Revel Score:
ENST00000328842
0.392
ENST00000310624 (MANE Select)
0.392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480509G>A , CM000684.2:g.29480509G>A | GRCh38 |
| NC_000022.10:g.29876498G>A , CM000684.1:g.29876498G>A | GRCh37 |
| NC_000022.9:g.28206498G>A | NCBI36 |
| NG_008404.1:g.5318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.247G>A MANE Select | ENSP00000311997.6:p.Gly83Arg | |
| ENST00000310624.6:c.247G>A | ENSP00000311997.6:p.Gly83Arg | |
| NM_021076.3:c.247G>A | NP_066554.2:p.Gly83Arg | |
| XM_011530200.1:c.247G>A | XP_011528502.1:p.Gly83Arg | |
| XM_011530200.2:c.247G>A | XP_011528502.1:p.Gly83Arg | |
| NM_021076.4:c.247G>A MANE Select | NP_066554.2:p.Gly83Arg |