Revel Score:
ENST00000340855 (MANE Select)
0.944
ENST00000537071
0.944
ENST00000541269
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482935C>A , CM000685.2:g.149482935C>A | GRCh38 |
| NC_000023.10:g.148564466C>A , CM000685.1:g.148564466C>A | GRCh37 |
| NC_000023.9:g.148372371C>A | NCBI36 |
| NG_011900.3:g.27400G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1464G>T MANE Select | ENSP00000339801.6:p.Met488Ile | |
| ENST00000651111.1:c.831G>T | ENSP00000498395.1:p.Met277Ile | |
| ENST00000340855.10:c.1464G>T | ENSP00000339801.6:p.Met488Ile | |
| ENST00000422081.6:c.831G>T | ENSP00000477056.1:p.Met277Ile | |
| NM_000202.6:c.1464G>T | NP_000193.1:p.Met488Ile | |
| NM_001166550.2:c.1194G>T | NP_001160022.1:p.Met398Ile | |
| NM_000202.7:c.1464G>T | NP_000193.1:p.Met488Ile | |
| NM_001166550.3:c.1194G>T | NP_001160022.1:p.Met398Ile | |
| NM_000202.8:c.1464G>T MANE Select | NP_000193.1:p.Met488Ile | |
| NM_001166550.4:c.1194G>T | NP_001160022.1:p.Met398Ile |