Revel Score:
ENST00000377103 (MANE Select)
0.338
ENST00000503590
0.338
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048022G>T , CM000682.2:g.23048022G>T | GRCh38 |
| NC_000020.10:g.23028659G>T , CM000682.1:g.23028659G>T | GRCh37 |
| NC_000020.9:g.22976659G>T | NCBI36 |
| NG_012027.1:g.6643C>A , LRG_168:g.6643C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1483C>A MANE Select | ENSP00000366307.2:p.Pro495Thr | |
| ENST00000377103.2:c.1483C>A | ENSP00000366307.2:p.Pro495Thr | |
| NM_000361.2:c.1483C>A , LRG_168t1:c.1483C>A | NP_000352.1:p.Pro495Thr | |
| NM_000361.3:c.1483C>A MANE Select | NP_000352.1:p.Pro495Thr |