Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392121C= , CM000663.2:g.17392121C= | GRCh38 |
| NG_032943.1:g.24876C= | |
| NG_032943.2:g.24876C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.970C= MANE Select | ENSP00000483125.1:p.Gln324= | |
| NM_207421.4:c.970C= MANE Select | NP_997304.3:p.Gln324= |