Revel Score:
ENST00000526927
0.661
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65543187C>A , CM000673.2:g.65543187C>A | GRCh38 |
| NC_000011.9:g.65310658C>A , CM000673.1:g.65310658C>A | GRCh37 |
| NC_000011.8:g.65067234C>A | NCBI36 |
| NG_016437.1:g.20042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*1777G>T | ENSP00000435146.2:n.*1777G>T | |
| ENST00000526927.6:c.1659G>T | ENSP00000431219.2:p.Gly553= | |
| ENST00000530866.6:c.2247G>T | ENSP00000435276.2:p.Gly749= | |
| ENST00000685178.1:n.2186G>T | ||
| ENST00000688764.1:n.1037G>T | ||
| ENST00000689505.1:c.2391G>T | ENSP00000510401.1:p.Gly797= | |
| ENST00000301873.11:c.2514G>T MANE Select | ENSP00000301873.5:p.Gly838= | |
| ENST00000301873.9:c.2514G>T | ENSP00000301873.5:p.Gly838= | |
| ENST00000322147.8:c.2514G>T | ENSP00000326647.4:p.Gly838= | |
| ENST00000525443.1:n.2382G>T | ||
| ENST00000526927.5:c.1465G>T | ||
| ENST00000528516.5:c.*2159G>T | ENSP00000432350.1:n.*2159G>T | |
| ENST00000529189.5:c.-478G>T | ENSP00000434406.1:n.-478G>T | |
| ENST00000530785.5:c.-478G>T | ENSP00000434315.1:n.-478G>T | |
| ENST00000530866.5:c.2247G>T | ENSP00000435276.1:p.Gly749= | |
| ENST00000532932.5:c.804G>T | ENSP00000435530.1:p.Gly268= | |
| ENST00000536982.5:c.-478G>T | ENSP00000441912.2:n.-478G>T | |
| NM_001130144.2:c.2514G>T | NP_001123616.1:p.Gly838= | |
| NM_001164266.1:c.2163G>T | NP_001157738.1:p.Gly721= | |
| NM_021070.4:c.2514G>T | NP_066548.2:p.Gly838= | |
| XM_011545032.1:c.2541G>T | XP_011543334.1:p.Gly847= | |
| XM_011545033.1:c.2541G>T | XP_011543335.1:p.Gly847= | |
| XR_949928.1:n.2941G>T | ||
| XM_011545032.2:c.2541G>T | XP_011543334.1:p.Gly847= | |
| XM_011545033.3:c.2541G>T | XP_011543335.1:p.Gly847= | |
| XR_001747875.2:n.2964G>T | ||
| XR_949928.3:n.2964G>T | ||
| NM_001130144.3:c.2514G>T MANE Select | NP_001123616.1:p.Gly838= |