Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045935G>T , CM000674.2:g.5045935G>T | GRCh38 |
| NC_000012.11:g.5155101G>T , CM000674.1:g.5155101G>T | GRCh37 |
| NC_000012.10:g.5025362G>T | NCBI36 |
| NG_012198.1:g.7017G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1788G>T MANE Select | ENSP00000252321.3:p.Leu596Phe | |
| ENST00000252321.4:c.1788G>T | ENSP00000252321.3:p.Leu596Phe | |
| NM_002234.3:c.1788G>T | NP_002225.2:p.Leu596Phe | |
| NM_002234.4:c.1788G>T MANE Select | NP_002225.2:p.Leu596Phe |