Revel Score:
ENST00000311322
0.938
ENST00000538071
0.938
ENST00000535763
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954183A>T , CM000670.2:g.19954183A>T | GRCh38 |
| NC_000008.10:g.19811694A>T , CM000670.1:g.19811694A>T | GRCh37 |
| NC_000008.9:g.19855974A>T | NCBI36 |
| NG_008855.1:g.20113A>T | |
| NG_008855.2:g.57467A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.605A>T MANE Select | ENSP00000497642.1:p.Asp202Val | |
| ENST00000311322.8:c.605A>T | ENSP00000309757.6:p.Asp202Val | |
| NM_000237.2:c.605A>T | NP_000228.1:p.Asp202Val | |
| NM_000237.3:c.605A>T MANE Select | NP_000228.1:p.Asp202Val |