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.
rs1489158912
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr16:24805709 (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 / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)C=0.000004 (1/251428, GnomAD_exome)A=0.00000 (0/10680, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- TNRC6A : 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 | 10680 | G=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 6962 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2294 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 84 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2210 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 466 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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 | A=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251428 | G=0.999996 | C=0.000004 |
| gnomAD - Exomes | European | Sub | 135362 | G=0.999993 | C=0.000007 |
| gnomAD - Exomes | Asian | Sub | 49008 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34588 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | G=1.0000 | C=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 16 | NC_000016.10:g.24805709G>A |
| GRCh38.p14 chr 16 | NC_000016.10:g.24805709G>C |
| GRCh37.p13 chr 16 | NC_000016.9:g.24817030G>A |
| GRCh37.p13 chr 16 | NC_000016.9:g.24817030G>C |
| GRCh38.p14 chr 16 fix patch HG2471_PATCH | NW_021160019.1:g.56409G>A |
| GRCh38.p14 chr 16 fix patch HG2471_PATCH | NW_021160019.1:g.56409G>C |
Gene: TNRC6A, trinucleotide repeat containing adaptor 6A
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TNRC6A transcript variant 1 | NM_014494.4:c.4227G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 1 | NP_055309.2:p.Gln1409= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant 1 | NM_014494.4:c.4227G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 1 | NP_055309.2:p.Gln1409His | Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant 2 | NM_001330520.3:c.4080G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 2 | NP_001317449.1:p.Gln1360= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant 2 | NM_001330520.3:c.4080G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 2 |
NP_001317449.1:p.Gln1360H… NP_001317449.1:p.Gln1360His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant 3 | NM_001351850.2:c.4107G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 3 | NP_001338779.1:p.Gln1369= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant 3 | NM_001351850.2:c.4107G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform 3 |
NP_001338779.1:p.Gln1369H… NP_001338779.1:p.Gln1369His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X1 | XM_024450231.2:c.4254G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X1 | XP_024305999.1:p.Gln1418= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X1 | XM_024450231.2:c.4254G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X1 |
XP_024305999.1:p.Gln1418H… XP_024305999.1:p.Gln1418His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X2 | XM_017023144.3:c.4221G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X2 | XP_016878633.1:p.Gln1407= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X2 | XM_017023144.3:c.4221G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X2 |
XP_016878633.1:p.Gln1407H… XP_016878633.1:p.Gln1407His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X3 | XM_047433910.1:c.4194G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X3 | XP_047289866.1:p.Gln1398= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X3 | XM_047433910.1:c.4194G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X3 |
XP_047289866.1:p.Gln1398H… XP_047289866.1:p.Gln1398His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X4 | XM_017023145.3:c.4185G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X4 | XP_016878634.1:p.Gln1395= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X4 | XM_017023145.3:c.4185G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X4 |
XP_016878634.1:p.Gln1395H… XP_016878634.1:p.Gln1395His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X5 | XM_017023146.2:c.4179G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X5 | XP_016878635.1:p.Gln1393= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X5 | XM_017023146.2:c.4179G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X5 |
XP_016878635.1:p.Gln1393H… XP_016878635.1:p.Gln1393His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X6 | XM_047433911.1:c.4146G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X6 | XP_047289867.1:p.Gln1382= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X6 | XM_047433911.1:c.4146G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X6 |
XP_047289867.1:p.Gln1382H… XP_047289867.1:p.Gln1382His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X7 | XM_017023148.3:c.4077G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X7 | XP_016878637.1:p.Gln1359= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X7 | XM_017023148.3:c.4077G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X7 |
XP_016878637.1:p.Gln1359H… XP_016878637.1:p.Gln1359His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X8 | XM_024450232.2:c.4074G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X8 | XP_024306000.1:p.Gln1358= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X8 | XM_024450232.2:c.4074G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X8 |
XP_024306000.1:p.Gln1358H… XP_024306000.1:p.Gln1358His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X9 | XM_047433912.1:c.4050G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X9 | XP_047289868.1:p.Gln1350= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X9 | XM_047433912.1:c.4050G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X9 |
XP_047289868.1:p.Gln1350H… XP_047289868.1:p.Gln1350His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X10 | XM_047433913.1:c.4047G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X10 | XP_047289869.1:p.Gln1349= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X10 | XM_047433913.1:c.4047G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X10 |
XP_047289869.1:p.Gln1349H… XP_047289869.1:p.Gln1349His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X11 | XM_047433914.1:c.4044G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X11 | XP_047289870.1:p.Gln1348= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X11 | XM_047433914.1:c.4044G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X11 |
XP_047289870.1:p.Gln1348H… XP_047289870.1:p.Gln1348His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X12 | XM_017023150.3:c.4038G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X12 | XP_016878639.1:p.Gln1346= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X12 | XM_017023150.3:c.4038G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X12 |
XP_016878639.1:p.Gln1346H… XP_016878639.1:p.Gln1346His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X13 | XM_047433915.1:c.4032G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X13 | XP_047289871.1:p.Gln1344= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X13 | XM_047433915.1:c.4032G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X13 |
XP_047289871.1:p.Gln1344H… XP_047289871.1:p.Gln1344His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X14 | XM_047433916.1:c.4017G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X14 | XP_047289872.1:p.Gln1339= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X14 | XM_047433916.1:c.4017G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X14 |
XP_047289872.1:p.Gln1339H… XP_047289872.1:p.Gln1339His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X15 | XM_047433917.1:c.4011G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X15 | XP_047289873.1:p.Gln1337= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X15 | XM_047433917.1:c.4011G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X15 |
XP_047289873.1:p.Gln1337H… XP_047289873.1:p.Gln1337His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X16 | XM_047433918.1:c.4005G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X16 | XP_047289874.1:p.Gln1335= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X16 | XM_047433918.1:c.4005G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X16 |
XP_047289874.1:p.Gln1335H… XP_047289874.1:p.Gln1335His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X17 | XM_047433919.1:c.3999G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X17 | XP_047289875.1:p.Gln1333= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X17 | XM_047433919.1:c.3999G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X17 |
XP_047289875.1:p.Gln1333H… XP_047289875.1:p.Gln1333His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X18 | XM_047433920.1:c.3978G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X18 | XP_047289876.1:p.Gln1326= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X18 | XM_047433920.1:c.3978G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X18 |
XP_047289876.1:p.Gln1326H… XP_047289876.1:p.Gln1326His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X19 | XM_024450233.2:c.3930G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X19 | XP_024306001.1:p.Gln1310= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X19 | XM_024450233.2:c.3930G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X19 |
XP_024306001.1:p.Gln1310H… XP_024306001.1:p.Gln1310His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X20 | XM_047433921.1:c.3903G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X20 | XP_047289877.1:p.Gln1301= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X20 | XM_047433921.1:c.3903G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X20 |
XP_047289877.1:p.Gln1301H… XP_047289877.1:p.Gln1301His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X21 | XM_047433922.1:c.3897G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X21 | XP_047289878.1:p.Gln1299= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X21 | XM_047433922.1:c.3897G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X21 |
XP_047289878.1:p.Gln1299H… XP_047289878.1:p.Gln1299His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X22 | XM_047433923.1:c.3870G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X22 | XP_047289879.1:p.Gln1290= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X22 | XM_047433923.1:c.3870G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X22 |
XP_047289879.1:p.Gln1290H… XP_047289879.1:p.Gln1290His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X23 | XM_047433924.1:c.3861G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X23 | XP_047289880.1:p.Gln1287= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X23 | XM_047433924.1:c.3861G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X23 |
XP_047289880.1:p.Gln1287H… XP_047289880.1:p.Gln1287His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X24 | XM_047433925.1:c.3855G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X24 | XP_047289881.1:p.Gln1285= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X24 | XM_047433925.1:c.3855G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X24 |
XP_047289881.1:p.Gln1285H… XP_047289881.1:p.Gln1285His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X25 | XM_047433926.1:c.3834G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X25 | XP_047289882.1:p.Gln1278= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X25 | XM_047433926.1:c.3834G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X25 |
XP_047289882.1:p.Gln1278H… XP_047289882.1:p.Gln1278His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X26 | XM_047433927.1:c.3828G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X26 | XP_047289883.1:p.Gln1276= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X26 | XM_047433927.1:c.3828G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X26 |
XP_047289883.1:p.Gln1276H… XP_047289883.1:p.Gln1276His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X27 | XM_017023152.3:c.3828G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X27 | XP_016878641.1:p.Gln1276= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X27 | XM_017023152.3:c.3828G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X27 |
XP_016878641.1:p.Gln1276H… XP_016878641.1:p.Gln1276His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X28 | XM_047433928.1:c.3822G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X28 | XP_047289884.1:p.Gln1274= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X28 | XM_047433928.1:c.3822G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X28 |
XP_047289884.1:p.Gln1274H… XP_047289884.1:p.Gln1274His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X29 | XM_047433929.1:c.3822G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X29 | XP_047289885.1:p.Gln1274= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X29 | XM_047433929.1:c.3822G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X29 |
XP_047289885.1:p.Gln1274H… XP_047289885.1:p.Gln1274His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X30 | XM_047433930.1:c.3801G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X30 | XP_047289886.1:p.Gln1267= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X30 | XM_047433930.1:c.3801G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X30 |
XP_047289886.1:p.Gln1267H… XP_047289886.1:p.Gln1267His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X31 | XM_047433931.1:c.3801G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X31 | XP_047289887.1:p.Gln1267= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X31 | XM_047433931.1:c.3801G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X31 |
XP_047289887.1:p.Gln1267H… XP_047289887.1:p.Gln1267His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X32 | XM_047433932.1:c.3789G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X32 | XP_047289888.1:p.Gln1263= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X32 | XM_047433932.1:c.3789G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X32 |
XP_047289888.1:p.Gln1263H… XP_047289888.1:p.Gln1263His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X33 | XM_047433933.1:c.3753G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X33 | XP_047289889.1:p.Gln1251= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X33 | XM_047433933.1:c.3753G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X33 |
XP_047289889.1:p.Gln1251H… XP_047289889.1:p.Gln1251His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X34 | XM_047433934.1:c.3720G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X34 | XP_047289890.1:p.Gln1240= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X34 | XM_047433934.1:c.3720G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X34 |
XP_047289890.1:p.Gln1240H… XP_047289890.1:p.Gln1240His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X35 | XM_047433935.1:c.3654G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X35 | XP_047289891.1:p.Gln1218= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X35 | XM_047433935.1:c.3654G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X35 |
XP_047289891.1:p.Gln1218H… XP_047289891.1:p.Gln1218His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X36 | XM_047433936.1:c.3477G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X36 | XP_047289892.1:p.Gln1159= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X36 | XM_047433936.1:c.3477G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X36 |
XP_047289892.1:p.Gln1159H… XP_047289892.1:p.Gln1159His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X37 | XM_047433937.1:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289893.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X37 | XM_047433937.1:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_047289893.1:p.Gln1156H… XP_047289893.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X38 | XM_047433938.1:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289894.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X38 | XM_047433938.1:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_047289894.1:p.Gln1156H… XP_047289894.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X39 | XM_017023153.2:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_016878642.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X39 | XM_017023153.2:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_016878642.1:p.Gln1156H… XP_016878642.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X40 | XM_047433939.1:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289895.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X40 | XM_047433939.1:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_047289895.1:p.Gln1156H… XP_047289895.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X41 | XM_047433940.1:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289896.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X41 | XM_047433940.1:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_047289896.1:p.Gln1156H… XP_047289896.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X42 | XM_005255257.5:c.3468G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_005255314.1:p.Gln1156= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X42 | XM_005255257.5:c.3468G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X37 |
XP_005255314.1:p.Gln1156H… XP_005255314.1:p.Gln1156His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X43 | XM_047433941.1:c.3444G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X38 | XP_047289897.1:p.Gln1148= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X43 | XM_047433941.1:c.3444G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X38 |
XP_047289897.1:p.Gln1148H… XP_047289897.1:p.Gln1148His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X44 | XM_047433942.1:c.3429G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X39 | XP_047289898.1:p.Gln1143= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X44 | XM_047433942.1:c.3429G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X39 |
XP_047289898.1:p.Gln1143H… XP_047289898.1:p.Gln1143His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X45 | XM_047433943.1:c.3408G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X40 | XP_047289899.1:p.Gln1136= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X45 | XM_047433943.1:c.3408G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X40 |
XP_047289899.1:p.Gln1136H… XP_047289899.1:p.Gln1136His |
Q (Gln) > H (His) | Missense Variant |
| TNRC6A transcript variant X46 | XM_047433944.1:c.3363G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X41 | XP_047289900.1:p.Gln1121= | Q (Gln) > Q (Gln) | Synonymous Variant |
| TNRC6A transcript variant X46 | XM_047433944.1:c.3363G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| trinucleotide repeat-containing gene 6A protein isoform X41 |
XP_047289900.1:p.Gln1121H… XP_047289900.1:p.Gln1121His |
Q (Gln) > H (His) | 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= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 16 | NC_000016.10:g.24805709= | NC_000016.10:g.24805709G>A | NC_000016.10:g.24805709G>C |
| GRCh37.p13 chr 16 | NC_000016.9:g.24817030= | NC_000016.9:g.24817030G>A | NC_000016.9:g.24817030G>C |
| GRCh38.p14 chr 16 fix patch HG2471_PATCH | NW_021160019.1:g.56409= | NW_021160019.1:g.56409G>A | NW_021160019.1:g.56409G>C |
| TNRC6A transcript variant X42 | XM_005255257.5:c.3468= | XM_005255257.5:c.3468G>A | XM_005255257.5:c.3468G>C |
| TNRC6A transcript variant X11 | XM_005255257.4:c.3468= | XM_005255257.4:c.3468G>A | XM_005255257.4:c.3468G>C |
| TNRC6A transcript variant X7 | XM_005255257.3:c.3468= | XM_005255257.3:c.3468G>A | XM_005255257.3:c.3468G>C |
| TNRC6A transcript variant X5 | XM_005255257.2:c.3468= | XM_005255257.2:c.3468G>A | XM_005255257.2:c.3468G>C |
| TNRC6A transcript variant X5 | XM_005255257.1:c.3468= | XM_005255257.1:c.3468G>A | XM_005255257.1:c.3468G>C |
| TNRC6A transcript variant 1 | NM_014494.4:c.4227= | NM_014494.4:c.4227G>A | NM_014494.4:c.4227G>C |
| TNRC6A transcript variant 1 | NM_014494.3:c.4227= | NM_014494.3:c.4227G>A | NM_014494.3:c.4227G>C |
| TNRC6A transcript variant 1 | NM_014494.2:c.4227= | NM_014494.2:c.4227G>A | NM_014494.2:c.4227G>C |
| TNRC6A transcript variant X2 | XM_017023144.3:c.4221= | XM_017023144.3:c.4221G>A | XM_017023144.3:c.4221G>C |
| TNRC6A transcript variant X2 | XM_017023144.2:c.4221= | XM_017023144.2:c.4221G>A | XM_017023144.2:c.4221G>C |
| TNRC6A transcript variant X2 | XM_017023144.1:c.4221= | XM_017023144.1:c.4221G>A | XM_017023144.1:c.4221G>C |
| TNRC6A transcript variant X4 | XM_017023145.3:c.4185= | XM_017023145.3:c.4185G>A | XM_017023145.3:c.4185G>C |
| TNRC6A transcript variant X3 | XM_017023145.2:c.4185= | XM_017023145.2:c.4185G>A | XM_017023145.2:c.4185G>C |
| TNRC6A transcript variant X3 | XM_017023145.1:c.4185= | XM_017023145.1:c.4185G>A | XM_017023145.1:c.4185G>C |
| TNRC6A transcript variant X7 | XM_017023148.3:c.4077= | XM_017023148.3:c.4077G>A | XM_017023148.3:c.4077G>C |
| TNRC6A transcript variant X5 | XM_017023148.2:c.4077= | XM_017023148.2:c.4077G>A | XM_017023148.2:c.4077G>C |
| TNRC6A transcript variant X7 | XM_017023148.1:c.4077= | XM_017023148.1:c.4077G>A | XM_017023148.1:c.4077G>C |
| TNRC6A transcript variant X12 | XM_017023150.3:c.4038= | XM_017023150.3:c.4038G>A | XM_017023150.3:c.4038G>C |
| TNRC6A transcript variant X7 | XM_017023150.2:c.4038= | XM_017023150.2:c.4038G>A | XM_017023150.2:c.4038G>C |
| TNRC6A transcript variant X9 | XM_017023150.1:c.4038= | XM_017023150.1:c.4038G>A | XM_017023150.1:c.4038G>C |
| TNRC6A transcript variant 2 | NM_001330520.3:c.4080= | NM_001330520.3:c.4080G>A | NM_001330520.3:c.4080G>C |
| TNRC6A transcript variant 2 | NM_001330520.2:c.4080= | NM_001330520.2:c.4080G>A | NM_001330520.2:c.4080G>C |
| TNRC6A transcript variant 2 | NM_001330520.1:c.4080= | NM_001330520.1:c.4080G>A | NM_001330520.1:c.4080G>C |
| TNRC6A transcript variant X27 | XM_017023152.3:c.3828= | XM_017023152.3:c.3828G>A | XM_017023152.3:c.3828G>C |
| TNRC6A transcript variant X9 | XM_017023152.2:c.3828= | XM_017023152.2:c.3828G>A | XM_017023152.2:c.3828G>C |
| TNRC6A transcript variant X11 | XM_017023152.1:c.3828= | XM_017023152.1:c.3828G>A | XM_017023152.1:c.3828G>C |
| TNRC6A transcript variant X1 | XM_024450231.2:c.4254= | XM_024450231.2:c.4254G>A | XM_024450231.2:c.4254G>C |
| TNRC6A transcript variant X1 | XM_024450231.1:c.4254= | XM_024450231.1:c.4254G>A | XM_024450231.1:c.4254G>C |
| TNRC6A transcript variant 3 | NM_001351850.2:c.4107= | NM_001351850.2:c.4107G>A | NM_001351850.2:c.4107G>C |
| TNRC6A transcript variant 3 | NM_001351850.1:c.4107= | NM_001351850.1:c.4107G>A | NM_001351850.1:c.4107G>C |
| TNRC6A transcript variant X8 | XM_024450232.2:c.4074= | XM_024450232.2:c.4074G>A | XM_024450232.2:c.4074G>C |
| TNRC6A transcript variant X6 | XM_024450232.1:c.4074= | XM_024450232.1:c.4074G>A | XM_024450232.1:c.4074G>C |
| TNRC6A transcript variant X5 | XM_017023146.2:c.4179= | XM_017023146.2:c.4179G>A | XM_017023146.2:c.4179G>C |
| TNRC6A transcript variant X4 | XM_017023146.1:c.4179= | XM_017023146.1:c.4179G>A | XM_017023146.1:c.4179G>C |
| TNRC6A transcript variant X39 | XM_017023153.2:c.3468= | XM_017023153.2:c.3468G>A | XM_017023153.2:c.3468G>C |
| TNRC6A transcript variant X10 | XM_017023153.1:c.3468= | XM_017023153.1:c.3468G>A | XM_017023153.1:c.3468G>C |
| TNRC6A transcript variant X19 | XM_024450233.2:c.3930= | XM_024450233.2:c.3930G>A | XM_024450233.2:c.3930G>C |
| TNRC6A transcript variant X8 | XM_024450233.1:c.3930= | XM_024450233.1:c.3930G>A | XM_024450233.1:c.3930G>C |
| TNRC6A transcript variant X3 | XM_047433910.1:c.4194= | XM_047433910.1:c.4194G>A | XM_047433910.1:c.4194G>C |
| TNRC6A transcript variant X11 | XM_047433914.1:c.4044= | XM_047433914.1:c.4044G>A | XM_047433914.1:c.4044G>C |
| TNRC6A transcript variant X16 | XM_047433918.1:c.4005= | XM_047433918.1:c.4005G>A | XM_047433918.1:c.4005G>C |
| TNRC6A transcript variant X40 | XM_047433939.1:c.3468= | XM_047433939.1:c.3468G>A | XM_047433939.1:c.3468G>C |
| TNRC6A transcript variant X41 | XM_047433940.1:c.3468= | XM_047433940.1:c.3468G>A | XM_047433940.1:c.3468G>C |
| TNRC6A transcript variant X9 | XM_047433912.1:c.4050= | XM_047433912.1:c.4050G>A | XM_047433912.1:c.4050G>C |
| TNRC6A transcript variant X10 | XM_047433913.1:c.4047= | XM_047433913.1:c.4047G>A | XM_047433913.1:c.4047G>C |
| TNRC6A transcript variant X6 | XM_047433911.1:c.4146= | XM_047433911.1:c.4146G>A | XM_047433911.1:c.4146G>C |
| TNRC6A transcript variant X21 | XM_047433922.1:c.3897= | XM_047433922.1:c.3897G>A | XM_047433922.1:c.3897G>C |
| TNRC6A transcript variant X13 | XM_047433915.1:c.4032= | XM_047433915.1:c.4032G>A | XM_047433915.1:c.4032G>C |
| TNRC6A transcript variant X14 | XM_047433916.1:c.4017= | XM_047433916.1:c.4017G>A | XM_047433916.1:c.4017G>C |
| TNRC6A transcript variant X15 | XM_047433917.1:c.4011= | XM_047433917.1:c.4011G>A | XM_047433917.1:c.4011G>C |
| TNRC6A transcript variant X23 | XM_047433924.1:c.3861= | XM_047433924.1:c.3861G>A | XM_047433924.1:c.3861G>C |
| TNRC6A transcript variant X18 | XM_047433920.1:c.3978= | XM_047433920.1:c.3978G>A | XM_047433920.1:c.3978G>C |
| TNRC6A transcript variant X26 | XM_047433927.1:c.3828= | XM_047433927.1:c.3828G>A | XM_047433927.1:c.3828G>C |
| TNRC6A transcript variant X37 | XM_047433937.1:c.3468= | XM_047433937.1:c.3468G>A | XM_047433937.1:c.3468G>C |
| TNRC6A transcript variant X38 | XM_047433938.1:c.3468= | XM_047433938.1:c.3468G>A | XM_047433938.1:c.3468G>C |
| TNRC6A transcript variant X20 | XM_047433921.1:c.3903= | XM_047433921.1:c.3903G>A | XM_047433921.1:c.3903G>C |
| TNRC6A transcript variant X17 | XM_047433919.1:c.3999= | XM_047433919.1:c.3999G>A | XM_047433919.1:c.3999G>C |
| TNRC6A transcript variant X22 | XM_047433923.1:c.3870= | XM_047433923.1:c.3870G>A | XM_047433923.1:c.3870G>C |
| TNRC6A transcript variant X24 | XM_047433925.1:c.3855= | XM_047433925.1:c.3855G>A | XM_047433925.1:c.3855G>C |
| TNRC6A transcript variant X25 | XM_047433926.1:c.3834= | XM_047433926.1:c.3834G>A | XM_047433926.1:c.3834G>C |
| TNRC6A transcript variant X29 | XM_047433929.1:c.3822= | XM_047433929.1:c.3822G>A | XM_047433929.1:c.3822G>C |
| TNRC6A transcript variant X31 | XM_047433931.1:c.3801= | XM_047433931.1:c.3801G>A | XM_047433931.1:c.3801G>C |
| TNRC6A transcript variant X30 | XM_047433930.1:c.3801= | XM_047433930.1:c.3801G>A | XM_047433930.1:c.3801G>C |
| TNRC6A transcript variant X28 | XM_047433928.1:c.3822= | XM_047433928.1:c.3822G>A | XM_047433928.1:c.3822G>C |
| TNRC6A transcript variant X32 | XM_047433932.1:c.3789= | XM_047433932.1:c.3789G>A | XM_047433932.1:c.3789G>C |
| TNRC6A transcript variant X35 | XM_047433935.1:c.3654= | XM_047433935.1:c.3654G>A | XM_047433935.1:c.3654G>C |
| TNRC6A transcript variant X33 | XM_047433933.1:c.3753= | XM_047433933.1:c.3753G>A | XM_047433933.1:c.3753G>C |
| TNRC6A transcript variant X34 | XM_047433934.1:c.3720= | XM_047433934.1:c.3720G>A | XM_047433934.1:c.3720G>C |
| TNRC6A transcript variant X36 | XM_047433936.1:c.3477= | XM_047433936.1:c.3477G>A | XM_047433936.1:c.3477G>C |
| TNRC6A transcript variant X43 | XM_047433941.1:c.3444= | XM_047433941.1:c.3444G>A | XM_047433941.1:c.3444G>C |
| TNRC6A transcript variant X44 | XM_047433942.1:c.3429= | XM_047433942.1:c.3429G>A | XM_047433942.1:c.3429G>C |
| TNRC6A transcript variant X45 | XM_047433943.1:c.3408= | XM_047433943.1:c.3408G>A | XM_047433943.1:c.3408G>C |
| TNRC6A transcript variant X46 | XM_047433944.1:c.3363= | XM_047433944.1:c.3363G>A | XM_047433944.1:c.3363G>C |
| TNRC6A transcript variant 2 | NM_020847.1:c.4227= | NM_020847.1:c.4227G>A | NM_020847.1:c.4227G>C |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_005255314.1:p.Gln1156= | XP_005255314.1:p.Gln1156= | XP_005255314.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform 1 | NP_055309.2:p.Gln1409= | NP_055309.2:p.Gln1409= | NP_055309.2:p.Gln1409His |
| trinucleotide repeat-containing gene 6A protein isoform X2 | XP_016878633.1:p.Gln1407= | XP_016878633.1:p.Gln1407= | XP_016878633.1:p.Gln1407His |
| trinucleotide repeat-containing gene 6A protein isoform X4 | XP_016878634.1:p.Gln1395= | XP_016878634.1:p.Gln1395= | XP_016878634.1:p.Gln1395His |
| trinucleotide repeat-containing gene 6A protein isoform X7 | XP_016878637.1:p.Gln1359= | XP_016878637.1:p.Gln1359= | XP_016878637.1:p.Gln1359His |
| trinucleotide repeat-containing gene 6A protein isoform X12 | XP_016878639.1:p.Gln1346= | XP_016878639.1:p.Gln1346= | XP_016878639.1:p.Gln1346His |
| trinucleotide repeat-containing gene 6A protein isoform 2 | NP_001317449.1:p.Gln1360= | NP_001317449.1:p.Gln1360= | NP_001317449.1:p.Gln1360His |
| trinucleotide repeat-containing gene 6A protein isoform X27 | XP_016878641.1:p.Gln1276= | XP_016878641.1:p.Gln1276= | XP_016878641.1:p.Gln1276His |
| trinucleotide repeat-containing gene 6A protein isoform X1 | XP_024305999.1:p.Gln1418= | XP_024305999.1:p.Gln1418= | XP_024305999.1:p.Gln1418His |
| trinucleotide repeat-containing gene 6A protein isoform 3 | NP_001338779.1:p.Gln1369= | NP_001338779.1:p.Gln1369= | NP_001338779.1:p.Gln1369His |
| trinucleotide repeat-containing gene 6A protein isoform X8 | XP_024306000.1:p.Gln1358= | XP_024306000.1:p.Gln1358= | XP_024306000.1:p.Gln1358His |
| trinucleotide repeat-containing gene 6A protein isoform X5 | XP_016878635.1:p.Gln1393= | XP_016878635.1:p.Gln1393= | XP_016878635.1:p.Gln1393His |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_016878642.1:p.Gln1156= | XP_016878642.1:p.Gln1156= | XP_016878642.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform X19 | XP_024306001.1:p.Gln1310= | XP_024306001.1:p.Gln1310= | XP_024306001.1:p.Gln1310His |
| trinucleotide repeat-containing gene 6A protein isoform X3 | XP_047289866.1:p.Gln1398= | XP_047289866.1:p.Gln1398= | XP_047289866.1:p.Gln1398His |
| trinucleotide repeat-containing gene 6A protein isoform X11 | XP_047289870.1:p.Gln1348= | XP_047289870.1:p.Gln1348= | XP_047289870.1:p.Gln1348His |
| trinucleotide repeat-containing gene 6A protein isoform X16 | XP_047289874.1:p.Gln1335= | XP_047289874.1:p.Gln1335= | XP_047289874.1:p.Gln1335His |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289895.1:p.Gln1156= | XP_047289895.1:p.Gln1156= | XP_047289895.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289896.1:p.Gln1156= | XP_047289896.1:p.Gln1156= | XP_047289896.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform X9 | XP_047289868.1:p.Gln1350= | XP_047289868.1:p.Gln1350= | XP_047289868.1:p.Gln1350His |
| trinucleotide repeat-containing gene 6A protein isoform X10 | XP_047289869.1:p.Gln1349= | XP_047289869.1:p.Gln1349= | XP_047289869.1:p.Gln1349His |
| trinucleotide repeat-containing gene 6A protein isoform X6 | XP_047289867.1:p.Gln1382= | XP_047289867.1:p.Gln1382= | XP_047289867.1:p.Gln1382His |
| trinucleotide repeat-containing gene 6A protein isoform X21 | XP_047289878.1:p.Gln1299= | XP_047289878.1:p.Gln1299= | XP_047289878.1:p.Gln1299His |
| trinucleotide repeat-containing gene 6A protein isoform X13 | XP_047289871.1:p.Gln1344= | XP_047289871.1:p.Gln1344= | XP_047289871.1:p.Gln1344His |
| trinucleotide repeat-containing gene 6A protein isoform X14 | XP_047289872.1:p.Gln1339= | XP_047289872.1:p.Gln1339= | XP_047289872.1:p.Gln1339His |
| trinucleotide repeat-containing gene 6A protein isoform X15 | XP_047289873.1:p.Gln1337= | XP_047289873.1:p.Gln1337= | XP_047289873.1:p.Gln1337His |
| trinucleotide repeat-containing gene 6A protein isoform X23 | XP_047289880.1:p.Gln1287= | XP_047289880.1:p.Gln1287= | XP_047289880.1:p.Gln1287His |
| trinucleotide repeat-containing gene 6A protein isoform X18 | XP_047289876.1:p.Gln1326= | XP_047289876.1:p.Gln1326= | XP_047289876.1:p.Gln1326His |
| trinucleotide repeat-containing gene 6A protein isoform X26 | XP_047289883.1:p.Gln1276= | XP_047289883.1:p.Gln1276= | XP_047289883.1:p.Gln1276His |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289893.1:p.Gln1156= | XP_047289893.1:p.Gln1156= | XP_047289893.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform X37 | XP_047289894.1:p.Gln1156= | XP_047289894.1:p.Gln1156= | XP_047289894.1:p.Gln1156His |
| trinucleotide repeat-containing gene 6A protein isoform X20 | XP_047289877.1:p.Gln1301= | XP_047289877.1:p.Gln1301= | XP_047289877.1:p.Gln1301His |
| trinucleotide repeat-containing gene 6A protein isoform X17 | XP_047289875.1:p.Gln1333= | XP_047289875.1:p.Gln1333= | XP_047289875.1:p.Gln1333His |
| trinucleotide repeat-containing gene 6A protein isoform X22 | XP_047289879.1:p.Gln1290= | XP_047289879.1:p.Gln1290= | XP_047289879.1:p.Gln1290His |
| trinucleotide repeat-containing gene 6A protein isoform X24 | XP_047289881.1:p.Gln1285= | XP_047289881.1:p.Gln1285= | XP_047289881.1:p.Gln1285His |
| trinucleotide repeat-containing gene 6A protein isoform X25 | XP_047289882.1:p.Gln1278= | XP_047289882.1:p.Gln1278= | XP_047289882.1:p.Gln1278His |
| trinucleotide repeat-containing gene 6A protein isoform X29 | XP_047289885.1:p.Gln1274= | XP_047289885.1:p.Gln1274= | XP_047289885.1:p.Gln1274His |
| trinucleotide repeat-containing gene 6A protein isoform X31 | XP_047289887.1:p.Gln1267= | XP_047289887.1:p.Gln1267= | XP_047289887.1:p.Gln1267His |
| trinucleotide repeat-containing gene 6A protein isoform X30 | XP_047289886.1:p.Gln1267= | XP_047289886.1:p.Gln1267= | XP_047289886.1:p.Gln1267His |
| trinucleotide repeat-containing gene 6A protein isoform X28 | XP_047289884.1:p.Gln1274= | XP_047289884.1:p.Gln1274= | XP_047289884.1:p.Gln1274His |
| trinucleotide repeat-containing gene 6A protein isoform X32 | XP_047289888.1:p.Gln1263= | XP_047289888.1:p.Gln1263= | XP_047289888.1:p.Gln1263His |
| trinucleotide repeat-containing gene 6A protein isoform X35 | XP_047289891.1:p.Gln1218= | XP_047289891.1:p.Gln1218= | XP_047289891.1:p.Gln1218His |
| trinucleotide repeat-containing gene 6A protein isoform X33 | XP_047289889.1:p.Gln1251= | XP_047289889.1:p.Gln1251= | XP_047289889.1:p.Gln1251His |
| trinucleotide repeat-containing gene 6A protein isoform X34 | XP_047289890.1:p.Gln1240= | XP_047289890.1:p.Gln1240= | XP_047289890.1:p.Gln1240His |
| trinucleotide repeat-containing gene 6A protein isoform X36 | XP_047289892.1:p.Gln1159= | XP_047289892.1:p.Gln1159= | XP_047289892.1:p.Gln1159His |
| trinucleotide repeat-containing gene 6A protein isoform X38 | XP_047289897.1:p.Gln1148= | XP_047289897.1:p.Gln1148= | XP_047289897.1:p.Gln1148His |
| trinucleotide repeat-containing gene 6A protein isoform X39 | XP_047289898.1:p.Gln1143= | XP_047289898.1:p.Gln1143= | XP_047289898.1:p.Gln1143His |
| trinucleotide repeat-containing gene 6A protein isoform X40 | XP_047289899.1:p.Gln1136= | XP_047289899.1:p.Gln1136= | XP_047289899.1:p.Gln1136His |
| trinucleotide repeat-containing gene 6A protein isoform X41 | XP_047289900.1:p.Gln1121= | XP_047289900.1:p.Gln1121= | XP_047289900.1:p.Gln1121His |
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 | GNOMAD | ss2741851478 | Nov 08, 2017 (151) |
| 2 | TOPMED | ss5011409032 | Apr 27, 2021 (155) |
| 3 | gnomAD - Exomes | NC_000016.9 - 24817030 | Jul 13, 2019 (153) |
| 4 | TopMed | NC_000016.10 - 24805709 | Apr 27, 2021 (155) |
| 5 | ALFA | NC_000016.10 - 24805709 | Apr 27, 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).
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 rs1489158912
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
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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.
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.