Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411076G>A , CM000677.2:g.48411076G>A | GRCh38 |
| NC_000015.9:g.48703273G>A , CM000677.1:g.48703273G>A | GRCh37 |
| NC_000015.8:g.46490565G>A | NCBI36 |
| NG_008805.2:g.239713C>T , LRG_778:g.239713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1338C>T | ENSP00000453958.2:n.*1338C>T | |
| ENST00000682158.1:n.1911C>T | ||
| ENST00000682170.1:n.2711C>T | ||
| ENST00000682767.1:n.1827C>T | ||
| ENST00000316623.10:c.8530C>T MANE Select | ENSP00000325527.5:p.Gln2844Ter | |
| ENST00000316623.9:c.8530C>T | ENSP00000325527.5:p.Gln2844Ter | |
| ENST00000559133.5:c.3899C>T | ||
| NM_000138.4:c.8530C>T , LRG_778t1:c.8530C>T | NP_000129.3:p.Gln2844Ter | |
| NM_000138.5:c.8530C>T MANE Select | NP_000129.3:p.Gln2844Ter |