Revel Score:
ENST00000393056 (MANE Select)
0.823
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133647854G>T , CM000671.2:g.133647854G>T | GRCh38 |
| NC_000009.11:g.136512976G>T , CM000671.1:g.136512976G>T | GRCh37 |
| NC_000009.10:g.135502797G>T | NCBI36 |
| NG_008645.1:g.16492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1033G>T MANE Select | ENSP00000376776.2:p.Asp345Tyr | |
| ENST00000393056.6:c.1033G>T | ENSP00000376776.2:p.Asp345Tyr | |
| NM_000787.3:c.1033G>T | NP_000778.3:p.Asp345Tyr | |
| NM_000787.4:c.1033G>T MANE Select | NP_000778.3:p.Asp345Tyr |