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.
rs1482317412
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:140803616 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)A=0.000007 (1/140158, GnomAD)A=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PTK2 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | G=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999996 | A=0.000004 |
| gnomAD - Genomes | Global | Study-wide | 140158 | G=0.999993 | A=0.000007 |
| gnomAD - Genomes | European | Sub | 75902 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | African | Sub | 42012 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | American | Sub | 13646 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3128 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.9995 | A=0.0005 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.140803616G>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.141813715G>A |
| PTK2 RefSeqGene | NG_029467.2:g.202698C>T |
Gene: PTK2, protein tyrosine kinase 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PTK2 transcript variant 27 |
NM_001352716.2:c.868-3040… NM_001352716.2:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 37 |
NM_001352726.2:c.868-3040… NM_001352726.2:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 39 |
NM_001352728.2:c.868-3040… NM_001352728.2:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 40 |
NM_001352729.2:c.868-3040… NM_001352729.2:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 55 |
NM_001352744.2:c.529-3040… NM_001352744.2:c.529-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 56 |
NM_001352745.2:c.529-3040… NM_001352745.2:c.529-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 57 |
NM_001352746.2:c.466-3040… NM_001352746.2:c.466-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 74 |
NM_001387590.1:c.529-3040… NM_001387590.1:c.529-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 89 |
NM_001387615.1:c.868-3040… NM_001387615.1:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 93 |
NM_001387619.1:c.868-3040… NM_001387619.1:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 98 |
NM_001387624.1:c.868-3040… NM_001387624.1:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 105 |
NM_001387631.1:c.868-3040… NM_001387631.1:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 109 |
NM_001387635.1:c.529-3040… NM_001387635.1:c.529-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 127 |
NM_001387653.1:c.868-3040… NM_001387653.1:c.868-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant 58 | NM_001352747.2:c.-738= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 76 | NM_001387592.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 78 | NM_001387604.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 103 | NM_001387629.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 91 | NM_001387617.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 95 | NM_001387621.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 90 | NM_001387616.1:c.-41= | N/A | 5 Prime UTR Variant |
| PTK2 transcript variant 60 | NM_001352749.2:c. | N/A | Genic Upstream Transcript Variant |
| PTK2 transcript variant 61 | NM_001352750.2:c. | N/A | Genic Upstream Transcript Variant |
| PTK2 transcript variant 62 | NM_001352751.2:c. | N/A | Genic Upstream Transcript Variant |
| PTK2 transcript variant 63 | NM_001352752.2:c. | N/A | Genic Upstream Transcript Variant |
| PTK2 transcript variant 72 | NM_001387588.1:c. | N/A | Genic Downstream Transcript Variant |
| PTK2 transcript variant 73 | NM_001387589.1:c. | N/A | Genic Downstream Transcript Variant |
| PTK2 transcript variant 125 | NM_001387651.1:c. | N/A | Genic Downstream Transcript Variant |
| PTK2 transcript variant 35 | NM_001352724.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 19 | NP_001339653.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 17 | NM_001352706.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001339635.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 2 | NM_005607.5:c.968C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 2 | NP_005598.3:p.Thr323Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 45 | NM_001352734.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 29 | NP_001339663.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 26 | NM_001352715.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 14 | NP_001339644.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 6 | NM_001352695.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 48 | NP_001339624.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 46 | NM_001352735.2:c.500C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 46 | NP_001339664.1:p.Thr167Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 53 | NM_001352742.2:c.500C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 36 | NP_001339671.1:p.Thr167Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 13 | NM_001352702.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 7 | NP_001339631.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 12 | NM_001352701.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 7 | NP_001339630.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 50 | NM_001352739.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 33 | NP_001339668.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 48 | NM_001352737.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 31 | NP_001339666.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 22 | NM_001352711.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 11 | NP_001339640.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 43 | NM_001352732.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 27 | NP_001339661.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 42 | NM_001352731.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 26 | NP_001339660.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 33 | NM_001352722.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 18 | NP_001339651.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 16 | NM_001352705.2:c.941C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 9 | NP_001339634.1:p.Thr314Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 20 | NM_001352709.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001339638.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 31 | NM_001352720.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 17 | NP_001339649.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 11 | NM_001352700.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 7 | NP_001339629.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 21 | NM_001352710.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001339639.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 28 | NM_001352717.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 16 | NP_001339646.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 19 | NM_001352708.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001339637.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 41 | NM_001352730.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 25 | NP_001339659.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 5 | NM_001352694.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001339623.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 30 | NM_001352719.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 17 | NP_001339648.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 4 | NM_001316342.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 4 | NP_001303271.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 8 | NM_001352697.2:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 5 | NP_001339626.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 3 | NM_001199649.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 3 | NP_001186578.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 36 | NM_001352725.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 20 | NP_001339654.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 44 | NM_001352733.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 28 | NP_001339662.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 23 | NM_001352712.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 12 | NP_001339641.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 38 | NM_001352727.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 22 | NP_001339656.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 59 | NM_001352748.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 41 | NP_001339677.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 51 | NM_001352740.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 34 | NP_001339669.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 25 | NM_001352714.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 13 | NP_001339643.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 18 | NM_001352707.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001339636.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 54 | NM_001352743.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 47 | NP_001339672.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 10 | NM_001352699.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 7 | NP_001339628.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 32 | NM_001352721.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 18 | NP_001339650.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 14 | NM_001352703.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 7 | NP_001339632.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 7 | NM_001352696.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 4 | NP_001339625.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 47 | NM_001352736.2:c.599C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 30 | NP_001339665.1:p.Thr200Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 52 | NM_001352741.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 35 | NP_001339670.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 24 | NM_001352713.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 13 | NP_001339642.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 9 | NM_001352698.2:c.941C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 6 | NP_001339627.1:p.Thr314Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 34 | NM_001352723.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 18 | NP_001339652.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 15 | NM_001352704.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 8 | NP_001339633.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 49 | NM_001352738.2:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 32 | NP_001339667.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 1 | NM_153831.4:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_722560.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 29 | NM_001352718.2:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 17 | NP_001339647.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 85 | NM_001387611.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 57 | NP_001374540.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 130 | NM_001387656.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 20 | NP_001374585.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 124 | NM_001387650.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374579.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 120 | NM_001387646.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374575.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 69 | NM_001387585.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 59 | NP_001374514.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 70 | NM_001387586.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374515.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 71 | NM_001387587.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374516.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 88 | NM_001387614.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 59 | NP_001374543.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 96 | NM_001387622.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 16 | NP_001374551.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 102 | NM_001387628.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374557.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 106 | NM_001387632.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 59 | NP_001374561.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 108 | NM_001387634.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 14 | NP_001374563.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 110 | NM_001387636.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374565.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 111 | NM_001387637.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374566.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 112 | NM_001387638.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 17 | NP_001374567.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 113 | NM_001387639.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 10 | NP_001374568.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 116 | NM_001387642.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374571.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 119 | NM_001387645.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374574.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 121 | NM_001387647.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374576.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 129 | NM_001387655.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374584.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 131 | NM_001387657.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374586.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 132 | NM_001387658.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 1 | NP_001374587.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 133 | NM_001387659.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 17 | NP_001374588.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 81 | NM_001387607.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 58 | NP_001374536.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 99 | NM_001387625.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 20 | NP_001374554.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 134 | NM_001387660.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374589.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 123 | NM_001387649.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 63 | NP_001374578.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 68 | NM_001387584.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374513.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 92 | NM_001387618.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374547.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 77 | NM_001387603.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 55 | NP_001374532.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 83 | NM_001387609.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 35 | NP_001374538.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 82 | NM_001387608.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374537.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 122 | NM_001387648.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374577.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 126 | NM_001387652.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374581.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 75 | NM_001387591.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 54 | NP_001374520.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 101 | NM_001387627.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 60 | NP_001374556.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 80 | NM_001387606.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 33 | NP_001374535.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 107 | NM_001387633.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 68 | NP_001374562.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 104 | NM_001387630.1:c.380C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 52 | NP_001374559.1:p.Thr127Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 136 | NM_001387662.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 61 | NP_001374591.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 135 | NM_001387661.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374590.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 87 | NM_001387613.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 35 | NP_001374542.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 86 | NM_001387612.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374541.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 128 | NM_001387654.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374583.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 97 | NM_001387623.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374552.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 114 | NM_001387640.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 64 | NP_001374569.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 115 | NM_001387641.1:c.941C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 72 | NP_001374570.1:p.Thr314Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 117 | NM_001387643.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 65 | NP_001374572.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 84 | NM_001387610.1:c.380C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 52 | NP_001374539.1:p.Thr127Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 94 | NM_001387620.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 4 | NP_001374549.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 79 | NM_001387605.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 56 | NP_001374534.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 118 | NM_001387644.1:c.941C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform 62 | NP_001374573.1:p.Thr314Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant 66 | NR_148038.2:n.1014C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 64 | NR_148036.2:n.1181C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 65 | NR_148037.2:n.1296C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 138 | NR_170671.1:n.925C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 140 | NR_170673.1:n.1092C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 139 | NR_170672.1:n.1092C>T | N/A | Non Coding Transcript Variant |
| PTK2 transcript variant 67 | NR_148039.2:n. | N/A | Intron Variant |
| PTK2 transcript variant 137 | NR_170670.1:n. | N/A | Genic Downstream Transcript Variant |
| PTK2 transcript variant X30 |
XM_024447208.2:c.1021-304… XM_024447208.2:c.1021-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X32 |
XM_024447209.2:c.1021-304… XM_024447209.2:c.1021-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X17 |
XM_047422032.1:c.1021-304… XM_047422032.1:c.1021-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X34 |
XM_047422045.1:c.1021-304… XM_047422045.1:c.1021-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X35 |
XM_047422046.1:c.1021-304… XM_047422046.1:c.1021-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X36 |
XM_047422047.1:c.1000-304… XM_047422047.1:c.1000-3040C>T |
N/A | Intron Variant |
| PTK2 transcript variant X1 | XM_047422016.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X1 | XP_047277972.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X2 | XM_047422017.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X2 | XP_047277973.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X3 | XM_047422018.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X3 | XP_047277974.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X4 | XM_047422019.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X4 | XP_047277975.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X5 | XM_047422020.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X4 | XP_047277976.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X6 | XM_047422021.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X4 | XP_047277977.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X7 | XM_047422022.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X5 | XP_047277978.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X8 | XM_047422023.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X6 | XP_047277979.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X9 | XM_047422024.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X7 | XP_047277980.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X10 | XM_047422025.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X8 | XP_047277981.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X11 | XM_047422026.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X9 | XP_047277982.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X12 | XM_047422027.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X10 | XP_047277983.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X13 | XM_047422028.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X11 | XP_047277984.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X14 | XM_047422029.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X12 | XP_047277985.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X15 | XM_047422030.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X13 | XP_047277986.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X16 | XM_047422031.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X14 | XP_047277987.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X18 | XM_024447202.2:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X16 | XP_024302970.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X19 | XM_024447203.2:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X17 | XP_024302971.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X20 | XM_047422033.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X18 | XP_047277989.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X21 | XM_047422034.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X19 | XP_047277990.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X22 | XM_047422035.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X20 | XP_047277991.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X23 | XM_047422036.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X21 | XP_047277992.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X24 | XM_047422037.1:c.1034C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X22 | XP_047277993.1:p.Thr345Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X25 | XM_047422038.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X23 | XP_047277994.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X26 | XM_047422039.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X24 | XP_047277995.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X27 | XM_047422040.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X25 | XP_047277996.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X28 | XM_047422041.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X26 | XP_047277997.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X29 | XM_024447207.2:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X27 | XP_024302975.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X31 | XM_047422043.1:c.1055C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X29 | XP_047277999.1:p.Thr352Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X33 | XM_047422044.1:c.941C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X31 | XP_047278000.1:p.Thr314Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X37 | XM_047422048.1:c.599C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X35 | XP_047278004.1:p.Thr200Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X38 | XM_047422049.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X24 | XP_047278005.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X39 | XM_047422050.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X36 | XP_047278006.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X40 | XM_047422052.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X37 | XP_047278008.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X41 | XM_047422053.1:c.902C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X24 | XP_047278009.1:p.Thr301Ile | T (Thr) > I (Ile) | Missense Variant |
| PTK2 transcript variant X42 | XM_047422054.1:c.563C>T | T [ACC] > I [ATC] | Coding Sequence Variant |
| focal adhesion kinase 1 isoform X38 | XP_047278010.1:p.Thr188Ile | T (Thr) > I (Ile) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A |
|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.140803616= | NC_000008.11:g.140803616G>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.141813715= | NC_000008.10:g.141813715G>A |
| PTK2 RefSeqGene | NG_029467.2:g.202698= | NG_029467.2:g.202698C>T |
| PTK2 transcript variant 2 | NM_005607.5:c.968= | NM_005607.5:c.968C>T |
| PTK2 transcript variant 2 | NM_005607.4:c.968= | NM_005607.4:c.968C>T |
| PTK2 transcript variant 1 | NM_153831.4:c.902= | NM_153831.4:c.902C>T |
| PTK2 transcript variant 1 | NM_153831.3:c.902= | NM_153831.3:c.902C>T |
| PTK2 transcript variant 8 | NM_001352697.2:c.1034= | NM_001352697.2:c.1034C>T |
| PTK2 transcript variant 8 | NM_001352697.1:c.1034= | NM_001352697.1:c.1034C>T |
| PTK2 transcript variant 9 | NM_001352698.2:c.941= | NM_001352698.2:c.941C>T |
| PTK2 transcript variant 9 | NM_001352698.1:c.941= | NM_001352698.1:c.941C>T |
| PTK2 transcript variant 16 | NM_001352705.2:c.941= | NM_001352705.2:c.941C>T |
| PTK2 transcript variant 16 | NM_001352705.1:c.941= | NM_001352705.1:c.941C>T |
| PTK2 transcript variant 23 | NM_001352712.2:c.902= | NM_001352712.2:c.902C>T |
| PTK2 transcript variant 23 | NM_001352712.1:c.902= | NM_001352712.1:c.902C>T |
| PTK2 transcript variant 12 | NM_001352701.2:c.902= | NM_001352701.2:c.902C>T |
| PTK2 transcript variant 12 | NM_001352701.1:c.902= | NM_001352701.1:c.902C>T |
| PTK2 transcript variant 14 | NM_001352703.2:c.902= | NM_001352703.2:c.902C>T |
| PTK2 transcript variant 14 | NM_001352703.1:c.902= | NM_001352703.1:c.902C>T |
| PTK2 transcript variant 58 | NM_001352747.2:c.-738= | NM_001352747.2:c.-738C>T |
| PTK2 transcript variant 58 | NM_001352747.1:c.-738= | NM_001352747.1:c.-738C>T |
| PTK2 transcript variant 13 | NM_001352702.2:c.902= | NM_001352702.2:c.902C>T |
| PTK2 transcript variant 13 | NM_001352702.1:c.902= | NM_001352702.1:c.902C>T |
| PTK2 transcript variant 15 | NM_001352704.2:c.902= | NM_001352704.2:c.902C>T |
| PTK2 transcript variant 15 | NM_001352704.1:c.902= | NM_001352704.1:c.902C>T |
| PTK2 transcript variant 18 | NM_001352707.2:c.902= | NM_001352707.2:c.902C>T |
| PTK2 transcript variant 18 | NM_001352707.1:c.902= | NM_001352707.1:c.902C>T |
| PTK2 transcript variant 65 | NR_148037.2:n.1296= | NR_148037.2:n.1296C>T |
| PTK2 transcript variant 65 | NR_148037.1:n.1327= | NR_148037.1:n.1327C>T |
| PTK2 transcript variant 20 | NM_001352709.2:c.902= | NM_001352709.2:c.902C>T |
| PTK2 transcript variant 20 | NM_001352709.1:c.902= | NM_001352709.1:c.902C>T |
| PTK2 transcript variant 11 | NM_001352700.2:c.902= | NM_001352700.2:c.902C>T |
| PTK2 transcript variant 11 | NM_001352700.1:c.902= | NM_001352700.1:c.902C>T |
| PTK2 transcript variant 10 | NM_001352699.2:c.902= | NM_001352699.2:c.902C>T |
| PTK2 transcript variant 10 | NM_001352699.1:c.902= | NM_001352699.1:c.902C>T |
| PTK2 transcript variant 6 | NM_001352695.2:c.902= | NM_001352695.2:c.902C>T |
| PTK2 transcript variant 6 | NM_001352695.1:c.902= | NM_001352695.1:c.902C>T |
| PTK2 transcript variant 3 | NM_001199649.2:c.902= | NM_001199649.2:c.902C>T |
| PTK2 transcript variant 3 | NM_001199649.1:c.902= | NM_001199649.1:c.902C>T |
| PTK2 transcript variant 25 | NM_001352714.2:c.902= | NM_001352714.2:c.902C>T |
| PTK2 transcript variant 25 | NM_001352714.1:c.902= | NM_001352714.1:c.902C>T |
| PTK2 transcript variant 64 | NR_148036.2:n.1181= | NR_148036.2:n.1181C>T |
| PTK2 transcript variant 64 | NR_148036.1:n.1212= | NR_148036.1:n.1212C>T |
| PTK2 transcript variant 28 | NM_001352717.2:c.902= | NM_001352717.2:c.902C>T |
| PTK2 transcript variant 28 | NM_001352717.1:c.902= | NM_001352717.1:c.902C>T |
| PTK2 transcript variant 19 | NM_001352708.2:c.902= | NM_001352708.2:c.902C>T |
| PTK2 transcript variant 19 | NM_001352708.1:c.902= | NM_001352708.1:c.902C>T |
| PTK2 transcript variant 21 | NM_001352710.2:c.902= | NM_001352710.2:c.902C>T |
| PTK2 transcript variant 21 | NM_001352710.1:c.902= | NM_001352710.1:c.902C>T |
| PTK2 transcript variant 29 | NM_001352718.2:c.902= | NM_001352718.2:c.902C>T |
| PTK2 transcript variant 29 | NM_001352718.1:c.902= | NM_001352718.1:c.902C>T |
| PTK2 transcript variant 36 | NM_001352725.2:c.902= | NM_001352725.2:c.902C>T |
| PTK2 transcript variant 36 | NM_001352725.1:c.902= | NM_001352725.1:c.902C>T |
| PTK2 transcript variant 34 | NM_001352723.2:c.902= | NM_001352723.2:c.902C>T |
| PTK2 transcript variant 34 | NM_001352723.1:c.902= | NM_001352723.1:c.902C>T |
| PTK2 transcript variant 30 | NM_001352719.2:c.902= | NM_001352719.2:c.902C>T |
| PTK2 transcript variant 30 | NM_001352719.1:c.902= | NM_001352719.1:c.902C>T |
| PTK2 transcript variant 35 | NM_001352724.2:c.902= | NM_001352724.2:c.902C>T |
| PTK2 transcript variant 35 | NM_001352724.1:c.902= | NM_001352724.1:c.902C>T |
| PTK2 transcript variant 42 | NM_001352731.2:c.563= | NM_001352731.2:c.563C>T |
| PTK2 transcript variant 42 | NM_001352731.1:c.563= | NM_001352731.1:c.563C>T |
| PTK2 transcript variant 17 | NM_001352706.2:c.902= | NM_001352706.2:c.902C>T |
| PTK2 transcript variant 17 | NM_001352706.1:c.902= | NM_001352706.1:c.902C>T |
| PTK2 transcript variant 22 | NM_001352711.2:c.902= | NM_001352711.2:c.902C>T |
| PTK2 transcript variant 22 | NM_001352711.1:c.902= | NM_001352711.1:c.902C>T |
| PTK2 transcript variant 33 | NM_001352722.2:c.902= | NM_001352722.2:c.902C>T |
| PTK2 transcript variant 33 | NM_001352722.1:c.902= | NM_001352722.1:c.902C>T |
| PTK2 transcript variant 24 | NM_001352713.2:c.902= | NM_001352713.2:c.902C>T |
| PTK2 transcript variant 24 | NM_001352713.1:c.902= | NM_001352713.1:c.902C>T |
| PTK2 transcript variant 26 | NM_001352715.2:c.902= | NM_001352715.2:c.902C>T |
| PTK2 transcript variant 26 | NM_001352715.1:c.902= | NM_001352715.1:c.902C>T |
| PTK2 transcript variant 48 | NM_001352737.2:c.563= | NM_001352737.2:c.563C>T |
| PTK2 transcript variant 48 | NM_001352737.1:c.563= | NM_001352737.1:c.563C>T |
| PTK2 transcript variant 31 | NM_001352720.2:c.902= | NM_001352720.2:c.902C>T |
| PTK2 transcript variant 31 | NM_001352720.1:c.902= | NM_001352720.1:c.902C>T |
| PTK2 transcript variant 5 | NM_001352694.2:c.902= | NM_001352694.2:c.902C>T |
| PTK2 transcript variant 5 | NM_001352694.1:c.902= | NM_001352694.1:c.902C>T |
| PTK2 transcript variant 32 | NM_001352721.2:c.902= | NM_001352721.2:c.902C>T |
| PTK2 transcript variant 32 | NM_001352721.1:c.902= | NM_001352721.1:c.902C>T |
| PTK2 transcript variant 50 | NM_001352739.2:c.563= | NM_001352739.2:c.563C>T |
| PTK2 transcript variant 50 | NM_001352739.1:c.563= | NM_001352739.1:c.563C>T |
| PTK2 transcript variant 7 | NM_001352696.2:c.563= | NM_001352696.2:c.563C>T |
| PTK2 transcript variant 7 | NM_001352696.1:c.563= | NM_001352696.1:c.563C>T |
| PTK2 transcript variant 41 | NM_001352730.2:c.563= | NM_001352730.2:c.563C>T |
| PTK2 transcript variant 41 | NM_001352730.1:c.563= | NM_001352730.1:c.563C>T |
| PTK2 transcript variant 46 | NM_001352735.2:c.500= | NM_001352735.2:c.500C>T |
| PTK2 transcript variant 46 | NM_001352735.1:c.500= | NM_001352735.1:c.500C>T |
| PTK2 transcript variant 43 | NM_001352732.2:c.563= | NM_001352732.2:c.563C>T |
| PTK2 transcript variant 43 | NM_001352732.1:c.563= | NM_001352732.1:c.563C>T |
| PTK2 transcript variant 47 | NM_001352736.2:c.599= | NM_001352736.2:c.599C>T |
| PTK2 transcript variant 47 | NM_001352736.1:c.599= | NM_001352736.1:c.599C>T |
| PTK2 transcript variant 51 | NM_001352740.2:c.563= | NM_001352740.2:c.563C>T |
| PTK2 transcript variant 51 | NM_001352740.1:c.563= | NM_001352740.1:c.563C>T |
| PTK2 transcript variant 44 | NM_001352733.2:c.563= | NM_001352733.2:c.563C>T |
| PTK2 transcript variant 44 | NM_001352733.1:c.563= | NM_001352733.1:c.563C>T |
| PTK2 transcript variant 54 | NM_001352743.2:c.563= | NM_001352743.2:c.563C>T |
| PTK2 transcript variant 54 | NM_001352743.1:c.563= | NM_001352743.1:c.563C>T |
| PTK2 transcript variant 38 | NM_001352727.2:c.902= | NM_001352727.2:c.902C>T |
| PTK2 transcript variant 38 | NM_001352727.1:c.902= | NM_001352727.1:c.902C>T |
| PTK2 transcript variant 45 | NM_001352734.2:c.563= | NM_001352734.2:c.563C>T |
| PTK2 transcript variant 45 | NM_001352734.1:c.563= | NM_001352734.1:c.563C>T |
| PTK2 transcript variant 4 | NM_001316342.2:c.563= | NM_001316342.2:c.563C>T |
| PTK2 transcript variant 4 | NM_001316342.1:c.563= | NM_001316342.1:c.563C>T |
| PTK2 transcript variant 49 | NM_001352738.2:c.563= | NM_001352738.2:c.563C>T |
| PTK2 transcript variant 49 | NM_001352738.1:c.563= | NM_001352738.1:c.563C>T |
| PTK2 transcript variant 66 | NR_148038.2:n.1014= | NR_148038.2:n.1014C>T |
| PTK2 transcript variant 66 | NR_148038.1:n.1045= | NR_148038.1:n.1045C>T |
| PTK2 transcript variant 52 | NM_001352741.2:c.563= | NM_001352741.2:c.563C>T |
| PTK2 transcript variant 52 | NM_001352741.1:c.563= | NM_001352741.1:c.563C>T |
| PTK2 transcript variant 53 | NM_001352742.2:c.500= | NM_001352742.2:c.500C>T |
| PTK2 transcript variant 53 | NM_001352742.1:c.500= | NM_001352742.1:c.500C>T |
| PTK2 transcript variant 59 | NM_001352748.2:c.902= | NM_001352748.2:c.902C>T |
| PTK2 transcript variant 59 | NM_001352748.1:c.902= | NM_001352748.1:c.902C>T |
| PTK2 transcript variant 124 | NM_001387650.1:c.1034= | NM_001387650.1:c.1034C>T |
| PTK2 transcript variant 123 | NM_001387649.1:c.1034= | NM_001387649.1:c.1034C>T |
| PTK2 transcript variant 122 | NM_001387648.1:c.1034= | NM_001387648.1:c.1034C>T |
| PTK2 transcript variant 121 | NM_001387647.1:c.902= | NM_001387647.1:c.902C>T |
| PTK2 transcript variant 120 | NM_001387646.1:c.1034= | NM_001387646.1:c.1034C>T |
| PTK2 transcript variant 119 | NM_001387645.1:c.902= | NM_001387645.1:c.902C>T |
| PTK2 transcript variant 136 | NM_001387662.1:c.1034= | NM_001387662.1:c.1034C>T |
| PTK2 transcript variant 135 | NM_001387661.1:c.1034= | NM_001387661.1:c.1034C>T |
| PTK2 transcript variant 118 | NM_001387644.1:c.941= | NM_001387644.1:c.941C>T |
| PTK2 transcript variant 117 | NM_001387643.1:c.1034= | NM_001387643.1:c.1034C>T |
| PTK2 transcript variant 116 | NM_001387642.1:c.902= | NM_001387642.1:c.902C>T |
| PTK2 transcript variant 134 | NM_001387660.1:c.1034= | NM_001387660.1:c.1034C>T |
| PTK2 transcript variant 115 | NM_001387641.1:c.941= | NM_001387641.1:c.941C>T |
| PTK2 transcript variant 114 | NM_001387640.1:c.902= | NM_001387640.1:c.902C>T |
| PTK2 transcript variant 113 | NM_001387639.1:c.902= | NM_001387639.1:c.902C>T |
| PTK2 transcript variant 133 | NM_001387659.1:c.902= | NM_001387659.1:c.902C>T |
| PTK2 transcript variant 112 | NM_001387638.1:c.902= | NM_001387638.1:c.902C>T |
| PTK2 transcript variant 111 | NM_001387637.1:c.902= | NM_001387637.1:c.902C>T |
| PTK2 transcript variant 132 | NM_001387658.1:c.902= | NM_001387658.1:c.902C>T |
| PTK2 transcript variant 110 | NM_001387636.1:c.902= | NM_001387636.1:c.902C>T |
| PTK2 transcript variant 108 | NM_001387634.1:c.902= | NM_001387634.1:c.902C>T |
| PTK2 transcript variant 107 | NM_001387633.1:c.902= | NM_001387633.1:c.902C>T |
| PTK2 transcript variant 140 | NR_170673.1:n.1092= | NR_170673.1:n.1092C>T |
| PTK2 transcript variant 106 | NM_001387632.1:c.902= | NM_001387632.1:c.902C>T |
| PTK2 transcript variant 104 | NM_001387630.1:c.380= | NM_001387630.1:c.380C>T |
| PTK2 transcript variant 103 | NM_001387629.1:c.-41= | NM_001387629.1:c.-41C>T |
| PTK2 transcript variant 102 | NM_001387628.1:c.902= | NM_001387628.1:c.902C>T |
| PTK2 transcript variant 131 | NM_001387657.1:c.902= | NM_001387657.1:c.902C>T |
| PTK2 transcript variant 101 | NM_001387627.1:c.902= | NM_001387627.1:c.902C>T |
| PTK2 transcript variant 99 | NM_001387625.1:c.902= | NM_001387625.1:c.902C>T |
| PTK2 transcript variant 97 | NM_001387623.1:c.563= | NM_001387623.1:c.563C>T |
| PTK2 transcript variant 96 | NM_001387622.1:c.902= | NM_001387622.1:c.902C>T |
| PTK2 transcript variant 95 | NM_001387621.1:c.-41= | NM_001387621.1:c.-41C>T |
| PTK2 transcript variant 130 | NM_001387656.1:c.902= | NM_001387656.1:c.902C>T |
| PTK2 transcript variant 71 | NM_001387587.1:c.902= | NM_001387587.1:c.902C>T |
| PTK2 transcript variant 94 | NM_001387620.1:c.563= | NM_001387620.1:c.563C>T |
| PTK2 transcript variant 92 | NM_001387618.1:c.563= | NM_001387618.1:c.563C>T |
| PTK2 transcript variant 129 | NM_001387655.1:c.902= | NM_001387655.1:c.902C>T |
| PTK2 transcript variant 91 | NM_001387617.1:c.-41= | NM_001387617.1:c.-41C>T |
| PTK2 transcript variant 90 | NM_001387616.1:c.-41= | NM_001387616.1:c.-41C>T |
| PTK2 transcript variant 88 | NM_001387614.1:c.902= | NM_001387614.1:c.902C>T |
| PTK2 transcript variant 87 | NM_001387613.1:c.563= | NM_001387613.1:c.563C>T |
| PTK2 transcript variant 86 | NM_001387612.1:c.563= | NM_001387612.1:c.563C>T |
| PTK2 transcript variant 85 | NM_001387611.1:c.563= | NM_001387611.1:c.563C>T |
| PTK2 transcript variant 70 | NM_001387586.1:c.902= | NM_001387586.1:c.902C>T |
| PTK2 transcript variant 84 | NM_001387610.1:c.380= | NM_001387610.1:c.380C>T |
| PTK2 transcript variant 83 | NM_001387609.1:c.563= | NM_001387609.1:c.563C>T |
| PTK2 transcript variant 82 | NM_001387608.1:c.563= | NM_001387608.1:c.563C>T |
| PTK2 transcript variant 128 | NM_001387654.1:c.563= | NM_001387654.1:c.563C>T |
| PTK2 transcript variant 139 | NR_170672.1:n.1092= | NR_170672.1:n.1092C>T |
| PTK2 transcript variant 81 | NM_001387607.1:c.563= | NM_001387607.1:c.563C>T |
| PTK2 transcript variant 80 | NM_001387606.1:c.563= | NM_001387606.1:c.563C>T |
| PTK2 transcript variant 69 | NM_001387585.1:c.902= | NM_001387585.1:c.902C>T |
| PTK2 transcript variant 79 | NM_001387605.1:c.563= | NM_001387605.1:c.563C>T |
| PTK2 transcript variant 126 | NM_001387652.1:c.563= | NM_001387652.1:c.563C>T |
| PTK2 transcript variant 78 | NM_001387604.1:c.-41= | NM_001387604.1:c.-41C>T |
| PTK2 transcript variant 77 | NM_001387603.1:c.563= | NM_001387603.1:c.563C>T |
| PTK2 transcript variant 76 | NM_001387592.1:c.-41= | NM_001387592.1:c.-41C>T |
| PTK2 transcript variant 75 | NM_001387591.1:c.563= | NM_001387591.1:c.563C>T |
| PTK2 transcript variant 68 | NM_001387584.1:c.563= | NM_001387584.1:c.563C>T |
| PTK2 transcript variant 138 | NR_170671.1:n.925= | NR_170671.1:n.925C>T |
| PTK2 transcript variant X18 | XM_024447202.2:c.1055= | XM_024447202.2:c.1055C>T |
| PTK2 transcript variant X5 | XM_024447202.1:c.1055= | XM_024447202.1:c.1055C>T |
| PTK2 transcript variant X19 | XM_024447203.2:c.1055= | XM_024447203.2:c.1055C>T |
| PTK2 transcript variant X6 | XM_024447203.1:c.1055= | XM_024447203.1:c.1055C>T |
| PTK2 transcript variant X29 | XM_024447207.2:c.1055= | XM_024447207.2:c.1055C>T |
| PTK2 transcript variant X13 | XM_024447207.1:c.1055= | XM_024447207.1:c.1055C>T |
| PTK2 transcript variant X37 | XM_047422048.1:c.599= | XM_047422048.1:c.599C>T |
| PTK2 transcript variant X4 | XM_047422019.1:c.1034= | XM_047422019.1:c.1034C>T |
| PTK2 transcript variant X6 | XM_047422021.1:c.1034= | XM_047422021.1:c.1034C>T |
| PTK2 transcript variant X13 | XM_047422028.1:c.1034= | XM_047422028.1:c.1034C>T |
| PTK2 transcript variant X16 | XM_047422031.1:c.1034= | XM_047422031.1:c.1034C>T |
| PTK2 transcript variant X21 | XM_047422034.1:c.1034= | XM_047422034.1:c.1034C>T |
| PTK2 transcript variant X23 | XM_047422036.1:c.1034= | XM_047422036.1:c.1034C>T |
| PTK2 transcript variant X24 | XM_047422037.1:c.1034= | XM_047422037.1:c.1034C>T |
| PTK2 transcript variant X5 | XM_047422020.1:c.1034= | XM_047422020.1:c.1034C>T |
| PTK2 transcript variant X1 | XM_047422016.1:c.1055= | XM_047422016.1:c.1055C>T |
| PTK2 transcript variant X2 | XM_047422017.1:c.1055= | XM_047422017.1:c.1055C>T |
| PTK2 transcript variant X3 | XM_047422018.1:c.1055= | XM_047422018.1:c.1055C>T |
| PTK2 transcript variant X7 | XM_047422022.1:c.1055= | XM_047422022.1:c.1055C>T |
| PTK2 transcript variant X38 | XM_047422049.1:c.902= | XM_047422049.1:c.902C>T |
| PTK2 transcript variant X8 | XM_047422023.1:c.1055= | XM_047422023.1:c.1055C>T |
| PTK2 transcript variant X9 | XM_047422024.1:c.1055= | XM_047422024.1:c.1055C>T |
| PTK2 transcript variant X10 | XM_047422025.1:c.1055= | XM_047422025.1:c.1055C>T |
| PTK2 transcript variant X26 | XM_047422039.1:c.902= | XM_047422039.1:c.902C>T |
| PTK2 transcript variant X41 | XM_047422053.1:c.902= | XM_047422053.1:c.902C>T |
| PTK2 transcript variant X12 | XM_047422027.1:c.1055= | XM_047422027.1:c.1055C>T |
| PTK2 transcript variant X11 | XM_047422026.1:c.1055= | XM_047422026.1:c.1055C>T |
| PTK2 transcript variant X14 | XM_047422029.1:c.1055= | XM_047422029.1:c.1055C>T |
| PTK2 transcript variant X15 | XM_047422030.1:c.1055= | XM_047422030.1:c.1055C>T |
| PTK2 transcript variant X33 | XM_047422044.1:c.941= | XM_047422044.1:c.941C>T |
| PTK2 transcript variant X20 | XM_047422033.1:c.1055= | XM_047422033.1:c.1055C>T |
| PTK2 transcript variant X22 | XM_047422035.1:c.1055= | XM_047422035.1:c.1055C>T |
| PTK2 transcript variant X25 | XM_047422038.1:c.1055= | XM_047422038.1:c.1055C>T |
| PTK2 transcript variant X27 | XM_047422040.1:c.1055= | XM_047422040.1:c.1055C>T |
| PTK2 transcript variant X28 | XM_047422041.1:c.1055= | XM_047422041.1:c.1055C>T |
| PTK2 transcript variant X31 | XM_047422043.1:c.1055= | XM_047422043.1:c.1055C>T |
| PTK2 transcript variant X39 | XM_047422050.1:c.563= | XM_047422050.1:c.563C>T |
| PTK2 transcript variant X40 | XM_047422052.1:c.563= | XM_047422052.1:c.563C>T |
| PTK2 transcript variant X42 | XM_047422054.1:c.563= | XM_047422054.1:c.563C>T |
| focal adhesion kinase 1 isoform 2 | NP_005598.3:p.Thr323= | NP_005598.3:p.Thr323Ile |
| focal adhesion kinase 1 isoform 1 | NP_722560.1:p.Thr301= | NP_722560.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 5 | NP_001339626.1:p.Thr345= | NP_001339626.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 6 | NP_001339627.1:p.Thr314= | NP_001339627.1:p.Thr314Ile |
| focal adhesion kinase 1 isoform 9 | NP_001339634.1:p.Thr314= | NP_001339634.1:p.Thr314Ile |
| focal adhesion kinase 1 isoform 12 | NP_001339641.1:p.Thr301= | NP_001339641.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 7 | NP_001339630.1:p.Thr301= | NP_001339630.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 7 | NP_001339632.1:p.Thr301= | NP_001339632.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 7 | NP_001339631.1:p.Thr301= | NP_001339631.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 8 | NP_001339633.1:p.Thr301= | NP_001339633.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 10 | NP_001339636.1:p.Thr301= | NP_001339636.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 10 | NP_001339638.1:p.Thr301= | NP_001339638.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 7 | NP_001339629.1:p.Thr301= | NP_001339629.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 7 | NP_001339628.1:p.Thr301= | NP_001339628.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 48 | NP_001339624.1:p.Thr301= | NP_001339624.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 3 | NP_001186578.1:p.Thr301= | NP_001186578.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 13 | NP_001339643.1:p.Thr301= | NP_001339643.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 16 | NP_001339646.1:p.Thr301= | NP_001339646.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 10 | NP_001339637.1:p.Thr301= | NP_001339637.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 10 | NP_001339639.1:p.Thr301= | NP_001339639.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 17 | NP_001339647.1:p.Thr301= | NP_001339647.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 20 | NP_001339654.1:p.Thr301= | NP_001339654.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 18 | NP_001339652.1:p.Thr301= | NP_001339652.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 17 | NP_001339648.1:p.Thr301= | NP_001339648.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 19 | NP_001339653.1:p.Thr301= | NP_001339653.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 26 | NP_001339660.1:p.Thr188= | NP_001339660.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 10 | NP_001339635.1:p.Thr301= | NP_001339635.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 11 | NP_001339640.1:p.Thr301= | NP_001339640.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 18 | NP_001339651.1:p.Thr301= | NP_001339651.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 13 | NP_001339642.1:p.Thr301= | NP_001339642.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 14 | NP_001339644.1:p.Thr301= | NP_001339644.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 31 | NP_001339666.1:p.Thr188= | NP_001339666.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 17 | NP_001339649.1:p.Thr301= | NP_001339649.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001339623.1:p.Thr301= | NP_001339623.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 18 | NP_001339650.1:p.Thr301= | NP_001339650.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 33 | NP_001339668.1:p.Thr188= | NP_001339668.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 4 | NP_001339625.1:p.Thr188= | NP_001339625.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 25 | NP_001339659.1:p.Thr188= | NP_001339659.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 46 | NP_001339664.1:p.Thr167= | NP_001339664.1:p.Thr167Ile |
| focal adhesion kinase 1 isoform 27 | NP_001339661.1:p.Thr188= | NP_001339661.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 30 | NP_001339665.1:p.Thr200= | NP_001339665.1:p.Thr200Ile |
| focal adhesion kinase 1 isoform 34 | NP_001339669.1:p.Thr188= | NP_001339669.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 28 | NP_001339662.1:p.Thr188= | NP_001339662.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 47 | NP_001339672.1:p.Thr188= | NP_001339672.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 22 | NP_001339656.1:p.Thr301= | NP_001339656.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 29 | NP_001339663.1:p.Thr188= | NP_001339663.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 4 | NP_001303271.1:p.Thr188= | NP_001303271.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 32 | NP_001339667.1:p.Thr188= | NP_001339667.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 35 | NP_001339670.1:p.Thr188= | NP_001339670.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 36 | NP_001339671.1:p.Thr167= | NP_001339671.1:p.Thr167Ile |
| focal adhesion kinase 1 isoform 41 | NP_001339677.1:p.Thr301= | NP_001339677.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374579.1:p.Thr345= | NP_001374579.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 63 | NP_001374578.1:p.Thr345= | NP_001374578.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374577.1:p.Thr345= | NP_001374577.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374576.1:p.Thr301= | NP_001374576.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374575.1:p.Thr345= | NP_001374575.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374574.1:p.Thr301= | NP_001374574.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 61 | NP_001374591.1:p.Thr345= | NP_001374591.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374590.1:p.Thr345= | NP_001374590.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 62 | NP_001374573.1:p.Thr314= | NP_001374573.1:p.Thr314Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374572.1:p.Thr345= | NP_001374572.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374571.1:p.Thr301= | NP_001374571.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 65 | NP_001374589.1:p.Thr345= | NP_001374589.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform 72 | NP_001374570.1:p.Thr314= | NP_001374570.1:p.Thr314Ile |
| focal adhesion kinase 1 isoform 64 | NP_001374569.1:p.Thr301= | NP_001374569.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 10 | NP_001374568.1:p.Thr301= | NP_001374568.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 17 | NP_001374588.1:p.Thr301= | NP_001374588.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 17 | NP_001374567.1:p.Thr301= | NP_001374567.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374566.1:p.Thr301= | NP_001374566.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374587.1:p.Thr301= | NP_001374587.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374565.1:p.Thr301= | NP_001374565.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 14 | NP_001374563.1:p.Thr301= | NP_001374563.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 68 | NP_001374562.1:p.Thr301= | NP_001374562.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 59 | NP_001374561.1:p.Thr301= | NP_001374561.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 52 | NP_001374559.1:p.Thr127= | NP_001374559.1:p.Thr127Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374557.1:p.Thr301= | NP_001374557.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374586.1:p.Thr301= | NP_001374586.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 60 | NP_001374556.1:p.Thr301= | NP_001374556.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 20 | NP_001374554.1:p.Thr301= | NP_001374554.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374552.1:p.Thr188= | NP_001374552.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 16 | NP_001374551.1:p.Thr301= | NP_001374551.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 20 | NP_001374585.1:p.Thr301= | NP_001374585.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374516.1:p.Thr301= | NP_001374516.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 4 | NP_001374549.1:p.Thr188= | NP_001374549.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374547.1:p.Thr188= | NP_001374547.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374584.1:p.Thr301= | NP_001374584.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 59 | NP_001374543.1:p.Thr301= | NP_001374543.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 35 | NP_001374542.1:p.Thr188= | NP_001374542.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374541.1:p.Thr188= | NP_001374541.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 57 | NP_001374540.1:p.Thr188= | NP_001374540.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 1 | NP_001374515.1:p.Thr301= | NP_001374515.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 52 | NP_001374539.1:p.Thr127= | NP_001374539.1:p.Thr127Ile |
| focal adhesion kinase 1 isoform 35 | NP_001374538.1:p.Thr188= | NP_001374538.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374537.1:p.Thr188= | NP_001374537.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374583.1:p.Thr188= | NP_001374583.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 58 | NP_001374536.1:p.Thr188= | NP_001374536.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 33 | NP_001374535.1:p.Thr188= | NP_001374535.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 59 | NP_001374514.1:p.Thr301= | NP_001374514.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374534.1:p.Thr188= | NP_001374534.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374581.1:p.Thr188= | NP_001374581.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 55 | NP_001374532.1:p.Thr188= | NP_001374532.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 54 | NP_001374520.1:p.Thr188= | NP_001374520.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform 56 | NP_001374513.1:p.Thr188= | NP_001374513.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform X16 | XP_024302970.1:p.Thr352= | XP_024302970.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X17 | XP_024302971.1:p.Thr352= | XP_024302971.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X27 | XP_024302975.1:p.Thr352= | XP_024302975.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X35 | XP_047278004.1:p.Thr200= | XP_047278004.1:p.Thr200Ile |
| focal adhesion kinase 1 isoform X4 | XP_047277975.1:p.Thr345= | XP_047277975.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X4 | XP_047277977.1:p.Thr345= | XP_047277977.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X11 | XP_047277984.1:p.Thr345= | XP_047277984.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X14 | XP_047277987.1:p.Thr345= | XP_047277987.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X19 | XP_047277990.1:p.Thr345= | XP_047277990.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X21 | XP_047277992.1:p.Thr345= | XP_047277992.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X22 | XP_047277993.1:p.Thr345= | XP_047277993.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X4 | XP_047277976.1:p.Thr345= | XP_047277976.1:p.Thr345Ile |
| focal adhesion kinase 1 isoform X1 | XP_047277972.1:p.Thr352= | XP_047277972.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X2 | XP_047277973.1:p.Thr352= | XP_047277973.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X3 | XP_047277974.1:p.Thr352= | XP_047277974.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X5 | XP_047277978.1:p.Thr352= | XP_047277978.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X24 | XP_047278005.1:p.Thr301= | XP_047278005.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform X6 | XP_047277979.1:p.Thr352= | XP_047277979.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X7 | XP_047277980.1:p.Thr352= | XP_047277980.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X8 | XP_047277981.1:p.Thr352= | XP_047277981.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X24 | XP_047277995.1:p.Thr301= | XP_047277995.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform X24 | XP_047278009.1:p.Thr301= | XP_047278009.1:p.Thr301Ile |
| focal adhesion kinase 1 isoform X10 | XP_047277983.1:p.Thr352= | XP_047277983.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X9 | XP_047277982.1:p.Thr352= | XP_047277982.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X12 | XP_047277985.1:p.Thr352= | XP_047277985.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X13 | XP_047277986.1:p.Thr352= | XP_047277986.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X31 | XP_047278000.1:p.Thr314= | XP_047278000.1:p.Thr314Ile |
| focal adhesion kinase 1 isoform X18 | XP_047277989.1:p.Thr352= | XP_047277989.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X20 | XP_047277991.1:p.Thr352= | XP_047277991.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X23 | XP_047277994.1:p.Thr352= | XP_047277994.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X25 | XP_047277996.1:p.Thr352= | XP_047277996.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X26 | XP_047277997.1:p.Thr352= | XP_047277997.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X29 | XP_047277999.1:p.Thr352= | XP_047277999.1:p.Thr352Ile |
| focal adhesion kinase 1 isoform X36 | XP_047278006.1:p.Thr188= | XP_047278006.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform X37 | XP_047278008.1:p.Thr188= | XP_047278008.1:p.Thr188Ile |
| focal adhesion kinase 1 isoform X38 | XP_047278010.1:p.Thr188= | XP_047278010.1:p.Thr188Ile |
| PTK2 transcript variant 27 | NM_001352716.2:c.868-3040= | NM_001352716.2:c.868-3040C>T |
| PTK2 transcript variant 37 | NM_001352726.2:c.868-3040= | NM_001352726.2:c.868-3040C>T |
| PTK2 transcript variant 39 | NM_001352728.2:c.868-3040= | NM_001352728.2:c.868-3040C>T |
| PTK2 transcript variant 40 | NM_001352729.2:c.868-3040= | NM_001352729.2:c.868-3040C>T |
| PTK2 transcript variant 55 | NM_001352744.2:c.529-3040= | NM_001352744.2:c.529-3040C>T |
| PTK2 transcript variant 56 | NM_001352745.2:c.529-3040= | NM_001352745.2:c.529-3040C>T |
| PTK2 transcript variant 57 | NM_001352746.2:c.466-3040= | NM_001352746.2:c.466-3040C>T |
| PTK2 transcript variant 74 | NM_001387590.1:c.529-3040= | NM_001387590.1:c.529-3040C>T |
| PTK2 transcript variant 89 | NM_001387615.1:c.868-3040= | NM_001387615.1:c.868-3040C>T |
| PTK2 transcript variant 93 | NM_001387619.1:c.868-3040= | NM_001387619.1:c.868-3040C>T |
| PTK2 transcript variant 98 | NM_001387624.1:c.868-3040= | NM_001387624.1:c.868-3040C>T |
| PTK2 transcript variant 105 | NM_001387631.1:c.868-3040= | NM_001387631.1:c.868-3040C>T |
| PTK2 transcript variant 109 | NM_001387635.1:c.529-3040= | NM_001387635.1:c.529-3040C>T |
| PTK2 transcript variant 127 | NM_001387653.1:c.868-3040= | NM_001387653.1:c.868-3040C>T |
| PTK2 transcript variant X7 | XM_005251009.1:c.1000-3040= | XM_005251009.1:c.1000-3040C>T |
| PTK2 transcript variant X30 | XM_024447208.2:c.1021-3040= | XM_024447208.2:c.1021-3040C>T |
| PTK2 transcript variant X32 | XM_024447209.2:c.1021-3040= | XM_024447209.2:c.1021-3040C>T |
| PTK2 transcript variant X17 | XM_047422032.1:c.1021-3040= | XM_047422032.1:c.1021-3040C>T |
| PTK2 transcript variant X34 | XM_047422045.1:c.1021-3040= | XM_047422045.1:c.1021-3040C>T |
| PTK2 transcript variant X35 | XM_047422046.1:c.1021-3040= | XM_047422046.1:c.1021-3040C>T |
| PTK2 transcript variant X36 | XM_047422047.1:c.1000-3040= | XM_047422047.1:c.1000-3040C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss4195147388 | Apr 28, 2021 (155) |
| 2 | TOPMED | ss4807655470 | Apr 28, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000008.11 - 140803616 | Apr 28, 2021 (155) |
| 4 | TopMed | NC_000008.11 - 140803616 | Apr 28, 2021 (155) |
| 5 | ALFA | NC_000008.11 - 140803616 | Apr 28, 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 rs1482317412
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.