Revel Score:
ENST00000375128 (MANE Select)
0.133
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00126701 (EAS)
Genomes Max Group AF
0.00090604 (EAS)
Exomes Max Group AF
0.0012287 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97685025G>C , CM000671.2:g.97685025G>C | GRCh38 |
| NC_000009.11:g.100447307G>C , CM000671.1:g.100447307G>C | GRCh37 |
| NC_000009.10:g.99487128G>C | NCBI36 |
| NG_011642.1:g.17385C>G , LRG_471:g.17385C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.571C>G MANE Select | ENSP00000364270.5:p.Leu191Val | |
| ENST00000375128.4:c.571C>G | ENSP00000364270.4:p.Leu191Val | |
| ENST00000462523.5:c.571C>G | ENSP00000433006.1:p.Leu191Val | |
| ENST00000496104.1:n.365C>G | ||
| NM_000380.3:c.571C>G , LRG_471t1:c.571C>G | NP_000371.1:p.Leu191Val | |
| NR_027302.1:n.688C>G | ||
| XM_006717278.1:c.571C>G | XP_006717341.1:p.Leu191Val | |
| XM_011518988.1:c.571C>G | XP_011517290.1:p.Leu191Val | |
| XR_929839.1:n.682C>G | ||
| NM_001354975.1:c.445C>G | NP_001341904.1:p.Leu149Val | |
| NR_149091.1:n.416C>G | ||
| NR_149092.1:n.582C>G | ||
| NR_149093.1:n.688C>G | ||
| NR_149094.1:n.582C>G | ||
| NM_000380.4:c.571C>G MANE Select | NP_000371.1:p.Leu191Val | |
| NM_001354975.2:c.445C>G | NP_001341904.1:p.Leu149Val | |
| NR_027302.2:n.619C>G | ||
| NR_149091.2:n.347C>G | ||
| NR_149092.2:n.513C>G | ||
| NR_149093.2:n.619C>G | ||
| NR_149094.2:n.513C>G |