Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410850T= , CM000677.2:g.48410850T= | GRCh38 |
| NC_000015.9:g.48703047T= , CM000677.1:g.48703047T= | GRCh37 |
| NC_000015.8:g.46490339T= | NCBI36 |
| NG_008805.2:g.239939A= , LRG_778:g.239939A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1564A= | ENSP00000453958.2:n.*1564A= | |
| ENST00000682158.1:n.2137A= | ||
| ENST00000682170.1:n.2937A= | ||
| ENST00000682767.1:n.2053A= | ||
| ENST00000316623.10:c.*140A= MANE Select | ENSP00000325527.5:n.*140A= | |
| ENST00000316623.9:c.*140A= | ENSP00000325527.5:n.*140A= | |
| ENST00000559133.5:c.4125A= | ||
| NM_000138.4:c.*140A= , LRG_778t1:c.*140A= | NP_000129.3:n.*140A= | |
| NM_000138.5:c.*140A= MANE Select | NP_000129.3:n.*140A= |