Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38360727A>T , CM000682.2:g.38360727A>T | GRCh38 |
| NG_034239.1:g.19317A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.612A>T MANE Select | ENSP00000217407.2:p.Ser204= | |
| ENST00000217407.2:c.612A>T | ENSP00000217407.2:p.Ser204= | |
| NM_004139.4:c.612A>T | NP_004130.2:p.Ser204= | |
| NM_004139.5:c.612A>T MANE Select | NP_004130.2:p.Ser204= |