Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740196A= , CM000666.2:g.67740196A= | GRCh38 |
| NC_000004.11:g.68605914A= , CM000666.1:g.68605914A= | GRCh37 |
| NC_000004.10:g.68288509A= | NCBI36 |
| NG_009293.1:g.20891T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*284T= MANE Select | ENSP00000226413.5:n.*284T= | |
| ENST00000226413.4:c.*284T= | ENSP00000226413.4:n.*284T= | |
| NM_000406.2:c.*284T= | NP_000397.1:n.*284T= | |
| NM_001012763.1:c.*393T= | NP_001012781.1:n.*393T= | |
| NM_000406.3:c.*284T= MANE Select | NP_000397.1:n.*284T= | |
| NM_001012763.2:c.*393T= | NP_001012781.1:n.*393T= |