Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62837235A>C , CM000682.2:g.62837235A>C | GRCh38 |
| NC_000020.10:g.61468587A>C , CM000682.1:g.61468587A>C | GRCh37 |
| NC_000020.9:g.60939032A>C | NCBI36 |
| NG_016353.1:g.25174A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001853.4:c.1756A>C MANE Select | NP_001844.3:p.Thr586Pro |
| ENST00000649368.1:c.1756A>C MANE Select | ENSP00000496793.1:p.Thr586Pro |
| NM_001853.3:c.1756A>C | NP_001844.3:p.Thr586Pro |
| ENST00000343916.7:c.1756A>C | ENSP00000341640.3:p.Thr586Pro |
| ENST00000462700.5:n.511A>C | |
| ENST00000466192.5:n.1483A>C | |
| ENST00000466532.1:n.314A>C | |
| ENST00000467819.5:n.267A>C | |
| XM_011528543.1:c.1609A>C | XP_011526845.1:p.Thr537Pro |
| XM_011528544.1:c.1549A>C | XP_011526846.1:p.Thr517Pro |
| XR_936499.1:n.1693A>C |