Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740338A= , CM000666.2:g.67740338A= | GRCh38 |
| NC_000004.11:g.68606056A= , CM000666.1:g.68606056A= | GRCh37 |
| NC_000004.10:g.68288651A= | NCBI36 |
| NG_009293.1:g.20749T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*142T= MANE Select | ENSP00000226413.5:n.*142T= | |
| ENST00000226413.4:c.*142T= | ENSP00000226413.4:n.*142T= | |
| NM_000406.2:c.*142T= | NP_000397.1:n.*142T= | |
| NM_001012763.1:c.*251T= | NP_001012781.1:n.*251T= | |
| NM_000406.3:c.*142T= MANE Select | NP_000397.1:n.*142T= | |
| NM_001012763.2:c.*251T= | NP_001012781.1:n.*251T= |