Revel Score:
ENST00000441464
0.107
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168305136C>T , CM000663.2:g.168305136C>T | GRCh38 |
| NC_000001.10:g.168274374C>T , CM000663.1:g.168274374C>T | GRCh37 |
| NC_000001.9:g.166540998C>T | NCBI36 |
| NG_008244.1:g.29097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.856C>T MANE Select | ENSP00000356795.3:p.Arg286Ter | |
| ENST00000367821.7:c.856C>T | ENSP00000356795.3:p.Arg286Ter | |
| ENST00000431969.5:c.525-3606C>T | ||
| ENST00000441464.1:c.353C>T | ||
| NM_005149.2:c.856C>T | NP_005140.1:p.Arg286Ter | |
| NM_005149.3:c.856C>T MANE Select | NP_005140.1:p.Arg286Ter |