Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665270C>T , CM000685.2:g.100665270C>T | GRCh38 |
| NC_000023.10:g.99920267C>T , CM000685.1:g.99920267C>T | GRCh37 |
| NC_000023.9:g.99806923C>T | NCBI36 |
| NG_021337.1:g.26105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.560C>T MANE Select | ENSP00000362095.3:p.Pro187Leu | |
| ENST00000638319.1:n.548C>T | ||
| ENST00000638458.1:c.584C>T | ENSP00000492168.1:p.Pro195Leu | |
| ENST00000638920.1:n.563C>T | ||
| ENST00000640889.1:c.560C>T | ENSP00000492571.1:p.Pro187Leu | |
| ENST00000677630.1:n.494C>T | ||
| ENST00000679590.1:n.593C>T | ||
| ENST00000373004.3:c.560C>T | ENSP00000362095.3:p.Pro187Leu | |
| NM_014467.2:c.560C>T | NP_055282.1:p.Pro187Leu | |
| XM_005262121.2:c.560C>T | XP_005262178.1:p.Pro187Leu | |
| NM_014467.3:c.560C>T MANE Select | NP_055282.1:p.Pro187Leu |