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