Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21172782T= , CM000674.2:g.21172782T= | GRCh38 |
| NC_000012.11:g.21325716T= , CM000674.1:g.21325716T= | GRCh37 |
| NC_000012.10:g.21216983T= | NCBI36 |
| NG_011745.1:g.46589T= , LRG_1022:g.46589T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.217T= MANE Select | ENSP00000256958.2:p.Phe73= | |
| ENST00000256958.2:c.217T= | ENSP00000256958.2:p.Phe73= | |
| ENST00000543498.5:c.426-3994T= | ||
| NM_006446.4:c.217T= , LRG_1022t1:c.217T= | NP_006437.3:p.Phe73= | |
| NM_006446.5:c.217T= MANE Select | NP_006437.3:p.Phe73= |