Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410211G>A , CM000677.2:g.48410211G>A | GRCh38 |
| NC_000015.9:g.48702408G>A , CM000677.1:g.48702408G>A | GRCh37 |
| NC_000015.8:g.46489700G>A | NCBI36 |
| NG_008805.2:g.240578C>T , LRG_778:g.240578C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.*779C>T MANE Select | NP_000129.3:n.*779C>T |
| ENST00000316623.10:c.*779C>T MANE Select | ENSP00000325527.5:n.*779C>T |
| NM_000138.4:c.*779C>T , LRG_778t1:c.*779C>T | NP_000129.3:n.*779C>T |
| ENST00000316623.9:c.*779C>T | ENSP00000325527.5:n.*779C>T |
| ENST00000559133.5:c.4764C>T | |
| ENST00000559133.6:c.*2203C>T | ENSP00000453958.2:n.*2203C>T |
| ENST00000682158.1:n.2776C>T | |
| ENST00000682170.1:n.3576C>T | |
| ENST00000682767.1:n.2692C>T |