Revel Score:
ENST00000369140
0.695
ENST00000439741 (MANE Select)
0.695
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149930450C>A , CM000663.2:g.149930450C>A | GRCh38 |
| NC_000001.10:g.149902342C>A , CM000663.1:g.149902342C>A | GRCh37 |
| NC_000001.9:g.148168966C>A | NCBI36 |
| NG_032777.1:g.2803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439741.4:c.1562G>T MANE Select | ENSP00000391668.2:p.Arg521Leu | |
| ENST00000369140.7:c.1346G>T | ENSP00000358136.3:p.Arg449Leu | |
| ENST00000439741.2:c.1562G>T | ENSP00000391668.2:p.Arg521Leu | |
| ENST00000466496.5:n.882G>T | ||
| ENST00000482025.5:n.1788G>T | ||
| ENST00000482343.5:n.1386G>T | ||
| ENST00000490310.1:n.694G>T | ||
| ENST00000492824.5:n.1982G>T | ||
| ENST00000495054.1:n.605G>T | ||
| NM_001145862.1:c.1562G>T | NP_001139334.1:p.Arg521Leu | |
| NM_181873.3:c.1346G>T | NP_870988.2:p.Arg449Leu | |
| XM_006711135.1:c.1454G>T | XP_006711198.1:p.Arg485Leu | |
| XM_006711136.2:c.1346G>T | XP_006711199.1:p.Arg449Leu | |
| XM_006711137.1:c.1346G>T | XP_006711200.1:p.Arg449Leu | |
| XM_011509098.1:c.1478G>T | XP_011507400.1:p.Arg493Leu | |
| XM_011509099.1:c.*520G>T | XP_011507401.1:n.*520G>T | |
| XR_426759.2:n.1753G>T | ||
| XR_426760.2:n.1659G>T | ||
| XM_011509099.3:c.*520G>T | XP_011507401.1:n.*520G>T | |
| XM_024452577.1:c.1478G>T | XP_024308345.1:p.Arg493Leu | |
| XM_024452578.1:c.1454G>T | XP_024308346.1:p.Arg485Leu | |
| XR_002959043.1:n.1775G>T | ||
| XR_002959062.1:n.1891G>T | ||
| XR_002959066.1:n.1593G>T | ||
| XR_002959067.1:n.3112G>T | ||
| XR_426760.4:n.1681G>T | ||
| NM_001145862.2:c.1562G>T MANE Select | NP_001139334.1:p.Arg521Leu |