Revel Score:
ENST00000287598 (MANE Select)
0.386
ENST00000412359
0.386
ENST00000442874
0.386
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40212643C>T , CM000677.2:g.40212643C>T | GRCh38 |
| NC_000015.9:g.40504844C>T , CM000677.1:g.40504844C>T | GRCh37 |
| NC_000015.8:g.38292136C>T | NCBI36 |
| NG_016338.1:g.56635C>T , LRG_489:g.56635C>T | |
| NG_033169.1:g.216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2530C>T MANE Select | ENSP00000287598.7:p.Leu844Phe | |
| ENST00000287598.10:c.2530C>T | ENSP00000287598.6:p.Leu844Phe | |
| ENST00000412359.7:c.2572C>T | ENSP00000398470.3:p.Leu858Phe | |
| NM_001211.5:c.2530C>T , LRG_489t1:c.2530C>T | NP_001202.4:p.Leu844Phe | |
| XR_001751506.1:n.217+26842G>A | ||
| NM_001211.6:c.2530C>T MANE Select | NP_001202.5:p.Leu844Phe |