HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067923A= , CM000677.2:g.43067923A= | GRCh38 |
NC_000015.9:g.43360121A= , CM000677.1:g.43360121A= | GRCh37 |
NC_000015.8:g.41147413A= | NCBI36 |
NG_012182.1:g.43166T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.773T= MANE Select | ENSP00000290650.4:p.Leu258= | |
ENST00000290650.8:c.773T= | ENSP00000290650.4:p.Leu258= | |
ENST00000546274.6:c.773T= | ENSP00000477932.1:p.Leu258= | |
ENST00000563239.1:c.*202+2976T= | ENSP00000456502.1:n.*202+2976T= | |
NM_174916.2:c.773T= | NP_777576.1:p.Leu258= | |
NM_174916.3:c.773T= MANE Select | NP_777576.1:p.Leu258= |