Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883126G>C , CM000676.2:g.100883126G>C | GRCh38 |
| NC_000014.8:g.101349463G>C , CM000676.1:g.101349463G>C | GRCh37 |
| NC_000014.7:g.100419216G>C | NCBI36 |
| NG_045001.1:g.6722C>G | |
| NG_045000.5:g.51858G>C | |
| NG_045000.6:g.51858G>C | |
| NG_045001.2:g.25597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1663C>G MANE Select | ENSP00000497482.1:p.Leu555Val | |
| ENST00000534062.1:c.1663C>G | ENSP00000435342.1:p.Leu555Val | |
| NM_001134888.2:c.1663C>G | NP_001128360.1:p.Leu555Val | |
| NM_001134888.3:c.1663C>G MANE Select | NP_001128360.1:p.Leu555Val |