Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17849727C>A , CM000672.2:g.17849727C>A | GRCh38 |
| NG_047011.1:g.45385C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000569591.3:c.1212C>A MANE Select | ENSP00000455897.1:p.Ile404= | |
| ENST00000569591.2:c.1212C>A | ENSP00000455897.1:p.Ile404= | |
| NM_002438.3:c.1212C>A | NP_002429.1:p.Ile404= | |
| NM_002438.4:c.1212C>A MANE Select | NP_002429.1:p.Ile404= |