Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351795A= , CM000671.2:g.133351795A= | GRCh38 |
| NC_000009.10:g.135208471A= | NCBI36 |
| NG_008477.1:g.9712T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.*118T= MANE Select | ENSP00000361042.3:n.*118T= | |
| ENST00000371974.7:c.*118T= | ENSP00000361042.3:n.*118T= | |
| NM_003172.4:c.*118T= MANE Select | NP_003163.1:n.*118T= |