Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410888G= , CM000677.2:g.48410888G= | GRCh38 |
| NC_000015.9:g.48703085G= , CM000677.1:g.48703085G= | GRCh37 |
| NC_000015.8:g.46490377G= | NCBI36 |
| NG_008805.2:g.239901C= , LRG_778:g.239901C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1526C= | ENSP00000453958.2:n.*1526C= | |
| ENST00000682158.1:n.2099C= | ||
| ENST00000682170.1:n.2899C= | ||
| ENST00000682767.1:n.2015C= | ||
| ENST00000316623.10:c.*102C= MANE Select | ENSP00000325527.5:n.*102C= | |
| ENST00000316623.9:c.*102C= | ENSP00000325527.5:n.*102C= | |
| ENST00000559133.5:c.4087C= | ||
| NM_000138.4:c.*102C= , LRG_778t1:c.*102C= | NP_000129.3:n.*102C= | |
| NM_000138.5:c.*102C= MANE Select | NP_000129.3:n.*102C= |