Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128333565C= , CM000671.2:g.128333565C= | GRCh38 |
| NC_000009.11:g.131095844C= , CM000671.1:g.131095844C= | GRCh37 |
| NC_000009.10:g.130135665C= | NCBI36 |
| NG_042101.1:g.16058C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016035.5:c.718C= MANE Select | NP_057119.3:p.Arg240= |
| ENST00000300452.8:c.718C= MANE Select | ENSP00000300452.3:p.Arg240= |
| NM_001305942.1:c.*94C= | NP_001292871.1:n.*94C= |
| NM_001305942.2:c.*94C= | NP_001292871.2:n.*94C= |
| NM_016035.3:c.718C= | NP_057119.2:p.Arg240= |
| NM_016035.4:c.718C= | NP_057119.2:p.Arg240= |
| ENST00000300452.7:c.718C= | ENSP00000300452.3:p.Arg240= |
| ENST00000461102.1:n.2624C= | |
| XR_001746316.2:n.971C= | |
| XR_929805.1:n.934C= | |
| XR_929805.3:n.934C= |