Revel Score:
ENST00000367435 (MANE Select)
0.240
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004296 (AMR)
Exomes Max Group AF
0.00004372 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193250690A>G , CM000663.2:g.193250690A>G | GRCh38 |
| NC_000001.10:g.193219820A>G , CM000663.1:g.193219820A>G | GRCh37 |
| NC_000001.9:g.191486443A>G | NCBI36 |
| NG_012691.1:g.133733A>G , LRG_507:g.133733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1574A>G MANE Select | ENSP00000356405.4:p.His525Arg | |
| ENST00000635846.1:c.1331A>G | ENSP00000490035.1:p.His444Arg | |
| ENST00000643006.1:c.*484A>G | ENSP00000496633.1:n.*484A>G | |
| ENST00000648071.1:c.*1550A>G | ENSP00000497513.1:n.*1550A>G | |
| ENST00000649613.1:n.824A>G | ||
| ENST00000650197.1:c.*272A>G | ENSP00000496929.1:n.*272A>G | |
| ENST00000367435.3:c.1574A>G | ENSP00000356405.3:p.His525Arg | |
| ENST00000477868.1:n.286A>G | ||
| NM_024529.4:c.1574A>G , LRG_507t1:c.1574A>G | NP_078805.3:p.His525Arg | |
| NM_024529.5:c.1574A>G MANE Select | NP_078805.3:p.His525Arg |