Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740632A= , CM000666.2:g.67740632A= | GRCh38 |
| NC_000004.11:g.68606350A= , CM000666.1:g.68606350A= | GRCh37 |
| NC_000004.10:g.68288945A= | NCBI36 |
| NG_009293.1:g.20455T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.835T= MANE Select | ENSP00000226413.5:p.Cys279= | |
| ENST00000226413.4:c.835T= | ENSP00000226413.4:p.Cys279= | |
| ENST00000420975.2:c.707T= | ENSP00000397561.2:p.Leu236= | |
| NM_000406.2:c.835T= | NP_000397.1:p.Cys279= | |
| NM_001012763.1:c.707T= | NP_001012781.1:p.Leu236= | |
| NM_000406.3:c.835T= MANE Select | NP_000397.1:p.Cys279= | |
| NM_001012763.2:c.707T= | NP_001012781.1:p.Leu236= |