Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44107886C>A , CM000669.2:g.44107886C>A | GRCh38 |
| NC_000007.13:g.44147485C>A , CM000669.1:g.44147485C>A | GRCh37 |
| NC_000007.12:g.44114010C>A | NCBI36 |
| NG_056775.1:g.8567C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.817C>A MANE Select | NP_001120.3:p.Pro273Thr |
| ENST00000223357.8:c.817C>A MANE Select | ENSP00000223357.3:p.Pro273Thr |
| NM_001129.4:c.817C>A | NP_001120.3:p.Pro273Thr |
| ENST00000223357.7:c.817C>A | ENSP00000223357.3:p.Pro273Thr |
| ENST00000455443.5:c.540-121C>A | |
| XM_011515162.1:c.817C>A | XP_011513464.1:p.Pro273Thr |