Revel Score:
ENST00000325874
0.092
ENST00000394744
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00004088 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31434082C>T , CM000679.2:g.31434082C>T | GRCh38 |
| NC_000017.10:g.29761100C>T , CM000679.1:g.29761100C>T | GRCh37 |
| NC_000017.9:g.26785226C>T | NCBI36 |
| NG_051977.1:g.47459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621161.5:c.296C>T MANE Select | ENSP00000482620.1:p.Thr99Met | |
| ENST00000579908.1:n.137C>T | ||
| ENST00000582009.5:c.164C>T | ENSP00000463206.1:p.Thr55Met | |
| ENST00000621161.4:c.296C>T | ENSP00000482620.1:p.Thr99Met | |
| NM_032932.5:c.296C>T | NP_116321.2:p.Thr99Met | |
| NM_032932.6:c.296C>T MANE Select | NP_116321.2:p.Thr99Met |