 2022 (156)
44 EVA ss5841349027 Oct 16, 2022 (156)
45 EVA ss5841349028 Oct 16, 2022 (156)
46 EVA ss5851107341 Oct 16, 2022 (156)
47 EVA ss5902036560 Oct 16, 2022 (156)
48 1000Genomes NC_000014.8 - 76961887 Oct 12, 2018 (152)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

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

Submission ignored due to conflicting rows:
Row 456177169 (NC_000014.9:76495543::T 54889/120930)
Row 456177170 (NC_000014.9:76495543::TT 814/121056)
Row 456177171 (NC_000014.9:76495543::TTT 4/121066)...

- Apr 26, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 71983773 (NC_000014.8:76961886:T: 4569/16562)
Row 71983774 (NC_000014.8:76961886::T 7227/16562)
Row 71983775 (NC_000014.8:76961886::TT 25/16562)...

- Apr 26, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 71983773 (NC_000014.8:76961886:T: 4569/16562)
Row 71983774 (NC_000014.8:76961886::T 7227/16562)
Row 71983775 (NC_000014.8:76961886::TT 25/16562)...

- Apr 26, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 71983773 (NC_000014.8:76961886:T: 4569/16562)
Row 71983774 (NC_000014.8:76961886::T 7227/16562)
Row 71983775 (NC_000014.8:76961886::TT 25/16562)...

- Apr 26, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 71983773 (NC_000014.8:76961886:T: 4569/16562)
Row 71983774 (NC_000014.8:76961886::T 7227/16562)
Row 71983775 (NC_000014.8:76961886::TT 25/16562)...

- Apr 26, 2021 (155)
61 14KJPN

Submission ignored due to conflicting rows:
Row 100884023 (NC_000014.9:76495543::T 12655/28246)
Row 100884024 (NC_000014.9:76495543:T: 7971/28246)
Row 100884025 (NC_000014.9:76495543::TT 40/28246)...

- Oct 16, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 100884023 (NC_000014.9:76495543::T 12655/28246)
Row 100884024 (NC_000014.9:76495543:T: 7971/28246)
Row 100884025 (NC_000014.9:76495543::TT 40/28246)...

- Oct 16, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 100884023 (NC_000014.9:76495543::T 12655/28246)
Row 100884024 (NC_000014.9:76495543:T: 7971/28246)
Row 100884025 (NC_000014.9:76495543::TT 40/28246)...

- Oct 16, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 100884023 (NC_000014.9:76495543::T 12655/28246)
Row 100884024 (NC_000014.9:76495543:T: 7971/28246)
Row 100884025 (NC_000014.9:76495543::TT 40/28246)...

- Oct 16, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 100884023 (NC_000014.9:76495543::T 12655/28246)
Row 100884024 (NC_000014.9:76495543:T: 7971/28246)
Row 100884025 (NC_000014.9:76495543::TT 40/28246)...

- Oct 16, 2022 (156)
66 ALFA NC_000014.9 - 76495544 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
ss4281033808 NC_000014.9:76495543:TTTTTTTT: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss5767046923 NC_000014.9:76495543:TTTT: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4281033807 NC_000014.9:76495543:TTT: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5214014469 NC_000014.8:76961886:TT: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3697022338, ss4281033806, ss5296828436, ss5767046922, ss5902036560 NC_000014.9:76495543:TT: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss80460402 NC_000014.7:76031657:T: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
64699547, ss1374311624, ss3012483435, ss5214014466 NC_000014.8:76961886:T: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3817861609, ss5296828431, ss5490813742, ss5767046920, ss5851107341 NC_000014.9:76495543:T: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3697022339 NC_000014.9:76495544:T: NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss294839599 NC_000014.7:76031640::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss294839600 NC_000014.7:76031658::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss666632788, ss3792744484, ss3797628880, ss3834008538, ss5214014467, ss5841349027 NC_000014.8:76961886::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4281033801, ss5296828432, ss5490813741, ss5767046919 NC_000014.9:76495543::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3697022340 NC_000014.9:76495545::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss40419275 NT_026437.12:57961886::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss95953594 NT_026437.12:57961905::T NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5214014468, ss5841349028 NC_000014.8:76961886::TT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4281033802, ss5296828434, ss5490813743, ss5767046921 NC_000014.9:76495543::TT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3697022341 NC_000014.9:76495545::TT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4281033803, ss5296828433 NC_000014.9:76495543::TTT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281033804, ss5296828435 NC_000014.9:76495543::TTTT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
12450717093 NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3697022342 NC_000014.9:76495545::TTTTTTTTTT NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3697022343 NC_000014.9:76495545::TTTTTTTTTTTT…

NC_000014.9:76495545::TTTTTTTTTTTTTT

NC_000014.9:76495543:TTTTTTTTTTTTT…

NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs35281292

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