COSMIC:
COSM3722413 (not active)
Revel Score:
ENST00000306052 (MANE Select)
0.216
ENST00000371454
0.216
ENST00000354412
0.216
ENST00000347547
0.216
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84731093 (AFR)
Genomes Max Group AF
0.83470273 (AFR)
Exomes Max Group AF
0.85784921 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53326979A>C , CM000663.2:g.53326979A>C | GRCh38 |
| NC_000001.10:g.53792651A>C , CM000663.1:g.53792651A>C | GRCh37 |
| NC_000001.9:g.53565239A>C | NCBI36 |
| NG_011517.2:g.6171T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.138T>G MANE Select | ENSP00000303634.6:p.Asp46Glu | |
| ENST00000347547.7:c.138T>G | ENSP00000334522.2:p.Asp46Glu | |
| ENST00000465675.6:c.120T>G | ENSP00000437009.2:p.Asp40Glu | |
| ENST00000480045.6:c.138T>G | ENSP00000433554.2:p.Asp46Glu | |
| ENST00000654634.1:n.289T>G | ||
| ENST00000655704.1:n.220T>G | ||
| ENST00000657895.1:c.138T>G | ENSP00000499764.1:p.Asp46Glu | |
| ENST00000658277.1:c.138T>G | ENSP00000499550.1:p.Asp46Glu | |
| ENST00000658404.1:n.156T>G | ||
| ENST00000659993.1:c.138T>G | ENSP00000499697.1:p.Asp46Glu | |
| ENST00000661359.1:n.276T>G | ||
| ENST00000661457.1:c.138T>G | ENSP00000499547.1:p.Asp46Glu | |
| ENST00000662198.1:c.138T>G | ENSP00000499355.1:p.Asp46Glu | |
| ENST00000662604.1:c.138T>G | ENSP00000499486.1:p.Asp46Glu | |
| ENST00000667377.1:c.138T>G | ENSP00000499405.1:p.Asp46Glu | |
| ENST00000668071.1:c.109T>G | ||
| ENST00000668448.1:c.138T>G | ENSP00000499273.1:p.Asp46Glu | |
| ENST00000668991.1:n.199T>G | ||
| ENST00000669432.1:n.264T>G | ||
| ENST00000306052.10:c.138T>G | ENSP00000303634.6:p.Asp46Glu | |
| ENST00000347547.6:c.138T>G | ENSP00000334522.2:p.Asp46Glu | |
| ENST00000354412.7:c.138T>G | ENSP00000346391.3:p.Asp46Glu | |
| ENST00000371454.6:c.138T>G | ENSP00000360509.2:p.Asp46Glu | |
| ENST00000465675.5:c.-691T>G | ENSP00000437009.1:n.-691T>G | |
| ENST00000480045.5:c.138T>G | ENSP00000433554.1:p.Asp46Glu | |
| ENST00000496580.1:n.43T>G | ||
| ENST00000613948.4:c.138T>G | ENSP00000480025.1:p.Asp46Glu | |
| NM_001018054.2:c.138T>G | NP_001018064.1:p.Asp46Glu | |
| NM_004631.4:c.138T>G | NP_004622.2:p.Asp46Glu | |
| NM_017522.4:c.138T>G | NP_059992.3:p.Asp46Glu | |
| NM_033300.3:c.138T>G | NP_150643.2:p.Asp46Glu | |
| XM_005271173.2:c.138T>G | XP_005271230.1:p.Asp46Glu | |
| XM_005271174.2:c.138T>G | XP_005271231.1:p.Asp46Glu | |
| XM_005271175.2:c.138T>G | XP_005271232.1:p.Asp46Glu | |
| XM_006710881.2:c.138T>G | XP_006710944.1:p.Asp46Glu | |
| XM_006710882.2:c.138T>G | XP_006710945.1:p.Asp46Glu | |
| XM_011542094.1:c.138T>G | XP_011540396.1:p.Asp46Glu | |
| XM_011542095.1:c.138T>G | XP_011540397.1:p.Asp46Glu | |
| XM_011542096.1:c.138T>G | XP_011540398.1:p.Asp46Glu | |
| XM_011542097.1:c.138T>G | XP_011540399.1:p.Asp46Glu | |
| XM_005271173.4:c.138T>G | XP_005271230.1:p.Asp46Glu | |
| XM_005271174.3:c.138T>G | XP_005271231.1:p.Asp46Glu | |
| XM_005271175.3:c.138T>G | XP_005271232.1:p.Asp46Glu | |
| XM_006710881.4:c.138T>G | XP_006710944.1:p.Asp46Glu | |
| XM_006710882.4:c.138T>G | XP_006710945.1:p.Asp46Glu | |
| XM_011542094.2:c.138T>G | XP_011540396.1:p.Asp46Glu | |
| XM_011542095.2:c.138T>G | XP_011540397.1:p.Asp46Glu | |
| XM_011542096.2:c.138T>G | XP_011540398.1:p.Asp46Glu | |
| XM_017002265.1:c.138T>G | XP_016857754.1:p.Asp46Glu | |
| XM_017002266.2:c.138T>G | XP_016857755.1:p.Asp46Glu | |
| XM_017002267.1:c.-694T>G | XP_016857756.1:n.-694T>G | |
| XM_017002268.1:c.-733T>G | XP_016857757.1:n.-733T>G | |
| NM_001018054.3:c.138T>G | NP_001018064.1:p.Asp46Glu | |
| NM_004631.5:c.138T>G MANE Select | NP_004622.2:p.Asp46Glu | |
| NM_017522.5:c.138T>G | NP_059992.3:p.Asp46Glu | |
| NM_033300.4:c.138T>G | NP_150643.2:p.Asp46Glu |