Revel Score:
ENST00000267622 (MANE Select)
0.101
ENST00000542257
0.101
ENST00000554357
0.114
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00134696 (EAS)
Genomes Max Group AF
0.00159404 (SAS)
Exomes Max Group AF
0.00129481 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92003817C>T , CM000676.2:g.92003817C>T | GRCh38 |
| NC_000014.8:g.92470161C>T , CM000676.1:g.92470161C>T | GRCh37 |
| NC_000014.7:g.91539914C>T | NCBI36 |
| NG_016970.1:g.41243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.4159G>A MANE Select | ENSP00000267622.4:p.Glu1387Lys | |
| ENST00000554357.5:c.3305G>A | ||
| NM_004239.3:c.4159G>A | NP_004230.2:p.Glu1387Lys | |
| XM_005268214.2:c.2833G>A | XP_005268271.1:p.Glu945Lys | |
| XM_005268215.2:c.1528-3709G>A | XP_005268272.1:n.1528-3709G>A | |
| XM_006720321.2:c.4156G>A | XP_006720384.1:p.Glu1386Lys | |
| XM_011537361.1:c.4159G>A | XP_011535663.1:p.Glu1387Lys | |
| XR_943560.1:n.4614G>A | ||
| NM_001321851.1:c.4156G>A | NP_001308780.1:p.Glu1386Lys | |
| NM_004239.4:c.4159G>A MANE Select | NP_004230.2:p.Glu1387Lys | |
| XM_017021787.2:c.3454G>A | XP_016877276.1:p.Glu1152Lys | |
| XM_017021788.2:c.2833G>A | XP_016877277.1:p.Glu945Lys | |
| XR_001750598.2:n.4608G>A | ||
| XR_943560.2:n.4608G>A |