Revel Score:
ENST00000348749 (MANE Select)
0.976
ENST00000261007
0.976
ENST00000409542
0.976
ENST00000409219
0.976
ENST00000409323
0.976
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174753595C>A , CM000664.2:g.174753595C>A | GRCh38 |
| NC_000002.11:g.175618323C>A , CM000664.1:g.175618323C>A | GRCh37 |
| NC_000002.10:g.175326569C>A | NCBI36 |
| NG_008172.1:g.15878G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.197G>T | ENSP00000490338.2:p.Arg66Leu | |
| ENST00000672640.1:c.197G>T | ENSP00000500507.1:p.Arg66Leu | |
| ENST00000261007.9:c.761G>T | ENSP00000261007.5:p.Arg254Leu | |
| ENST00000348749.9:c.686G>T MANE Select | ENSP00000261008.5:p.Arg229Leu | |
| ENST00000409219.5:c.686G>T | ENSP00000386611.1:p.Arg229Leu | |
| ENST00000409323.1:c.686G>T | ENSP00000386684.1:p.Arg229Leu | |
| ENST00000409542.5:c.440G>T | ENSP00000387026.1:p.Arg147Leu | |
| ENST00000435083.5:c.*330G>T | ENSP00000395805.1:n.*330G>T | |
| NM_000079.3:c.686G>T | NP_000070.1:p.Arg229Leu | |
| NM_001039523.2:c.761G>T | NP_001034612.1:p.Arg254Leu | |
| XM_017003256.1:c.782G>T | XP_016858745.1:p.Arg261Leu | |
| XM_017003257.1:c.707G>T | XP_016858746.1:p.Arg236Leu | |
| NM_000079.4:c.686G>T MANE Select | NP_000070.1:p.Arg229Leu | |
| NM_001039523.3:c.761G>T | NP_001034612.1:p.Arg254Leu |