Revel Score:
ENST00000306052 (MANE Select)
0.040
ENST00000371454
0.040
ENST00000465675
0.040
ENST00000354412
0.040
ENST00000347547
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013316 (AFR)
Genomes Max Group AF
0.00011293 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53250744G>T , CM000663.2:g.53250744G>T | GRCh38 |
| NC_000001.10:g.53716416G>T , CM000663.1:g.53716416G>T | GRCh37 |
| NC_000001.9:g.53489004G>T | NCBI36 |
| NG_011517.2:g.82406C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.2622C>A MANE Select | ENSP00000303634.6:p.Asp874Glu | |
| ENST00000347547.7:c.2112C>A | ENSP00000334522.2:p.Asp704Glu | |
| ENST00000465675.6:c.2256C>A | ENSP00000437009.2:p.Asp752Glu | |
| ENST00000480045.6:c.*787C>A | ENSP00000433554.2:n.*787C>A | |
| ENST00000529670.6:c.337C>A | ||
| ENST00000653217.1:c.2157C>A | ENSP00000499777.1:p.Asp719Glu | |
| ENST00000653810.1:c.1520C>A | ||
| ENST00000654834.1:n.2082C>A | ||
| ENST00000654947.1:c.240C>A | ENSP00000499442.1:p.Asp80Glu | |
| ENST00000655704.1:n.2704C>A | ||
| ENST00000656486.1:c.1752C>A | ENSP00000499708.1:p.Asp584Glu | |
| ENST00000657047.1:c.337C>A | ||
| ENST00000657895.1:c.2103C>A | ENSP00000499764.1:p.Asp701Glu | |
| ENST00000658277.1:c.1857C>A | ENSP00000499550.1:p.Asp619Glu | |
| ENST00000658404.1:n.2127C>A | ||
| ENST00000661457.1:c.*2018C>A | ENSP00000499547.1:n.*2018C>A | |
| ENST00000662198.1:c.2235C>A | ENSP00000499355.1:p.Asp745Glu | |
| ENST00000662604.1:c.2106C>A | ENSP00000499486.1:p.Asp702Glu | |
| ENST00000662802.1:c.384C>A | ||
| ENST00000667377.1:c.2622C>A | ENSP00000499405.1:p.Asp874Glu | |
| ENST00000668071.1:c.2206C>A | ||
| ENST00000668448.1:c.2397C>A | ENSP00000499273.1:p.Asp799Glu | |
| ENST00000668991.1:n.2335C>A | ||
| ENST00000669432.1:n.9086C>A | ||
| ENST00000306052.10:c.2622C>A | ENSP00000303634.6:p.Asp874Glu | |
| ENST00000347547.6:c.2112C>A | ENSP00000334522.2:p.Asp704Glu | |
| ENST00000354412.7:c.2010C>A | ENSP00000346391.3:p.Asp670Glu | |
| ENST00000371454.6:c.2622C>A | ENSP00000360509.2:p.Asp874Glu | |
| ENST00000465675.5:c.1281C>A | ENSP00000437009.1:p.Asp427Glu | |
| ENST00000480045.5:c.*1564C>A | ENSP00000433554.1:n.*1564C>A | |
| ENST00000529670.5:c.272C>A | ||
| ENST00000613948.4:c.2007C>A | ENSP00000480025.1:p.Asp669Glu | |
| NM_001018054.2:c.2622C>A | NP_001018064.1:p.Asp874Glu | |
| NM_004631.4:c.2622C>A | NP_004622.2:p.Asp874Glu | |
| NM_017522.4:c.2010C>A | NP_059992.3:p.Asp670Glu | |
| NM_033300.3:c.2112C>A | NP_150643.2:p.Asp704Glu | |
| XM_005271173.2:c.2661C>A | XP_005271230.1:p.Asp887Glu | |
| XM_005271174.2:c.2274C>A | XP_005271231.1:p.Asp758Glu | |
| XM_005271175.2:c.2235C>A | XP_005271232.1:p.Asp745Glu | |
| XM_006710881.2:c.2661C>A | XP_006710944.1:p.Asp887Glu | |
| XM_006710882.2:c.2436C>A | XP_006710945.1:p.Asp812Glu | |
| XM_011542094.1:c.2535C>A | XP_011540396.1:p.Asp845Glu | |
| XM_011542095.1:c.2145C>A | XP_011540397.1:p.Asp715Glu | |
| XM_011542097.1:c.2748C>A | XP_011540399.1:p.Asp916Glu | |
| XM_005271173.4:c.2661C>A | XP_005271230.1:p.Asp887Glu | |
| XM_005271174.3:c.2274C>A | XP_005271231.1:p.Asp758Glu | |
| XM_005271175.3:c.2235C>A | XP_005271232.1:p.Asp745Glu | |
| XM_006710881.4:c.2661C>A | XP_006710944.1:p.Asp887Glu | |
| XM_006710882.4:c.2436C>A | XP_006710945.1:p.Asp812Glu | |
| XM_011542094.2:c.2535C>A | XP_011540396.1:p.Asp845Glu | |
| XM_011542095.2:c.2145C>A | XP_011540397.1:p.Asp715Glu | |
| XM_017002265.1:c.2496C>A | XP_016857754.1:p.Asp832Glu | |
| XM_017002266.2:c.2436C>A | XP_016857755.1:p.Asp812Glu | |
| XM_017002267.1:c.1404C>A | XP_016857756.1:p.Asp468Glu | |
| XM_017002268.1:c.1404C>A | XP_016857757.1:p.Asp468Glu | |
| NM_001018054.3:c.2622C>A | NP_001018064.1:p.Asp874Glu | |
| NM_004631.5:c.2622C>A MANE Select | NP_004622.2:p.Asp874Glu | |
| NM_017522.5:c.2010C>A | NP_059992.3:p.Asp670Glu | |
| NM_033300.4:c.2112C>A | NP_150643.2:p.Asp704Glu |