Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32159096C= , CM000665.2:g.32159096C= | GRCh38 |
| NC_000003.11:g.32200588C= , CM000665.1:g.32200588C= | GRCh37 |
| NC_000003.10:g.32175592C= | NCBI36 |
| NG_023375.1:g.57586C= , LRG_419:g.57586C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.839C= MANE Select | ENSP00000282541.6:p.Ala280= | |
| ENST00000282541.9:c.839C= | ENSP00000282541.5:p.Ala280= | |
| ENST00000428684.1:c.*466C= | ENSP00000392199.1:n.*466C= | |
| ENST00000474846.5:n.763C= | ||
| ENST00000496151.1:n.340C= | ||
| NM_015141.3:c.839C= , LRG_419t1:c.839C= | NP_055956.1:p.Ala280= | |
| XM_005264983.2:c.619-472C= | XP_005265040.1:n.619-472C= | |
| XM_006713068.2:c.698C= | XP_006713131.1:p.Ala233= | |
| NM_015141.4:c.839C= MANE Select | NP_055956.1:p.Ala280= |