Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44109112C>A , CM000669.2:g.44109112C>A | GRCh38 |
| NC_000007.13:g.44148711C>A , CM000669.1:g.44148711C>A | GRCh37 |
| NC_000007.12:g.44115236C>A | NCBI36 |
| NG_056775.1:g.9793C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1024C>A MANE Select | NP_001120.3:p.Pro342Thr |
| ENST00000223357.8:c.1024C>A MANE Select | ENSP00000223357.3:p.Pro342Thr |
| NM_001129.4:c.1024C>A | NP_001120.3:p.Pro342Thr |
| ENST00000223357.7:c.1024C>A | ENSP00000223357.3:p.Pro342Thr |
| ENST00000453052.1:c.52C>A | ENSP00000400660.1:p.Pro18Thr |
| ENST00000454218.1:n.6C>A | |
| ENST00000455443.5:c.701C>A | |
| XM_011515162.1:c.946C>A | XP_011513464.1:p.Pro316Thr |