Revel Score:
ENST00000545448
0.058
ENST00000260682 (MANE Select)
0.058
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013675 (SAS)
Exomes Max Group AF
0.00013477 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94938737C>A , CM000672.2:g.94938737C>A | GRCh38 |
| NC_000010.10:g.96698494C>A , CM000672.1:g.96698494C>A | GRCh37 |
| NC_000010.9:g.96688484C>A | NCBI36 |
| NG_008385.1:g.5080C>A | |
| NG_008385.2:g.5580C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.55C>A MANE Select | ENSP00000260682.6:p.Leu19Ile | |
| ENST00000643112.1:c.55C>A | ENSP00000496202.1:p.Leu19Ile | |
| ENST00000260682.6:c.55C>A | ENSP00000260682.6:p.Leu19Ile | |
| ENST00000461906.1:n.80C>A | ||
| NM_000771.3:c.55C>A | NP_000762.2:p.Leu19Ile | |
| NM_000771.4:c.55C>A MANE Select | NP_000762.2:p.Leu19Ile |