Revel Score:
ENST00000298139 (MANE Select)
0.301
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Exomes Max Group AF
0.00002377 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31124556C>G , CM000670.2:g.31124556C>G | GRCh38 |
| NC_000008.10:g.30982072C>G , CM000670.1:g.30982072C>G | GRCh37 |
| NC_000008.9:g.31101614C>G | NCBI36 |
| NG_008870.1:g.96295C>G , LRG_524:g.96295C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2665C>G MANE Select | ENSP00000298139.5:p.Arg889Gly | |
| ENST00000650667.1:c.*2279C>G | ENSP00000498593.1:n.*2279C>G | |
| ENST00000298139.5:c.2665C>G | ENSP00000298139.5:p.Arg889Gly | |
| ENST00000520169.1:n.504C>G | ||
| ENST00000521620.5:n.1298C>G | ||
| NM_000553.4:c.2665C>G , LRG_524t1:c.2665C>G | NP_000544.2:p.Arg889Gly | |
| XM_011544639.1:c.2584C>G | XP_011542941.1:p.Arg862Gly | |
| XM_011544640.1:c.1066C>G | XP_011542942.1:p.Arg356Gly | |
| XR_949470.1:n.2938C>G | ||
| XR_949471.1:n.2938C>G | ||
| XR_949472.1:n.2938C>G | ||
| NM_000553.5:c.2665C>G | NP_000544.2:p.Arg889Gly | |
| XM_011544639.3:c.2584C>G | XP_011542941.1:p.Arg862Gly | |
| XM_024447265.1:c.2455C>G | XP_024303033.1:p.Arg819Gly | |
| XR_949470.3:n.2966C>G | ||
| XR_949471.3:n.2966C>G | ||
| XR_949472.3:n.2966C>G | ||
| NM_000553.6:c.2665C>G MANE Select | NP_000544.2:p.Arg889Gly |