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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.

rs758669795

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:121321331-121321332 (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
delG
Variation Type
Indel Insertion and Deletion
Frequency
delG=0.000004 (1/251452, GnomAD_exome)
delG=0.000008 (1/121318, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GSN : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome
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 251452 GG=0.999996 delG=0.000004
gnomAD - Exomes European Sub 135378 GG=1.000000 delG=0.000000
gnomAD - Exomes Asian Sub 49010 GG=0.99998 delG=0.00002
gnomAD - Exomes American Sub 34590 GG=1.00000 delG=0.00000
gnomAD - Exomes African Sub 16256 GG=1.00000 delG=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 GG=1.00000 delG=0.00000
gnomAD - Exomes Other Sub 6138 GG=1.0000 delG=0.0000
ExAC Global Study-wide 121318 GG=0.999992 delG=0.000008
ExAC Europe Sub 73290 GG=1.00000 delG=0.00000
ExAC Asian Sub 25162 GG=0.99996 delG=0.00004
ExAC American Sub 11564 GG=1.00000 delG=0.00000
ExAC African Sub 10394 GG=1.00000 delG=0.00000
ExAC Other Sub 908 GG=1.000 delG=0.000
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 9 NC_000009.12:g.121321332del
GRCh37.p13 chr 9 NC_000009.11:g.124083610del
GSN RefSeqGene NG_012872.2:g.125251del
Gene: GSN, gelsolin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GSN transcript variant 12 NM_001353054.1:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339983.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 20 NM_001353062.1:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339991.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 33 NM_001353075.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340004.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 35 NM_001353077.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340006.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 11 NM_001353053.1:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339982.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 3 NM_001127662.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001121134.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 36 NM_001353078.2:c.602del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform h NP_001340007.1:p.Gly201fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 25 NM_001353067.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339996.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 4 NM_001127663.2:c.1364del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform f NP_001121135.2:p.Gly455fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 15 NM_001353057.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339986.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 28 NM_001353070.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339999.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 2 NM_198252.3:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_937895.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 1 NM_000177.5:c.1409del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform a precursor NP_000168.1:p.Gly470fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 5 NM_001127664.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001121136.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 34 NM_001353076.2:c.1328del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform g NP_001340005.1:p.Gly443fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 22 NM_001353064.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339993.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 32 NM_001353074.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340003.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 6 NM_001127665.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001121137.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 10 NM_001258030.2:c.1280del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform e NP_001244959.1:p.Gly427fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 7 NM_001127666.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001121138.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 27 NM_001353069.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339998.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 14 NM_001353056.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339985.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 17 NM_001353059.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339988.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 19 NM_001353061.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339990.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 30 NM_001353072.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340001.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 16 NM_001353058.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339987.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 24 NM_001353066.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339995.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 8 NM_001127667.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001121139.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 18 NM_001353060.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339989.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 21 NM_001353063.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339992.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 31 NM_001353073.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340002.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 13 NM_001353055.2:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform b NP_001339984.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 23 NM_001353065.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339994.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 29 NM_001353071.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001340000.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 26 NM_001353068.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform c NP_001339997.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant 9 NM_001258029.2:c.1307del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform d NP_001244958.1:p.Gly436fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X1 XM_047423265.1:c.1403del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X1 XP_047279221.1:p.Gly468fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X2 XM_011518585.2:c.1346del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X2 XP_011516887.1:p.Gly449fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X3 XM_047423266.1:c.1319del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X3 XP_047279222.1:p.Gly440fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X4 XM_017014645.2:c.1319del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X3 XP_016870134.1:p.Gly440fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X5 XM_047423267.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_047279223.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X6 XM_005251944.2:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_005252001.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X7 XM_047423268.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_047279224.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X8 XM_047423269.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_047279225.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X9 XM_047423270.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_047279226.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X10 XM_047423271.1:c.1289del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X4 XP_047279227.1:p.Gly430fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X11 XM_047423272.1:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X5 XP_047279228.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X12 XM_047423273.1:c.1256del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X5 XP_047279229.1:p.Gly419fs G (Gly) > E (Glu) Frameshift Variant
GSN transcript variant X13 XM_011518594.2:c.782del G [GGA] > E [GA] Coding Sequence Variant
gelsolin isoform X6 XP_011516896.1:p.Gly261fs G (Gly) > E (Glu) Frameshift 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 GG= delG
GRCh38.p14 chr 9 NC_000009.12:g.121321331_121321332= NC_000009.12:g.121321332del
GRCh37.p13 chr 9 NC_000009.11:g.124083609_124083610= NC_000009.11:g.124083610del
GSN RefSeqGene NG_012872.2:g.125250_125251= NG_012872.2:g.125251del
GSN transcript variant 1 NM_000177.5:c.1408_1409= NM_000177.5:c.1409del
GSN transcript variant 1 NM_000177.4:c.1408_1409= NM_000177.4:c.1409del
GSN transcript variant 2 NM_198252.3:c.1255_1256= NM_198252.3:c.1256del
GSN transcript variant 2 NM_198252.2:c.1255_1256= NM_198252.2:c.1256del
GSN transcript variant 17 NM_001353059.2:c.1255_1256= NM_001353059.2:c.1256del
GSN transcript variant 17 NM_001353059.1:c.1255_1256= NM_001353059.1:c.1256del
GSN transcript variant 24 NM_001353066.2:c.1288_1289= NM_001353066.2:c.1289del
GSN transcript variant 24 NM_001353066.1:c.1288_1289= NM_001353066.1:c.1289del
GSN transcript variant 31 NM_001353073.2:c.1288_1289= NM_001353073.2:c.1289del
GSN transcript variant 31 NM_001353073.1:c.1288_1289= NM_001353073.1:c.1289del
GSN transcript variant 29 NM_001353071.2:c.1288_1289= NM_001353071.2:c.1289del
GSN transcript variant 29 NM_001353071.1:c.1288_1289= NM_001353071.1:c.1289del
GSN transcript variant 19 NM_001353061.2:c.1255_1256= NM_001353061.2:c.1256del
GSN transcript variant 19 NM_001353061.1:c.1255_1256= NM_001353061.1:c.1256del
GSN transcript variant 16 NM_001353058.2:c.1255_1256= NM_001353058.2:c.1256del
GSN transcript variant 16 NM_001353058.1:c.1255_1256= NM_001353058.1:c.1256del
GSN transcript variant 30 NM_001353072.2:c.1288_1289= NM_001353072.2:c.1289del
GSN transcript variant 30 NM_001353072.1:c.1288_1289= NM_001353072.1:c.1289del
GSN transcript variant 27 NM_001353069.2:c.1288_1289= NM_001353069.2:c.1289del
GSN transcript variant 27 NM_001353069.1:c.1288_1289= NM_001353069.1:c.1289del
GSN transcript variant 26 NM_001353068.2:c.1288_1289= NM_001353068.2:c.1289del
GSN transcript variant 26 NM_001353068.1:c.1288_1289= NM_001353068.1:c.1289del
GSN transcript variant 32 NM_001353074.2:c.1288_1289= NM_001353074.2:c.1289del
GSN transcript variant 32 NM_001353074.1:c.1288_1289= NM_001353074.1:c.1289del
GSN transcript variant 23 NM_001353065.2:c.1288_1289= NM_001353065.2:c.1289del
GSN transcript variant 23 NM_001353065.1:c.1288_1289= NM_001353065.1:c.1289del
GSN transcript variant 22 NM_001353064.2:c.1288_1289= NM_001353064.2:c.1289del
GSN transcript variant 22 NM_001353064.1:c.1288_1289= NM_001353064.1:c.1289del
GSN transcript variant 4 NM_001127663.2:c.1363_1364= NM_001127663.2:c.1364del
GSN transcript variant 4 NM_001127663.1:c.1363_1364= NM_001127663.1:c.1364del
GSN transcript variant 34 NM_001353076.2:c.1327_1328= NM_001353076.2:c.1328del
GSN transcript variant 34 NM_001353076.1:c.1327_1328= NM_001353076.1:c.1328del
GSN transcript variant 14 NM_001353056.2:c.1255_1256= NM_001353056.2:c.1256del
GSN transcript variant 14 NM_001353056.1:c.1255_1256= NM_001353056.1:c.1256del
GSN transcript variant 5 NM_001127664.2:c.1255_1256= NM_001127664.2:c.1256del
GSN transcript variant 5 NM_001127664.1:c.1255_1256= NM_001127664.1:c.1256del
GSN transcript variant 6 NM_001127665.2:c.1255_1256= NM_001127665.2:c.1256del
GSN transcript variant 6 NM_001127665.1:c.1255_1256= NM_001127665.1:c.1256del
GSN transcript variant 7 NM_001127666.2:c.1288_1289= NM_001127666.2:c.1289del
GSN transcript variant 7 NM_001127666.1:c.1288_1289= NM_001127666.1:c.1289del
GSN transcript variant 10 NM_001258030.2:c.1279_1280= NM_001258030.2:c.1280del
GSN transcript variant 10 NM_001258030.1:c.1279_1280= NM_001258030.1:c.1280del
GSN transcript variant 8 NM_001127667.2:c.1288_1289= NM_001127667.2:c.1289del
GSN transcript variant 8 NM_001127667.1:c.1288_1289= NM_001127667.1:c.1289del
GSN transcript variant 28 NM_001353070.2:c.1288_1289= NM_001353070.2:c.1289del
GSN transcript variant 28 NM_001353070.1:c.1288_1289= NM_001353070.1:c.1289del
GSN transcript variant 18 NM_001353060.2:c.1255_1256= NM_001353060.2:c.1256del
GSN transcript variant 18 NM_001353060.1:c.1255_1256= NM_001353060.1:c.1256del
GSN transcript variant 13 NM_001353055.2:c.1255_1256= NM_001353055.2:c.1256del
GSN transcript variant 13 NM_001353055.1:c.1255_1256= NM_001353055.1:c.1256del
GSN transcript variant 15 NM_001353057.2:c.1255_1256= NM_001353057.2:c.1256del
GSN transcript variant 15 NM_001353057.1:c.1255_1256= NM_001353057.1:c.1256del
GSN transcript variant 25 NM_001353067.2:c.1288_1289= NM_001353067.2:c.1289del
GSN transcript variant 25 NM_001353067.1:c.1288_1289= NM_001353067.1:c.1289del
GSN transcript variant 21 NM_001353063.2:c.1288_1289= NM_001353063.2:c.1289del
GSN transcript variant 21 NM_001353063.1:c.1288_1289= NM_001353063.1:c.1289del
GSN transcript variant 9 NM_001258029.2:c.1306_1307= NM_001258029.2:c.1307del
GSN transcript variant 9 NM_001258029.1:c.1306_1307= NM_001258029.1:c.1307del
GSN transcript variant 3 NM_001127662.2:c.1255_1256= NM_001127662.2:c.1256del
GSN transcript variant 3 NM_001127662.1:c.1255_1256= NM_001127662.1:c.1256del
GSN transcript variant 36 NM_001353078.2:c.601_602= NM_001353078.2:c.602del
GSN transcript variant 36 NM_001353078.1:c.601_602= NM_001353078.1:c.602del
GSN transcript variant 11 NM_001353053.1:c.1255_1256= NM_001353053.1:c.1256del
GSN transcript variant 12 NM_001353054.1:c.1255_1256= NM_001353054.1:c.1256del
GSN transcript variant 20 NM_001353062.1:c.1255_1256= NM_001353062.1:c.1256del
GSN transcript variant 33 NM_001353075.1:c.1288_1289= NM_001353075.1:c.1289del
GSN transcript variant 35 NM_001353077.1:c.1288_1289= NM_001353077.1:c.1289del
GSN transcript variant X13 XM_011518594.2:c.781_782= XM_011518594.2:c.782del
GSN transcript variant X11 XM_011518594.1:c.781_782= XM_011518594.1:c.782del
GSN transcript variant X4 XM_017014645.2:c.1318_1319= XM_017014645.2:c.1319del
GSN transcript variant X4 XM_017014645.1:c.1318_1319= XM_017014645.1:c.1319del
GSN transcript variant X2 XM_011518585.2:c.1345_1346= XM_011518585.2:c.1346del
GSN transcript variant X3 XM_011518585.1:c.1345_1346= XM_011518585.1:c.1346del
GSN transcript variant X6 XM_005251944.2:c.1288_1289= XM_005251944.2:c.1289del
GSN transcript variant X6 XM_005251944.1:c.1288_1289= XM_005251944.1:c.1289del
GSN transcript variant X8 XM_047423269.1:c.1288_1289= XM_047423269.1:c.1289del
GSN transcript variant X12 XM_047423273.1:c.1255_1256= XM_047423273.1:c.1256del
GSN transcript variant X5 XM_047423267.1:c.1288_1289= XM_047423267.1:c.1289del
GSN transcript variant X7 XM_047423268.1:c.1288_1289= XM_047423268.1:c.1289del
GSN transcript variant X11 XM_047423272.1:c.1255_1256= XM_047423272.1:c.1256del
GSN transcript variant X1 XM_047423265.1:c.1402_1403= XM_047423265.1:c.1403del
GSN transcript variant X9 XM_047423270.1:c.1288_1289= XM_047423270.1:c.1289del
GSN transcript variant X3 XM_047423266.1:c.1318_1319= XM_047423266.1:c.1319del
GSN transcript variant X10 XM_047423271.1:c.1288_1289= XM_047423271.1:c.1289del
gelsolin isoform a precursor NP_000168.1:p.Gly470= NP_000168.1:p.Gly470fs
gelsolin isoform b NP_937895.1:p.Gly419= NP_937895.1:p.Gly419fs
gelsolin isoform b NP_001339988.1:p.Gly419= NP_001339988.1:p.Gly419fs
gelsolin isoform c NP_001339995.1:p.Gly430= NP_001339995.1:p.Gly430fs
gelsolin isoform c NP_001340002.1:p.Gly430= NP_001340002.1:p.Gly430fs
gelsolin isoform c NP_001340000.1:p.Gly430= NP_001340000.1:p.Gly430fs
gelsolin isoform b NP_001339990.1:p.Gly419= NP_001339990.1:p.Gly419fs
gelsolin isoform b NP_001339987.1:p.Gly419= NP_001339987.1:p.Gly419fs
gelsolin isoform c NP_001340001.1:p.Gly430= NP_001340001.1:p.Gly430fs
gelsolin isoform c NP_001339998.1:p.Gly430= NP_001339998.1:p.Gly430fs
gelsolin isoform c NP_001339997.1:p.Gly430= NP_001339997.1:p.Gly430fs
gelsolin isoform c NP_001340003.1:p.Gly430= NP_001340003.1:p.Gly430fs
gelsolin isoform c NP_001339994.1:p.Gly430= NP_001339994.1:p.Gly430fs
gelsolin isoform c NP_001339993.1:p.Gly430= NP_001339993.1:p.Gly430fs
gelsolin isoform f NP_001121135.2:p.Gly455= NP_001121135.2:p.Gly455fs
gelsolin isoform g NP_001340005.1:p.Gly443= NP_001340005.1:p.Gly443fs
gelsolin isoform b NP_001339985.1:p.Gly419= NP_001339985.1:p.Gly419fs
gelsolin isoform b NP_001121136.1:p.Gly419= NP_001121136.1:p.Gly419fs
gelsolin isoform b NP_001121137.1:p.Gly419= NP_001121137.1:p.Gly419fs
gelsolin isoform c NP_001121138.1:p.Gly430= NP_001121138.1:p.Gly430fs
gelsolin isoform e NP_001244959.1:p.Gly427= NP_001244959.1:p.Gly427fs
gelsolin isoform c NP_001121139.1:p.Gly430= NP_001121139.1:p.Gly430fs
gelsolin isoform c NP_001339999.1:p.Gly430= NP_001339999.1:p.Gly430fs
gelsolin isoform b NP_001339989.1:p.Gly419= NP_001339989.1:p.Gly419fs
gelsolin isoform b NP_001339984.1:p.Gly419= NP_001339984.1:p.Gly419fs
gelsolin isoform b NP_001339986.1:p.Gly419= NP_001339986.1:p.Gly419fs
gelsolin isoform c NP_001339996.1:p.Gly430= NP_001339996.1:p.Gly430fs
gelsolin isoform c NP_001339992.1:p.Gly430= NP_001339992.1:p.Gly430fs
gelsolin isoform d NP_001244958.1:p.Gly436= NP_001244958.1:p.Gly436fs
gelsolin isoform b NP_001121134.1:p.Gly419= NP_001121134.1:p.Gly419fs
gelsolin isoform h NP_001340007.1:p.Gly201= NP_001340007.1:p.Gly201fs
gelsolin isoform b NP_001339982.1:p.Gly419= NP_001339982.1:p.Gly419fs
gelsolin isoform b NP_001339983.1:p.Gly419= NP_001339983.1:p.Gly419fs
gelsolin isoform b NP_001339991.1:p.Gly419= NP_001339991.1:p.Gly419fs
gelsolin isoform c NP_001340004.1:p.Gly430= NP_001340004.1:p.Gly430fs
gelsolin isoform c NP_001340006.1:p.Gly430= NP_001340006.1:p.Gly430fs
gelsolin isoform X6 XP_011516896.1:p.Gly261= XP_011516896.1:p.Gly261fs
gelsolin isoform X3 XP_016870134.1:p.Gly440= XP_016870134.1:p.Gly440fs
gelsolin isoform X2 XP_011516887.1:p.Gly449= XP_011516887.1:p.Gly449fs
gelsolin isoform X4 XP_005252001.1:p.Gly430= XP_005252001.1:p.Gly430fs
gelsolin isoform X4 XP_047279225.1:p.Gly430= XP_047279225.1:p.Gly430fs
gelsolin isoform X5 XP_047279229.1:p.Gly419= XP_047279229.1:p.Gly419fs
gelsolin isoform X4 XP_047279223.1:p.Gly430= XP_047279223.1:p.Gly430fs
gelsolin isoform X4 XP_047279224.1:p.Gly430= XP_047279224.1:p.Gly430fs
gelsolin isoform X5 XP_047279228.1:p.Gly419= XP_047279228.1:p.Gly419fs
gelsolin isoform X1 XP_047279221.1:p.Gly468= XP_047279221.1:p.Gly468fs
gelsolin isoform X4 XP_047279226.1:p.Gly430= XP_047279226.1:p.Gly430fs
gelsolin isoform X3 XP_047279222.1:p.Gly440= XP_047279222.1:p.Gly440fs
gelsolin isoform X4 XP_047279227.1:p.Gly430= XP_047279227.1:p.Gly430fs
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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 EVA_EXAC ss1711919656 Apr 01, 2015 (144)
2 GNOMAD ss2737843052 Nov 08, 2017 (151)
3 ExAC NC_000009.11 - 124083609 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000009.11 - 124083609 Jul 13, 2019 (153)
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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
9774545, 7030893, ss1711919656, ss2737843052 NC_000009.11:124083608:G: NC_000009.12:121321330:GG: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 rs758669795

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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.post761+d5e8e07