Revel Score:
ENST00000298139 (MANE Select)
0.413
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00622593 (NFE)
Genomes Max Group AF
0.00439381 (NFE)
Exomes Max Group AF
0.00631447 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31154721C>G , CM000670.2:g.31154721C>G | GRCh38 |
| NC_000008.10:g.31012237C>G , CM000670.1:g.31012237C>G | GRCh37 |
| NC_000008.9:g.31131779C>G | NCBI36 |
| NG_008870.1:g.126460C>G , LRG_524:g.126460C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3785C>G MANE Select | ENSP00000298139.5:p.Thr1262Arg | |
| ENST00000650667.1:c.*3399C>G | ENSP00000498593.1:n.*3399C>G | |
| ENST00000298139.5:c.3785C>G | ENSP00000298139.5:p.Thr1262Arg | |
| ENST00000521620.5:n.2418C>G | ||
| NM_000553.4:c.3785C>G , LRG_524t1:c.3785C>G | NP_000544.2:p.Thr1262Arg | |
| XM_011544639.1:c.3704C>G | XP_011542941.1:p.Thr1235Arg | |
| XM_011544640.1:c.2186C>G | XP_011542942.1:p.Thr729Arg | |
| XR_949470.1:n.4058C>G | ||
| XR_949471.1:n.4058C>G | ||
| XR_949472.1:n.4058C>G | ||
| XR_949643.1:n.457-6056G>C | ||
| XR_949644.1:n.381-6056G>C | ||
| XR_949647.1:n.1070-6056G>C | ||
| XR_949648.1:n.972-6056G>C | ||
| NM_000553.5:c.3785C>G | NP_000544.2:p.Thr1262Arg | |
| XM_011544639.3:c.3704C>G | XP_011542941.1:p.Thr1235Arg | |
| XM_024447265.1:c.3575C>G | XP_024303033.1:p.Thr1192Arg | |
| XR_949470.3:n.4086C>G | ||
| XR_949471.3:n.4086C>G | ||
| XR_949472.3:n.4086C>G | ||
| NM_000553.6:c.3785C>G MANE Select | NP_000544.2:p.Thr1262Arg |