Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40212636C>T , CM000677.2:g.40212636C>T | GRCh38 |
| NC_000015.9:g.40504837C>T , CM000677.1:g.40504837C>T | GRCh37 |
| NC_000015.8:g.38292129C>T | NCBI36 |
| NG_016338.1:g.56628C>T , LRG_489:g.56628C>T | |
| NG_033169.1:g.209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2523C>T MANE Select | ENSP00000287598.7:p.Cys841= | |
| ENST00000287598.10:c.2523C>T | ENSP00000287598.6:p.Cys841= | |
| ENST00000412359.7:c.2565C>T | ENSP00000398470.3:p.Cys855= | |
| NM_001211.5:c.2523C>T , LRG_489t1:c.2523C>T | NP_001202.4:p.Cys841= | |
| XR_001751506.1:n.217+26849G>A | ||
| NM_001211.6:c.2523C>T MANE Select | NP_001202.5:p.Cys841= |