Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553477G= , CM000673.2:g.17553477G= | GRCh38 |
| NC_000011.9:g.17575024G= , CM000673.1:g.17575024G= | GRCh37 |
| NC_000011.8:g.17531600G= | NCBI36 |
| NG_033191.1:g.11105G= | |
| NG_033191.2:g.11105G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.534G= | ENSP00000382323.2:p.Leu178= | |
| ENST00000399397.6:c.498G= MANE Select | ENSP00000382329.2:p.Leu166= | |
| ENST00000399391.6:c.534G= | ENSP00000382323.2:p.Leu178= | |
| ENST00000399397.5:c.498G= | ENSP00000382329.2:p.Leu166= | |
| ENST00000498332.5:n.404G= | ||
| NM_001277269.1:c.534G= | NP_001264198.1:p.Leu178= | |
| NM_001292063.1:c.498G= | NP_001278992.1:p.Leu166= | |
| NM_001277269.2:c.534G= | NP_001264198.1:p.Leu178= | |
| NM_001292063.2:c.498G= MANE Select | NP_001278992.1:p.Leu166= |