Revel Score:
ENST00000262424 (MANE Select)
0.561
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84867039G>C , CM000678.2:g.84867039G>C | GRCh38 |
| NC_000016.9:g.84900645G>C , CM000678.1:g.84900645G>C | GRCh37 |
| NC_000016.8:g.83458146G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262424.10:c.852G>C MANE Select | ENSP00000262424.5:p.Met284Ile | |
| ENST00000262424.9:c.852G>C | ENSP00000262424.5:p.Met284Ile | |
| ENST00000563066.5:c.381G>C | ENSP00000456952.1:p.Met127Ile | |
| ENST00000564567.5:c.852G>C | ENSP00000457655.1:p.Met284Ile | |
| ENST00000567845.5:c.849G>C | ENSP00000457183.1:p.Met283Ile | |
| ENST00000569262.5:n.1043G>C | ||
| NM_031476.3:c.852G>C | NP_113664.1:p.Met284Ile | |
| XM_005256190.1:c.852G>C | XP_005256247.1:p.Met284Ile | |
| XM_024450463.1:c.852G>C | XP_024306231.1:p.Met284Ile | |
| NM_031476.4:c.852G>C MANE Select | NP_113664.1:p.Met284Ile |