Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911074G>A , CM000685.2:g.50911074G>A | GRCh38 |
| NC_000023.10:g.50654074G>A , CM000685.1:g.50654074G>A | GRCh37 |
| NC_000023.9:g.50670814G>A | NCBI36 |
| NG_012894.1:g.5291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.291G>A MANE Select | ENSP00000252677.3:p.Leu97= | |
| ENST00000252677.3:c.291G>A | ENSP00000252677.3:p.Leu97= | |
| NM_005448.2:c.291G>A MANE Select | NP_005439.2:p.Leu97= |