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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.

rs748938789

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:95107220 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/251056, GnomAD_exome)
T=0.000008 (1/119516, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FANCC : Missense Variant
AOPEP : Intron Variant
LOC107987102 : Non Coding Transcript 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 251056 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 135060 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48998 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34564 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16228 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6126 C=1.0000 T=0.0000
ExAC Global Study-wide 119516 C=0.999992 T=0.000008
ExAC Europe Sub 72146 C=1.00000 T=0.00000
ExAC Asian Sub 24838 C=0.99996 T=0.00004
ExAC American Sub 11418 C=1.00000 T=0.00000
ExAC African Sub 10246 C=1.00000 T=0.00000
ExAC Other Sub 868 C=1.000 T=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.95107220C>G
GRCh38.p14 chr 9 NC_000009.12:g.95107220C>T
GRCh37.p13 chr 9 NC_000009.11:g.97869502C>G
GRCh37.p13 chr 9 NC_000009.11:g.97869502C>T
FANCC RefSeqGene (LRG_497) NG_011707.1:g.215490G>C
FANCC RefSeqGene (LRG_497) NG_011707.1:g.215490G>A
Gene: AOPEP, aminopeptidase O (putative) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AOPEP transcript variant 1 NM_001193329.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 4 NM_001193331.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 5 NM_001386061.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 6 NM_001386062.2:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 7 NM_001386063.2:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 8 NM_001386066.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 9 NM_001386067.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 10 NM_001386068.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 11 NM_001386069.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 12 NM_001386070.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 13 NM_001386071.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 14 NM_001386072.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 15 NM_001386073.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 16 NM_001386074.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 17 NM_001386075.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 18 NM_001386076.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 2 NM_032823.6:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 19 NR_169862.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 20 NR_169863.2:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 24 NR_169864.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 21 NR_169865.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 22 NR_169866.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant 23 NR_169867.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X2 XM_011519121.4:c.2319+264…

XM_011519121.4:c.2319+26440C>G

 		N/A Intron Variant
AOPEP transcript variant X14 XM_011519122.4:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X17 XM_011519123.4:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X18 XM_011519127.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X29 XM_011519130.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X30 XM_011519132.2:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X26 XM_011519134.4:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X13 XM_017015231.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X15 XM_017015232.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X21 XM_017015234.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X25 XM_017015236.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X27 XM_017015237.3:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X1 XM_047423978.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X5 XM_047423979.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X6 XM_047423980.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X7 XM_047423981.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X9 XM_047423982.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X10 XM_047423983.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X12 XM_047423984.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X19 XM_047423985.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X22 XM_047423986.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X24 XM_047423987.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X28 XM_047423988.1:c. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X8 XR_007061363.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X11 XR_007061364.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X23 XR_007061365.1:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X3 XR_929853.3:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X4 XR_929854.3:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X16 XR_929855.3:n. N/A Genic Downstream Transcript Variant
AOPEP transcript variant X20 XR_929857.3:n. N/A Genic Downstream Transcript Variant
Gene: FANCC, FA complementation group C (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FANCC transcript variant 3 NM_001243744.2:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant 1 NM_000136.3:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform a NP_000127.2:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant 1 NM_000136.3:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform a NP_000127.2:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant 2 NM_001243743.2:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform a NP_001230672.1:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant 2 NM_001243743.2:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform a NP_001230672.1:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X11 XM_006717002.5:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X15 XM_006717004.4:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X12 XM_011518366.4:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X9 XM_047422953.1:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X10 XM_047422954.1:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X13 XM_047422955.1:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X14 XM_047422956.1:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X16 XM_047422959.1:c. N/A Genic Downstream Transcript Variant
FANCC transcript variant X3 XM_024447451.2:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_024303219.1:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X3 XM_024447451.2:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_024303219.1:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X1 XM_011518365.4:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_011516667.1:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X1 XM_011518365.4:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_011516667.1:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X2 XM_047422948.1:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_047278904.1:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X2 XM_047422948.1:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_047278904.1:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X4 XM_047422949.1:c.1379G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_047278905.1:p.Ser460Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X4 XM_047422949.1:c.1379G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X1 XP_047278905.1:p.Ser460Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X5 XM_006717001.4:c.1214G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_006717064.1:p.Ser405Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X5 XM_006717001.4:c.1214G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_006717064.1:p.Ser405Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X6 XM_047422950.1:c.1214G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278906.1:p.Ser405Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X6 XM_047422950.1:c.1214G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278906.1:p.Ser405Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X7 XM_047422951.1:c.1214G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278907.1:p.Ser405Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X7 XM_047422951.1:c.1214G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278907.1:p.Ser405Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X8 XM_047422952.1:c.1214G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278908.1:p.Ser405Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X8 XM_047422952.1:c.1214G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X2 XP_047278908.1:p.Ser405Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X18 XM_047422957.1:c.923G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X7 XP_047278913.1:p.Ser308Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X18 XM_047422957.1:c.923G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X7 XP_047278913.1:p.Ser308Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X19 XM_047422958.1:c.923G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X7 XP_047278914.1:p.Ser308Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X19 XM_047422958.1:c.923G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X7 XP_047278914.1:p.Ser308Asn S (Ser) > N (Asn) Missense Variant
FANCC transcript variant X17 XM_005251802.4:c.698G>C S [AGC] > T [ACC] Coding Sequence Variant
Fanconi anemia group C protein isoform X9 XP_005251859.1:p.Ser233Thr S (Ser) > T (Thr) Missense Variant
FANCC transcript variant X17 XM_005251802.4:c.698G>A S [AGC] > N [AAC] Coding Sequence Variant
Fanconi anemia group C protein isoform X9 XP_005251859.1:p.Ser233Asn S (Ser) > N (Asn) Missense Variant
Gene: LOC107987102, uncharacterized LOC107987102 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107987102 transcript XR_001746847.2:n.638C>G N/A Non Coding Transcript Variant
LOC107987102 transcript XR_001746847.2:n.638C>T 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.

Allele: T (allele ID: 1414412 )
ClinVar Accession Disease Names Clinical Significance
RCV001870606.3 Fanconi anemia Uncertain-Significance
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= G T
GRCh38.p14 chr 9 NC_000009.12:g.95107220= NC_000009.12:g.95107220C>G NC_000009.12:g.95107220C>T
GRCh37.p13 chr 9 NC_000009.11:g.97869502= NC_000009.11:g.97869502C>G NC_000009.11:g.97869502C>T
FANCC RefSeqGene (LRG_497) NG_011707.1:g.215490= NG_011707.1:g.215490G>C NG_011707.1:g.215490G>A
FANCC transcript variant 1 NM_000136.3:c.1379= NM_000136.3:c.1379G>C NM_000136.3:c.1379G>A
FANCC transcript variant 1 NM_000136.2:c.1379= NM_000136.2:c.1379G>C NM_000136.2:c.1379G>A
FANCC transcript variant 2 NM_001243743.2:c.1379= NM_001243743.2:c.1379G>C NM_001243743.2:c.1379G>A
FANCC transcript variant 2 NM_001243743.1:c.1379= NM_001243743.1:c.1379G>C NM_001243743.1:c.1379G>A
FANCC transcript variant X1 XM_011518365.4:c.1379= XM_011518365.4:c.1379G>C XM_011518365.4:c.1379G>A
FANCC transcript variant X2 XM_011518365.3:c.1379= XM_011518365.3:c.1379G>C XM_011518365.3:c.1379G>A
FANCC transcript variant X1 XM_011518365.2:c.1379= XM_011518365.2:c.1379G>C XM_011518365.2:c.1379G>A
FANCC transcript variant X1 XM_011518365.1:c.1379= XM_011518365.1:c.1379G>C XM_011518365.1:c.1379G>A
FANCC transcript variant X5 XM_006717001.4:c.1214= XM_006717001.4:c.1214G>C XM_006717001.4:c.1214G>A
FANCC transcript variant X3 XM_006717001.3:c.1214= XM_006717001.3:c.1214G>C XM_006717001.3:c.1214G>A
FANCC transcript variant X2 XM_006717001.2:c.1214= XM_006717001.2:c.1214G>C XM_006717001.2:c.1214G>A
FANCC transcript variant X2 XM_006717001.1:c.1214= XM_006717001.1:c.1214G>C XM_006717001.1:c.1214G>A
FANCC transcript variant X17 XM_005251802.4:c.698= XM_005251802.4:c.698G>C XM_005251802.4:c.698G>A
FANCC transcript variant X11 XM_005251802.3:c.698= XM_005251802.3:c.698G>C XM_005251802.3:c.698G>A
FANCC transcript variant X7 XM_005251802.2:c.698= XM_005251802.2:c.698G>C XM_005251802.2:c.698G>A
FANCC transcript variant X1 XM_005251802.1:c.698= XM_005251802.1:c.698G>C XM_005251802.1:c.698G>A
FANCC transcript variant X3 XM_024447451.2:c.1379= XM_024447451.2:c.1379G>C XM_024447451.2:c.1379G>A
FANCC transcript variant X1 XM_024447451.1:c.1379= XM_024447451.1:c.1379G>C XM_024447451.1:c.1379G>A
LOC107987102 transcript XR_001746847.2:n.638= XR_001746847.2:n.638C>G XR_001746847.2:n.638C>T
LOC107987102 transcript XR_001746847.1:n.638= XR_001746847.1:n.638C>G XR_001746847.1:n.638C>T
FANCC transcript variant X18 XM_047422957.1:c.923= XM_047422957.1:c.923G>C XM_047422957.1:c.923G>A
FANCC transcript variant X4 XM_047422949.1:c.1379= XM_047422949.1:c.1379G>C XM_047422949.1:c.1379G>A
FANCC transcript variant X2 XM_047422948.1:c.1379= XM_047422948.1:c.1379G>C XM_047422948.1:c.1379G>A
FANCC transcript variant X8 XM_047422952.1:c.1214= XM_047422952.1:c.1214G>C XM_047422952.1:c.1214G>A
FANCC transcript variant X7 XM_047422951.1:c.1214= XM_047422951.1:c.1214G>C XM_047422951.1:c.1214G>A
FANCC transcript variant X6 XM_047422950.1:c.1214= XM_047422950.1:c.1214G>C XM_047422950.1:c.1214G>A
FANCC transcript variant X19 XM_047422958.1:c.923= XM_047422958.1:c.923G>C XM_047422958.1:c.923G>A
Fanconi anemia group C protein isoform a NP_000127.2:p.Ser460= NP_000127.2:p.Ser460Thr NP_000127.2:p.Ser460Asn
Fanconi anemia group C protein isoform a NP_001230672.1:p.Ser460= NP_001230672.1:p.Ser460Thr NP_001230672.1:p.Ser460Asn
Fanconi anemia group C protein isoform X1 XP_011516667.1:p.Ser460= XP_011516667.1:p.Ser460Thr XP_011516667.1:p.Ser460Asn
Fanconi anemia group C protein isoform X2 XP_006717064.1:p.Ser405= XP_006717064.1:p.Ser405Thr XP_006717064.1:p.Ser405Asn
Fanconi anemia group C protein isoform X9 XP_005251859.1:p.Ser233= XP_005251859.1:p.Ser233Thr XP_005251859.1:p.Ser233Asn
Fanconi anemia group C protein isoform X1 XP_024303219.1:p.Ser460= XP_024303219.1:p.Ser460Thr XP_024303219.1:p.Ser460Asn
Fanconi anemia group C protein isoform X7 XP_047278913.1:p.Ser308= XP_047278913.1:p.Ser308Thr XP_047278913.1:p.Ser308Asn
Fanconi anemia group C protein isoform X1 XP_047278905.1:p.Ser460= XP_047278905.1:p.Ser460Thr XP_047278905.1:p.Ser460Asn
Fanconi anemia group C protein isoform X1 XP_047278904.1:p.Ser460= XP_047278904.1:p.Ser460Thr XP_047278904.1:p.Ser460Asn
Fanconi anemia group C protein isoform X2 XP_047278908.1:p.Ser405= XP_047278908.1:p.Ser405Thr XP_047278908.1:p.Ser405Asn
Fanconi anemia group C protein isoform X2 XP_047278907.1:p.Ser405= XP_047278907.1:p.Ser405Thr XP_047278907.1:p.Ser405Asn
Fanconi anemia group C protein isoform X2 XP_047278906.1:p.Ser405= XP_047278906.1:p.Ser405Thr XP_047278906.1:p.Ser405Asn
Fanconi anemia group C protein isoform X7 XP_047278914.1:p.Ser308= XP_047278914.1:p.Ser308Thr XP_047278914.1:p.Ser308Asn
AOPEP transcript variant X2 XM_011519121.4:c.2319+26440= XM_011519121.4:c.2319+26440C>G XM_011519121.4:c.2319+26440C>T
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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#.

3 SubSNP, 2 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689560700 Apr 01, 2015 (144)
2 GNOMAD ss2737723310 Nov 08, 2017 (151)
3 EVA ss5935989695 Oct 16, 2022 (156)
4 ExAC NC_000009.11 - 97869502 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000009.11 - 97869502 Jul 13, 2019 (153)
6 ClinVar RCV001870606.3 Oct 16, 2022 (156)
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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
ss5935989695 NC_000009.11:97869501:C:G NC_000009.12:95107219:C:G
9689782, 6907438, ss1689560700, ss2737723310 NC_000009.11:97869501:C:T NC_000009.12:95107219:C:T (self)
RCV001870606.3 NC_000009.12:95107219:C:T NC_000009.12:95107219:C:T
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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 rs748938789

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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