HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954124C= , CM000670.2:g.19954124C= | GRCh38 |
NC_000008.10:g.19811635C= , CM000670.1:g.19811635C= | GRCh37 |
NC_000008.9:g.19855915C= | NCBI36 |
NG_008855.1:g.20054C= | |
NG_008855.2:g.57408C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.546C= MANE Select | ENSP00000497642.1:p.Leu182= | |
ENST00000311322.8:c.546C= | ENSP00000309757.6:p.Leu182= | |
ENST00000520959.5:c.318C= | ENSP00000428496.1:p.Leu106= | |
NM_000237.2:c.546C= | NP_000228.1:p.Leu182= | |
NM_000237.3:c.546C= MANE Select | NP_000228.1:p.Leu182= |