Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410640A= , CM000677.2:g.48410640A= | GRCh38 |
| NC_000015.9:g.48702837A= , CM000677.1:g.48702837A= | GRCh37 |
| NC_000015.8:g.46490129A= | NCBI36 |
| NG_008805.2:g.240149T= , LRG_778:g.240149T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1774T= | ENSP00000453958.2:n.*1774T= | |
| ENST00000682158.1:n.2347T= | ||
| ENST00000682170.1:n.3147T= | ||
| ENST00000682767.1:n.2263T= | ||
| ENST00000316623.10:c.*350T= MANE Select | ENSP00000325527.5:n.*350T= | |
| ENST00000316623.9:c.*350T= | ENSP00000325527.5:n.*350T= | |
| ENST00000559133.5:c.4335T= | ||
| NM_000138.4:c.*350T= , LRG_778t1:c.*350T= | NP_000129.3:n.*350T= | |
| NM_000138.5:c.*350T= MANE Select | NP_000129.3:n.*350T= |