Revel Score:
ENST00000308418 (MANE Select)
0.641
ENST00000527610
0.641
gnomAD v4:
Joint Max Group AF
0.00002908 (SAS)
Exomes Max Group AF
0.00003046 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720721C>T , CM000673.2:g.65720721C>T | GRCh38 |
| NC_000011.9:g.65488192C>T , CM000673.1:g.65488192C>T | GRCh37 |
| NC_000011.8:g.65244768C>T | NCBI36 |
| NG_008976.2:g.5218G>A , LRG_280:g.5218G>A | |
| NG_033057.1:g.13720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.38G>A MANE Select | ENSP00000308193.5:p.Arg13His | |
| ENST00000528220.2:n.98G>A | ||
| ENST00000531596.6:c.38G>A | ENSP00000435717.2:p.Arg13His | |
| ENST00000534482.6:c.38G>A | ENSP00000432081.2:p.Arg13His | |
| ENST00000644142.1:c.38G>A | ENSP00000493695.1:p.Arg13His | |
| ENST00000308418.8:c.38G>A | ENSP00000308193.4:p.Arg13His | |
| ENST00000527610.1:c.38G>A | ENSP00000432897.1:p.Arg13His | |
| ENST00000528220.1:c.-381G>A | ENSP00000431555.1:n.-381G>A | |
| ENST00000530192.1:n.78G>A | ||
| ENST00000531596.5:c.19G>A | ||
| NM_032193.3:c.38G>A , LRG_280t1:c.38G>A | NP_115569.2:p.Arg13His | |
| NM_032193.4:c.38G>A MANE Select | NP_115569.2:p.Arg13His |