Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740176A= , CM000666.2:g.67740176A= | GRCh38 |
| NC_000004.11:g.68605894A= , CM000666.1:g.68605894A= | GRCh37 |
| NC_000004.10:g.68288489A= | NCBI36 |
| NG_009293.1:g.20911T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*304T= MANE Select | ENSP00000226413.5:n.*304T= | |
| ENST00000226413.4:c.*304T= | ENSP00000226413.4:n.*304T= | |
| NM_000406.2:c.*304T= | NP_000397.1:n.*304T= | |
| NM_001012763.1:c.*413T= | NP_001012781.1:n.*413T= | |
| NM_000406.3:c.*304T= MANE Select | NP_000397.1:n.*304T= | |
| NM_001012763.2:c.*413T= | NP_001012781.1:n.*413T= |