Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740410T= , CM000666.2:g.67740410T= | GRCh38 |
| NC_000004.11:g.68606128T= , CM000666.1:g.68606128T= | GRCh37 |
| NC_000004.10:g.68288723T= | NCBI36 |
| NG_009293.1:g.20677A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*70A= MANE Select | ENSP00000226413.5:n.*70A= | |
| ENST00000226413.4:c.*70A= | ENSP00000226413.4:n.*70A= | |
| NM_000406.2:c.*70A= | NP_000397.1:n.*70A= | |
| NM_001012763.1:c.*179A= | NP_001012781.1:n.*179A= | |
| NM_000406.3:c.*70A= MANE Select | NP_000397.1:n.*70A= | |
| NM_001012763.2:c.*179A= | NP_001012781.1:n.*179A= |