Revel Score:
ENST00000380299
0.682
ENST00000417377
0.312
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232968T>A , CM000673.2:g.5232968T>A | GRCh38 |
| NC_000011.9:g.5254198T>A , CM000673.1:g.5254198T>A | GRCh37 |
| NC_000011.8:g.5210774T>A | NCBI36 |
| NG_000007.3:g.64648A>T | |
| NG_063112.2:g.15690A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.440A>T | ENSP00000494708.1:p.His147Leu | |
| ENST00000650601.1:c.440A>T MANE Select | ENSP00000497529.1:p.His147Leu | |
| ENST00000292901.7:c.316-170A>T | ENSP00000292901.3:n.316-170A>T | |
| ENST00000380299.3:c.440A>T | ENSP00000369654.3:p.His147Leu | |
| ENST00000417377.1:c.217A>T | ENSP00000414741.1:p.Ile73Phe | |
| NM_000519.3:c.440A>T | NP_000510.1:p.His147Leu | |
| NM_000519.4:c.440A>T MANE Select | NP_000510.1:p.His147Leu |