HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121626987C>T , CM000674.2:g.121626987C>T | GRCh38 |
NC_000012.10:g.120549276C>T | NCBI36 |
NG_007500.1:g.5413C>T , LRG_93:g.5413C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698901.1:n.425+54C>T | ||
ENST00000617316.2:c.240C>T | ENSP00000482568.2:p.Tyr80= | |
ENST00000646827.1:n.438C>T | ||
ENST00000611718.1:c.51C>T | ENSP00000477953.1:p.Tyr17= | |
ENST00000616379.1:c.240C>T | ENSP00000480616.1:p.Tyr80= | |
ENST00000617316.1:c.51C>T | ENSP00000482568.1:p.Tyr17= | |
NM_032790.3:c.240C>T , LRG_93t1:c.240C>T | NP_116179.2:p.Tyr80= |