Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740516G= , CM000666.2:g.67740516G= | GRCh38 |
| NC_000004.11:g.68606234G= , CM000666.1:g.68606234G= | GRCh37 |
| NC_000004.10:g.68288829G= | NCBI36 |
| NG_009293.1:g.20571C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.951C= MANE Select | ENSP00000226413.5:p.Cys317= | |
| ENST00000226413.4:c.951C= | ENSP00000226413.4:p.Cys317= | |
| ENST00000420975.2:c.823C= | ENSP00000397561.2:n.823C= | |
| NM_000406.2:c.951C= | NP_000397.1:p.Cys317= | |
| NM_001012763.1:c.*73C= | NP_001012781.1:n.*73C= | |
| NM_000406.3:c.951C= MANE Select | NP_000397.1:p.Cys317= | |
| NM_001012763.2:c.*73C= | NP_001012781.1:n.*73C= |