Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766014G>A , CM000674.2:g.57766014G>A | GRCh38 |
| NC_000012.11:g.58159797G>A , CM000674.1:g.58159797G>A | GRCh37 |
| NC_000012.10:g.56446064G>A | NCBI36 |
| NG_007076.1:g.6180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.291C>T | ||
| ENST00000713544.1:c.379C>T | ENSP00000518840.1:p.Leu127Phe | |
| ENST00000713545.1:c.379C>T | ENSP00000518841.1:p.Leu127Phe | |
| ENST00000228606.9:c.379C>T MANE Select | ENSP00000228606.4:p.Leu127Phe | |
| ENST00000228606.8:c.379C>T | ENSP00000228606.4:p.Leu127Phe | |
| ENST00000546496.1:n.207C>T | ||
| ENST00000546609.1:c.291C>T | ||
| ENST00000547344.5:n.433C>T | ||
| ENST00000552186.1:n.498C>T | ||
| NM_000785.3:c.379C>T | NP_000776.1:p.Leu127Phe | |
| NM_000785.4:c.379C>T MANE Select | NP_000776.1:p.Leu127Phe |