Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123715C>A , CM000679.2:g.72123715C>A | GRCh38 |
| NC_000017.10:g.70119856C>A , CM000679.1:g.70119856C>A | GRCh37 |
| NC_000017.9:g.67631451C>A | NCBI36 |
| NG_012490.1:g.7696C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.858C>A MANE Select | ENSP00000245479.2:p.Ile286= | |
| ENST00000245479.2:c.858C>A | ENSP00000245479.2:p.Ile286= | |
| NM_000346.3:c.858C>A | NP_000337.1:p.Ile286= | |
| NM_000346.4:c.858C>A MANE Select | NP_000337.1:p.Ile286= |