Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740230T= , CM000666.2:g.67740230T= | GRCh38 |
| NC_000004.11:g.68605948T= , CM000666.1:g.68605948T= | GRCh37 |
| NC_000004.10:g.68288543T= | NCBI36 |
| NG_009293.1:g.20857A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*250A= MANE Select | ENSP00000226413.5:n.*250A= | |
| ENST00000226413.4:c.*250A= | ENSP00000226413.4:n.*250A= | |
| NM_000406.2:c.*250A= | NP_000397.1:n.*250A= | |
| NM_001012763.1:c.*359A= | NP_001012781.1:n.*359A= | |
| NM_000406.3:c.*250A= MANE Select | NP_000397.1:n.*250A= | |
| NM_001012763.2:c.*359A= | NP_001012781.1:n.*359A= |