Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62840609C>T , CM000682.2:g.62840609C>T | GRCh38 |
| NC_000020.10:g.61471961C>T , CM000682.1:g.61471961C>T | GRCh37 |
| NC_000020.9:g.60942406C>T | NCBI36 |
| NG_016353.1:g.28548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649368.1:c.1932C>T MANE Select | ENSP00000496793.1:p.Pro644= | |
| ENST00000343916.7:c.1932C>T | ENSP00000341640.3:p.Pro644= | |
| ENST00000462700.5:n.687C>T | ||
| ENST00000466192.5:n.1659C>T | ||
| ENST00000466532.1:n.490C>T | ||
| ENST00000467819.5:n.443C>T | ||
| NM_001853.3:c.1932C>T | NP_001844.3:p.Pro644= | |
| XM_011528543.1:c.1785C>T | XP_011526845.1:p.Pro595= | |
| XM_011528544.1:c.1725C>T | XP_011526846.1:p.Pro575= | |
| XR_936499.1:n.1869C>T | ||
| NM_001853.4:c.1932C>T MANE Select | NP_001844.3:p.Pro644= |