Revel Score:
ENST00000300452 (MANE Select)
0.574
ENST00000372875
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128325835C>T , CM000671.2:g.128325835C>T | GRCh38 |
| NC_000009.11:g.131088114C>T , CM000671.1:g.131088114C>T | GRCh37 |
| NC_000009.10:g.130127935C>T | NCBI36 |
| NG_042101.1:g.8328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.356C>T MANE Select | ENSP00000300452.3:p.Pro119Leu | |
| ENST00000300452.7:c.356C>T | ENSP00000300452.3:p.Pro119Leu | |
| ENST00000372875.3:c.356C>T | ENSP00000361966.3:p.Pro119Leu | |
| NM_001305942.1:c.259C>T | NP_001292871.1:p.Arg87Trp | |
| NM_016035.3:c.356C>T | NP_057119.2:p.Pro119Leu | |
| NM_016035.4:c.356C>T | NP_057119.2:p.Pro119Leu | |
| XM_011518761.1:c.356C>T | XP_011517063.1:p.Pro119Leu | |
| XR_929805.1:n.702C>T | ||
| XM_017014792.1:c.259C>T | XP_016870281.1:p.Arg87Trp | |
| XM_017014793.1:c.259C>T | XP_016870282.1:p.Arg87Trp | |
| XR_001746316.2:n.609C>T | ||
| XR_929805.3:n.702C>T | ||
| NM_016035.5:c.356C>T MANE Select | NP_057119.3:p.Pro119Leu | |
| NM_001305942.2:c.259C>T | NP_001292871.2:p.Arg87Trp |