Revel Score:
ENST00000340855 (MANE Select)
0.973
ENST00000541269
0.973
ENST00000370441
0.973
ENST00000370443
0.973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498132G>A , CM000685.2:g.149498132G>A | GRCh38 |
| NC_000023.10:g.148579663G>A , CM000685.1:g.148579663G>A | GRCh37 |
| NC_000023.9:g.148387568G>A | NCBI36 |
| NG_011900.3:g.12203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.683C>T MANE Select | ENSP00000339801.6:p.Pro228Leu | |
| ENST00000651111.1:c.50C>T | ENSP00000498395.1:p.Pro17Leu | |
| ENST00000340855.10:c.683C>T | ENSP00000339801.6:p.Pro228Leu | |
| ENST00000370441.8:c.683C>T | ENSP00000359470.4:p.Pro228Leu | |
| ENST00000422081.6:c.50C>T | ENSP00000477056.1:p.Pro17Leu | |
| ENST00000441880.1:n.114-11034C>T | ||
| ENST00000464251.5:c.609C>T | ENSP00000428980.1:n.609C>T | |
| ENST00000466019.1:n.135C>T | ||
| ENST00000466323.5:c.683C>T | ENSP00000418264.1:p.Pro228Leu | |
| ENST00000490775.5:n.468C>T | ||
| NM_000202.6:c.683C>T | NP_000193.1:p.Pro228Leu | |
| NM_001166550.2:c.413C>T | NP_001160022.1:p.Pro138Leu | |
| NM_006123.4:c.683C>T | NP_006114.1:p.Pro228Leu | |
| NR_104128.1:n.900C>T | ||
| NM_000202.7:c.683C>T | NP_000193.1:p.Pro228Leu | |
| NM_001166550.3:c.413C>T | NP_001160022.1:p.Pro138Leu | |
| NM_000202.8:c.683C>T MANE Select | NP_000193.1:p.Pro228Leu | |
| NM_001166550.4:c.413C>T | NP_001160022.1:p.Pro138Leu | |
| NM_006123.5:c.683C>T | NP_006114.1:p.Pro228Leu | |
| NR_104128.2:n.852C>T |