Revel Score:
ENST00000455106
0.018
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002947 (EAS)
Genomes Max Group AF
0.00037961 (EAS)
Exomes Max Group AF
0.00023278 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41819596G>A , CM000679.2:g.41819596G>A | GRCh38 |
| NC_000017.10:g.39975848G>A , CM000679.1:g.39975848G>A | GRCh37 |
| NC_000017.9:g.37229374G>A | NCBI36 |
| NG_015860.1:g.11887G>A , LRG_12:g.11887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.728-673G>A | ENSP00000516497.1:n.728-673G>A | |
| ENST00000321562.9:c.984G>A MANE Select | ENSP00000317232.4:p.Gln328= | |
| ENST00000321562.8:c.984G>A | ENSP00000317232.4:p.Gln328= | |
| ENST00000455106.1:c.212G>A | ||
| ENST00000489591.5:c.*394G>A | ENSP00000466352.1:n.*394G>A | |
| NM_021939.3:c.984G>A , LRG_12t1:c.984G>A | NP_068758.3:p.Gln328= | |
| XM_011525099.1:c.984G>A | XP_011523401.1:p.Gln328= | |
| XM_011525100.1:c.711G>A | XP_011523402.1:p.Gln237= | |
| XM_011525099.3:c.984G>A | XP_011523401.1:p.Gln328= | |
| XM_011525100.2:c.711G>A | XP_011523402.1:p.Gln237= | |
| NM_021939.4:c.984G>A MANE Select | NP_068758.3:p.Gln328= |