Revel Score:
ENST00000228438 (MANE Select)
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9857480T>A , CM000674.2:g.9857480T>A | GRCh38 |
| NC_000012.11:g.10010079T>A , CM000674.1:g.10010079T>A | GRCh37 |
| NC_000012.10:g.9901346T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228438.3:c.231A>T MANE Select | ENSP00000228438.2:p.Glu77Asp | |
| ENST00000228438.2:c.231A>T | ENSP00000228438.2:p.Glu77Asp | |
| ENST00000539028.1:n.308A>T | ||
| ENST00000540743.1:n.415A>T | ||
| NM_005127.2:c.231A>T | NP_005118.2:p.Glu77Asp | |
| NM_005127.3:c.231A>T MANE Select | NP_005118.2:p.Glu77Asp |