Revel Score:
ENST00000300452 (MANE Select)
0.656
ENST00000372875
0.656
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128323135C>A , CM000671.2:g.128323135C>A | GRCh38 |
| NC_000009.11:g.131085414C>A , CM000671.1:g.131085414C>A | GRCh37 |
| NC_000009.10:g.130125235C>A | NCBI36 |
| NG_042101.1:g.5628C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.190C>A MANE Select | ENSP00000300452.3:p.Pro64Thr | |
| ENST00000300452.7:c.190C>A | ENSP00000300452.3:p.Pro64Thr | |
| ENST00000372875.3:c.190C>A | ENSP00000361966.3:p.Pro64Thr | |
| ENST00000608951.5:c.190C>A | ENSP00000476323.1:p.Pro64Thr | |
| ENST00000609948.1:c.190C>A | ENSP00000477292.1:p.Pro64Thr | |
| NM_001305942.1:c.190C>A | NP_001292871.1:p.Pro64Thr | |
| NM_016035.3:c.190C>A | NP_057119.2:p.Pro64Thr | |
| NM_016035.4:c.190C>A | NP_057119.2:p.Pro64Thr | |
| XM_011518761.1:c.190C>A | XP_011517063.1:p.Pro64Thr | |
| XR_929805.1:n.536C>A | ||
| XM_017014792.1:c.190C>A | XP_016870281.1:p.Pro64Thr | |
| XM_017014793.1:c.190C>A | XP_016870282.1:p.Pro64Thr | |
| XR_001746316.2:n.540C>A | ||
| XR_929805.3:n.536C>A | ||
| NM_016035.5:c.190C>A MANE Select | NP_057119.3:p.Pro64Thr | |
| NM_001305942.2:c.190C>A | NP_001292871.2:p.Pro64Thr |