Revel Score:
ENST00000274813 (MANE Select)
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457872G>A , CM000668.2:g.49457872G>A | GRCh38 |
| NC_000006.11:g.49425585G>A , CM000668.1:g.49425585G>A | GRCh37 |
| NC_000006.10:g.49533544G>A | NCBI36 |
| NG_007100.1:g.10268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.572C>T MANE Select | ENSP00000274813.3:p.Ala191Val | |
| ENST00000274813.3:c.572C>T | ENSP00000274813.3:p.Ala191Val | |
| NM_000255.3:c.572C>T | NP_000246.2:p.Ala191Val | |
| XM_005249143.2:c.572C>T | XP_005249200.1:p.Ala191Val | |
| XM_005249143.3:c.572C>T | XP_005249200.1:p.Ala191Val | |
| NM_000255.4:c.572C>T MANE Select | NP_000246.2:p.Ala191Val |