Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124037C>A , CM000679.2:g.72124037C>A | GRCh38 |
| NC_000017.10:g.70120178C>A , CM000679.1:g.70120178C>A | GRCh37 |
| NC_000017.9:g.67631773C>A | NCBI36 |
| NG_012490.1:g.8018C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245479.3:c.1180C>A MANE Select | ENSP00000245479.2:p.Arg394= | |
| ENST00000245479.2:c.1180C>A | ENSP00000245479.2:p.Arg394= | |
| NM_000346.3:c.1180C>A | NP_000337.1:p.Arg394= | |
| NM_000346.4:c.1180C>A MANE Select | NP_000337.1:p.Arg394= |