Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506802G= , CM000672.2:g.122506802G= | GRCh38 |
| NC_000010.10:g.124266318G= , CM000672.1:g.124266318G= | GRCh37 |
| NC_000010.9:g.124256308G= | NCBI36 |
| NG_011554.1:g.50278G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002775.5:c.889G= MANE Select | NP_002766.1:p.Val297= |
| ENST00000368984.8:c.889G= MANE Select | ENSP00000357980.3:p.Val297= |
| NM_002775.4:c.889G= | NP_002766.1:p.Val297= |
| ENST00000368984.7:c.889G= | ENSP00000357980.3:p.Val297= |
| ENST00000420892.1:c.112G= | ENSP00000412676.1:p.Val38= |
| ENST00000648167.1:c.571G= | ENSP00000498033.1:p.Val191= |