Revel Score:
ENST00000298139 (MANE Select)
0.850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31090843A>T , CM000670.2:g.31090843A>T | GRCh38 |
| NC_000008.10:g.30948359A>T , CM000670.1:g.30948359A>T | GRCh37 |
| NC_000008.9:g.31067901A>T | NCBI36 |
| NG_008870.1:g.62582A>T , LRG_524:g.62582A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1730A>T MANE Select | ENSP00000298139.5:p.Lys577Met | |
| ENST00000650667.1:c.*1344A>T | ENSP00000498593.1:n.*1344A>T | |
| ENST00000298139.5:c.1730A>T | ENSP00000298139.5:p.Lys577Met | |
| ENST00000521620.5:n.363A>T | ||
| NM_000553.4:c.1730A>T , LRG_524t1:c.1730A>T | NP_000544.2:p.Lys577Met | |
| XM_011544639.1:c.1649A>T | XP_011542941.1:p.Lys550Met | |
| XM_011544640.1:c.131A>T | XP_011542942.1:p.Lys44Met | |
| XR_949470.1:n.2003A>T | ||
| XR_949471.1:n.2003A>T | ||
| XR_949472.1:n.2003A>T | ||
| NM_000553.5:c.1730A>T | NP_000544.2:p.Lys577Met | |
| XM_011544639.3:c.1649A>T | XP_011542941.1:p.Lys550Met | |
| XM_024447265.1:c.1520A>T | XP_024303033.1:p.Lys507Met | |
| XR_949470.3:n.2031A>T | ||
| XR_949471.3:n.2031A>T | ||
| XR_949472.3:n.2031A>T | ||
| NM_000553.6:c.1730A>T MANE Select | NP_000544.2:p.Lys577Met |