Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811497C= , CM000677.2:g.71811497C= | GRCh38 |
| NC_000015.9:g.72103837C= , CM000677.1:g.72103837C= | GRCh37 |
| NC_000015.8:g.69890891C= | NCBI36 |
| NG_009113.2:g.5943C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.133C= MANE Select | ENSP00000482504.1:p.Leu45= | |
| ENST00000617575.4:c.133C= | ENSP00000482504.1:p.Leu45= | |
| ENST00000621098.1:c.133C= | ENSP00000479962.1:p.Leu45= | |
| ENST00000621736.4:c.-132C= | ENSP00000479254.1:n.-132C= | |
| NM_014249.3:c.133C= | NP_055064.1:p.Leu45= | |
| NM_016346.3:c.133C= | NP_057430.1:p.Leu45= | |
| XM_011521146.1:c.-132C= | XP_011519448.1:n.-132C= | |
| NM_014249.4:c.133C= MANE Select | NP_055064.1:p.Leu45= | |
| NM_016346.4:c.133C= | NP_057430.1:p.Leu45= |