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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.

rs762078353

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:48108105 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/234262, GnomAD_exome)
A=0.000008 (1/117970, ExAC)
A=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PFKM : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 11862 C=1.00000 A=0.00000
European Sub 7618 C=1.0000 A=0.0000
African Sub 2816 C=1.0000 A=0.0000
African Others Sub 108 C=1.000 A=0.000
African American Sub 2708 C=1.0000 A=0.0000
Asian Sub 108 C=1.000 A=0.000
East Asian Sub 84 C=1.00 A=0.00
Other Asian Sub 24 C=1.00 A=0.00
Latin American 1 Sub 146 C=1.000 A=0.000
Latin American 2 Sub 610 C=1.000 A=0.000
South Asian Sub 94 C=1.00 A=0.00
Other Sub 470 C=1.000 A=0.000


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 234262 C=0.999996 A=0.000004
gnomAD - Exomes European Sub 120606 C=0.999992 A=0.000008
gnomAD - Exomes Asian Sub 48248 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 34418 C=1.00000 A=0.00000
gnomAD - Exomes African Sub 15114 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9952 C=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5924 C=1.0000 A=0.0000
ExAC Global Study-wide 117970 C=0.999992 A=0.000008
ExAC Europe Sub 71422 C=0.99999 A=0.00001
ExAC Asian Sub 24802 C=1.00000 A=0.00000
ExAC American Sub 11470 C=1.00000 A=0.00000
ExAC African Sub 9398 C=1.0000 A=0.0000
ExAC Other Sub 878 C=1.000 A=0.000
Allele Frequency Aggregator Total Global 11862 C=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 7618 C=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2816 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 470 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 A=0.00
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 12 NC_000012.12:g.48108105C>A
GRCh37.p13 chr 12 NC_000012.11:g.48501888C>A
PFKM RefSeqGene (LRG_1177) NG_016199.2:g.7853C>A
Gene: PFKM, phosphofructokinase, muscle (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PFKM transcript variant 11 NM_001354741.2:c.-81+2686…

NM_001354741.2:c.-81+2686C>A

N/A Intron Variant
PFKM transcript variant 12 NM_001354742.2:c.-9+2686C…

NM_001354742.2:c.-9+2686C>A

N/A Intron Variant
PFKM transcript variant 13 NM_001354743.2:c.-9+2295C…

NM_001354743.2:c.-9+2295C>A

N/A Intron Variant
PFKM transcript variant 17 NM_001354747.2:c.-85+2686…

NM_001354747.2:c.-85+2686C>A

N/A Intron Variant
PFKM transcript variant 4 NM_000289.6:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 2 NM_001166687.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 3 NM_001166688.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 10 NM_001354740.1:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 14 NM_001354744.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 15 NM_001354745.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 16 NM_001354746.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 18 NM_001354748.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 25 NM_001363619.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant 8 NM_001354738.1:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341667.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 9 NM_001354739.1:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341668.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 5 NM_001354735.1:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 3 NP_001341664.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 7 NM_001354737.1:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341666.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 6 NM_001354736.1:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 3 NP_001341665.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 1 NM_001166686.2:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001160158.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant 20 NR_148955.1:n.390C>A N/A Non Coding Transcript Variant
PFKM transcript variant 19 NR_148954.2:n. N/A Genic Upstream Transcript Variant
PFKM transcript variant 21 NR_148956.2:n. N/A Genic Upstream Transcript Variant
PFKM transcript variant 22 NR_148957.2:n. N/A Genic Upstream Transcript Variant
PFKM transcript variant 23 NR_148958.2:n. N/A Genic Upstream Transcript Variant
PFKM transcript variant 24 NR_148959.2:n. N/A Genic Upstream Transcript Variant
PFKM transcript variant X10 XM_024449021.2:c.91+1968C…

XM_024449021.2:c.91+1968C>A

N/A Intron Variant
PFKM transcript variant X12 XM_047429004.1:c.91+1968C…

XM_047429004.1:c.91+1968C>A

N/A Intron Variant
PFKM transcript variant X13 XM_024449022.2:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant X11 XM_047429003.1:c. N/A Genic Upstream Transcript Variant
PFKM transcript variant X1 XM_047428999.1:c.326C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X1 XP_047284955.1:p.Pro109Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X2 XM_011538487.2:c.326C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X2 XP_011536789.2:p.Pro109Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X3 XM_047429000.1:c.326C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X3 XP_047284956.1:p.Pro109Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X4 XM_047429001.1:c.125C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X4 XP_047284957.1:p.Pro42Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X5 XM_005268974.2:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X5 XP_005269031.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X6 XM_005268976.4:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X5 XP_005269033.1:p.Pro39Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X7 XM_024449020.2:c.125C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X6 XP_024304788.1:p.Pro42Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X8 XM_047429002.1:c.125C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X7 XP_047284958.1:p.Pro42Gln P (Pro) > Q (Gln) Missense Variant
PFKM transcript variant X9 XM_017019469.2:c.116C>A P [CCA] > Q [CAA] Coding Sequence Variant
ATP-dependent 6-phosphofructokinase, muscle type isoform X8 XP_016874958.1:p.Pro39Gln P (Pro) > Q (Gln) 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
GRCh38.p14 chr 12 NC_000012.12:g.48108105= NC_000012.12:g.48108105C>A
GRCh37.p13 chr 12 NC_000012.11:g.48501888= NC_000012.11:g.48501888C>A
PFKM RefSeqGene (LRG_1177) NG_016199.2:g.7853= NG_016199.2:g.7853C>A
PFKM transcript variant 1 NM_001166686.2:c.116= NM_001166686.2:c.116C>A
PFKM transcript variant 1 NM_001166686.1:c.116= NM_001166686.1:c.116C>A
PFKM transcript variant 20 NR_148955.1:n.390= NR_148955.1:n.390C>A
PFKM transcript variant 6 NM_001354736.1:c.116= NM_001354736.1:c.116C>A
PFKM transcript variant 5 NM_001354735.1:c.116= NM_001354735.1:c.116C>A
PFKM transcript variant 7 NM_001354737.1:c.116= NM_001354737.1:c.116C>A
PFKM transcript variant 9 NM_001354739.1:c.116= NM_001354739.1:c.116C>A
PFKM transcript variant 8 NM_001354738.1:c.116= NM_001354738.1:c.116C>A
PFKM transcript variant X6 XM_005268976.4:c.116= XM_005268976.4:c.116C>A
PFKM transcript variant X2 XM_005268976.3:c.116= XM_005268976.3:c.116C>A
PFKM transcript variant X4 XM_005268976.2:c.116= XM_005268976.2:c.116C>A
PFKM transcript variant X3 XM_005268976.1:c.116= XM_005268976.1:c.116C>A
PFKM transcript variant X2 XM_011538487.2:c.326= XM_011538487.2:c.326C>A
PFKM transcript variant X3 XM_011538487.1:c.116= XM_011538487.1:c.116C>A
PFKM transcript variant X5 XM_005268974.2:c.116= XM_005268974.2:c.116C>A
PFKM transcript variant X1 XM_005268974.1:c.116= XM_005268974.1:c.116C>A
PFKM transcript variant X7 XM_024449020.2:c.125= XM_024449020.2:c.125C>A
PFKM transcript variant X4 XM_024449020.1:c.125= XM_024449020.1:c.125C>A
PFKM transcript variant X9 XM_017019469.2:c.116= XM_017019469.2:c.116C>A
PFKM transcript variant X6 XM_017019469.1:c.116= XM_017019469.1:c.116C>A
PFKM transcript variant X1 XM_047428999.1:c.326= XM_047428999.1:c.326C>A
PFKM transcript variant X3 XM_047429000.1:c.326= XM_047429000.1:c.326C>A
PFKM transcript variant X4 XM_047429001.1:c.125= XM_047429001.1:c.125C>A
PFKM transcript variant X8 XM_047429002.1:c.125= XM_047429002.1:c.125C>A
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001160158.1:p.Pro39= NP_001160158.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform 3 NP_001341665.1:p.Pro39= NP_001341665.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform 3 NP_001341664.1:p.Pro39= NP_001341664.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341666.1:p.Pro39= NP_001341666.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341668.1:p.Pro39= NP_001341668.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform 1 NP_001341667.1:p.Pro39= NP_001341667.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X5 XP_005269033.1:p.Pro39= XP_005269033.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X2 XP_011536789.2:p.Pro109= XP_011536789.2:p.Pro109Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X5 XP_005269031.1:p.Pro39= XP_005269031.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X6 XP_024304788.1:p.Pro42= XP_024304788.1:p.Pro42Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X8 XP_016874958.1:p.Pro39= XP_016874958.1:p.Pro39Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X1 XP_047284955.1:p.Pro109= XP_047284955.1:p.Pro109Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X3 XP_047284956.1:p.Pro109= XP_047284956.1:p.Pro109Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X4 XP_047284957.1:p.Pro42= XP_047284957.1:p.Pro42Gln
ATP-dependent 6-phosphofructokinase, muscle type isoform X7 XP_047284958.1:p.Pro42= XP_047284958.1:p.Pro42Gln
PFKM transcript variant 11 NM_001354741.2:c.-81+2686= NM_001354741.2:c.-81+2686C>A
PFKM transcript variant 12 NM_001354742.2:c.-9+2686= NM_001354742.2:c.-9+2686C>A
PFKM transcript variant 13 NM_001354743.2:c.-9+2295= NM_001354743.2:c.-9+2295C>A
PFKM transcript variant 17 NM_001354747.2:c.-85+2686= NM_001354747.2:c.-85+2686C>A
PFKM transcript variant X10 XM_024449021.2:c.91+1968= XM_024449021.2:c.91+1968C>A
PFKM transcript variant X12 XM_047429004.1:c.91+1968= XM_047429004.1:c.91+1968C>A
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690875774 Apr 01, 2015 (144)
2 GNOMAD ss2739767056 Nov 08, 2017 (151)
3 ExAC NC_000012.11 - 48501888 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000012.11 - 48501888 Jul 13, 2019 (153)
5 ALFA NC_000012.12 - 48108105 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
1170848, 8996085, ss1690875774, ss2739767056 NC_000012.11:48501887:C:A NC_000012.12:48108104:C:A (self)
8176866043 NC_000012.12:48108104:C:A NC_000012.12:48108104:C:A (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 rs762078353

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.post761+d5e8e07