Revel Score:
ENST00000340855 (MANE Select)
0.747
ENST00000541269
0.747
ENST00000370441
0.747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490436T>A , CM000685.2:g.149490436T>A | GRCh38 |
| NC_000023.10:g.148571967T>A , CM000685.1:g.148571967T>A | GRCh37 |
| NC_000023.9:g.148379872T>A | NCBI36 |
| NG_011900.3:g.19899A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.884A>T MANE Select | ENSP00000339801.6:p.Lys295Ile | |
| ENST00000651111.1:c.251A>T | ENSP00000498395.1:p.Lys84Ile | |
| ENST00000340855.10:c.884A>T | ENSP00000339801.6:p.Lys295Ile | |
| ENST00000370441.8:c.884A>T | ENSP00000359470.4:p.Lys295Ile | |
| ENST00000422081.6:c.251A>T | ENSP00000477056.1:p.Lys84Ile | |
| ENST00000441880.1:n.114-3338A>T | ||
| ENST00000464251.5:c.810A>T | ENSP00000428980.1:n.810A>T | |
| ENST00000466323.5:c.*75A>T | ENSP00000418264.1:n.*75A>T | |
| ENST00000490775.5:n.669A>T | ||
| NM_000202.6:c.884A>T | NP_000193.1:p.Lys295Ile | |
| NM_001166550.2:c.614A>T | NP_001160022.1:p.Lys205Ile | |
| NM_006123.4:c.884A>T | NP_006114.1:p.Lys295Ile | |
| NR_104128.1:n.1231A>T | ||
| NM_000202.7:c.884A>T | NP_000193.1:p.Lys295Ile | |
| NM_001166550.3:c.614A>T | NP_001160022.1:p.Lys205Ile | |
| NM_000202.8:c.884A>T MANE Select | NP_000193.1:p.Lys295Ile | |
| NM_001166550.4:c.614A>T | NP_001160022.1:p.Lys205Ile | |
| NM_006123.5:c.884A>T | NP_006114.1:p.Lys295Ile | |
| NR_104128.2:n.1183A>T |