Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410976C>A , CM000677.2:g.48410976C>A | GRCh38 |
| NC_000015.9:g.48703173C>A , CM000677.1:g.48703173C>A | GRCh37 |
| NC_000015.8:g.46490465C>A | NCBI36 |
| NG_008805.2:g.239813G>T , LRG_778:g.239813G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1438G>T | ENSP00000453958.2:n.*1438G>T | |
| ENST00000682158.1:n.2011G>T | ||
| ENST00000682170.1:n.2811G>T | ||
| ENST00000682767.1:n.1927G>T | ||
| ENST00000316623.10:c.*14G>T MANE Select | ENSP00000325527.5:n.*14G>T | |
| ENST00000316623.9:c.*14G>T | ENSP00000325527.5:n.*14G>T | |
| ENST00000559133.5:c.3999G>T | ||
| NM_000138.4:c.*14G>T , LRG_778t1:c.*14G>T | NP_000129.3:n.*14G>T | |
| NM_000138.5:c.*14G>T MANE Select | NP_000129.3:n.*14G>T |