Revel Score:
ENST00000393655 (MANE Select)
0.965
ENST00000263046
0.965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50837977C>A , CM000668.2:g.50837977C>A | GRCh38 |
| NC_000006.11:g.50805690C>A , CM000668.1:g.50805690C>A | GRCh37 |
| NC_000006.10:g.50913649C>A | NCBI36 |
| NG_008438.1:g.24252C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.824C>A MANE Select | ENSP00000377265.2:p.Ala275Asp | |
| ENST00000393655.3:c.824C>A | ENSP00000377265.2:p.Ala275Asp | |
| NM_003221.3:c.824C>A | NP_003212.2:p.Ala275Asp | |
| XM_006715176.2:c.824C>A | XP_006715239.1:p.Ala275Asp | |
| XM_006715177.2:c.770C>A | XP_006715240.1:p.Ala257Asp | |
| XM_011514834.1:c.851C>A | XP_011513136.1:p.Ala284Asp | |
| XM_011514835.1:c.851C>A | XP_011513137.1:p.Ala284Asp | |
| XM_011514836.1:c.851C>A | XP_011513138.1:p.Ala284Asp | |
| XM_011514837.1:c.851C>A | XP_011513139.1:p.Ala284Asp | |
| XM_011514837.2:c.851C>A | XP_011513139.1:p.Ala284Asp | |
| XM_017011233.1:c.989C>A | XP_016866722.1:p.Ala330Asp | |
| XM_017011234.1:c.953C>A | XP_016866723.1:p.Ala318Asp | |
| XM_017011235.2:c.365C>A | XP_016866724.1:p.Ala122Asp | |
| NM_003221.4:c.824C>A MANE Select | NP_003212.2:p.Ala275Asp |