COSMIC:
COSN20446565 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81764109 (AFR)
Genomes Max Group AF
0.81764109 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75917574G>A , CM000669.2:g.75917574G>A | GRCh38 |
| NC_000007.13:g.75546892G>A , CM000669.1:g.75546892G>A | GRCh37 |
| NC_000007.12:g.75384828G>A | NCBI36 |
| NG_008930.1:g.7473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706544.1:c.-5+2395G>A | ENSP00000516442.1:n.-5+2395G>A | |
| ENST00000706545.1:c.-5+1807G>A | ENSP00000516443.1:n.-5+1807G>A | |
| ENST00000706546.1:c.-478+2395G>A | ENSP00000516444.1:n.-478+2395G>A | |
| ENST00000706547.1:c.-596+2395G>A | ENSP00000516445.1:n.-596+2395G>A | |
| ENST00000461988.6:c.-5+2395G>A MANE Select | ENSP00000419970.1:n.-5+2395G>A | |
| ENST00000394893.5:c.-5+2395G>A | ENSP00000378355.1:n.-5+2395G>A | |
| ENST00000412521.5:c.-5+1807G>A | ENSP00000409238.1:n.-5+1807G>A | |
| ENST00000414186.5:c.-5+2365G>A | ENSP00000399327.1:n.-5+2365G>A | |
| ENST00000421059.1:c.-5+1908G>A | ENSP00000409881.1:n.-5+1908G>A | |
| ENST00000439963.5:c.-5+9943G>A | ENSP00000390540.1:n.-5+9943G>A | |
| ENST00000448410.5:c.-5+2395G>A | ENSP00000399409.1:n.-5+2395G>A | |
| ENST00000453773.5:c.-5+18302G>A | ENSP00000395813.1:n.-5+18302G>A | |
| ENST00000461988.5:c.-5+2395G>A | ENSP00000419970.1:n.-5+2395G>A | |
| ENST00000471238.5:n.23+2395G>A | ||
| NM_000941.2:c.-5+2395G>A | NP_000932.3:n.-5+2395G>A | |
| NM_000941.3:c.-5+2395G>A | NP_000932.3:n.-5+2395G>A | |
| NM_001367562.1:c.-5+1807G>A | NP_001354491.1:n.-5+1807G>A | |
| NM_001382655.1:c.-5+2395G>A | NP_001369584.1:n.-5+2395G>A | |
| NM_001382657.1:c.-104+2395G>A | NP_001369586.1:n.-104+2395G>A | |
| NM_001382658.1:c.-478+2395G>A | NP_001369587.1:n.-478+2395G>A | |
| NM_001382659.1:c.-5+2361G>A | NP_001369588.1:n.-5+2361G>A | |
| NM_001382662.1:c.-5+1908G>A | NP_001369591.1:n.-5+1908G>A | |
| NM_001367562.3:c.-14+1807G>A | NP_001354491.2:n.-14+1807G>A | |
| NM_001382655.3:c.-14+2395G>A | NP_001369584.2:n.-14+2395G>A | |
| NM_001382657.2:c.-113+2395G>A | NP_001369586.2:n.-113+2395G>A | |
| NM_001382658.3:c.-487+2395G>A | NP_001369587.2:n.-487+2395G>A | |
| NM_001382659.3:c.-14+2361G>A | NP_001369588.2:n.-14+2361G>A | |
| NM_001382662.3:c.-14+1908G>A | NP_001369591.2:n.-14+1908G>A | |
| NM_001395413.1:c.-14+2395G>A MANE Select | NP_001382342.1:n.-14+2395G>A |