Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410714C>A , CM000677.2:g.48410714C>A | GRCh38 |
| NC_000015.9:g.48702911C>A , CM000677.1:g.48702911C>A | GRCh37 |
| NC_000015.8:g.46490203C>A | NCBI36 |
| NG_008805.2:g.240075G>T , LRG_778:g.240075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1700G>T | ENSP00000453958.2:n.*1700G>T | |
| ENST00000682158.1:n.2273G>T | ||
| ENST00000682170.1:n.3073G>T | ||
| ENST00000682767.1:n.2189G>T | ||
| ENST00000316623.10:c.*276G>T MANE Select | ENSP00000325527.5:n.*276G>T | |
| ENST00000316623.9:c.*276G>T | ENSP00000325527.5:n.*276G>T | |
| ENST00000559133.5:c.4261G>T | ||
| NM_000138.4:c.*276G>T , LRG_778t1:c.*276G>T | NP_000129.3:n.*276G>T | |
| NM_000138.5:c.*276G>T MANE Select | NP_000129.3:n.*276G>T |