Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221587A= , CM000671.2:g.99221587A= | GRCh38 |
| NC_000009.11:g.101983869A= , CM000671.1:g.101983869A= | GRCh37 |
| NC_000009.10:g.101023690A= | NCBI36 |
| NG_008928.1:g.5378T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.308T= MANE Select | ENSP00000417764.1:p.Phe103= | |
| ENST00000238477.5:c.308T= | ENSP00000432675.2:p.Phe103= | |
| ENST00000476832.1:c.308T= | ENSP00000417764.1:p.Phe103= | |
| NM_033087.3:c.308T= | NP_149078.1:p.Phe103= | |
| NR_024532.1:n.378T= | ||
| NM_033087.4:c.308T= MANE Select | NP_149078.1:p.Phe103= | |
| NR_024532.2:n.356T= |