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.
rs765615419
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:38428408 (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
- T>C / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000142 (35/246956, GnomAD_exome)G=0.000007 (1/140266, GnomAD)G=0.000139 (16/115332, ExAC) (+ 1 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- FGFR1 : 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 23514 | T=0.99987 | C=0.00000, G=0.00013 |
| European | Sub | 15752 | T=0.99981 | C=0.00000, G=0.00019 |
| African | Sub | 3916 | T=1.0000 | C=0.0000, G=0.0000 |
| African Others | Sub | 122 | T=1.000 | C=0.000, G=0.000 |
| African American | Sub | 3794 | T=1.0000 | C=0.0000, G=0.0000 |
| Asian | Sub | 168 | T=1.000 | C=0.000, G=0.000 |
| East Asian | Sub | 112 | T=1.000 | C=0.000, G=0.000 |
| Other Asian | Sub | 56 | T=1.00 | C=0.00, G=0.00 |
| Latin American 1 | Sub | 146 | T=1.000 | C=0.000, G=0.000 |
| Latin American 2 | Sub | 610 | T=1.000 | C=0.000, G=0.000 |
| South Asian | Sub | 98 | T=1.00 | C=0.00, G=0.00 |
| Other | Sub | 2824 | T=1.0000 | C=0.0000, G=0.0000 |
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 246956 | T=0.999858 | G=0.000142 |
| gnomAD - Exomes | European | Sub | 132346 | T=0.999940 | G=0.000060 |
| gnomAD - Exomes | Asian | Sub | 48540 | T=0.99944 | G=0.00056 |
| gnomAD - Exomes | American | Sub | 34500 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 15468 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10058 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6044 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140266 | T=0.999993 | G=0.000007 |
| gnomAD - Genomes | European | Sub | 75950 | T=1.00000 | G=0.00000 |
| gnomAD - Genomes | African | Sub | 42052 | T=1.00000 | G=0.00000 |
| gnomAD - Genomes | American | Sub | 13656 | T=0.99993 | G=0.00007 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | T=1.0000 | G=0.0000 |
| ExAC | Global | Study-wide | 115332 | T=0.999861 | G=0.000139 |
| ExAC | Europe | Sub | 70420 | T=0.99996 | G=0.00004 |
| ExAC | Asian | Sub | 23998 | T=0.99946 | G=0.00054 |
| ExAC | American | Sub | 10822 | T=1.00000 | G=0.00000 |
| ExAC | African | Sub | 9220 | T=1.0000 | G=0.0000 |
| ExAC | Other | Sub | 872 | T=1.000 | G=0.000 |
| Allele Frequency Aggregator | Total | Global | 23514 | T=0.99987 | C=0.00000, G=0.00013 |
| Allele Frequency Aggregator | European | Sub | 15752 | T=0.99981 | C=0.00000, G=0.00019 |
| Allele Frequency Aggregator | African | Sub | 3916 | T=1.0000 | C=0.0000, G=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 2824 | T=1.0000 | C=0.0000, G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | T=1.000 | C=0.000, G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 168 | T=1.000 | C=0.000, G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | T=1.000 | C=0.000, G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=1.00 | C=0.00, 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 8 | NC_000008.11:g.38428408T>C |
| GRCh38.p14 chr 8 | NC_000008.11:g.38428408T>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.38285926T>C |
| GRCh37.p13 chr 8 | NC_000008.10:g.38285926T>G |
| FGFR1 RefSeqGene (LRG_993) | NG_007729.1:g.45427A>G |
| FGFR1 RefSeqGene (LRG_993) | NG_007729.1:g.45427A>C |
Gene: FGFR1, fibroblast growth factor receptor 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FGFR1 transcript variant 12 | NM_001174065.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_001167536.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 12 | NM_001174065.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_001167536.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 2 | NM_015850.4:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_056934.2:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 2 | NM_015850.4:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_056934.2:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 3 | NM_023105.3:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_075593.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 3 | NM_023105.3:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_075593.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 10 | NM_001174063.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 10 precursor | NP_001167534.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 10 | NM_001174063.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 10 precursor | NP_001167534.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 11 | NM_001174064.2:c.362A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 11 precursor | NP_001167535.1:p.Asp121Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 11 | NM_001174064.2:c.362A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 11 precursor | NP_001167535.1:p.Asp121Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 16 | NM_001354368.2:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 16 precursor | NP_001341297.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 16 | NM_001354368.2:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 16 precursor | NP_001341297.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 13 | NM_001174066.2:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_001167537.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 13 | NM_001174066.2:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_001167537.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 4 | NM_023106.3:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 4 precursor | NP_075594.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 4 | NM_023106.3:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 4 precursor | NP_075594.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 1 | NM_023110.3:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 1 precursor | NP_075598.2:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 1 | NM_023110.3:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 1 precursor | NP_075598.2:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 18 | NM_001354370.2:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 18 precursor | NP_001341299.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 18 | NM_001354370.2:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 18 precursor | NP_001341299.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 14 | NM_001174067.2:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 14 precursor | NP_001167538.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 14 | NM_001174067.2:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 14 precursor | NP_001167538.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 15 | NM_001354367.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 15 precursor | NP_001341296.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 15 | NM_001354367.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 15 precursor | NP_001341296.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant 17 | NM_001354369.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 17 precursor | NP_001341298.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant 17 | NM_001354369.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform 17 precursor | NP_001341298.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X29 | XM_047421576.1:c.-59= | N/A | 5 Prime UTR Variant |
| FGFR1 transcript variant X21 | XM_006716311.1:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716374.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X21 | XM_006716311.1:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716374.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X24 | XM_011544451.1:c.95A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X21 | XP_011542753.1:p.Asp32Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X24 | XM_011544451.1:c.95A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X21 | XP_011542753.1:p.Asp32Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X11 | XM_024447097.1:c.362A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X10 | XP_024302865.1:p.Asp121Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X11 | XM_024447097.1:c.362A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X10 | XP_024302865.1:p.Asp121Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X22 | XM_006716312.2:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716375.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X22 | XM_006716312.2:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716375.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X1 | XM_011544445.3:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X1 | XP_011542747.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X1 | XM_011544445.3:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X1 | XP_011542747.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X2 | XM_011544444.2:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X2 | XP_011542746.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X2 | XM_011544444.2:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X2 | XP_011542746.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X3 | XM_017013219.2:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X3 | XP_016868708.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X3 | XM_017013219.2:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X3 | XP_016868708.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X4 | XM_011544446.3:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X4 | XP_011542748.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X4 | XM_011544446.3:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X4 | XP_011542748.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X5 | XM_011544447.3:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X5 | XP_011542749.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X5 | XM_011544447.3:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X5 | XP_011542749.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X6 | XM_017013220.2:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X6 | XP_016868709.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X6 | XM_017013220.2:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X6 | XP_016868709.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X7 | XM_006716304.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716367.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X7 | XM_006716304.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716367.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X8 | XM_017013221.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_016868710.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X8 | XM_017013221.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_016868710.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X9 | XM_006716307.2:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X8 | XP_006716370.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X9 | XM_006716307.2:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X8 | XP_006716370.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X10 | XM_047421569.1:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X9 | XP_047277525.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X10 | XM_047421569.1:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X9 | XP_047277525.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X12 | XM_047421570.1:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X11 | XP_047277526.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X12 | XM_047421570.1:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X11 | XP_047277526.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X13 | XM_047421571.1:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X12 | XP_047277527.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X13 | XM_047421571.1:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X12 | XP_047277527.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X13 | XM_017013225.3:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X12 | XP_016868714.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X13 | XM_017013225.3:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X12 | XP_016868714.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X14 | XM_006716303.4:c.386A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716366.1:p.Asp129Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X14 | XM_006716303.4:c.386A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716366.1:p.Asp129Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X15 | XM_011544448.2:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X13 | XP_011542750.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X15 | XM_011544448.2:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X13 | XP_011542750.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X16 | XM_011544449.2:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X14 | XP_011542751.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X16 | XM_011544449.2:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X14 | XP_011542751.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X17 | XM_047421572.1:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X15 | XP_047277528.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X17 | XM_047421572.1:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X15 | XP_047277528.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X18 | XM_011544450.3:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X16 | XP_011542752.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X18 | XM_011544450.3:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X16 | XP_011542752.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X19 | XM_017013226.2:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X17 | XP_016868715.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X19 | XM_017013226.2:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X17 | XP_016868715.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X20 | XM_017013227.2:c.218A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X18 | XP_016868716.1:p.Asp73Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X20 | XM_017013227.2:c.218A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X18 | XP_016868716.1:p.Asp73Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X23 | XM_006716314.3:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X20 | XP_006716377.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X23 | XM_006716314.3:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X20 | XP_006716377.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X25 | XM_047421573.1:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X22 | XP_047277529.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X25 | XM_047421573.1:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X22 | XP_047277529.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X26 | XM_047421574.1:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X23 | XP_047277530.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X26 | XM_047421574.1:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X23 | XP_047277530.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X27 | XM_006716310.4:c.119A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716373.1:p.Asp40Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X27 | XM_006716310.4:c.119A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716373.1:p.Asp40Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X28 | XM_047421575.1:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X24 | XP_047277531.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X28 | XM_047421575.1:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X24 | XP_047277531.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X30 | XM_017013231.2:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X26 | XP_016868720.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X30 | XM_017013231.2:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X26 | XP_016868720.1:p.Asp162Ala | D (Asp) > A (Ala) | Missense Variant |
| FGFR1 transcript variant X31 | XM_011544452.3:c.485A>G | D [GAT] > G [GGT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X27 | XP_011542754.1:p.Asp162Gly | D (Asp) > G (Gly) | Missense Variant |
| FGFR1 transcript variant X31 | XM_011544452.3:c.485A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| fibroblast growth factor receptor 1 isoform X27 | XP_011542754.1:p.Asp162Ala | D (Asp) > A (Ala) | 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.
Allele: G (allele ID:
444277
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000521203.2 | not provided | Uncertain-Significance |
| RCV002060267.3 | Hypogonadotropic hypogonadism 2 with or without anosmia,Pfeiffer syndrome | Likely-Benign |
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 | T= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.38428408= | NC_000008.11:g.38428408T>C | NC_000008.11:g.38428408T>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.38285926= | NC_000008.10:g.38285926T>C | NC_000008.10:g.38285926T>G |
| FGFR1 RefSeqGene (LRG_993) | NG_007729.1:g.45427= | NG_007729.1:g.45427A>G | NG_007729.1:g.45427A>C |
| FGFR1 transcript variant 2 | NM_015850.4:c.386= | NM_015850.4:c.386A>G | NM_015850.4:c.386A>C |
| FGFR1 transcript variant 2 | NM_015850.3:c.386= | NM_015850.3:c.386A>G | NM_015850.3:c.386A>C |
| FGFR1 transcript variant 1 | NM_023110.3:c.386= | NM_023110.3:c.386A>G | NM_023110.3:c.386A>C |
| FGFR1 transcript variant 1 | NM_023110.2:c.386= | NM_023110.2:c.386A>G | NM_023110.2:c.386A>C |
| FGFR1 transcript variant 3 | NM_023105.3:c.119= | NM_023105.3:c.119A>G | NM_023105.3:c.119A>C |
| FGFR1 transcript variant 3 | NM_023105.2:c.119= | NM_023105.2:c.119A>G | NM_023105.2:c.119A>C |
| FGFR1 transcript variant 4 | NM_023106.3:c.119= | NM_023106.3:c.119A>G | NM_023106.3:c.119A>C |
| FGFR1 transcript variant 4 | NM_023106.2:c.119= | NM_023106.2:c.119A>G | NM_023106.2:c.119A>C |
| FGFR1 transcript variant 11 | NM_001174064.2:c.362= | NM_001174064.2:c.362A>G | NM_001174064.2:c.362A>C |
| FGFR1 transcript variant 11 | NM_001174064.1:c.362= | NM_001174064.1:c.362A>G | NM_001174064.1:c.362A>C |
| FGFR1 transcript variant 10 | NM_001174063.2:c.386= | NM_001174063.2:c.386A>G | NM_001174063.2:c.386A>C |
| FGFR1 transcript variant 10 | NM_001174063.1:c.386= | NM_001174063.1:c.386A>G | NM_001174063.1:c.386A>C |
| FGFR1 transcript variant 16 | NM_001354368.2:c.119= | NM_001354368.2:c.119A>G | NM_001354368.2:c.119A>C |
| FGFR1 transcript variant 16 | NM_001354368.1:c.119= | NM_001354368.1:c.119A>G | NM_001354368.1:c.119A>C |
| FGFR1 transcript variant 14 | NM_001174067.2:c.485= | NM_001174067.2:c.485A>G | NM_001174067.2:c.485A>C |
| FGFR1 transcript variant 14 | NM_001174067.1:c.485= | NM_001174067.1:c.485A>G | NM_001174067.1:c.485A>C |
| FGFR1 transcript variant 12 | NM_001174065.2:c.386= | NM_001174065.2:c.386A>G | NM_001174065.2:c.386A>C |
| FGFR1 transcript variant 12 | NM_001174065.1:c.386= | NM_001174065.1:c.386A>G | NM_001174065.1:c.386A>C |
| FGFR1 transcript variant 13 | NM_001174066.2:c.119= | NM_001174066.2:c.119A>G | NM_001174066.2:c.119A>C |
| FGFR1 transcript variant 13 | NM_001174066.1:c.119= | NM_001174066.1:c.119A>G | NM_001174066.1:c.119A>C |
| FGFR1 transcript variant 15 | NM_001354367.2:c.386= | NM_001354367.2:c.386A>G | NM_001354367.2:c.386A>C |
| FGFR1 transcript variant 15 | NM_001354367.1:c.386= | NM_001354367.1:c.386A>G | NM_001354367.1:c.386A>C |
| FGFR1 transcript variant 18 | NM_001354370.2:c.119= | NM_001354370.2:c.119A>G | NM_001354370.2:c.119A>C |
| FGFR1 transcript variant 18 | NM_001354370.1:c.119= | NM_001354370.1:c.119A>G | NM_001354370.1:c.119A>C |
| FGFR1 transcript variant 17 | NM_001354369.2:c.386= | NM_001354369.2:c.386A>G | NM_001354369.2:c.386A>C |
| FGFR1 transcript variant 17 | NM_001354369.1:c.386= | NM_001354369.1:c.386A>G | NM_001354369.1:c.386A>C |
| FGFR1 transcript variant 19 | NM_001410922.1:c.386= | NM_001410922.1:c.386A>G | NM_001410922.1:c.386A>C |
| FGFR1 transcript variant X14 | XM_006716303.4:c.386= | XM_006716303.4:c.386A>G | XM_006716303.4:c.386A>C |
| FGFR1 transcript variant X8 | XM_006716303.3:c.386= | XM_006716303.3:c.386A>G | XM_006716303.3:c.386A>C |
| FGFR1 transcript variant X8 | XM_006716303.2:c.386= | XM_006716303.2:c.386A>G | XM_006716303.2:c.386A>C |
| FGFR1 transcript variant X1 | XM_006716303.1:c.386= | XM_006716303.1:c.386A>G | XM_006716303.1:c.386A>C |
| FGFR1 transcript variant X27 | XM_006716310.4:c.119= | XM_006716310.4:c.119A>G | XM_006716310.4:c.119A>C |
| FGFR1 transcript variant X21 | XM_006716310.3:c.119= | XM_006716310.3:c.119A>G | XM_006716310.3:c.119A>C |
| FGFR1 transcript variant X23 | XM_006716310.2:c.119= | XM_006716310.2:c.119A>G | XM_006716310.2:c.119A>C |
| FGFR1 transcript variant X8 | XM_006716310.1:c.119= | XM_006716310.1:c.119A>G | XM_006716310.1:c.119A>C |
| FGFR1 transcript variant X13 | XM_017013225.3:c.386= | XM_017013225.3:c.386A>G | XM_017013225.3:c.386A>C |
| FGFR1 transcript variant X15 | XM_017013225.2:c.386= | XM_017013225.2:c.386A>G | XM_017013225.2:c.386A>C |
| FGFR1 transcript variant X17 | XM_017013225.1:c.386= | XM_017013225.1:c.386A>G | XM_017013225.1:c.386A>C |
| FGFR1 transcript variant X4 | XM_011544446.3:c.485= | XM_011544446.3:c.485A>G | XM_011544446.3:c.485A>C |
| FGFR1 transcript variant X5 | XM_011544446.2:c.485= | XM_011544446.2:c.485A>G | XM_011544446.2:c.485A>C |
| FGFR1 transcript variant X4 | XM_011544446.1:c.485= | XM_011544446.1:c.485A>G | XM_011544446.1:c.485A>C |
| FGFR1 transcript variant X5 | XM_011544447.3:c.485= | XM_011544447.3:c.485A>G | XM_011544447.3:c.485A>C |
| FGFR1 transcript variant X6 | XM_011544447.2:c.485= | XM_011544447.2:c.485A>G | XM_011544447.2:c.485A>C |
| FGFR1 transcript variant X5 | XM_011544447.1:c.485= | XM_011544447.1:c.485A>G | XM_011544447.1:c.485A>C |
| FGFR1 transcript variant X18 | XM_011544450.3:c.218= | XM_011544450.3:c.218A>G | XM_011544450.3:c.218A>C |
| FGFR1 transcript variant X18 | XM_011544450.2:c.218= | XM_011544450.2:c.218A>G | XM_011544450.2:c.218A>C |
| FGFR1 transcript variant X14 | XM_011544450.1:c.218= | XM_011544450.1:c.218A>G | XM_011544450.1:c.218A>C |
| FGFR1 transcript variant X1 | XM_011544445.3:c.485= | XM_011544445.3:c.485A>G | XM_011544445.3:c.485A>C |
| FGFR1 transcript variant X3 | XM_011544445.2:c.485= | XM_011544445.2:c.485A>G | XM_011544445.2:c.485A>C |
| FGFR1 transcript variant X3 | XM_011544445.1:c.485= | XM_011544445.1:c.485A>G | XM_011544445.1:c.485A>C |
| FGFR1 transcript variant X23 | XM_006716314.3:c.119= | XM_006716314.3:c.119A>G | XM_006716314.3:c.119A>C |
| FGFR1 transcript variant X24 | XM_006716314.2:c.119= | XM_006716314.2:c.119A>G | XM_006716314.2:c.119A>C |
| FGFR1 transcript variant X27 | XM_006716314.1:c.119= | XM_006716314.1:c.119A>G | XM_006716314.1:c.119A>C |
| FGFR1 transcript variant X31 | XM_011544452.3:c.485= | XM_011544452.3:c.485A>G | XM_011544452.3:c.485A>C |
| FGFR1 transcript variant X31 | XM_011544452.2:c.485= | XM_011544452.2:c.485A>G | XM_011544452.2:c.485A>C |
| FGFR1 transcript variant X21 | XM_011544452.1:c.485= | XM_011544452.1:c.485A>G | XM_011544452.1:c.485A>C |
| FGFR1 transcript variant 9 | NM_023111.2:c.386= | NM_023111.2:c.386A>G | NM_023111.2:c.386A>C |
| FGFR1 transcript variant X6 | XM_017013220.2:c.485= | XM_017013220.2:c.485A>G | XM_017013220.2:c.485A>C |
| FGFR1 transcript variant X7 | XM_017013220.1:c.485= | XM_017013220.1:c.485A>G | XM_017013220.1:c.485A>C |
| FGFR1 transcript variant X19 | XM_017013226.2:c.218= | XM_017013226.2:c.218A>G | XM_017013226.2:c.218A>C |
| FGFR1 transcript variant X19 | XM_017013226.1:c.218= | XM_017013226.1:c.218A>G | XM_017013226.1:c.218A>C |
| FGFR1 transcript variant X20 | XM_017013227.2:c.218= | XM_017013227.2:c.218A>G | XM_017013227.2:c.218A>C |
| FGFR1 transcript variant X20 | XM_017013227.1:c.218= | XM_017013227.1:c.218A>G | XM_017013227.1:c.218A>C |
| FGFR1 transcript variant 1 | NM_000604.2:c.386= | NM_000604.2:c.386A>G | NM_000604.2:c.386A>C |
| FGFR1 transcript variant X8 | XM_017013221.2:c.386= | XM_017013221.2:c.386A>G | XM_017013221.2:c.386A>C |
| FGFR1 transcript variant X10 | XM_017013221.1:c.386= | XM_017013221.1:c.386A>G | XM_017013221.1:c.386A>C |
| FGFR1 transcript variant X2 | XM_011544444.2:c.485= | XM_011544444.2:c.485A>G | XM_011544444.2:c.485A>C |
| FGFR1 transcript variant X2 | XM_011544444.1:c.485= | XM_011544444.1:c.485A>G | XM_011544444.1:c.485A>C |
| FGFR1 transcript variant X3 | XM_017013219.2:c.485= | XM_017013219.2:c.485A>G | XM_017013219.2:c.485A>C |
| FGFR1 transcript variant X4 | XM_017013219.1:c.485= | XM_017013219.1:c.485A>G | XM_017013219.1:c.485A>C |
| FGFR1 transcript variant X7 | XM_006716304.2:c.386= | XM_006716304.2:c.386A>G | XM_006716304.2:c.386A>C |
| FGFR1 transcript variant X9 | XM_006716304.1:c.386= | XM_006716304.1:c.386A>G | XM_006716304.1:c.386A>C |
| FGFR1 transcript variant X9 | XM_006716307.2:c.386= | XM_006716307.2:c.386A>G | XM_006716307.2:c.386A>C |
| FGFR1 transcript variant X11 | XM_006716307.1:c.386= | XM_006716307.1:c.386A>G | XM_006716307.1:c.386A>C |
| FGFR1 transcript variant X22 | XM_006716312.2:c.119= | XM_006716312.2:c.119A>G | XM_006716312.2:c.119A>C |
| FGFR1 transcript variant X25 | XM_006716312.1:c.119= | XM_006716312.1:c.119A>G | XM_006716312.1:c.119A>C |
| FGFR1 transcript variant X15 | XM_011544448.2:c.218= | XM_011544448.2:c.218A>G | XM_011544448.2:c.218A>C |
| FGFR1 transcript variant X16 | XM_011544448.1:c.218= | XM_011544448.1:c.218A>G | XM_011544448.1:c.218A>C |
| FGFR1 transcript variant X16 | XM_011544449.2:c.218= | XM_011544449.2:c.218A>G | XM_011544449.2:c.218A>C |
| FGFR1 transcript variant X17 | XM_011544449.1:c.218= | XM_011544449.1:c.218A>G | XM_011544449.1:c.218A>C |
| FGFR1 transcript variant 5 | NM_023107.2:c.119= | NM_023107.2:c.119A>G | NM_023107.2:c.119A>C |
| FGFR1 transcript variant 6 | NM_023108.2:c.119= | NM_023108.2:c.119A>G | NM_023108.2:c.119A>C |
| FGFR1 transcript variant X30 | XM_017013231.2:c.485= | XM_017013231.2:c.485A>G | XM_017013231.2:c.485A>C |
| FGFR1 transcript variant X30 | XM_017013231.1:c.485= | XM_017013231.1:c.485A>G | XM_017013231.1:c.485A>C |
| FGFR1 transcript variant X12 | XM_047421570.1:c.386= | XM_047421570.1:c.386A>G | XM_047421570.1:c.386A>C |
| FGFR1 transcript variant X13 | XM_047421571.1:c.386= | XM_047421571.1:c.386A>G | XM_047421571.1:c.386A>C |
| FGFR1 transcript variant X25 | XM_047421573.1:c.119= | XM_047421573.1:c.119A>G | XM_047421573.1:c.119A>C |
| FGFR1 transcript variant X26 | XM_047421574.1:c.119= | XM_047421574.1:c.119A>G | XM_047421574.1:c.119A>C |
| FGFR1 transcript variant X29 | XM_047421576.1:c.-59= | XM_047421576.1:c.-59A>G | XM_047421576.1:c.-59A>C |
| FGFR1 transcript variant X10 | XM_047421569.1:c.386= | XM_047421569.1:c.386A>G | XM_047421569.1:c.386A>C |
| FGFR1 transcript variant 7 | NM_023109.1:c.386= | NM_023109.1:c.386A>G | NM_023109.1:c.386A>C |
| FGFR1 transcript variant 9 | NM_023111.1:c.386= | NM_023111.1:c.386A>G | NM_023111.1:c.386A>C |
| FGFR1 transcript variant X11 | XM_024447097.1:c.362= | XM_024447097.1:c.362A>G | XM_024447097.1:c.362A>C |
| FGFR1 transcript variant X17 | XM_047421572.1:c.218= | XM_047421572.1:c.218A>G | XM_047421572.1:c.218A>C |
| FGFR1 transcript variant X21 | XM_006716311.1:c.119= | XM_006716311.1:c.119A>G | XM_006716311.1:c.119A>C |
| FGFR1 transcript variant X24 | XM_011544451.1:c.95= | XM_011544451.1:c.95A>G | XM_011544451.1:c.95A>C |
| FGFR1 transcript variant 5 | NM_023107.1:c.119= | NM_023107.1:c.119A>G | NM_023107.1:c.119A>C |
| FGFR1 transcript variant 6 | NM_023108.1:c.119= | NM_023108.1:c.119A>G | NM_023108.1:c.119A>C |
| FGFR1 transcript | NM_000604.1:c.386= | NM_000604.1:c.386A>G | NM_000604.1:c.386A>C |
| FGFR1 transcript variant X28 | XM_047421575.1:c.485= | XM_047421575.1:c.485A>G | XM_047421575.1:c.485A>C |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_056934.2:p.Asp129= | NP_056934.2:p.Asp129Gly | NP_056934.2:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform 1 precursor | NP_075598.2:p.Asp129= | NP_075598.2:p.Asp129Gly | NP_075598.2:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_075593.1:p.Asp40= | NP_075593.1:p.Asp40Gly | NP_075593.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform 4 precursor | NP_075594.1:p.Asp40= | NP_075594.1:p.Asp40Gly | NP_075594.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform 11 precursor | NP_001167535.1:p.Asp121= | NP_001167535.1:p.Asp121Gly | NP_001167535.1:p.Asp121Ala |
| fibroblast growth factor receptor 1 isoform 10 precursor | NP_001167534.1:p.Asp129= | NP_001167534.1:p.Asp129Gly | NP_001167534.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform 16 precursor | NP_001341297.1:p.Asp40= | NP_001341297.1:p.Asp40Gly | NP_001341297.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform 14 precursor | NP_001167538.1:p.Asp162= | NP_001167538.1:p.Asp162Gly | NP_001167538.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform 2 precursor | NP_001167536.1:p.Asp129= | NP_001167536.1:p.Asp129Gly | NP_001167536.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform 3 precursor | NP_001167537.1:p.Asp40= | NP_001167537.1:p.Asp40Gly | NP_001167537.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform 15 precursor | NP_001341296.1:p.Asp129= | NP_001341296.1:p.Asp129Gly | NP_001341296.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform 18 precursor | NP_001341299.1:p.Asp40= | NP_001341299.1:p.Asp40Gly | NP_001341299.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform 17 precursor | NP_001341298.1:p.Asp129= | NP_001341298.1:p.Asp129Gly | NP_001341298.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716366.1:p.Asp129= | XP_006716366.1:p.Asp129Gly | XP_006716366.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716373.1:p.Asp40= | XP_006716373.1:p.Asp40Gly | XP_006716373.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X12 | XP_016868714.1:p.Asp129= | XP_016868714.1:p.Asp129Gly | XP_016868714.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X4 | XP_011542748.1:p.Asp162= | XP_011542748.1:p.Asp162Gly | XP_011542748.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X5 | XP_011542749.1:p.Asp162= | XP_011542749.1:p.Asp162Gly | XP_011542749.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X16 | XP_011542752.1:p.Asp73= | XP_011542752.1:p.Asp73Gly | XP_011542752.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X1 | XP_011542747.1:p.Asp162= | XP_011542747.1:p.Asp162Gly | XP_011542747.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X20 | XP_006716377.1:p.Asp40= | XP_006716377.1:p.Asp40Gly | XP_006716377.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X27 | XP_011542754.1:p.Asp162= | XP_011542754.1:p.Asp162Gly | XP_011542754.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X6 | XP_016868709.1:p.Asp162= | XP_016868709.1:p.Asp162Gly | XP_016868709.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X17 | XP_016868715.1:p.Asp73= | XP_016868715.1:p.Asp73Gly | XP_016868715.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X18 | XP_016868716.1:p.Asp73= | XP_016868716.1:p.Asp73Gly | XP_016868716.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X7 | XP_016868710.1:p.Asp129= | XP_016868710.1:p.Asp129Gly | XP_016868710.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X2 | XP_011542746.1:p.Asp162= | XP_011542746.1:p.Asp162Gly | XP_011542746.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X3 | XP_016868708.1:p.Asp162= | XP_016868708.1:p.Asp162Gly | XP_016868708.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X7 | XP_006716367.1:p.Asp129= | XP_006716367.1:p.Asp129Gly | XP_006716367.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X8 | XP_006716370.1:p.Asp129= | XP_006716370.1:p.Asp129Gly | XP_006716370.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716375.1:p.Asp40= | XP_006716375.1:p.Asp40Gly | XP_006716375.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X13 | XP_011542750.1:p.Asp73= | XP_011542750.1:p.Asp73Gly | XP_011542750.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X14 | XP_011542751.1:p.Asp73= | XP_011542751.1:p.Asp73Gly | XP_011542751.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X26 | XP_016868720.1:p.Asp162= | XP_016868720.1:p.Asp162Gly | XP_016868720.1:p.Asp162Ala |
| fibroblast growth factor receptor 1 isoform X11 | XP_047277526.1:p.Asp129= | XP_047277526.1:p.Asp129Gly | XP_047277526.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X12 | XP_047277527.1:p.Asp129= | XP_047277527.1:p.Asp129Gly | XP_047277527.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X22 | XP_047277529.1:p.Asp40= | XP_047277529.1:p.Asp40Gly | XP_047277529.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X23 | XP_047277530.1:p.Asp40= | XP_047277530.1:p.Asp40Gly | XP_047277530.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X9 | XP_047277525.1:p.Asp129= | XP_047277525.1:p.Asp129Gly | XP_047277525.1:p.Asp129Ala |
| fibroblast growth factor receptor 1 isoform X10 | XP_024302865.1:p.Asp121= | XP_024302865.1:p.Asp121Gly | XP_024302865.1:p.Asp121Ala |
| fibroblast growth factor receptor 1 isoform X15 | XP_047277528.1:p.Asp73= | XP_047277528.1:p.Asp73Gly | XP_047277528.1:p.Asp73Ala |
| fibroblast growth factor receptor 1 isoform X19 | XP_006716374.1:p.Asp40= | XP_006716374.1:p.Asp40Gly | XP_006716374.1:p.Asp40Ala |
| fibroblast growth factor receptor 1 isoform X21 | XP_011542753.1:p.Asp32= | XP_011542753.1:p.Asp32Gly | XP_011542753.1:p.Asp32Ala |
| fibroblast growth factor receptor 1 isoform X24 | XP_047277531.1:p.Asp162= | XP_047277531.1:p.Asp162Gly | XP_047277531.1:p.Asp162Ala |
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#.
10 SubSNP,
6 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1689170535 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2737114051 | Nov 08, 2017 (151) |
| 3 | ILLUMINA | ss3022838655 | Nov 08, 2017 (151) |
| 4 | ILLUMINA | ss3653380205 | Oct 12, 2018 (152) |
| 5 | ILLUMINA | ss3726531649 | Jul 13, 2019 (153) |
| 6 | GNOMAD | ss4182682962 | Apr 26, 2021 (155) |
| 7 | TOPMED | ss4782762164 | Apr 26, 2021 (155) |
| 8 | TOPMED | ss4782762165 | Apr 26, 2021 (155) |
| 9 | EVA | ss5380529342 | Oct 17, 2022 (156) |
| 10 | EVA | ss5935928795 | Oct 17, 2022 (156) |
| 11 | ExAC | NC_000008.10 - 38285926 | Oct 12, 2018 (152) |
| 12 | gnomAD - Genomes | NC_000008.11 - 38428408 | Apr 26, 2021 (155) |
| 13 | gnomAD - Exomes | NC_000008.10 - 38285926 | Jul 13, 2019 (153) |
| 14 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 15 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 16 | ALFA | NC_000008.11 - 38428408 | Apr 26, 2021 (155) |
| 17 | ClinVar | RCV000521203.2 | Oct 17, 2022 (156) |
| 18 | ClinVar | RCV002060267.3 | Oct 17, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5935928795 | NC_000008.10:38285925:T:C | NC_000008.11:38428407:T:C | |
| 6167420570, ss4782762164 | NC_000008.11:38428407:T:C | NC_000008.11:38428407:T:C | (self) |
| 9268532, 6285037, ss1689170535, ss2737114051, ss3022838655, ss3653380205, ss5380529342 | NC_000008.10:38285925:T:G | NC_000008.11:38428407:T:G | (self) |
| RCV000521203.2, RCV002060267.3, 293142008, 6167420570, ss3726531649, ss4182682962, ss4782762165 | NC_000008.11:38428407:T:G | NC_000008.11:38428407:T:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs765615419
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.