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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.

rs1450304341

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:1934358 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/140294, GnomAD)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TNNT3 : Synonymous 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 27042 G=0.99996 A=0.00000, T=0.00004 0.999926 0.0 7.4e-05 0
European Sub 17052 G=0.99994 A=0.00000, T=0.00006 0.999883 0.0 0.000117 0
African Sub 7132 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 268 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 6864 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 1900 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A


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 - Genomes Global Study-wide 140294 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75956 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 42058 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13670 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=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 11 NC_000011.10:g.1934358G>A
GRCh37.p13 chr 11 NC_000011.9:g.1955588G>A
GRCh38.p14 chr 11 fix patch HG28_PATCH NW_021160004.1:g.103186G>A
Gene: TNNT3, troponin T3, fast skeletal type (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TNNT3 transcript variant 1 NM_006757.4:c.393G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 1 NP_006748.1:p.Glu131= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 7 NM_001367842.1:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 2 NP_001354771.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 16 NM_001367851.1:c.189G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 12 NP_001354780.1:p.Glu63= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 12 NM_001367847.1:c.402G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 5 NP_001354776.1:p.Glu134= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 9 NM_001367844.1:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 4 NP_001354773.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 8 NM_001367843.1:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 6 NP_001354772.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 15 NM_001367850.1:c.336G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 11 NP_001354779.1:p.Glu112= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 17 NM_001367852.1:c.189G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 12 NP_001354781.1:p.Glu63= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 10 NM_001367845.1:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 7 NP_001354774.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 13 NM_001367848.1:c.390G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 9 NP_001354777.1:p.Glu130= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 14 NM_001367849.1:c.381G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 10 NP_001354778.1:p.Glu127= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 11 NM_001367846.1:c.426G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 8 NP_001354775.1:p.Glu142= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 2 NM_001042781.3:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 2 NP_001036246.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 6 NM_001363561.2:c.402G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 5 NP_001350490.1:p.Glu134= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 5 NM_001297646.2:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 4 NP_001284575.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 3 NM_001042780.3:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 3 NP_001036245.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant 4 NM_001042782.3:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform 4 NP_001036247.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X1 XM_006718294.4:c.402G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X1 XP_006718357.1:p.Glu134= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X2 XM_017018205.2:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X2 XP_016873694.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X3 XM_017018206.2:c.426G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X3 XP_016873695.1:p.Glu142= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X4 XM_017018207.2:c.414G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X4 XP_016873696.1:p.Glu138= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X5 XM_017018208.2:c.405G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X5 XP_016873697.1:p.Glu135= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X6 XM_017018209.2:c.390G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X6 XP_016873698.1:p.Glu130= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X7 XM_024448669.2:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X7 XP_024304437.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X8 XM_017018210.2:c.381G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X8 XP_016873699.1:p.Glu127= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X9 XM_017018211.2:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X9 XP_016873700.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X10 XM_017018212.2:c.372G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X10 XP_016873701.1:p.Glu124= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X11 XM_024448670.2:c.369G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X11 XP_024304438.1:p.Glu123= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X12 XM_024448671.2:c.366G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X12 XP_024304439.1:p.Glu122= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X13 XM_017018213.2:c.357G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X13 XP_016873702.1:p.Glu119= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X14 XM_017018214.2:c.354G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X14 XP_016873703.1:p.Glu118= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X15 XM_017018215.2:c.348G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X15 XP_016873704.1:p.Glu116= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X16 XM_024448672.2:c.348G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X16 XP_024304440.1:p.Glu116= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X17 XM_011520343.3:c.426G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X3 XP_011518645.1:p.Glu142= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X18 XM_017018216.2:c.408G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X17 XP_016873705.1:p.Glu136= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X19 XM_017018217.2:c.387G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X18 XP_016873706.1:p.Glu129= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X20 XM_017018218.2:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X19 XP_016873707.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X21 XM_006718299.3:c.366G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X20 XP_006718362.1:p.Glu122= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X22 XM_006718300.4:c.354G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X21 XP_006718363.1:p.Glu118= E (Glu) > E (Glu) Synonymous Variant
TNNT3 transcript variant X23 XM_017018219.2:c.336G>A E [GAG] > E [GAA] Coding Sequence Variant
troponin T, fast skeletal muscle isoform X22 XP_016873708.1:p.Glu112= E (Glu) > E (Glu) Synonymous 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 G= A
GRCh38.p14 chr 11 NC_000011.10:g.1934358= NC_000011.10:g.1934358G>A
GRCh37.p13 chr 11 NC_000011.9:g.1955588= NC_000011.9:g.1955588G>A
GRCh38.p14 chr 11 fix patch HG28_PATCH NW_021160004.1:g.103186= NW_021160004.1:g.103186G>A
TNNT3 transcript variant X1 XM_006718294.4:c.402= XM_006718294.4:c.402G>A
TNNT3 transcript variant X2 XM_006718294.3:c.402= XM_006718294.3:c.402G>A
TNNT3 transcript variant X6 XM_006718294.2:c.402= XM_006718294.2:c.402G>A
TNNT3 transcript variant X7 XM_006718294.1:c.402= XM_006718294.1:c.402G>A
TNNT3 transcript variant 1 NM_006757.4:c.393= NM_006757.4:c.393G>A
TNNT3 transcript variant 1 NM_006757.3:c.393= NM_006757.3:c.393G>A
TNNT3 transcript variant X22 XM_006718300.4:c.354= XM_006718300.4:c.354G>A
TNNT3 transcript variant X26 XM_006718300.3:c.354= XM_006718300.3:c.354G>A
TNNT3 transcript variant X12 XM_006718300.2:c.354= XM_006718300.2:c.354G>A
TNNT3 transcript variant X13 XM_006718300.1:c.354= XM_006718300.1:c.354G>A
TNNT3 transcript variant X17 XM_011520343.3:c.426= XM_011520343.3:c.426G>A
TNNT3 transcript variant X20 XM_011520343.2:c.426= XM_011520343.2:c.426G>A
TNNT3 transcript variant X16 XM_011520343.1:c.426= XM_011520343.1:c.426G>A
TNNT3 transcript variant 2 NM_001042781.3:c.387= NM_001042781.3:c.387G>A
TNNT3 transcript variant 2 NM_001042781.2:c.387= NM_001042781.2:c.387G>A
TNNT3 transcript variant 4 NM_001042782.3:c.369= NM_001042782.3:c.369G>A
TNNT3 transcript variant 4 NM_001042782.2:c.369= NM_001042782.2:c.369G>A
TNNT3 transcript variant 3 NM_001042780.3:c.369= NM_001042780.3:c.369G>A
TNNT3 transcript variant 3 NM_001042780.2:c.369= NM_001042780.2:c.369G>A
TNNT3 transcript variant X21 XM_006718299.3:c.366= XM_006718299.3:c.366G>A
TNNT3 transcript variant X25 XM_006718299.2:c.366= XM_006718299.2:c.366G>A
TNNT3 transcript variant X11 XM_006718299.1:c.366= XM_006718299.1:c.366G>A
TNNT3 transcript variant 5 NM_001297646.2:c.369= NM_001297646.2:c.369G>A
TNNT3 transcript variant 5 NM_001297646.1:c.369= NM_001297646.1:c.369G>A
TNNT3 transcript variant X18 XM_017018216.2:c.408= XM_017018216.2:c.408G>A
TNNT3 transcript variant X21 XM_017018216.1:c.408= XM_017018216.1:c.408G>A
TNNT3 transcript variant 6 NM_001363561.2:c.402= NM_001363561.2:c.402G>A
TNNT3 transcript variant 6 NM_001363561.1:c.402= NM_001363561.1:c.402G>A
TNNT3 transcript variant X3 XM_017018206.2:c.426= XM_017018206.2:c.426G>A
TNNT3 transcript variant X4 XM_017018206.1:c.426= XM_017018206.1:c.426G>A
TNNT3 transcript variant X19 XM_017018217.2:c.387= XM_017018217.2:c.387G>A
TNNT3 transcript variant X23 XM_017018217.1:c.387= XM_017018217.1:c.387G>A
TNNT3 transcript variant X2 XM_017018205.2:c.387= XM_017018205.2:c.387G>A
TNNT3 transcript variant X3 XM_017018205.1:c.387= XM_017018205.1:c.387G>A
TNNT3 transcript variant X4 XM_017018207.2:c.414= XM_017018207.2:c.414G>A
TNNT3 transcript variant X5 XM_017018207.1:c.414= XM_017018207.1:c.414G>A
TNNT3 transcript variant X20 XM_017018218.2:c.375= XM_017018218.2:c.375G>A
TNNT3 transcript variant X24 XM_017018218.1:c.375= XM_017018218.1:c.375G>A
TNNT3 transcript variant X6 XM_017018209.2:c.390= XM_017018209.2:c.390G>A
TNNT3 transcript variant X7 XM_017018209.1:c.390= XM_017018209.1:c.390G>A
TNNT3 transcript variant X7 XM_024448669.2:c.387= XM_024448669.2:c.387G>A
TNNT3 transcript variant X8 XM_024448669.1:c.387= XM_024448669.1:c.387G>A
TNNT3 transcript variant X5 XM_017018208.2:c.405= XM_017018208.2:c.405G>A
TNNT3 transcript variant X6 XM_017018208.1:c.405= XM_017018208.1:c.405G>A
TNNT3 transcript variant X23 XM_017018219.2:c.336= XM_017018219.2:c.336G>A
TNNT3 transcript variant X28 XM_017018219.1:c.336= XM_017018219.1:c.336G>A
TNNT3 transcript variant X9 XM_017018211.2:c.375= XM_017018211.2:c.375G>A
TNNT3 transcript variant X10 XM_017018211.1:c.375= XM_017018211.1:c.375G>A
TNNT3 transcript variant X8 XM_017018210.2:c.381= XM_017018210.2:c.381G>A
TNNT3 transcript variant X9 XM_017018210.1:c.381= XM_017018210.1:c.381G>A
TNNT3 transcript variant X10 XM_017018212.2:c.372= XM_017018212.2:c.372G>A
TNNT3 transcript variant X11 XM_017018212.1:c.372= XM_017018212.1:c.372G>A
TNNT3 transcript variant X11 XM_024448670.2:c.369= XM_024448670.2:c.369G>A
TNNT3 transcript variant X12 XM_024448670.1:c.369= XM_024448670.1:c.369G>A
TNNT3 transcript variant X12 XM_024448671.2:c.366= XM_024448671.2:c.366G>A
TNNT3 transcript variant X13 XM_024448671.1:c.366= XM_024448671.1:c.366G>A
TNNT3 transcript variant X13 XM_017018213.2:c.357= XM_017018213.2:c.357G>A
TNNT3 transcript variant X14 XM_017018213.1:c.357= XM_017018213.1:c.357G>A
TNNT3 transcript variant X14 XM_017018214.2:c.354= XM_017018214.2:c.354G>A
TNNT3 transcript variant X15 XM_017018214.1:c.354= XM_017018214.1:c.354G>A
TNNT3 transcript variant X16 XM_024448672.2:c.348= XM_024448672.2:c.348G>A
TNNT3 transcript variant X17 XM_024448672.1:c.348= XM_024448672.1:c.348G>A
TNNT3 transcript variant X15 XM_017018215.2:c.348= XM_017018215.2:c.348G>A
TNNT3 transcript variant X16 XM_017018215.1:c.348= XM_017018215.1:c.348G>A
TNNT3 transcript variant 11 NM_001367846.1:c.426= NM_001367846.1:c.426G>A
TNNT3 transcript variant 13 NM_001367848.1:c.390= NM_001367848.1:c.390G>A
TNNT3 transcript variant 8 NM_001367843.1:c.387= NM_001367843.1:c.387G>A
TNNT3 transcript variant 10 NM_001367845.1:c.369= NM_001367845.1:c.369G>A
TNNT3 transcript variant 12 NM_001367847.1:c.402= NM_001367847.1:c.402G>A
TNNT3 transcript variant 7 NM_001367842.1:c.387= NM_001367842.1:c.387G>A
TNNT3 transcript variant 15 NM_001367850.1:c.336= NM_001367850.1:c.336G>A
TNNT3 transcript variant 9 NM_001367844.1:c.369= NM_001367844.1:c.369G>A
TNNT3 transcript variant 16 NM_001367851.1:c.189= NM_001367851.1:c.189G>A
TNNT3 transcript variant 17 NM_001367852.1:c.189= NM_001367852.1:c.189G>A
TNNT3 transcript variant 14 NM_001367849.1:c.381= NM_001367849.1:c.381G>A
troponin T, fast skeletal muscle isoform X1 XP_006718357.1:p.Glu134= XP_006718357.1:p.Glu134=
troponin T, fast skeletal muscle isoform 1 NP_006748.1:p.Glu131= NP_006748.1:p.Glu131=
troponin T, fast skeletal muscle isoform X21 XP_006718363.1:p.Glu118= XP_006718363.1:p.Glu118=
troponin T, fast skeletal muscle isoform X3 XP_011518645.1:p.Glu142= XP_011518645.1:p.Glu142=
troponin T, fast skeletal muscle isoform 2 NP_001036246.1:p.Glu129= NP_001036246.1:p.Glu129=
troponin T, fast skeletal muscle isoform 4 NP_001036247.1:p.Glu123= NP_001036247.1:p.Glu123=
troponin T, fast skeletal muscle isoform 3 NP_001036245.1:p.Glu123= NP_001036245.1:p.Glu123=
troponin T, fast skeletal muscle isoform X20 XP_006718362.1:p.Glu122= XP_006718362.1:p.Glu122=
troponin T, fast skeletal muscle isoform 4 NP_001284575.1:p.Glu123= NP_001284575.1:p.Glu123=
troponin T, fast skeletal muscle isoform X17 XP_016873705.1:p.Glu136= XP_016873705.1:p.Glu136=
troponin T, fast skeletal muscle isoform 5 NP_001350490.1:p.Glu134= NP_001350490.1:p.Glu134=
troponin T, fast skeletal muscle isoform X3 XP_016873695.1:p.Glu142= XP_016873695.1:p.Glu142=
troponin T, fast skeletal muscle isoform X18 XP_016873706.1:p.Glu129= XP_016873706.1:p.Glu129=
troponin T, fast skeletal muscle isoform X2 XP_016873694.1:p.Glu129= XP_016873694.1:p.Glu129=
troponin T, fast skeletal muscle isoform X4 XP_016873696.1:p.Glu138= XP_016873696.1:p.Glu138=
troponin T, fast skeletal muscle isoform X19 XP_016873707.1:p.Glu125= XP_016873707.1:p.Glu125=
troponin T, fast skeletal muscle isoform X6 XP_016873698.1:p.Glu130= XP_016873698.1:p.Glu130=
troponin T, fast skeletal muscle isoform X7 XP_024304437.1:p.Glu129= XP_024304437.1:p.Glu129=
troponin T, fast skeletal muscle isoform X5 XP_016873697.1:p.Glu135= XP_016873697.1:p.Glu135=
troponin T, fast skeletal muscle isoform X22 XP_016873708.1:p.Glu112= XP_016873708.1:p.Glu112=
troponin T, fast skeletal muscle isoform X9 XP_016873700.1:p.Glu125= XP_016873700.1:p.Glu125=
troponin T, fast skeletal muscle isoform X8 XP_016873699.1:p.Glu127= XP_016873699.1:p.Glu127=
troponin T, fast skeletal muscle isoform X10 XP_016873701.1:p.Glu124= XP_016873701.1:p.Glu124=
troponin T, fast skeletal muscle isoform X11 XP_024304438.1:p.Glu123= XP_024304438.1:p.Glu123=
troponin T, fast skeletal muscle isoform X12 XP_024304439.1:p.Glu122= XP_024304439.1:p.Glu122=
troponin T, fast skeletal muscle isoform X13 XP_016873702.1:p.Glu119= XP_016873702.1:p.Glu119=
troponin T, fast skeletal muscle isoform X14 XP_016873703.1:p.Glu118= XP_016873703.1:p.Glu118=
troponin T, fast skeletal muscle isoform X16 XP_024304440.1:p.Glu116= XP_024304440.1:p.Glu116=
troponin T, fast skeletal muscle isoform X15 XP_016873704.1:p.Glu116= XP_016873704.1:p.Glu116=
troponin T, fast skeletal muscle isoform 8 NP_001354775.1:p.Glu142= NP_001354775.1:p.Glu142=
troponin T, fast skeletal muscle isoform 9 NP_001354777.1:p.Glu130= NP_001354777.1:p.Glu130=
troponin T, fast skeletal muscle isoform 6 NP_001354772.1:p.Glu129= NP_001354772.1:p.Glu129=
troponin T, fast skeletal muscle isoform 7 NP_001354774.1:p.Glu123= NP_001354774.1:p.Glu123=
troponin T, fast skeletal muscle isoform 5 NP_001354776.1:p.Glu134= NP_001354776.1:p.Glu134=
troponin T, fast skeletal muscle isoform 2 NP_001354771.1:p.Glu129= NP_001354771.1:p.Glu129=
troponin T, fast skeletal muscle isoform 11 NP_001354779.1:p.Glu112= NP_001354779.1:p.Glu112=
troponin T, fast skeletal muscle isoform 4 NP_001354773.1:p.Glu123= NP_001354773.1:p.Glu123=
troponin T, fast skeletal muscle isoform 12 NP_001354780.1:p.Glu63= NP_001354780.1:p.Glu63=
troponin T, fast skeletal muscle isoform 12 NP_001354781.1:p.Glu63= NP_001354781.1:p.Glu63=
troponin T, fast skeletal muscle isoform 10 NP_001354778.1:p.Glu127= NP_001354778.1:p.Glu127=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738704384 Nov 08, 2017 (151)
2 GNOMAD ss4228878297 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000011.10 - 1934358 Apr 26, 2021 (155)
4 ALFA NC_000011.10 - 1934358 Apr 26, 2021 (155)
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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
ss2738704384 NC_000011.9:1955587:G:A NC_000011.10:1934357:G:A (self)
369363502, 6743319537, ss4228878297 NC_000011.10:1934357:G:A NC_000011.10:1934357:G:A (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 rs1450304341

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