Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506748G= , CM000672.2:g.122506748G= | GRCh38 |
| NC_000010.10:g.124266264G= , CM000672.1:g.124266264G= | GRCh37 |
| NC_000010.9:g.124256254G= | NCBI36 |
| NG_011554.1:g.50224G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.835G= MANE Select | ENSP00000357980.3:p.Val279= | |
| ENST00000648167.1:c.517G= | ENSP00000498033.1:p.Val173= | |
| ENST00000368984.7:c.835G= | ENSP00000357980.3:p.Val279= | |
| ENST00000420892.1:c.58G= | ENSP00000412676.1:p.Val20= | |
| NM_002775.4:c.835G= | NP_002766.1:p.Val279= | |
| NM_002775.5:c.835G= MANE Select | NP_002766.1:p.Val279= |