Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351764C= , CM000671.2:g.133351764C= | GRCh38 |
| NC_000009.10:g.135208440C= | NCBI36 |
| NG_008477.1:g.9743G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.*149G= MANE Select | ENSP00000361042.3:n.*149G= | |
| ENST00000371974.7:c.*149G= | ENSP00000361042.3:n.*149G= | |
| NM_003172.4:c.*149G= MANE Select | NP_003163.1:n.*149G= |