Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910915G>T , CM000685.2:g.50910915G>T | GRCh38 |
| NC_000023.10:g.50653915G>T , CM000685.1:g.50653915G>T | GRCh37 |
| NC_000023.9:g.50670655G>T | NCBI36 |
| NG_012894.1:g.5132G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.132G>T MANE Select | ENSP00000252677.3:p.Leu44= | |
| ENST00000252677.3:c.132G>T | ENSP00000252677.3:p.Leu44= | |
| NM_005448.2:c.132G>T MANE Select | NP_005439.2:p.Leu44= |