Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351766G= , CM000671.2:g.133351766G= | GRCh38 |
| NC_000009.10:g.135208442G= | NCBI36 |
| NG_008477.1:g.9741C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.*147C= MANE Select | ENSP00000361042.3:n.*147C= | |
| ENST00000371974.7:c.*147C= | ENSP00000361042.3:n.*147C= | |
| NM_003172.4:c.*147C= MANE Select | NP_003163.1:n.*147C= |