Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536554C= , CM000679.2:g.42536554C= | GRCh38 |
| NC_000017.10:g.40688572C= , CM000679.1:g.40688572C= | GRCh37 |
| NC_000017.9:g.37942098C= | NCBI36 |
| NG_011552.1:g.5622C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.282C= MANE Select | ENSP00000225927.1:p.Arg94= | |
| ENST00000225927.6:c.282C= | ENSP00000225927.1:p.Arg94= | |
| ENST00000586516.5:c.32C= | ||
| ENST00000591587.1:c.25C= | ENSP00000467836.1:p.Arg9= | |
| NM_000263.3:c.282C= | NP_000254.2:p.Arg94= | |
| XM_006721920.2:c.-461C= | XP_006721983.1:n.-461C= | |
| XM_011524840.1:c.-461C= | XP_011523142.1:n.-461C= | |
| XM_024450771.1:c.282C= | XP_024306539.1:p.Arg94= | |
| NM_000263.4:c.282C= MANE Select | NP_000254.2:p.Arg94= |