Revel Score:
ENST00000388922 (MANE Select)
0.968
ENST00000267008
0.968
ENST00000550683
0.968
ENST00000548659
0.968
ENST00000419526
0.968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916114T>G , CM000674.2:g.51916114T>G | GRCh38 |
| NC_000012.11:g.52309898T>G , CM000674.1:g.52309898T>G | GRCh37 |
| NC_000012.10:g.50596165T>G | NCBI36 |
| NG_009549.1:g.13697T>G , LRG_543:g.13697T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.857T>G | ENSP00000446724.2:p.Met286Arg | |
| ENST00000551576.6:c.1127T>G | ENSP00000455848.2:p.Met376Arg | |
| ENST00000552678.2:c.1127T>G | ENSP00000457394.2:p.Met376Arg | |
| ENST00000388922.9:c.1127T>G MANE Select | ENSP00000373574.4:p.Met376Arg | |
| ENST00000388922.8:c.1127T>G | ENSP00000373574.4:p.Met376Arg | |
| ENST00000419526.6:c.605T>G | ENSP00000392492.2:p.Met202Arg | |
| ENST00000547632.1:n.402T>G | ||
| ENST00000550683.5:c.1169T>G | ENSP00000447884.1:p.Met390Arg | |
| ENST00000552678.1:c.132T>G | ||
| NM_000020.2:c.1127T>G , LRG_543t1:c.1127T>G | NP_000011.2:p.Met376Arg | |
| NM_001077401.1:c.1127T>G | NP_001070869.1:p.Met376Arg | |
| XM_005269235.2:c.1127T>G | XP_005269292.1:p.Met376Arg | |
| XM_011539008.1:c.857T>G | XP_011537310.1:p.Met286Arg | |
| XM_024449279.1:c.338T>G | XP_024305047.1:p.Met113Arg | |
| NM_000020.3:c.1127T>G MANE Select | NP_000011.2:p.Met376Arg | |
| NM_001077401.2:c.1127T>G | NP_001070869.1:p.Met376Arg |