Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286594C= , CM000666.2:g.80286594C= | GRCh38 |
| NC_000004.11:g.81207748C= , CM000666.1:g.81207748C= | GRCh37 |
| NC_000004.10:g.81426772C= | NCBI36 |
| NG_029501.1:g.25007C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.729C= MANE Select | ENSP00000311697.7:p.Ile243= | |
| ENST00000312465.11:c.729C= | ENSP00000311697.7:p.Ile243= | |
| ENST00000456523.3:c.*253C= | ENSP00000398353.3:n.*253C= | |
| ENST00000503413.1:n.678C= | ||
| ENST00000507780.1:c.342+11582C= | ENSP00000423903.1:n.342+11582C= | |
| NM_001291812.1:c.300C= | NP_001278741.1:p.Ile100= | |
| NM_004464.3:c.729C= | NP_004455.2:p.Ile243= | |
| NM_033143.2:c.*253C= | NP_149134.1:n.*253C= | |
| NM_001291812.2:c.300C= | NP_001278741.1:p.Ile100= | |
| NM_004464.4:c.729C= MANE Select | NP_004455.2:p.Ile243= |