Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461666G= , CM000672.2:g.122461666G= | GRCh38 |
| NC_000010.10:g.124221182G= , CM000672.1:g.124221182G= | GRCh37 |
| NC_000010.9:g.124211172G= | NCBI36 |
| NG_011554.1:g.5142G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.14G= MANE Select | ENSP00000357980.3:p.Arg5= | |
| ENST00000648167.1:c.154+2957G= | ENSP00000498033.1:n.154+2957G= | |
| ENST00000368984.7:c.14G= | ENSP00000357980.3:p.Arg5= | |
| NM_002775.4:c.14G= | NP_002766.1:p.Arg5= | |
| NM_002775.5:c.14G= MANE Select | NP_002766.1:p.Arg5= |