Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62840605C>T , CM000682.2:g.62840605C>T | GRCh38 |
| NC_000020.10:g.61471957C>T , CM000682.1:g.61471957C>T | GRCh37 |
| NC_000020.9:g.60942402C>T | NCBI36 |
| NG_016353.1:g.28544C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001853.4:c.1928C>T MANE Select | NP_001844.3:p.Pro643Leu |
| ENST00000649368.1:c.1928C>T MANE Select | ENSP00000496793.1:p.Pro643Leu |
| NM_001853.3:c.1928C>T | NP_001844.3:p.Pro643Leu |
| ENST00000343916.7:c.1928C>T | ENSP00000341640.3:p.Pro643Leu |
| ENST00000462700.5:n.683C>T | |
| ENST00000466192.5:n.1655C>T | |
| ENST00000466532.1:n.486C>T | |
| ENST00000467819.5:n.439C>T | |
| XM_011528543.1:c.1781C>T | XP_011526845.1:p.Pro594Leu |
| XM_011528544.1:c.1721C>T | XP_011526846.1:p.Pro574Leu |
| XR_936499.1:n.1865C>T |