HGVS | Genome Assembly |
---|---|
NC_000015.10:g.23644566T= , CM000677.2:g.23644566T= | GRCh38 |
NC_000015.9:g.23889713T= , CM000677.1:g.23889713T= | GRCh37 |
NC_000015.8:g.21440806T= | NCBI36 |
NG_016776.1:g.8281A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650528.1:c.3177A= MANE Select | ENSP00000497810.1:p.Leu1059= | |
ENST00000532292.2:c.3177A= | ENSP00000433433.2:p.Leu1059= | |
NM_019066.4:c.3177A= | NP_061939.3:p.Leu1059= | |
NM_019066.5:c.3177A= MANE Select | NP_061939.3:p.Leu1059= |