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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.

rs1481949449

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:17166892 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/140232, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TBC1D5 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 C=0.000 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
TopMed Global Study-wide 264690 G=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140232 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75942 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 42030 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13658 G=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=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 3 NC_000003.12:g.17166892G>C
GRCh37.p13 chr 3 NC_000003.11:g.17208384G>C
Gene: TBC1D5, TBC1 domain family member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TBC1D5 transcript variant 2 NM_014744.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_055559.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 8 NM_001349078.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_001336007.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 6 NM_001349076.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_001336005.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 7 NM_001349077.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_001336006.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 9 NM_001349079.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_001336008.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 19 NM_001349089.2:c.1561C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform e NP_001336018.1:p.Gln521Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 20 NM_001349090.2:c.1561C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform e NP_001336019.1:p.Gln521Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 3 NM_001349073.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform a NP_001336002.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 10 NM_001349080.2:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform b NP_001336009.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 15 NM_001349085.2:c.1627C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform d NP_001336014.1:p.Gln543Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 18 NM_001349088.2:c.1561C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform e NP_001336017.1:p.Gln521Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 14 NM_001349084.2:c.1627C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform d NP_001336013.1:p.Gln543Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 5 NM_001349075.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform a NP_001336004.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 1 NM_001134381.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform a NP_001127853.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 17 NM_001349087.2:c.1561C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform e NP_001336016.1:p.Gln521Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 16 NM_001349086.2:c.1627C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform d NP_001336015.1:p.Gln543Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 12 NM_001349082.2:c.1627C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform d NP_001336011.1:p.Gln543Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 4 NM_001349074.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform a NP_001336003.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 11 NM_001349081.2:c.1990C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform c NP_001336010.1:p.Gln664Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 13 NM_001349083.2:c.1627C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform d NP_001336012.1:p.Gln543Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant 21 NM_001349091.2:c.1561C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform e NP_001336020.1:p.Gln521Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X42 XM_047449320.1:c. N/A Genic Downstream Transcript Variant
TBC1D5 transcript variant X43 XM_047449321.1:c. N/A Genic Downstream Transcript Variant
TBC1D5 transcript variant X44 XM_047449322.1:c. N/A Genic Downstream Transcript Variant
TBC1D5 transcript variant X1 XM_017007553.3:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_016863042.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X2 XM_011534284.3:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_011532586.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X3 XM_017007556.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_016863045.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X4 XM_047449284.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305240.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X5 XM_011534283.4:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_011532585.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X6 XM_047449285.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305241.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X7 XM_047449286.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305242.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X8 XM_011534281.2:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_011532583.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X9 XM_047449287.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305243.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X10 XM_017007555.3:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_016863044.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X11 XM_047449288.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305244.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X12 XM_047449289.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305245.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X13 XM_047449290.1:c.2035C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X1 XP_047305246.1:p.Gln679Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X14 XM_047449291.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305247.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X15 XM_047449292.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305248.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X16 XM_047449293.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305249.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X17 XM_047449294.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305250.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X18 XM_047449295.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305251.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X19 XM_047449296.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305252.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X20 XM_047449297.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305253.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X21 XM_047449298.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305254.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X22 XM_047449299.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305255.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X23 XM_047449300.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305256.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X24 XM_047449301.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305257.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X25 XM_047449302.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305258.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X26 XM_047449303.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305259.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X27 XM_047449304.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305260.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X28 XM_047449305.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305261.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X29 XM_047449306.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305262.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X30 XM_047449308.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305264.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X31 XM_047449309.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305265.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X32 XM_047449310.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305266.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X33 XM_047449311.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305267.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X34 XM_047449312.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305268.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X35 XM_047449313.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305269.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X36 XM_047449314.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305270.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X37 XM_047449315.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305271.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X38 XM_047449316.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305272.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X39 XM_047449317.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305273.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X40 XM_047449318.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305274.1:p.Gln657Glu Q (Gln) > E (Glu) Missense Variant
TBC1D5 transcript variant X41 XM_047449319.1:c.1969C>G Q [CAG] > E [GAG] Coding Sequence Variant
TBC1 domain family member 5 isoform X2 XP_047305275.1:p.Gln657Glu Q (Gln) > E (Glu) 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 G= C
GRCh38.p14 chr 3 NC_000003.12:g.17166892= NC_000003.12:g.17166892G>C
GRCh37.p13 chr 3 NC_000003.11:g.17208384= NC_000003.11:g.17208384G>C
TBC1D5 transcript variant X5 XM_011534283.4:c.2035= XM_011534283.4:c.2035C>G
TBC1D5 transcript variant X9 XM_011534283.3:c.2035= XM_011534283.3:c.2035C>G
TBC1D5 transcript variant X10 XM_011534283.2:c.2035= XM_011534283.2:c.2035C>G
TBC1D5 transcript variant X5 XM_011534283.1:c.2035= XM_011534283.1:c.2035C>G
TBC1D5 transcript variant X1 XM_017007553.3:c.2035= XM_017007553.3:c.2035C>G
TBC1D5 transcript variant X2 XM_017007553.2:c.2035= XM_017007553.2:c.2035C>G
TBC1D5 transcript variant X2 XM_017007553.1:c.2035= XM_017007553.1:c.2035C>G
TBC1D5 transcript variant X10 XM_017007555.3:c.2035= XM_017007555.3:c.2035C>G
TBC1D5 transcript variant X6 XM_017007555.2:c.2035= XM_017007555.2:c.2035C>G
TBC1D5 transcript variant X7 XM_017007555.1:c.2035= XM_017007555.1:c.2035C>G
TBC1D5 transcript variant X2 XM_011534284.3:c.2035= XM_011534284.3:c.2035C>G
TBC1D5 transcript variant X7 XM_011534284.2:c.2035= XM_011534284.2:c.2035C>G
TBC1D5 transcript variant X7 XM_011534284.1:c.2035= XM_011534284.1:c.2035C>G
TBC1D5 transcript variant 2 NM_014744.2:c.1969= NM_014744.2:c.1969C>G
TBC1D5 transcript variant X8 XM_011534281.2:c.2035= XM_011534281.2:c.2035C>G
TBC1D5 transcript variant X3 XM_011534281.1:c.2035= XM_011534281.1:c.2035C>G
TBC1D5 transcript variant X3 XM_017007556.2:c.2035= XM_017007556.2:c.2035C>G
TBC1D5 transcript variant X8 XM_017007556.1:c.2035= XM_017007556.1:c.2035C>G
TBC1D5 transcript variant 9 NM_001349079.2:c.1969= NM_001349079.2:c.1969C>G
TBC1D5 transcript variant 9 NM_001349079.1:c.1969= NM_001349079.1:c.1969C>G
TBC1D5 transcript variant 18 NM_001349088.2:c.1561= NM_001349088.2:c.1561C>G
TBC1D5 transcript variant 18 NM_001349088.1:c.1561= NM_001349088.1:c.1561C>G
TBC1D5 transcript variant 12 NM_001349082.2:c.1627= NM_001349082.2:c.1627C>G
TBC1D5 transcript variant 12 NM_001349082.1:c.1627= NM_001349082.1:c.1627C>G
TBC1D5 transcript variant 14 NM_001349084.2:c.1627= NM_001349084.2:c.1627C>G
TBC1D5 transcript variant 14 NM_001349084.1:c.1627= NM_001349084.1:c.1627C>G
TBC1D5 transcript variant 15 NM_001349085.2:c.1627= NM_001349085.2:c.1627C>G
TBC1D5 transcript variant 15 NM_001349085.1:c.1627= NM_001349085.1:c.1627C>G
TBC1D5 transcript variant 6 NM_001349076.2:c.1969= NM_001349076.2:c.1969C>G
TBC1D5 transcript variant 6 NM_001349076.1:c.1969= NM_001349076.1:c.1969C>G
TBC1D5 transcript variant 5 NM_001349075.2:c.2035= NM_001349075.2:c.2035C>G
TBC1D5 transcript variant 5 NM_001349075.1:c.2035= NM_001349075.1:c.2035C>G
TBC1D5 transcript variant 1 NM_001134381.2:c.2035= NM_001134381.2:c.2035C>G
TBC1D5 transcript variant 1 NM_001134381.1:c.2035= NM_001134381.1:c.2035C>G
TBC1D5 transcript variant 4 NM_001349074.2:c.2035= NM_001349074.2:c.2035C>G
TBC1D5 transcript variant 4 NM_001349074.1:c.2035= NM_001349074.1:c.2035C>G
TBC1D5 transcript variant 7 NM_001349077.2:c.1969= NM_001349077.2:c.1969C>G
TBC1D5 transcript variant 7 NM_001349077.1:c.1969= NM_001349077.1:c.1969C>G
TBC1D5 transcript variant 11 NM_001349081.2:c.1990= NM_001349081.2:c.1990C>G
TBC1D5 transcript variant 11 NM_001349081.1:c.1990= NM_001349081.1:c.1990C>G
TBC1D5 transcript variant 20 NM_001349090.2:c.1561= NM_001349090.2:c.1561C>G
TBC1D5 transcript variant 20 NM_001349090.1:c.1561= NM_001349090.1:c.1561C>G
TBC1D5 transcript variant 3 NM_001349073.2:c.2035= NM_001349073.2:c.2035C>G
TBC1D5 transcript variant 3 NM_001349073.1:c.2035= NM_001349073.1:c.2035C>G
TBC1D5 transcript variant 8 NM_001349078.2:c.1969= NM_001349078.2:c.1969C>G
TBC1D5 transcript variant 8 NM_001349078.1:c.1969= NM_001349078.1:c.1969C>G
TBC1D5 transcript variant 13 NM_001349083.2:c.1627= NM_001349083.2:c.1627C>G
TBC1D5 transcript variant 13 NM_001349083.1:c.1627= NM_001349083.1:c.1627C>G
TBC1D5 transcript variant 19 NM_001349089.2:c.1561= NM_001349089.2:c.1561C>G
TBC1D5 transcript variant 19 NM_001349089.1:c.1561= NM_001349089.1:c.1561C>G
TBC1D5 transcript variant 10 NM_001349080.2:c.1969= NM_001349080.2:c.1969C>G
TBC1D5 transcript variant 10 NM_001349080.1:c.1969= NM_001349080.1:c.1969C>G
TBC1D5 transcript variant 16 NM_001349086.2:c.1627= NM_001349086.2:c.1627C>G
TBC1D5 transcript variant 16 NM_001349086.1:c.1627= NM_001349086.1:c.1627C>G
TBC1D5 transcript variant 17 NM_001349087.2:c.1561= NM_001349087.2:c.1561C>G
TBC1D5 transcript variant 17 NM_001349087.1:c.1561= NM_001349087.1:c.1561C>G
TBC1D5 transcript variant 21 NM_001349091.2:c.1561= NM_001349091.2:c.1561C>G
TBC1D5 transcript variant 21 NM_001349091.1:c.1561= NM_001349091.1:c.1561C>G
TBC1D5 transcript variant X23 XM_047449300.1:c.1969= XM_047449300.1:c.1969C>G
TBC1D5 transcript variant X38 XM_047449316.1:c.1969= XM_047449316.1:c.1969C>G
TBC1D5 transcript variant X40 XM_047449318.1:c.1969= XM_047449318.1:c.1969C>G
TBC1D5 transcript variant X15 XM_047449292.1:c.1969= XM_047449292.1:c.1969C>G
TBC1D5 transcript variant X29 XM_047449306.1:c.1969= XM_047449306.1:c.1969C>G
TBC1D5 transcript variant X20 XM_047449297.1:c.1969= XM_047449297.1:c.1969C>G
TBC1D5 transcript variant X32 XM_047449310.1:c.1969= XM_047449310.1:c.1969C>G
TBC1D5 transcript variant X18 XM_047449295.1:c.1969= XM_047449295.1:c.1969C>G
TBC1D5 transcript variant X6 XM_047449285.1:c.2035= XM_047449285.1:c.2035C>G
TBC1D5 transcript variant X11 XM_047449288.1:c.2035= XM_047449288.1:c.2035C>G
TBC1D5 transcript variant X9 XM_047449287.1:c.2035= XM_047449287.1:c.2035C>G
TBC1D5 transcript variant X25 XM_047449302.1:c.1969= XM_047449302.1:c.1969C>G
TBC1D5 transcript variant X41 XM_047449319.1:c.1969= XM_047449319.1:c.1969C>G
TBC1D5 transcript variant X22 XM_047449299.1:c.1969= XM_047449299.1:c.1969C>G
TBC1D5 transcript variant X31 XM_047449309.1:c.1969= XM_047449309.1:c.1969C>G
TBC1D5 transcript variant X21 XM_047449298.1:c.1969= XM_047449298.1:c.1969C>G
TBC1D5 transcript variant X12 XM_047449289.1:c.2035= XM_047449289.1:c.2035C>G
TBC1D5 transcript variant X26 XM_047449303.1:c.1969= XM_047449303.1:c.1969C>G
TBC1D5 transcript variant X35 XM_047449313.1:c.1969= XM_047449313.1:c.1969C>G
TBC1D5 transcript variant X13 XM_047449290.1:c.2035= XM_047449290.1:c.2035C>G
TBC1D5 transcript variant X33 XM_047449311.1:c.1969= XM_047449311.1:c.1969C>G
TBC1D5 transcript variant X34 XM_047449312.1:c.1969= XM_047449312.1:c.1969C>G
TBC1D5 transcript variant X39 XM_047449317.1:c.1969= XM_047449317.1:c.1969C>G
TBC1D5 transcript variant X30 XM_047449308.1:c.1969= XM_047449308.1:c.1969C>G
TBC1D5 transcript variant X24 XM_047449301.1:c.1969= XM_047449301.1:c.1969C>G
TBC1D5 transcript variant X37 XM_047449315.1:c.1969= XM_047449315.1:c.1969C>G
TBC1D5 transcript variant X17 XM_047449294.1:c.1969= XM_047449294.1:c.1969C>G
TBC1D5 transcript variant X7 XM_047449286.1:c.2035= XM_047449286.1:c.2035C>G
TBC1D5 transcript variant X4 XM_047449284.1:c.2035= XM_047449284.1:c.2035C>G
TBC1D5 transcript variant 3 NM_001134380.1:c.1969= NM_001134380.1:c.1969C>G
TBC1D5 transcript variant X28 XM_047449305.1:c.1969= XM_047449305.1:c.1969C>G
TBC1D5 transcript variant X14 XM_047449291.1:c.1969= XM_047449291.1:c.1969C>G
TBC1D5 transcript variant X27 XM_047449304.1:c.1969= XM_047449304.1:c.1969C>G
TBC1D5 transcript variant X16 XM_047449293.1:c.1969= XM_047449293.1:c.1969C>G
TBC1D5 transcript variant X36 XM_047449314.1:c.1969= XM_047449314.1:c.1969C>G
TBC1D5 transcript variant X19 XM_047449296.1:c.1969= XM_047449296.1:c.1969C>G
TBC1 domain family member 5 isoform X1 XP_011532585.1:p.Gln679= XP_011532585.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_016863042.1:p.Gln679= XP_016863042.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_016863044.1:p.Gln679= XP_016863044.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_011532586.1:p.Gln679= XP_011532586.1:p.Gln679Glu
TBC1 domain family member 5 isoform b NP_055559.1:p.Gln657= NP_055559.1:p.Gln657Glu
TBC1 domain family member 5 isoform X1 XP_011532583.1:p.Gln679= XP_011532583.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_016863045.1:p.Gln679= XP_016863045.1:p.Gln679Glu
TBC1 domain family member 5 isoform b NP_001336008.1:p.Gln657= NP_001336008.1:p.Gln657Glu
TBC1 domain family member 5 isoform e NP_001336017.1:p.Gln521= NP_001336017.1:p.Gln521Glu
TBC1 domain family member 5 isoform d NP_001336011.1:p.Gln543= NP_001336011.1:p.Gln543Glu
TBC1 domain family member 5 isoform d NP_001336013.1:p.Gln543= NP_001336013.1:p.Gln543Glu
TBC1 domain family member 5 isoform d NP_001336014.1:p.Gln543= NP_001336014.1:p.Gln543Glu
TBC1 domain family member 5 isoform b NP_001336005.1:p.Gln657= NP_001336005.1:p.Gln657Glu
TBC1 domain family member 5 isoform a NP_001336004.1:p.Gln679= NP_001336004.1:p.Gln679Glu
TBC1 domain family member 5 isoform a NP_001127853.1:p.Gln679= NP_001127853.1:p.Gln679Glu
TBC1 domain family member 5 isoform a NP_001336003.1:p.Gln679= NP_001336003.1:p.Gln679Glu
TBC1 domain family member 5 isoform b NP_001336006.1:p.Gln657= NP_001336006.1:p.Gln657Glu
TBC1 domain family member 5 isoform c NP_001336010.1:p.Gln664= NP_001336010.1:p.Gln664Glu
TBC1 domain family member 5 isoform e NP_001336019.1:p.Gln521= NP_001336019.1:p.Gln521Glu
TBC1 domain family member 5 isoform a NP_001336002.1:p.Gln679= NP_001336002.1:p.Gln679Glu
TBC1 domain family member 5 isoform b NP_001336007.1:p.Gln657= NP_001336007.1:p.Gln657Glu
TBC1 domain family member 5 isoform d NP_001336012.1:p.Gln543= NP_001336012.1:p.Gln543Glu
TBC1 domain family member 5 isoform e NP_001336018.1:p.Gln521= NP_001336018.1:p.Gln521Glu
TBC1 domain family member 5 isoform b NP_001336009.1:p.Gln657= NP_001336009.1:p.Gln657Glu
TBC1 domain family member 5 isoform d NP_001336015.1:p.Gln543= NP_001336015.1:p.Gln543Glu
TBC1 domain family member 5 isoform e NP_001336016.1:p.Gln521= NP_001336016.1:p.Gln521Glu
TBC1 domain family member 5 isoform e NP_001336020.1:p.Gln521= NP_001336020.1:p.Gln521Glu
TBC1 domain family member 5 isoform X2 XP_047305256.1:p.Gln657= XP_047305256.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305272.1:p.Gln657= XP_047305272.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305274.1:p.Gln657= XP_047305274.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305248.1:p.Gln657= XP_047305248.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305262.1:p.Gln657= XP_047305262.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305253.1:p.Gln657= XP_047305253.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305266.1:p.Gln657= XP_047305266.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305251.1:p.Gln657= XP_047305251.1:p.Gln657Glu
TBC1 domain family member 5 isoform X1 XP_047305241.1:p.Gln679= XP_047305241.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_047305244.1:p.Gln679= XP_047305244.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_047305243.1:p.Gln679= XP_047305243.1:p.Gln679Glu
TBC1 domain family member 5 isoform X2 XP_047305258.1:p.Gln657= XP_047305258.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305275.1:p.Gln657= XP_047305275.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305255.1:p.Gln657= XP_047305255.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305265.1:p.Gln657= XP_047305265.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305254.1:p.Gln657= XP_047305254.1:p.Gln657Glu
TBC1 domain family member 5 isoform X1 XP_047305245.1:p.Gln679= XP_047305245.1:p.Gln679Glu
TBC1 domain family member 5 isoform X2 XP_047305259.1:p.Gln657= XP_047305259.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305269.1:p.Gln657= XP_047305269.1:p.Gln657Glu
TBC1 domain family member 5 isoform X1 XP_047305246.1:p.Gln679= XP_047305246.1:p.Gln679Glu
TBC1 domain family member 5 isoform X2 XP_047305267.1:p.Gln657= XP_047305267.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305268.1:p.Gln657= XP_047305268.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305273.1:p.Gln657= XP_047305273.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305264.1:p.Gln657= XP_047305264.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305257.1:p.Gln657= XP_047305257.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305271.1:p.Gln657= XP_047305271.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305250.1:p.Gln657= XP_047305250.1:p.Gln657Glu
TBC1 domain family member 5 isoform X1 XP_047305242.1:p.Gln679= XP_047305242.1:p.Gln679Glu
TBC1 domain family member 5 isoform X1 XP_047305240.1:p.Gln679= XP_047305240.1:p.Gln679Glu
TBC1 domain family member 5 isoform X2 XP_047305261.1:p.Gln657= XP_047305261.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305247.1:p.Gln657= XP_047305247.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305260.1:p.Gln657= XP_047305260.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305249.1:p.Gln657= XP_047305249.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305270.1:p.Gln657= XP_047305270.1:p.Gln657Glu
TBC1 domain family member 5 isoform X2 XP_047305252.1:p.Gln657= XP_047305252.1:p.Gln657Glu
TBC1 domain family member 5 isoform b NP_001127852.1:p.Gln657= NP_001127852.1:p.Gln657Glu
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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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4066571727 Apr 27, 2021 (155)
2 TOPMED ss4555665728 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000003.12 - 17166892 Apr 27, 2021 (155)
4 TopMed NC_000003.12 - 17166892 Apr 27, 2021 (155)
5 ALFA NC_000003.12 - 17166892 Apr 27, 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
100256596, 393043283, 9334379221, ss4066571727, ss4555665728 NC_000003.12:17166891:G:C NC_000003.12:17166891:G:C (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 rs1481949449

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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.post820+afb47a3d