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.
rs748273011
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:156779017 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000227 (60/264690, TOPMED)T=0.000082 (11/133514, GnomAD)T=0.00021 (3/14050, ALFA) (+ 4 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
ARID1B : Missense VariantLOC115308161 : 2KB Upstream Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14050 | C=0.99979 | T=0.00021 |
| European | Sub | 9690 | C=0.9999 | T=0.0001 |
| African | Sub | 2898 | C=1.0000 | T=0.0000 |
| African Others | Sub | 114 | C=1.000 | T=0.000 |
| African American | Sub | 2784 | C=1.0000 | T=0.0000 |
| Asian | Sub | 112 | C=1.000 | T=0.000 |
| East Asian | Sub | 86 | C=1.00 | T=0.00 |
| Other Asian | Sub | 26 | C=1.00 | T=0.00 |
| Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
| Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
| South Asian | Sub | 98 | C=0.98 | T=0.02 |
| Other | Sub | 496 | C=1.000 | T=0.000 |
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 | C=0.999773 | T=0.000227 |
| gnomAD - Genomes | Global | Study-wide | 133514 | C=0.999918 | T=0.000082 |
| gnomAD - Genomes | European | Sub | 72272 | C=0.99993 | T=0.00007 |
| gnomAD - Genomes | African | Sub | 39724 | C=0.99997 | T=0.00003 |
| gnomAD - Genomes | American | Sub | 13168 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3258 | C=0.9988 | T=0.0012 |
| gnomAD - Genomes | East Asian | Sub | 3046 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2046 | C=0.9995 | T=0.0005 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=0.99979 | T=0.00021 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=0.9999 | T=0.0001 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=0.98 | T=0.02 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9992 | T=0.0008 |
| 1000Genomes_30x | African | Sub | 1786 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9967 | T=0.0033 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | C=0.999 | T=0.001 |
| ExAC | Global | Study-wide | 12 | C=1.00 | T=0.00 |
| ExAC | Asian | Sub | 10 | C=1.0 | T=0.0 |
| ExAC | Europe | Sub | 2 | C=1.0 | T=0.0 |
| ExAC | African | Sub | 0 | C=0 | T=0 |
| ExAC | American | Sub | 0 | C=0 | T=0 |
| ExAC | Other | Sub | 0 | C=0 | T=0 |
| SGDP_PRJ | Global | Study-wide | 2 | C=0.5 | T=0.5 |
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 6 | NC_000006.12:g.156779017C>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.156779017C>G |
| GRCh38.p14 chr 6 | NC_000006.12:g.156779017C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.157100151C>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.157100151C>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.157100151C>T |
| ARID1B RefSeqGene | NG_066624.1:g.7992C>A |
| ARID1B RefSeqGene | NG_066624.1:g.7992C>G |
| ARID1B RefSeqGene | NG_066624.1:g.7992C>T |
Gene: ARID1B, AT-rich interaction domain 1B
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ARID1B transcript variant 4 | NM_001363725.2:c. | N/A | Genic Upstream Transcript Variant |
| ARID1B transcript variant 5 | NM_001371656.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001358585.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant 5 | NM_001371656.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001358585.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant 5 | NM_001371656.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001358585.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant 2 | NM_001374820.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001361749.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant 2 | NM_001374820.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001361749.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant 2 | NM_001374820.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001361749.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant 3 | NM_001374828.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 3 | NP_001361757.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant 3 | NM_001374828.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 3 | NP_001361757.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant 3 | NM_001374828.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 3 | NP_001361757.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant 1 | NM_017519.3:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 1 | NP_059989.3:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant 1 | NM_017519.3:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 1 | NP_059989.3:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant 1 | NM_017519.3:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform 1 | NP_059989.3:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X31 | XM_011535988.4:c. | N/A | Genic Upstream Transcript Variant |
| ARID1B transcript variant X28 | XM_047419153.1:c. | N/A | Genic Upstream Transcript Variant |
| ARID1B transcript variant X29 | XM_047419154.1:c. | N/A | Genic Upstream Transcript Variant |
| ARID1B transcript variant X32 | XM_047419156.1:c. | N/A | Genic Upstream Transcript Variant |
| ARID1B transcript variant X1 | XM_011535984.3:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X1 | XP_011534286.3:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X1 | XM_011535984.3:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X1 | XP_011534286.3:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X1 | XM_011535984.3:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X1 | XP_011534286.3:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X2 | XM_047419130.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X2 | XP_047275086.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X2 | XM_047419130.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X2 | XP_047275086.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X2 | XM_047419130.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X2 | XP_047275086.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X3 | XM_047419131.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X3 | XP_047275087.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X3 | XM_047419131.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X3 | XP_047275087.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X3 | XM_047419131.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X3 | XP_047275087.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X4 | XM_047419132.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X4 | XP_047275088.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X4 | XM_047419132.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X4 | XP_047275088.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X4 | XM_047419132.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X4 | XP_047275088.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X5 | XM_017011104.2:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X5 | XP_016866593.2:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X5 | XM_017011104.2:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X5 | XP_016866593.2:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X5 | XM_017011104.2:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X5 | XP_016866593.2:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X6 | XM_017011105.3:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X6 | XP_016866594.2:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X6 | XM_017011105.3:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X6 | XP_016866594.2:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X6 | XM_017011105.3:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X6 | XP_016866594.2:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X7 | XM_047419133.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X7 | XP_047275089.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X7 | XM_047419133.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X7 | XP_047275089.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X7 | XM_047419133.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X7 | XP_047275089.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X8 | XM_047419134.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X8 | XP_047275090.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X8 | XM_047419134.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X8 | XP_047275090.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X8 | XM_047419134.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X8 | XP_047275090.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X9 | XM_047419135.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X9 | XP_047275091.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X9 | XM_047419135.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X9 | XP_047275091.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X9 | XM_047419135.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X9 | XP_047275091.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X10 | XM_047419136.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X10 | XP_047275092.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X10 | XM_047419136.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X10 | XP_047275092.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X10 | XM_047419136.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X10 | XP_047275092.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X11 | XM_047419137.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X11 | XP_047275093.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X11 | XM_047419137.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X11 | XP_047275093.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X11 | XM_047419137.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X11 | XP_047275093.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X12 | XM_047419138.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X12 | XP_047275094.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X12 | XM_047419138.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X12 | XP_047275094.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X12 | XM_047419138.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X12 | XP_047275094.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X13 | XM_047419140.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X13 | XP_047275096.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X13 | XM_047419140.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X13 | XP_047275096.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X13 | XM_047419140.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X13 | XP_047275096.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X14 | XM_047419141.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X14 | XP_047275097.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X14 | XM_047419141.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X14 | XP_047275097.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X14 | XM_047419141.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X14 | XP_047275097.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X15 | XM_017011106.3:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X15 | XP_016866595.2:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X15 | XM_017011106.3:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X15 | XP_016866595.2:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X15 | XM_017011106.3:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X15 | XP_016866595.2:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X16 | XM_047419142.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X16 | XP_047275098.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X16 | XM_047419142.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X16 | XP_047275098.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X16 | XM_047419142.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X16 | XP_047275098.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X17 | XM_017011107.3:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X17 | XP_016866596.2:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X17 | XM_017011107.3:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X17 | XP_016866596.2:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X17 | XM_017011107.3:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X17 | XP_016866596.2:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X18 | XM_047419143.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X18 | XP_047275099.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X18 | XM_047419143.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X18 | XP_047275099.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X18 | XM_047419143.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X18 | XP_047275099.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X19 | XM_047419144.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X19 | XP_047275100.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X19 | XM_047419144.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X19 | XP_047275100.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X19 | XM_047419144.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X19 | XP_047275100.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X20 | XM_047419145.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X20 | XP_047275101.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X20 | XM_047419145.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X20 | XP_047275101.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X20 | XM_047419145.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X20 | XP_047275101.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X21 | XM_047419146.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X21 | XP_047275102.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X21 | XM_047419146.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X21 | XP_047275102.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X21 | XM_047419146.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X21 | XP_047275102.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X22 | XM_047419147.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X22 | XP_047275103.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X22 | XM_047419147.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X22 | XP_047275103.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X22 | XM_047419147.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X22 | XP_047275103.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X23 | XM_047419148.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X23 | XP_047275104.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X23 | XM_047419148.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X23 | XP_047275104.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X23 | XM_047419148.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X23 | XP_047275104.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X24 | XM_047419149.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X24 | XP_047275105.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X24 | XM_047419149.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X24 | XP_047275105.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X24 | XM_047419149.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X24 | XP_047275105.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X25 | XM_047419150.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X25 | XP_047275106.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X25 | XM_047419150.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X25 | XP_047275106.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X25 | XM_047419150.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X25 | XP_047275106.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X26 | XM_047419151.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X26 | XP_047275107.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X26 | XM_047419151.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X26 | XP_047275107.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X26 | XM_047419151.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X26 | XP_047275107.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X27 | XM_047419152.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X27 | XP_047275108.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X27 | XM_047419152.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X27 | XP_047275108.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X27 | XM_047419152.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X27 | XP_047275108.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
| ARID1B transcript variant X30 | XM_047419155.1:c.1337C>A | A [GCG] > E [GAG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X30 | XP_047275111.1:p.Ala446Glu | A (Ala) > E (Glu) | Missense Variant |
| ARID1B transcript variant X30 | XM_047419155.1:c.1337C>G | A [GCG] > G [GGG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X30 | XP_047275111.1:p.Ala446Gly | A (Ala) > G (Gly) | Missense Variant |
| ARID1B transcript variant X30 | XM_047419155.1:c.1337C>T | A [GCG] > V [GTG] | Coding Sequence Variant |
| AT-rich interactive domain-containing protein 1B isoform X30 | XP_047275111.1:p.Ala446Val | A (Ala) > V (Val) | Missense Variant |
Gene: LOC115308161, uncharacterized LOC115308161
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC115308161 transcript | NR_163974.1:n. | N/A | Upstream Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
579255
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000717823.1 | History of neurodevelopmental disorder | Likely-Benign |
| RCV001255069.1 | Seizure | Uncertain-Significance |
| RCV001556601.5 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.156779017= | NC_000006.12:g.156779017C>A | NC_000006.12:g.156779017C>G | NC_000006.12:g.156779017C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.157100151= | NC_000006.11:g.157100151C>A | NC_000006.11:g.157100151C>G | NC_000006.11:g.157100151C>T |
| ARID1B RefSeqGene | NG_066624.1:g.7992= | NG_066624.1:g.7992C>A | NG_066624.1:g.7992C>G | NG_066624.1:g.7992C>T |
| ARID1B transcript variant 1 | NM_017519.3:c.1337= | NM_017519.3:c.1337C>A | NM_017519.3:c.1337C>G | NM_017519.3:c.1337C>T |
| ARID1B transcript variant 1 | NM_017519.2:c.1088= | NM_017519.2:c.1088C>A | NM_017519.2:c.1088C>G | NM_017519.2:c.1088C>T |
| ARID1B transcript variant 5 | NM_001371656.1:c.1337= | NM_001371656.1:c.1337C>A | NM_001371656.1:c.1337C>G | NM_001371656.1:c.1337C>T |
| ARID1B transcript variant 3 | NM_001374828.1:c.1337= | NM_001374828.1:c.1337C>A | NM_001374828.1:c.1337C>G | NM_001374828.1:c.1337C>T |
| ARID1B transcript variant 2 | NM_001374820.1:c.1337= | NM_001374820.1:c.1337C>A | NM_001374820.1:c.1337C>G | NM_001374820.1:c.1337C>T |
| ARID1B transcript variant X1 | XM_011535984.3:c.1337= | XM_011535984.3:c.1337C>A | XM_011535984.3:c.1337C>G | XM_011535984.3:c.1337C>T |
| ARID1B transcript variant X1 | XM_011535984.2:c.1088= | XM_011535984.2:c.1088C>A | XM_011535984.2:c.1088C>G | XM_011535984.2:c.1088C>T |
| ARID1B transcript variant X2 | XM_011535984.1:c.-44= | XM_011535984.1:c.-44C>A | XM_011535984.1:c.-44C>G | XM_011535984.1:c.-44C>T |
| ARID1B transcript variant X6 | XM_017011105.3:c.1337= | XM_017011105.3:c.1337C>A | XM_017011105.3:c.1337C>G | XM_017011105.3:c.1337C>T |
| ARID1B transcript variant X4 | XM_017011105.2:c.1088= | XM_017011105.2:c.1088C>A | XM_017011105.2:c.1088C>G | XM_017011105.2:c.1088C>T |
| ARID1B transcript variant X4 | XM_017011105.1:c.1088= | XM_017011105.1:c.1088C>A | XM_017011105.1:c.1088C>G | XM_017011105.1:c.1088C>T |
| ARID1B transcript variant X15 | XM_017011106.3:c.1337= | XM_017011106.3:c.1337C>A | XM_017011106.3:c.1337C>G | XM_017011106.3:c.1337C>T |
| ARID1B transcript variant X5 | XM_017011106.2:c.1088= | XM_017011106.2:c.1088C>A | XM_017011106.2:c.1088C>G | XM_017011106.2:c.1088C>T |
| ARID1B transcript variant X6 | XM_017011106.1:c.1088= | XM_017011106.1:c.1088C>A | XM_017011106.1:c.1088C>G | XM_017011106.1:c.1088C>T |
| ARID1B transcript variant X17 | XM_017011107.3:c.1337= | XM_017011107.3:c.1337C>A | XM_017011107.3:c.1337C>G | XM_017011107.3:c.1337C>T |
| ARID1B transcript variant X6 | XM_017011107.2:c.1088= | XM_017011107.2:c.1088C>A | XM_017011107.2:c.1088C>G | XM_017011107.2:c.1088C>T |
| ARID1B transcript variant X7 | XM_017011107.1:c.1088= | XM_017011107.1:c.1088C>A | XM_017011107.1:c.1088C>G | XM_017011107.1:c.1088C>T |
| ARID1B transcript variant 2 | NM_020732.3:c.1088= | NM_020732.3:c.1088C>A | NM_020732.3:c.1088C>G | NM_020732.3:c.1088C>T |
| ARID1B transcript variant X5 | XM_017011104.2:c.1337= | XM_017011104.2:c.1337C>A | XM_017011104.2:c.1337C>G | XM_017011104.2:c.1337C>T |
| ARID1B transcript variant X3 | XM_017011104.1:c.1088= | XM_017011104.1:c.1088C>A | XM_017011104.1:c.1088C>G | XM_017011104.1:c.1088C>T |
| ARID1B transcript variant 3 | NM_175863.2:c.914= | NM_175863.2:c.914C>A | NM_175863.2:c.914C>G | NM_175863.2:c.914C>T |
| ARID1B transcript variant X2 | XM_047419130.1:c.1337= | XM_047419130.1:c.1337C>A | XM_047419130.1:c.1337C>G | XM_047419130.1:c.1337C>T |
| ARID1B transcript variant X3 | XM_047419131.1:c.1337= | XM_047419131.1:c.1337C>A | XM_047419131.1:c.1337C>G | XM_047419131.1:c.1337C>T |
| ARID1B transcript variant X4 | XM_047419132.1:c.1337= | XM_047419132.1:c.1337C>A | XM_047419132.1:c.1337C>G | XM_047419132.1:c.1337C>T |
| ARID1B transcript variant X7 | XM_047419133.1:c.1337= | XM_047419133.1:c.1337C>A | XM_047419133.1:c.1337C>G | XM_047419133.1:c.1337C>T |
| ARID1B transcript variant X8 | XM_047419134.1:c.1337= | XM_047419134.1:c.1337C>A | XM_047419134.1:c.1337C>G | XM_047419134.1:c.1337C>T |
| ARID1B transcript variant X9 | XM_047419135.1:c.1337= | XM_047419135.1:c.1337C>A | XM_047419135.1:c.1337C>G | XM_047419135.1:c.1337C>T |
| ARID1B transcript variant X10 | XM_047419136.1:c.1337= | XM_047419136.1:c.1337C>A | XM_047419136.1:c.1337C>G | XM_047419136.1:c.1337C>T |
| ARID1B transcript variant X11 | XM_047419137.1:c.1337= | XM_047419137.1:c.1337C>A | XM_047419137.1:c.1337C>G | XM_047419137.1:c.1337C>T |
| ARID1B transcript variant X12 | XM_047419138.1:c.1337= | XM_047419138.1:c.1337C>A | XM_047419138.1:c.1337C>G | XM_047419138.1:c.1337C>T |
| ARID1B transcript variant X13 | XM_047419140.1:c.1337= | XM_047419140.1:c.1337C>A | XM_047419140.1:c.1337C>G | XM_047419140.1:c.1337C>T |
| ARID1B transcript variant X14 | XM_047419141.1:c.1337= | XM_047419141.1:c.1337C>A | XM_047419141.1:c.1337C>G | XM_047419141.1:c.1337C>T |
| ARID1B transcript variant X16 | XM_047419142.1:c.1337= | XM_047419142.1:c.1337C>A | XM_047419142.1:c.1337C>G | XM_047419142.1:c.1337C>T |
| ARID1B transcript variant X18 | XM_047419143.1:c.1337= | XM_047419143.1:c.1337C>A | XM_047419143.1:c.1337C>G | XM_047419143.1:c.1337C>T |
| ARID1B transcript variant X19 | XM_047419144.1:c.1337= | XM_047419144.1:c.1337C>A | XM_047419144.1:c.1337C>G | XM_047419144.1:c.1337C>T |
| ARID1B transcript variant X20 | XM_047419145.1:c.1337= | XM_047419145.1:c.1337C>A | XM_047419145.1:c.1337C>G | XM_047419145.1:c.1337C>T |
| ARID1B transcript variant X21 | XM_047419146.1:c.1337= | XM_047419146.1:c.1337C>A | XM_047419146.1:c.1337C>G | XM_047419146.1:c.1337C>T |
| ARID1B transcript variant X22 | XM_047419147.1:c.1337= | XM_047419147.1:c.1337C>A | XM_047419147.1:c.1337C>G | XM_047419147.1:c.1337C>T |
| ARID1B transcript variant X23 | XM_047419148.1:c.1337= | XM_047419148.1:c.1337C>A | XM_047419148.1:c.1337C>G | XM_047419148.1:c.1337C>T |
| ARID1B transcript variant X24 | XM_047419149.1:c.1337= | XM_047419149.1:c.1337C>A | XM_047419149.1:c.1337C>G | XM_047419149.1:c.1337C>T |
| ARID1B transcript variant X25 | XM_047419150.1:c.1337= | XM_047419150.1:c.1337C>A | XM_047419150.1:c.1337C>G | XM_047419150.1:c.1337C>T |
| ARID1B transcript variant X26 | XM_047419151.1:c.1337= | XM_047419151.1:c.1337C>A | XM_047419151.1:c.1337C>G | XM_047419151.1:c.1337C>T |
| ARID1B transcript variant X27 | XM_047419152.1:c.1337= | XM_047419152.1:c.1337C>A | XM_047419152.1:c.1337C>G | XM_047419152.1:c.1337C>T |
| ARID1B transcript variant 3 | NM_001346813.1:c.1088= | NM_001346813.1:c.1088C>A | NM_001346813.1:c.1088C>G | NM_001346813.1:c.1088C>T |
| ELD/OSA1 transcript | NM_175863.1:c.251= | NM_175863.1:c.251C>A | NM_175863.1:c.251C>G | NM_175863.1:c.251C>T |
| ARID1B transcript variant X30 | XM_047419155.1:c.1337= | XM_047419155.1:c.1337C>A | XM_047419155.1:c.1337C>G | XM_047419155.1:c.1337C>T |
| AT-rich interactive domain-containing protein 1B isoform 1 | NP_059989.3:p.Ala446= | NP_059989.3:p.Ala446Glu | NP_059989.3:p.Ala446Gly | NP_059989.3:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001358585.1:p.Ala446= | NP_001358585.1:p.Ala446Glu | NP_001358585.1:p.Ala446Gly | NP_001358585.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform 3 | NP_001361757.1:p.Ala446= | NP_001361757.1:p.Ala446Glu | NP_001361757.1:p.Ala446Gly | NP_001361757.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_001361749.1:p.Ala446= | NP_001361749.1:p.Ala446Glu | NP_001361749.1:p.Ala446Gly | NP_001361749.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X1 | XP_011534286.3:p.Ala446= | XP_011534286.3:p.Ala446Glu | XP_011534286.3:p.Ala446Gly | XP_011534286.3:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X6 | XP_016866594.2:p.Ala446= | XP_016866594.2:p.Ala446Glu | XP_016866594.2:p.Ala446Gly | XP_016866594.2:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X15 | XP_016866595.2:p.Ala446= | XP_016866595.2:p.Ala446Glu | XP_016866595.2:p.Ala446Gly | XP_016866595.2:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X17 | XP_016866596.2:p.Ala446= | XP_016866596.2:p.Ala446Glu | XP_016866596.2:p.Ala446Gly | XP_016866596.2:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X5 | XP_016866593.2:p.Ala446= | XP_016866593.2:p.Ala446Glu | XP_016866593.2:p.Ala446Gly | XP_016866593.2:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X2 | XP_047275086.1:p.Ala446= | XP_047275086.1:p.Ala446Glu | XP_047275086.1:p.Ala446Gly | XP_047275086.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X3 | XP_047275087.1:p.Ala446= | XP_047275087.1:p.Ala446Glu | XP_047275087.1:p.Ala446Gly | XP_047275087.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X4 | XP_047275088.1:p.Ala446= | XP_047275088.1:p.Ala446Glu | XP_047275088.1:p.Ala446Gly | XP_047275088.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X7 | XP_047275089.1:p.Ala446= | XP_047275089.1:p.Ala446Glu | XP_047275089.1:p.Ala446Gly | XP_047275089.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X8 | XP_047275090.1:p.Ala446= | XP_047275090.1:p.Ala446Glu | XP_047275090.1:p.Ala446Gly | XP_047275090.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X9 | XP_047275091.1:p.Ala446= | XP_047275091.1:p.Ala446Glu | XP_047275091.1:p.Ala446Gly | XP_047275091.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X10 | XP_047275092.1:p.Ala446= | XP_047275092.1:p.Ala446Glu | XP_047275092.1:p.Ala446Gly | XP_047275092.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X11 | XP_047275093.1:p.Ala446= | XP_047275093.1:p.Ala446Glu | XP_047275093.1:p.Ala446Gly | XP_047275093.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X12 | XP_047275094.1:p.Ala446= | XP_047275094.1:p.Ala446Glu | XP_047275094.1:p.Ala446Gly | XP_047275094.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X13 | XP_047275096.1:p.Ala446= | XP_047275096.1:p.Ala446Glu | XP_047275096.1:p.Ala446Gly | XP_047275096.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X14 | XP_047275097.1:p.Ala446= | XP_047275097.1:p.Ala446Glu | XP_047275097.1:p.Ala446Gly | XP_047275097.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X16 | XP_047275098.1:p.Ala446= | XP_047275098.1:p.Ala446Glu | XP_047275098.1:p.Ala446Gly | XP_047275098.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X18 | XP_047275099.1:p.Ala446= | XP_047275099.1:p.Ala446Glu | XP_047275099.1:p.Ala446Gly | XP_047275099.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X19 | XP_047275100.1:p.Ala446= | XP_047275100.1:p.Ala446Glu | XP_047275100.1:p.Ala446Gly | XP_047275100.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X20 | XP_047275101.1:p.Ala446= | XP_047275101.1:p.Ala446Glu | XP_047275101.1:p.Ala446Gly | XP_047275101.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X21 | XP_047275102.1:p.Ala446= | XP_047275102.1:p.Ala446Glu | XP_047275102.1:p.Ala446Gly | XP_047275102.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X22 | XP_047275103.1:p.Ala446= | XP_047275103.1:p.Ala446Glu | XP_047275103.1:p.Ala446Gly | XP_047275103.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X23 | XP_047275104.1:p.Ala446= | XP_047275104.1:p.Ala446Glu | XP_047275104.1:p.Ala446Gly | XP_047275104.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X24 | XP_047275105.1:p.Ala446= | XP_047275105.1:p.Ala446Glu | XP_047275105.1:p.Ala446Gly | XP_047275105.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X25 | XP_047275106.1:p.Ala446= | XP_047275106.1:p.Ala446Glu | XP_047275106.1:p.Ala446Gly | XP_047275106.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X26 | XP_047275107.1:p.Ala446= | XP_047275107.1:p.Ala446Glu | XP_047275107.1:p.Ala446Gly | XP_047275107.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X27 | XP_047275108.1:p.Ala446= | XP_047275108.1:p.Ala446Glu | XP_047275108.1:p.Ala446Gly | XP_047275108.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform X30 | XP_047275111.1:p.Ala446= | XP_047275111.1:p.Ala446Glu | XP_047275111.1:p.Ala446Gly | XP_047275111.1:p.Ala446Val |
| AT-rich interactive domain-containing protein 1B isoform 1 | NP_059989.2:p.Ala363= | NP_059989.2:p.Ala363Glu | NP_059989.2:p.Ala363Gly | NP_059989.2:p.Ala363Val |
| AT-rich interactive domain-containing protein 1B isoform 2 | NP_065783.3:p.Ala363= | NP_065783.3:p.Ala363Glu | NP_065783.3:p.Ala363Gly | NP_065783.3:p.Ala363Val |
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#.
13 SubSNP,
6 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1688559171 | Apr 01, 2015 (144) |
| 2 | TMC_SNPDB | ss1997194625 | Jul 19, 2016 (147) |
| 3 | GNOMAD | ss2736159619 | Nov 08, 2017 (151) |
| 4 | GNOMAD | ss2747732778 | Nov 08, 2017 (151) |
| 5 | GNOMAD | ss2847291718 | Nov 08, 2017 (151) |
| 6 | SWEGEN | ss3000254939 | Nov 08, 2017 (151) |
| 7 | OMUKHERJEE_ADBS | ss3646345822 | Oct 12, 2018 (152) |
| 8 | SGDP_PRJ | ss3866114628 | Apr 26, 2020 (154) |
| 9 | TOPMED | ss4728428418 | Apr 26, 2021 (155) |
| 10 | 1000G_HIGH_COVERAGE | ss5271025561 | Oct 13, 2022 (156) |
| 11 | EVA | ss5370238987 | Oct 13, 2022 (156) |
| 12 | 1000G_HIGH_COVERAGE | ss5558304447 | Oct 13, 2022 (156) |
| 13 | EVA | ss5935838390 | Oct 13, 2022 (156) |
| 14 | 1000Genomes_30x | NC_000006.12 - 156779017 | Oct 13, 2022 (156) |
| 15 | ExAC | NC_000006.11 - 157100151 | Oct 12, 2018 (152) |
| 16 | gnomAD - Genomes | NC_000006.12 - 156779017 | Apr 26, 2021 (155) |
| 17 | SGDP_PRJ | NC_000006.11 - 157100151 | Apr 26, 2020 (154) |
| 18 | TopMed | NC_000006.12 - 156779017 | Apr 26, 2021 (155) |
| 19 | ALFA | NC_000006.12 - 156779017 | Apr 26, 2021 (155) |
| 20 | ClinVar | RCV000717823.1 | Jul 13, 2019 (153) |
| 21 | ClinVar | RCV001255069.1 | Apr 26, 2021 (155) |
| 22 | ClinVar | RCV001556601.5 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5935838390 | NC_000006.11:157100150:C:A | NC_000006.12:156779016:C:A | |
| ss5935838390 | NC_000006.11:157100150:C:G | NC_000006.12:156779016:C:G | |
| 8611201, 18131608, ss1688559171, ss1997194625, ss2736159619, ss2747732778, ss2847291718, ss3000254939, ss3646345822, ss3866114628, ss5370238987, ss5935838390 | NC_000006.11:157100150:C:T | NC_000006.12:156779016:C:T | (self) |
| RCV000717823.1, RCV001255069.1, RCV001556601.5, 45830382, 246655662, 565805976, 5207422397, ss4728428418, ss5271025561, ss5558304447 | NC_000006.12:156779016:C:T | NC_000006.12:156779016:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs748273011
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.