COSMIC:
COSN18019360 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62386219 (AMR)
Genomes Max Group AF
0.62386219 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35404103G>C , CM000673.2:g.35404103G>C | GRCh38 |
| NC_000011.9:g.35425650G>C , CM000673.1:g.35425650G>C | GRCh37 |
| NC_000011.8:g.35382226G>C | NCBI36 |
| NG_008727.1:g.20456C>G | |
| NG_008727.2:g.20456C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.17+14847C>G MANE Select | ENSP00000278379.3:n.17+14847C>G | |
| ENST00000395750.6:c.5+15833C>G | ENSP00000379099.2:n.5+15833C>G | |
| ENST00000395753.6:c.-11+15805C>G | ENSP00000379102.1:n.-11+15805C>G | |
| ENST00000449068.2:c.17+14847C>G | ENSP00000406133.2:n.17+14847C>G | |
| ENST00000531628.2:c.17+14847C>G | ENSP00000436029.2:n.17+14847C>G | |
| ENST00000606205.6:c.17+14847C>G | ENSP00000476124.2:n.17+14847C>G | |
| ENST00000642171.1:c.17+14847C>G | ENSP00000495538.1:n.17+14847C>G | |
| ENST00000642183.1:n.172+216C>G | ||
| ENST00000642224.1:n.199+216C>G | ||
| ENST00000642392.1:n.89+15833C>G | ||
| ENST00000642448.1:n.109+9585C>G | ||
| ENST00000642578.1:c.-11+15805C>G | ENSP00000494076.1:n.-11+15805C>G | |
| ENST00000643000.1:c.-11+15817C>G | ENSP00000495164.1:n.-11+15817C>G | |
| ENST00000643134.1:c.17+14847C>G | ENSP00000495188.1:n.17+14847C>G | |
| ENST00000643154.1:n.597+14847C>G | ||
| ENST00000643305.1:c.17+14847C>G | ENSP00000494828.1:n.17+14847C>G | |
| ENST00000643401.1:c.33+15805C>G | ENSP00000493765.1:n.33+15805C>G | |
| ENST00000643522.1:c.17+14847C>G | ENSP00000496375.1:n.17+14847C>G | |
| ENST00000644050.1:c.-130+14847C>G | ENSP00000496123.1:n.-130+14847C>G | |
| ENST00000644100.1:n.92+14847C>G | ||
| ENST00000644299.1:c.-11+14377C>G | ENSP00000494669.1:n.-11+14377C>G | |
| ENST00000644351.1:c.17+14847C>G | ENSP00000496587.1:n.17+14847C>G | |
| ENST00000644459.1:c.17+14847C>G | ENSP00000495861.1:n.17+14847C>G | |
| ENST00000644779.1:c.-537+14847C>G | ENSP00000494258.1:n.-537+14847C>G | |
| ENST00000645194.1:c.-11+14246C>G | ENSP00000496093.1:n.-11+14246C>G | |
| ENST00000645303.1:c.-130+14847C>G | ENSP00000496667.1:n.-130+14847C>G | |
| ENST00000645634.1:c.-167+15805C>G | ENSP00000493945.1:n.-167+15805C>G | |
| ENST00000645966.1:c.-79-12495C>G | ENSP00000493762.1:n.-79-12495C>G | |
| ENST00000646099.1:c.5+15833C>G | ENSP00000495799.1:n.5+15833C>G | |
| ENST00000646585.1:n.172+216C>G | ||
| ENST00000646847.1:c.17+14847C>G | ENSP00000493924.1:n.17+14847C>G | |
| ENST00000647104.1:c.-130+15833C>G | ENSP00000494025.1:n.-130+15833C>G | |
| ENST00000647372.1:c.-11+15817C>G | ENSP00000495277.1:n.-11+15817C>G | |
| ENST00000278379.7:c.17+14847C>G | ENSP00000278379.3:n.17+14847C>G | |
| ENST00000395750.5:c.-130+15833C>G | ENSP00000379099.1:n.-130+15833C>G | |
| ENST00000395753.5:c.-167+15805C>G | ENSP00000379102.1:n.-167+15805C>G | |
| ENST00000449068.1:c.5+15833C>G | ENSP00000406133.1:n.5+15833C>G | |
| ENST00000606205.5:c.17+14847C>G | ENSP00000476124.1:n.17+14847C>G | |
| NM_001195728.2:c.-130+15833C>G | NP_001182657.1:n.-130+15833C>G | |
| NM_001252652.1:c.-167+15805C>G | NP_001239581.1:n.-167+15805C>G | |
| NM_004171.3:c.17+14847C>G | NP_004162.2:n.17+14847C>G | |
| XM_011520284.1:c.-42-4422C>G | XP_011518586.1:n.-42-4422C>G | |
| XM_011520285.1:c.5+15833C>G | XP_011518587.1:n.5+15833C>G | |
| XM_011520286.1:c.-42-4422C>G | XP_011518588.1:n.-42-4422C>G | |
| XM_011520287.1:c.-42-4422C>G | XP_011518589.1:n.-42-4422C>G | |
| XM_011520285.2:c.5+15833C>G | XP_011518587.1:n.5+15833C>G | |
| XM_017018137.1:c.-11+15805C>G | XP_016873626.1:n.-11+15805C>G | |
| XM_017018138.1:c.-11+15817C>G | XP_016873627.1:n.-11+15817C>G | |
| XM_017018139.1:c.17+14847C>G | XP_016873628.1:n.17+14847C>G | |
| NM_004171.4:c.17+14847C>G MANE Select | NP_004162.2:n.17+14847C>G | |
| NM_001195728.3:c.-130+15833C>G | NP_001182657.1:n.-130+15833C>G | |
| NM_001252652.2:c.-167+15805C>G | NP_001239581.1:n.-167+15805C>G |