Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536644C= , CM000679.2:g.42536644C= | GRCh38 |
| NC_000017.10:g.40688662C= , CM000679.1:g.40688662C= | GRCh37 |
| NC_000017.9:g.37942188C= | NCBI36 |
| NG_011552.1:g.5712C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.372C= MANE Select | ENSP00000225927.1:p.Ala124= | |
| ENST00000225927.6:c.372C= | ENSP00000225927.1:p.Ala124= | |
| ENST00000586516.5:c.122C= | ||
| ENST00000591587.1:c.115C= | ENSP00000467836.1:p.His39= | |
| NM_000263.3:c.372C= | NP_000254.2:p.Ala124= | |
| XM_006721920.2:c.-371C= | XP_006721983.1:n.-371C= | |
| XM_011524840.1:c.-371C= | XP_011523142.1:n.-371C= | |
| XM_024450771.1:c.372C= | XP_024306539.1:p.Ala124= | |
| NM_000263.4:c.372C= MANE Select | NP_000254.2:p.Ala124= |