Revel Score:
ENST00000357164 (MANE Select)
0.631
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151267375G>T , CM000667.2:g.151267375G>T | GRCh38 |
| NC_000005.9:g.150646936G>T , CM000667.1:g.150646936G>T | GRCh37 |
| NC_000005.8:g.150627129G>T | NCBI36 |
| NG_009059.1:g.19324G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.506G>T MANE Select | ENSP00000349687.3:p.Arg169Leu | |
| ENST00000357164.3:c.506G>T | ENSP00000349687.3:p.Arg169Leu | |
| NM_000405.4:c.506G>T | NP_000396.2:p.Arg169Leu | |
| NM_001167607.1:c.413-117G>T | NP_001161079.1:n.413-117G>T | |
| NM_000405.5:c.506G>T MANE Select | NP_000396.2:p.Arg169Leu | |
| NM_001167607.2:c.413-117G>T | NP_001161079.1:n.413-117G>T | |
| NM_001167607.3:c.413-117G>T | NP_001161079.1:n.413-117G>T |