Revel Score:
ENST00000554357
0.379
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00091716 (AMR)
Genomes Max Group AF
0.00157885 (AMR)
Exomes Max Group AF
0.00057806 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92006202G>A , CM000676.2:g.92006202G>A | GRCh38 |
| NC_000014.8:g.92472546G>A , CM000676.1:g.92472546G>A | GRCh37 |
| NC_000014.7:g.91542299G>A | NCBI36 |
| NG_016970.1:g.38858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.1774C>T MANE Select | ENSP00000267622.4:p.Leu592= | |
| ENST00000554357.5:c.920C>T | ||
| NM_004239.3:c.1774C>T | NP_004230.2:p.Leu592= | |
| XM_005268214.2:c.448C>T | XP_005268271.1:p.Leu150= | |
| XM_005268215.2:c.1527+1438C>T | XP_005268272.1:n.1527+1438C>T | |
| XM_006720321.2:c.1771C>T | XP_006720384.1:p.Leu591= | |
| XM_011537361.1:c.1774C>T | XP_011535663.1:p.Leu592= | |
| XR_943560.1:n.2229C>T | ||
| NM_001321851.1:c.1771C>T | NP_001308780.1:p.Leu591= | |
| NM_004239.4:c.1774C>T MANE Select | NP_004230.2:p.Leu592= | |
| XM_017021787.2:c.1069C>T | XP_016877276.1:p.Leu357= | |
| XM_017021788.2:c.448C>T | XP_016877277.1:p.Leu150= | |
| XR_001750598.2:n.2223C>T | ||
| XR_943560.2:n.2223C>T |