Revel Score:
ENST00000455106
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013364 (MID)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41819307C>A , CM000679.2:g.41819307C>A | GRCh38 |
| NC_000017.10:g.39975559C>A , CM000679.1:g.39975559C>A | GRCh37 |
| NC_000017.9:g.37229085C>A | NCBI36 |
| NG_015860.1:g.11598C>A , LRG_12:g.11598C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.727+780C>A | ENSP00000516497.1:n.727+780C>A | |
| ENST00000321562.9:c.825C>A MANE Select | ENSP00000317232.4:p.Leu275= | |
| ENST00000321562.8:c.825C>A | ENSP00000317232.4:p.Leu275= | |
| ENST00000455106.1:c.53C>A | ||
| ENST00000487489.1:n.438C>A | ||
| ENST00000489591.5:c.*235C>A | ENSP00000466352.1:n.*235C>A | |
| NM_021939.3:c.825C>A , LRG_12t1:c.825C>A | NP_068758.3:p.Leu275= | |
| XM_011525099.1:c.825C>A | XP_011523401.1:p.Leu275= | |
| XM_011525100.1:c.552C>A | XP_011523402.1:p.Leu184= | |
| XM_011525099.3:c.825C>A | XP_011523401.1:p.Leu275= | |
| XM_011525100.2:c.552C>A | XP_011523402.1:p.Leu184= | |
| NM_021939.4:c.825C>A MANE Select | NP_068758.3:p.Leu275= |