Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410649T>A , CM000677.2:g.48410649T>A | GRCh38 |
| NC_000015.9:g.48702846T>A , CM000677.1:g.48702846T>A | GRCh37 |
| NC_000015.8:g.46490138T>A | NCBI36 |
| NG_008805.2:g.240140A>T , LRG_778:g.240140A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1765A>T | ENSP00000453958.2:n.*1765A>T | |
| ENST00000682158.1:n.2338A>T | ||
| ENST00000682170.1:n.3138A>T | ||
| ENST00000682767.1:n.2254A>T | ||
| ENST00000316623.10:c.*341A>T MANE Select | ENSP00000325527.5:n.*341A>T | |
| ENST00000316623.9:c.*341A>T | ENSP00000325527.5:n.*341A>T | |
| ENST00000559133.5:c.4326A>T | ||
| NM_000138.4:c.*341A>T , LRG_778t1:c.*341A>T | NP_000129.3:n.*341A>T | |
| NM_000138.5:c.*341A>T MANE Select | NP_000129.3:n.*341A>T |