Revel Score:
ENST00000300452 (MANE Select)
0.847
ENST00000372875
0.847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128323100T>C , CM000671.2:g.128323100T>C | GRCh38 |
| NC_000009.11:g.131085379T>C , CM000671.1:g.131085379T>C | GRCh37 |
| NC_000009.10:g.130125200T>C | NCBI36 |
| NG_042101.1:g.5593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.155T>C MANE Select | ENSP00000300452.3:p.Leu52Ser | |
| ENST00000300452.7:c.155T>C | ENSP00000300452.3:p.Leu52Ser | |
| ENST00000372875.3:c.155T>C | ENSP00000361966.3:p.Leu52Ser | |
| ENST00000608951.5:c.155T>C | ENSP00000476323.1:p.Leu52Ser | |
| ENST00000609948.1:c.155T>C | ENSP00000477292.1:p.Leu52Ser | |
| NM_001305942.1:c.155T>C | NP_001292871.1:p.Leu52Ser | |
| NM_016035.3:c.155T>C | NP_057119.2:p.Leu52Ser | |
| NM_016035.4:c.155T>C | NP_057119.2:p.Leu52Ser | |
| XM_011518761.1:c.155T>C | XP_011517063.1:p.Leu52Ser | |
| XR_929805.1:n.501T>C | ||
| XM_017014792.1:c.155T>C | XP_016870281.1:p.Leu52Ser | |
| XM_017014793.1:c.155T>C | XP_016870282.1:p.Leu52Ser | |
| XR_001746316.2:n.505T>C | ||
| XR_929805.3:n.501T>C | ||
| NM_016035.5:c.155T>C MANE Select | NP_057119.3:p.Leu52Ser | |
| NM_001305942.2:c.155T>C | NP_001292871.2:p.Leu52Ser |