Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410861G>A , CM000677.2:g.48410861G>A | GRCh38 |
| NC_000015.9:g.48703058G>A , CM000677.1:g.48703058G>A | GRCh37 |
| NC_000015.8:g.46490350G>A | NCBI36 |
| NG_008805.2:g.239928C>T , LRG_778:g.239928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1553C>T | ENSP00000453958.2:n.*1553C>T | |
| ENST00000682158.1:n.2126C>T | ||
| ENST00000682170.1:n.2926C>T | ||
| ENST00000682767.1:n.2042C>T | ||
| ENST00000316623.10:c.*129C>T MANE Select | ENSP00000325527.5:n.*129C>T | |
| ENST00000316623.9:c.*129C>T | ENSP00000325527.5:n.*129C>T | |
| ENST00000559133.5:c.4114C>T | ||
| NM_000138.4:c.*129C>T , LRG_778t1:c.*129C>T | NP_000129.3:n.*129C>T | |
| NM_000138.5:c.*129C>T MANE Select | NP_000129.3:n.*129C>T |