Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32159074C= , CM000665.2:g.32159074C= | GRCh38 |
| NC_000003.11:g.32200566C= , CM000665.1:g.32200566C= | GRCh37 |
| NC_000003.10:g.32175570C= | NCBI36 |
| NG_023375.1:g.57564C= , LRG_419:g.57564C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.817C= MANE Select | ENSP00000282541.6:p.Arg273= | |
| ENST00000282541.9:c.817C= | ENSP00000282541.5:p.Arg273= | |
| ENST00000428684.1:c.*444C= | ENSP00000392199.1:n.*444C= | |
| ENST00000474846.5:n.741C= | ||
| ENST00000496151.1:n.318C= | ||
| NM_015141.3:c.817C= , LRG_419t1:c.817C= | NP_055956.1:p.Arg273= | |
| XM_005264983.2:c.619-494C= | XP_005265040.1:n.619-494C= | |
| XM_006713068.2:c.676C= | XP_006713131.1:p.Arg226= | |
| NM_015141.4:c.817C= MANE Select | NP_055956.1:p.Arg273= |