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.
rs1485284962
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:98798946 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.00000 (0/11862, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ANKS1B : Synonymous Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 11862 | A=1.00000 | G=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 7618 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2816 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 108 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2708 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 470 | A=1.000 | G=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 | A=0.999996 | G=0.000004 |
| Allele Frequency Aggregator | Total | Global | 11862 | A=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 7618 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2816 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 470 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | A=1.00 | G=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.98798946A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.99192724A>G |
| ANKS1B RefSeqGene | NG_029860.2:g.1190709T>C |
Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ANKS1B transcript variant 1 | NM_152788.4:c.3255T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a | NP_690001.3:p.Cys1085= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 15 | NM_001352187.1:c.3255T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform o | NP_001339116.1:p.Cys1085= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 14 | NM_001352188.1:c.3327T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform n | NP_001339117.1:p.Cys1109= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 25 | NM_001352190.1:c.915T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform qq | NP_001339119.1:p.Cys305= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 24 | NM_001352189.1:c.912T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform v | NP_001339118.1:p.Cys304= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 16 | NM_001352185.1:c.3255T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform p | NP_001339114.1:p.Cys1085= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 9 | NM_001204070.2:c.753T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform i | NP_001190999.1:p.Cys251= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 42 | NM_001352225.2:c.198T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform jj | NP_001339154.1:p.Cys66= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 48 | NM_001352224.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339153.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 11 | NM_001204080.2:c.273T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k | NP_001191009.1:p.Cys91= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 43 | NM_001352210.2:c.198T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform kk | NP_001339139.1:p.Cys66= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 28 | NM_001352193.2:c.762T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform y | NP_001339122.1:p.Cys254= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 31 | NM_001352203.2:c.720T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform bb | NP_001339132.1:p.Cys240= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 8 | NM_001204069.2:c.825T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h | NP_001190998.1:p.Cys275= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 46 | NM_001352218.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339147.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 17 | NM_001352198.2:c.1008T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform q | NP_001339127.1:p.Cys336= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 47 | NM_001352220.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339149.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 18 | NM_001352205.2:c.1008T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform oo | NP_001339134.1:p.Cys336= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 5 | NM_001204066.2:c.549T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform e | NP_001190995.1:p.Cys183= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 22 | NM_001352200.2:c.1008T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform u | NP_001339129.1:p.Cys336= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 35 | NM_001352219.2:c.348T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ff | NP_001339148.1:p.Cys116= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 49 | NM_001352217.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform mm | NP_001339146.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 37 | NM_001352222.2:c.345T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg | NP_001339151.1:p.Cys115= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 21 | NM_001352204.2:c.933T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform t | NP_001339133.1:p.Cys311= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 4 | NM_001204065.2:c.345T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d | NP_001190994.1:p.Cys115= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 44 | NM_001352211.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339140.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 7 | NM_001204068.2:c.933T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform g | NP_001190997.1:p.Cys311= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 10 | NM_001204079.2:c.348T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform j | NP_001191008.1:p.Cys116= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 36 | NM_001352208.2:c.345T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg | NP_001339137.1:p.Cys115= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 27 | NM_001352206.2:c.825T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform x | NP_001339135.1:p.Cys275= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 45 | NM_001352212.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339141.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 34 | NM_001352191.2:c.582T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ee | NP_001339120.1:p.Cys194= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 29 | NM_001352192.2:c.762T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform z | NP_001339121.1:p.Cys254= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 40 | NM_001352209.2:c.273T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii | NP_001339138.1:p.Cys91= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 32 | NM_001352194.2:c.645T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform cc | NP_001339123.1:p.Cys215= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 41 | NM_001352221.2:c.273T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii | NP_001339150.1:p.Cys91= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 2 | NM_181670.4:c.1005T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform b | NP_858056.2:p.Cys335= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 33 | NM_001352201.2:c.645T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform dd | NP_001339130.1:p.Cys215= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 23 | NM_001352202.2:c.933T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform pp | NP_001339131.1:p.Cys311= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 19 | NM_001352195.2:c.1005T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform r | NP_001339124.1:p.Cys335= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 30 | NM_001352199.2:c.753T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform aa | NP_001339128.1:p.Cys251= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 39 | NM_001352207.2:c.273T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k | NP_001339136.1:p.Cys91= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 12 | NM_001204081.2:c.273T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l | NP_001191010.1:p.Cys91= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 52 | NM_001352216.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339145.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 26 | NM_001352197.2:c.933T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w | NP_001339126.1:p.Cys311= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 51 | NM_001352214.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339143.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 50 | NM_001352213.2:c.48T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339142.1:p.Cys16= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 3 | NM_020140.4:c.753T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c | NP_064525.1:p.Cys251= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 20 | NM_001352196.2:c.1005T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s | NP_001339125.1:p.Cys335= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 38 | NM_001352223.2:c.348T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh | NP_001339152.1:p.Cys116= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 6 | NM_001204067.2:c.660T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform f | NP_001190996.1:p.Cys220= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant 13 | NM_001352186.2:c.3330T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform m | NP_001339115.1:p.Cys1110= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X12 | XM_047429164.1:c. | N/A | Genic Downstream Transcript Variant |
| ANKS1B transcript variant X1 | XM_006719504.5:c.3327T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X1 | XP_006719567.1:p.Cys1109= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X2 | XM_006719505.5:c.3330T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X2 | XP_006719568.1:p.Cys1110= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X3 | XM_017019652.3:c.3318T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X3 | XP_016875141.1:p.Cys1106= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X4 | XM_006719507.5:c.3330T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X4 | XP_006719570.1:p.Cys1110= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X5 | XM_006719508.5:c.3330T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X5 | XP_006719571.1:p.Cys1110= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X6 | XM_005269029.6:c.3243T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X6 | XP_005269086.1:p.Cys1081= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X7 | XM_011538571.4:c.3228T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X7 | XP_011536873.1:p.Cys1076= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X8 | XM_006719510.5:c.3255T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X8 | XP_006719573.1:p.Cys1085= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X9 | XM_006719512.5:c.3075T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X9 | XP_006719575.1:p.Cys1025= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X10 | XM_006719513.5:c.3075T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X10 | XP_006719576.1:p.Cys1025= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X11 | XM_006719514.5:c.3063T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X11 | XP_006719577.1:p.Cys1021= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X13 | XM_024449060.2:c.2070T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_024304828.1:p.Cys690= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X14 | XM_024449061.2:c.2226T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X14 | XP_024304829.1:p.Cys742= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X15 | XM_047429165.1:c.2070T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285121.1:p.Cys690= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X16 | XM_047429166.1:c.2070T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285122.1:p.Cys690= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X17 | XM_047429167.1:c.2070T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285123.1:p.Cys690= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X18 | XM_024449065.2:c.915T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X15 | XP_024304833.1:p.Cys305= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X19 | XM_047429168.1:c.903T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X16 | XP_047285124.1:p.Cys301= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X20 | XM_024449069.2:c.837T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X17 | XP_024304837.1:p.Cys279= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X21 | XM_047429169.1:c.837T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X17 | XP_047285125.1:p.Cys279= | C (Cys) > C (Cys) | Synonymous Variant |
| ANKS1B transcript variant X22 | XM_047429170.1:c.345T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X18 | XP_047285126.1:p.Cys115= | C (Cys) > C (Cys) | Synonymous Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | G |
|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.98798946= | NC_000012.12:g.98798946A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.99192724= | NC_000012.11:g.99192724A>G |
| ANKS1B RefSeqGene | NG_029860.2:g.1190709= | NG_029860.2:g.1190709T>C |
| ANKS1B transcript variant 1 | NM_152788.4:c.3255= | NM_152788.4:c.3255T>C |
| ANKS1B transcript variant 2 | NM_181670.4:c.1005= | NM_181670.4:c.1005T>C |
| ANKS1B transcript variant 2 | NM_181670.3:c.1005= | NM_181670.3:c.1005T>C |
| ANKS1B transcript variant 3 | NM_020140.4:c.753= | NM_020140.4:c.753T>C |
| ANKS1B transcript variant 3 | NM_020140.3:c.753= | NM_020140.3:c.753T>C |
| ANKS1B transcript variant 13 | NM_001352186.2:c.3330= | NM_001352186.2:c.3330T>C |
| ANKS1B transcript variant 13 | NM_001352186.1:c.3330= | NM_001352186.1:c.3330T>C |
| ANKS1B transcript variant 22 | NM_001352200.2:c.1008= | NM_001352200.2:c.1008T>C |
| ANKS1B transcript variant 22 | NM_001352200.1:c.1008= | NM_001352200.1:c.1008T>C |
| ANKS1B transcript variant 17 | NM_001352198.2:c.1008= | NM_001352198.2:c.1008T>C |
| ANKS1B transcript variant 17 | NM_001352198.1:c.1008= | NM_001352198.1:c.1008T>C |
| ANKS1B transcript variant 18 | NM_001352205.2:c.1008= | NM_001352205.2:c.1008T>C |
| ANKS1B transcript variant 18 | NM_001352205.1:c.1008= | NM_001352205.1:c.1008T>C |
| ANKS1B transcript variant 19 | NM_001352195.2:c.1005= | NM_001352195.2:c.1005T>C |
| ANKS1B transcript variant 19 | NM_001352195.1:c.1005= | NM_001352195.1:c.1005T>C |
| ANKS1B transcript variant 7 | NM_001204068.2:c.933= | NM_001204068.2:c.933T>C |
| ANKS1B transcript variant 7 | NM_001204068.1:c.933= | NM_001204068.1:c.933T>C |
| ANKS1B transcript variant 21 | NM_001352204.2:c.933= | NM_001352204.2:c.933T>C |
| ANKS1B transcript variant 21 | NM_001352204.1:c.933= | NM_001352204.1:c.933T>C |
| ANKS1B transcript variant 23 | NM_001352202.2:c.933= | NM_001352202.2:c.933T>C |
| ANKS1B transcript variant 23 | NM_001352202.1:c.933= | NM_001352202.1:c.933T>C |
| ANKS1B transcript variant 8 | NM_001204069.2:c.825= | NM_001204069.2:c.825T>C |
| ANKS1B transcript variant 8 | NM_001204069.1:c.825= | NM_001204069.1:c.825T>C |
| ANKS1B transcript variant 27 | NM_001352206.2:c.825= | NM_001352206.2:c.825T>C |
| ANKS1B transcript variant 27 | NM_001352206.1:c.825= | NM_001352206.1:c.825T>C |
| ANKS1B transcript variant 9 | NM_001204070.2:c.753= | NM_001204070.2:c.753T>C |
| ANKS1B transcript variant 9 | NM_001204070.1:c.753= | NM_001204070.1:c.753T>C |
| ANKS1B transcript variant 30 | NM_001352199.2:c.753= | NM_001352199.2:c.753T>C |
| ANKS1B transcript variant 30 | NM_001352199.1:c.753= | NM_001352199.1:c.753T>C |
| ANKS1B transcript variant 31 | NM_001352203.2:c.720= | NM_001352203.2:c.720T>C |
| ANKS1B transcript variant 31 | NM_001352203.1:c.720= | NM_001352203.1:c.720T>C |
| ANKS1B transcript variant 28 | NM_001352193.2:c.762= | NM_001352193.2:c.762T>C |
| ANKS1B transcript variant 28 | NM_001352193.1:c.762= | NM_001352193.1:c.762T>C |
| ANKS1B transcript variant 29 | NM_001352192.2:c.762= | NM_001352192.2:c.762T>C |
| ANKS1B transcript variant 29 | NM_001352192.1:c.762= | NM_001352192.1:c.762T>C |
| ANKS1B transcript variant 32 | NM_001352194.2:c.645= | NM_001352194.2:c.645T>C |
| ANKS1B transcript variant 32 | NM_001352194.1:c.645= | NM_001352194.1:c.645T>C |
| ANKS1B transcript variant 33 | NM_001352201.2:c.645= | NM_001352201.2:c.645T>C |
| ANKS1B transcript variant 33 | NM_001352201.1:c.645= | NM_001352201.1:c.645T>C |
| ANKS1B transcript variant 34 | NM_001352191.2:c.582= | NM_001352191.2:c.582T>C |
| ANKS1B transcript variant 34 | NM_001352191.1:c.582= | NM_001352191.1:c.582T>C |
| ANKS1B transcript variant 6 | NM_001204067.2:c.660= | NM_001204067.2:c.660T>C |
| ANKS1B transcript variant 6 | NM_001204067.1:c.660= | NM_001204067.1:c.660T>C |
| ANKS1B transcript variant 5 | NM_001204066.2:c.549= | NM_001204066.2:c.549T>C |
| ANKS1B transcript variant 5 | NM_001204066.1:c.549= | NM_001204066.1:c.549T>C |
| ANKS1B transcript variant 36 | NM_001352208.2:c.345= | NM_001352208.2:c.345T>C |
| ANKS1B transcript variant 36 | NM_001352208.1:c.345= | NM_001352208.1:c.345T>C |
| ANKS1B transcript variant 35 | NM_001352219.2:c.348= | NM_001352219.2:c.348T>C |
| ANKS1B transcript variant 35 | NM_001352219.1:c.348= | NM_001352219.1:c.348T>C |
| ANKS1B transcript variant 10 | NM_001204079.2:c.348= | NM_001204079.2:c.348T>C |
| ANKS1B transcript variant 10 | NM_001204079.1:c.348= | NM_001204079.1:c.348T>C |
| ANKS1B transcript variant 4 | NM_001204065.2:c.345= | NM_001204065.2:c.345T>C |
| ANKS1B transcript variant 4 | NM_001204065.1:c.345= | NM_001204065.1:c.345T>C |
| ANKS1B transcript variant 37 | NM_001352222.2:c.345= | NM_001352222.2:c.345T>C |
| ANKS1B transcript variant 37 | NM_001352222.1:c.345= | NM_001352222.1:c.345T>C |
| ANKS1B transcript variant 39 | NM_001352207.2:c.273= | NM_001352207.2:c.273T>C |
| ANKS1B transcript variant 39 | NM_001352207.1:c.273= | NM_001352207.1:c.273T>C |
| ANKS1B transcript variant 40 | NM_001352209.2:c.273= | NM_001352209.2:c.273T>C |
| ANKS1B transcript variant 40 | NM_001352209.1:c.273= | NM_001352209.1:c.273T>C |
| ANKS1B transcript variant 11 | NM_001204080.2:c.273= | NM_001204080.2:c.273T>C |
| ANKS1B transcript variant 11 | NM_001204080.1:c.273= | NM_001204080.1:c.273T>C |
| ANKS1B transcript variant 41 | NM_001352221.2:c.273= | NM_001352221.2:c.273T>C |
| ANKS1B transcript variant 41 | NM_001352221.1:c.273= | NM_001352221.1:c.273T>C |
| ANKS1B transcript variant 43 | NM_001352210.2:c.198= | NM_001352210.2:c.198T>C |
| ANKS1B transcript variant 43 | NM_001352210.1:c.198= | NM_001352210.1:c.198T>C |
| ANKS1B transcript variant 42 | NM_001352225.2:c.198= | NM_001352225.2:c.198T>C |
| ANKS1B transcript variant 42 | NM_001352225.1:c.198= | NM_001352225.1:c.198T>C |
| ANKS1B transcript variant 46 | NM_001352218.2:c.48= | NM_001352218.2:c.48T>C |
| ANKS1B transcript variant 46 | NM_001352218.1:c.48= | NM_001352218.1:c.48T>C |
| ANKS1B transcript variant 45 | NM_001352212.2:c.48= | NM_001352212.2:c.48T>C |
| ANKS1B transcript variant 45 | NM_001352212.1:c.48= | NM_001352212.1:c.48T>C |
| ANKS1B transcript variant 47 | NM_001352220.2:c.48= | NM_001352220.2:c.48T>C |
| ANKS1B transcript variant 47 | NM_001352220.1:c.48= | NM_001352220.1:c.48T>C |
| ANKS1B transcript variant 49 | NM_001352217.2:c.48= | NM_001352217.2:c.48T>C |
| ANKS1B transcript variant 49 | NM_001352217.1:c.48= | NM_001352217.1:c.48T>C |
| ANKS1B transcript variant 44 | NM_001352211.2:c.48= | NM_001352211.2:c.48T>C |
| ANKS1B transcript variant 44 | NM_001352211.1:c.48= | NM_001352211.1:c.48T>C |
| ANKS1B transcript variant 48 | NM_001352224.2:c.48= | NM_001352224.2:c.48T>C |
| ANKS1B transcript variant 48 | NM_001352224.1:c.48= | NM_001352224.1:c.48T>C |
| ANKS1B transcript variant 20 | NM_001352196.2:c.1005= | NM_001352196.2:c.1005T>C |
| ANKS1B transcript variant 20 | NM_001352196.1:c.1005= | NM_001352196.1:c.1005T>C |
| ANKS1B transcript variant 26 | NM_001352197.2:c.933= | NM_001352197.2:c.933T>C |
| ANKS1B transcript variant 26 | NM_001352197.1:c.933= | NM_001352197.1:c.933T>C |
| ANKS1B transcript variant 38 | NM_001352223.2:c.348= | NM_001352223.2:c.348T>C |
| ANKS1B transcript variant 38 | NM_001352223.1:c.348= | NM_001352223.1:c.348T>C |
| ANKS1B transcript variant 12 | NM_001204081.2:c.273= | NM_001204081.2:c.273T>C |
| ANKS1B transcript variant 12 | NM_001204081.1:c.273= | NM_001204081.1:c.273T>C |
| ANKS1B transcript variant 51 | NM_001352214.2:c.48= | NM_001352214.2:c.48T>C |
| ANKS1B transcript variant 51 | NM_001352214.1:c.48= | NM_001352214.1:c.48T>C |
| ANKS1B transcript variant 50 | NM_001352213.2:c.48= | NM_001352213.2:c.48T>C |
| ANKS1B transcript variant 50 | NM_001352213.1:c.48= | NM_001352213.1:c.48T>C |
| ANKS1B transcript variant 52 | NM_001352216.2:c.48= | NM_001352216.2:c.48T>C |
| ANKS1B transcript variant 52 | NM_001352216.1:c.48= | NM_001352216.1:c.48T>C |
| ANKS1B transcript variant 14 | NM_001352188.1:c.3327= | NM_001352188.1:c.3327T>C |
| ANKS1B transcript variant 15 | NM_001352187.1:c.3255= | NM_001352187.1:c.3255T>C |
| ANKS1B transcript variant 16 | NM_001352185.1:c.3255= | NM_001352185.1:c.3255T>C |
| ANKS1B transcript variant 25 | NM_001352190.1:c.915= | NM_001352190.1:c.915T>C |
| ANKS1B transcript variant 24 | NM_001352189.1:c.912= | NM_001352189.1:c.912T>C |
| ANKS1B transcript variant X6 | XM_005269029.6:c.3243= | XM_005269029.6:c.3243T>C |
| ANKS1B transcript variant X9 | XM_005269029.5:c.3243= | XM_005269029.5:c.3243T>C |
| ANKS1B transcript variant X13 | XM_005269029.4:c.3243= | XM_005269029.4:c.3243T>C |
| ANKS1B transcript variant X11 | XM_005269029.3:c.3243= | XM_005269029.3:c.3243T>C |
| ANKS1B transcript variant X2 | XM_005269029.2:c.3243= | XM_005269029.2:c.3243T>C |
| ANKS1B transcript variant X2 | XM_005269029.1:c.3243= | XM_005269029.1:c.3243T>C |
| ANKS1B transcript variant X5 | XM_006719508.5:c.3330= | XM_006719508.5:c.3330T>C |
| ANKS1B transcript variant X7 | XM_006719508.4:c.3330= | XM_006719508.4:c.3330T>C |
| ANKS1B transcript variant X10 | XM_006719508.3:c.3330= | XM_006719508.3:c.3330T>C |
| ANKS1B transcript variant X9 | XM_006719508.2:c.3330= | XM_006719508.2:c.3330T>C |
| ANKS1B transcript variant X10 | XM_006719508.1:c.3330= | XM_006719508.1:c.3330T>C |
| ANKS1B transcript variant X8 | XM_006719510.5:c.3255= | XM_006719510.5:c.3255T>C |
| ANKS1B transcript variant X12 | XM_006719510.4:c.3255= | XM_006719510.4:c.3255T>C |
| ANKS1B transcript variant X16 | XM_006719510.3:c.3255= | XM_006719510.3:c.3255T>C |
| ANKS1B transcript variant X14 | XM_006719510.2:c.3255= | XM_006719510.2:c.3255T>C |
| ANKS1B transcript variant X12 | XM_006719510.1:c.3255= | XM_006719510.1:c.3255T>C |
| ANKS1B transcript variant X2 | XM_006719505.5:c.3330= | XM_006719505.5:c.3330T>C |
| ANKS1B transcript variant X2 | XM_006719505.4:c.3330= | XM_006719505.4:c.3330T>C |
| ANKS1B transcript variant X3 | XM_006719505.3:c.3330= | XM_006719505.3:c.3330T>C |
| ANKS1B transcript variant X5 | XM_006719505.2:c.3330= | XM_006719505.2:c.3330T>C |
| ANKS1B transcript variant X7 | XM_006719505.1:c.3330= | XM_006719505.1:c.3330T>C |
| ANKS1B transcript variant X1 | XM_006719504.5:c.3327= | XM_006719504.5:c.3327T>C |
| ANKS1B transcript variant X1 | XM_006719504.4:c.3327= | XM_006719504.4:c.3327T>C |
| ANKS1B transcript variant X2 | XM_006719504.3:c.3327= | XM_006719504.3:c.3327T>C |
| ANKS1B transcript variant X4 | XM_006719504.2:c.3327= | XM_006719504.2:c.3327T>C |
| ANKS1B transcript variant X6 | XM_006719504.1:c.3327= | XM_006719504.1:c.3327T>C |
| ANKS1B transcript variant X9 | XM_006719512.5:c.3075= | XM_006719512.5:c.3075T>C |
| ANKS1B transcript variant X14 | XM_006719512.4:c.3075= | XM_006719512.4:c.3075T>C |
| ANKS1B transcript variant X18 | XM_006719512.3:c.3075= | XM_006719512.3:c.3075T>C |
| ANKS1B transcript variant X16 | XM_006719512.2:c.3075= | XM_006719512.2:c.3075T>C |
| ANKS1B transcript variant X14 | XM_006719512.1:c.3075= | XM_006719512.1:c.3075T>C |
| ANKS1B transcript variant X10 | XM_006719513.5:c.3075= | XM_006719513.5:c.3075T>C |
| ANKS1B transcript variant X15 | XM_006719513.4:c.3075= | XM_006719513.4:c.3075T>C |
| ANKS1B transcript variant X19 | XM_006719513.3:c.3075= | XM_006719513.3:c.3075T>C |
| ANKS1B transcript variant X17 | XM_006719513.2:c.3075= | XM_006719513.2:c.3075T>C |
| ANKS1B transcript variant X15 | XM_006719513.1:c.3075= | XM_006719513.1:c.3075T>C |
| ANKS1B transcript variant X4 | XM_006719507.5:c.3330= | XM_006719507.5:c.3330T>C |
| ANKS1B transcript variant X4 | XM_006719507.4:c.3330= | XM_006719507.4:c.3330T>C |
| ANKS1B transcript variant X6 | XM_006719507.3:c.3330= | XM_006719507.3:c.3330T>C |
| ANKS1B transcript variant X7 | XM_006719507.2:c.3330= | XM_006719507.2:c.3330T>C |
| ANKS1B transcript variant X9 | XM_006719507.1:c.3330= | XM_006719507.1:c.3330T>C |
| ANKS1B transcript variant X11 | XM_006719514.5:c.3063= | XM_006719514.5:c.3063T>C |
| ANKS1B transcript variant X17 | XM_006719514.4:c.3063= | XM_006719514.4:c.3063T>C |
| ANKS1B transcript variant X21 | XM_006719514.3:c.3063= | XM_006719514.3:c.3063T>C |
| ANKS1B transcript variant X18 | XM_006719514.2:c.3063= | XM_006719514.2:c.3063T>C |
| ANKS1B transcript variant X16 | XM_006719514.1:c.3063= | XM_006719514.1:c.3063T>C |
| ANKS1B transcript variant X7 | XM_011538571.4:c.3228= | XM_011538571.4:c.3228T>C |
| ANKS1B transcript variant X10 | XM_011538571.3:c.3228= | XM_011538571.3:c.3228T>C |
| ANKS1B transcript variant X14 | XM_011538571.2:c.3228= | XM_011538571.2:c.3228T>C |
| ANKS1B transcript variant X12 | XM_011538571.1:c.3228= | XM_011538571.1:c.3228T>C |
| ANKS1B transcript variant X3 | XM_017019652.3:c.3318= | XM_017019652.3:c.3318T>C |
| ANKS1B transcript variant X3 | XM_017019652.2:c.3318= | XM_017019652.2:c.3318T>C |
| ANKS1B transcript variant X5 | XM_017019652.1:c.3318= | XM_017019652.1:c.3318T>C |
| ANKS1B transcript variant X14 | XM_024449061.2:c.2226= | XM_024449061.2:c.2226T>C |
| ANKS1B transcript variant X20 | XM_024449061.1:c.2226= | XM_024449061.1:c.2226T>C |
| ANKS1B transcript variant X13 | XM_024449060.2:c.2070= | XM_024449060.2:c.2070T>C |
| ANKS1B transcript variant X19 | XM_024449060.1:c.2070= | XM_024449060.1:c.2070T>C |
| ANKS1B transcript variant X20 | XM_024449069.2:c.837= | XM_024449069.2:c.837T>C |
| ANKS1B transcript variant X28 | XM_024449069.1:c.837= | XM_024449069.1:c.837T>C |
| ANKS1B transcript variant X18 | XM_024449065.2:c.915= | XM_024449065.2:c.915T>C |
| ANKS1B transcript variant X24 | XM_024449065.1:c.915= | XM_024449065.1:c.915T>C |
| ANKS1B transcript variant X15 | XM_047429165.1:c.2070= | XM_047429165.1:c.2070T>C |
| ANKS1B transcript variant X16 | XM_047429166.1:c.2070= | XM_047429166.1:c.2070T>C |
| ANKS1B transcript variant X17 | XM_047429167.1:c.2070= | XM_047429167.1:c.2070T>C |
| ANKS1B transcript variant X19 | XM_047429168.1:c.903= | XM_047429168.1:c.903T>C |
| ANKS1B transcript variant X21 | XM_047429169.1:c.837= | XM_047429169.1:c.837T>C |
| ANKS1B transcript variant X22 | XM_047429170.1:c.345= | XM_047429170.1:c.345T>C |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a | NP_690001.3:p.Cys1085= | NP_690001.3:p.Cys1085= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform b | NP_858056.2:p.Cys335= | NP_858056.2:p.Cys335= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c | NP_064525.1:p.Cys251= | NP_064525.1:p.Cys251= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform m | NP_001339115.1:p.Cys1110= | NP_001339115.1:p.Cys1110= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform u | NP_001339129.1:p.Cys336= | NP_001339129.1:p.Cys336= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform q | NP_001339127.1:p.Cys336= | NP_001339127.1:p.Cys336= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform oo | NP_001339134.1:p.Cys336= | NP_001339134.1:p.Cys336= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform r | NP_001339124.1:p.Cys335= | NP_001339124.1:p.Cys335= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform g | NP_001190997.1:p.Cys311= | NP_001190997.1:p.Cys311= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform t | NP_001339133.1:p.Cys311= | NP_001339133.1:p.Cys311= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform pp | NP_001339131.1:p.Cys311= | NP_001339131.1:p.Cys311= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h | NP_001190998.1:p.Cys275= | NP_001190998.1:p.Cys275= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform x | NP_001339135.1:p.Cys275= | NP_001339135.1:p.Cys275= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform i | NP_001190999.1:p.Cys251= | NP_001190999.1:p.Cys251= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform aa | NP_001339128.1:p.Cys251= | NP_001339128.1:p.Cys251= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform bb | NP_001339132.1:p.Cys240= | NP_001339132.1:p.Cys240= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform y | NP_001339122.1:p.Cys254= | NP_001339122.1:p.Cys254= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform z | NP_001339121.1:p.Cys254= | NP_001339121.1:p.Cys254= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform cc | NP_001339123.1:p.Cys215= | NP_001339123.1:p.Cys215= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform dd | NP_001339130.1:p.Cys215= | NP_001339130.1:p.Cys215= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ee | NP_001339120.1:p.Cys194= | NP_001339120.1:p.Cys194= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform f | NP_001190996.1:p.Cys220= | NP_001190996.1:p.Cys220= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform e | NP_001190995.1:p.Cys183= | NP_001190995.1:p.Cys183= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg | NP_001339137.1:p.Cys115= | NP_001339137.1:p.Cys115= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ff | NP_001339148.1:p.Cys116= | NP_001339148.1:p.Cys116= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform j | NP_001191008.1:p.Cys116= | NP_001191008.1:p.Cys116= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d | NP_001190994.1:p.Cys115= | NP_001190994.1:p.Cys115= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg | NP_001339151.1:p.Cys115= | NP_001339151.1:p.Cys115= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k | NP_001339136.1:p.Cys91= | NP_001339136.1:p.Cys91= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii | NP_001339138.1:p.Cys91= | NP_001339138.1:p.Cys91= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k | NP_001191009.1:p.Cys91= | NP_001191009.1:p.Cys91= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii | NP_001339150.1:p.Cys91= | NP_001339150.1:p.Cys91= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform kk | NP_001339139.1:p.Cys66= | NP_001339139.1:p.Cys66= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform jj | NP_001339154.1:p.Cys66= | NP_001339154.1:p.Cys66= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339147.1:p.Cys16= | NP_001339147.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339141.1:p.Cys16= | NP_001339141.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339149.1:p.Cys16= | NP_001339149.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform mm | NP_001339146.1:p.Cys16= | NP_001339146.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339140.1:p.Cys16= | NP_001339140.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll | NP_001339153.1:p.Cys16= | NP_001339153.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s | NP_001339125.1:p.Cys335= | NP_001339125.1:p.Cys335= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w | NP_001339126.1:p.Cys311= | NP_001339126.1:p.Cys311= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh | NP_001339152.1:p.Cys116= | NP_001339152.1:p.Cys116= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l | NP_001191010.1:p.Cys91= | NP_001191010.1:p.Cys91= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339143.1:p.Cys16= | NP_001339143.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339142.1:p.Cys16= | NP_001339142.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn | NP_001339145.1:p.Cys16= | NP_001339145.1:p.Cys16= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform n | NP_001339117.1:p.Cys1109= | NP_001339117.1:p.Cys1109= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform o | NP_001339116.1:p.Cys1085= | NP_001339116.1:p.Cys1085= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform p | NP_001339114.1:p.Cys1085= | NP_001339114.1:p.Cys1085= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform qq | NP_001339119.1:p.Cys305= | NP_001339119.1:p.Cys305= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform v | NP_001339118.1:p.Cys304= | NP_001339118.1:p.Cys304= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X6 | XP_005269086.1:p.Cys1081= | XP_005269086.1:p.Cys1081= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X5 | XP_006719571.1:p.Cys1110= | XP_006719571.1:p.Cys1110= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X8 | XP_006719573.1:p.Cys1085= | XP_006719573.1:p.Cys1085= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X2 | XP_006719568.1:p.Cys1110= | XP_006719568.1:p.Cys1110= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X1 | XP_006719567.1:p.Cys1109= | XP_006719567.1:p.Cys1109= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X9 | XP_006719575.1:p.Cys1025= | XP_006719575.1:p.Cys1025= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X10 | XP_006719576.1:p.Cys1025= | XP_006719576.1:p.Cys1025= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X4 | XP_006719570.1:p.Cys1110= | XP_006719570.1:p.Cys1110= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X11 | XP_006719577.1:p.Cys1021= | XP_006719577.1:p.Cys1021= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X7 | XP_011536873.1:p.Cys1076= | XP_011536873.1:p.Cys1076= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X3 | XP_016875141.1:p.Cys1106= | XP_016875141.1:p.Cys1106= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X14 | XP_024304829.1:p.Cys742= | XP_024304829.1:p.Cys742= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_024304828.1:p.Cys690= | XP_024304828.1:p.Cys690= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X17 | XP_024304837.1:p.Cys279= | XP_024304837.1:p.Cys279= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X15 | XP_024304833.1:p.Cys305= | XP_024304833.1:p.Cys305= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285121.1:p.Cys690= | XP_047285121.1:p.Cys690= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285122.1:p.Cys690= | XP_047285122.1:p.Cys690= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X13 | XP_047285123.1:p.Cys690= | XP_047285123.1:p.Cys690= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X16 | XP_047285124.1:p.Cys301= | XP_047285124.1:p.Cys301= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X17 | XP_047285125.1:p.Cys279= | XP_047285125.1:p.Cys279= |
| ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X18 | XP_047285126.1:p.Cys115= | XP_047285126.1:p.Cys115= |
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#.
1 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TOPMED | ss4929876209 | Apr 27, 2021 (155) |
| 2 | TopMed | NC_000012.12 - 98798946 | Apr 27, 2021 (155) |
| 3 | ALFA | NC_000012.12 - 98798946 | 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 rs1485284962
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
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.