Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62837208C>T , CM000682.2:g.62837208C>T | GRCh38 |
| NC_000020.10:g.61468560C>T , CM000682.1:g.61468560C>T | GRCh37 |
| NC_000020.9:g.60939005C>T | NCBI36 |
| NG_016353.1:g.25147C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001853.4:c.1729C>T MANE Select | NP_001844.3:p.Arg577Ter |
| ENST00000649368.1:c.1729C>T MANE Select | ENSP00000496793.1:p.Arg577Ter |
| NM_001853.3:c.1729C>T | NP_001844.3:p.Arg577Ter |
| ENST00000343916.7:c.1729C>T | ENSP00000341640.3:p.Arg577Ter |
| ENST00000462700.5:n.484C>T | |
| ENST00000466192.5:n.1456C>T | |
| ENST00000466532.1:n.287C>T | |
| ENST00000467819.5:n.240C>T | |
| XM_011528543.1:c.1582C>T | XP_011526845.1:p.Arg528Ter |
| XM_011528544.1:c.1522C>T | XP_011526846.1:p.Arg508Ter |
| XR_936499.1:n.1666C>T |