Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740656C= , CM000666.2:g.67740656C= | GRCh38 |
| NC_000004.11:g.68606374C= , CM000666.1:g.68606374C= | GRCh37 |
| NC_000004.10:g.68288969C= | NCBI36 |
| NG_009293.1:g.20431G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.811G= MANE Select | ENSP00000226413.5:p.Ala271= | |
| ENST00000226413.4:c.811G= | ENSP00000226413.4:p.Ala271= | |
| ENST00000420975.2:c.683G= | ENSP00000397561.2:p.Cys228= | |
| NM_000406.2:c.811G= | NP_000397.1:p.Ala271= | |
| NM_001012763.1:c.683G= | NP_001012781.1:p.Cys228= | |
| NM_000406.3:c.811G= MANE Select | NP_000397.1:p.Ala271= | |
| NM_001012763.2:c.683G= | NP_001012781.1:p.Cys228= |