Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12760046C>G , CM000686.2:g.12760046C>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.1767-438C>G MANE Select | NP_004645.2:n.1767-438C>G |
| ENST00000338981.7:c.1767-438C>G MANE Select | ENSP00000342812.3:n.1767-438C>G |
| NM_004654.3:c.1767-438C>G | NP_004645.2:n.1767-438C>G |
| ENST00000426564.6:n.1779-438C>G | |
| ENST00000651177.1:c.1767-438C>G | ENSP00000498372.1:n.1767-438C>G |
| XM_011531469.1:c.1767-438C>G | XP_011529771.1:n.1767-438C>G |
| XM_011531470.1:c.1533-438C>G | XP_011529772.1:n.1533-438C>G |
| XM_017030078.2:c.1767-423C>G | XP_016885567.1:n.1767-423C>G |