HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135952965G>T , CM000667.2:g.135952965G>T | GRCh38 |
NC_000005.9:g.135288654G>T , CM000667.1:g.135288654G>T | GRCh37 |
NC_000005.8:g.135316553G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274507.6:c.49C>A MANE Select | ENSP00000274507.1:p.Leu17Met | |
ENST00000274507.5:c.49C>A | ENSP00000274507.1:p.Leu17Met | |
ENST00000471827.1:n.152C>A | ||
ENST00000512872.1:c.-168C>A | ENSP00000427012.1:n.-168C>A | |
ENST00000514447.2:c.49C>A | ENSP00000421123.2:p.Leu17Met | |
ENST00000522943.5:c.49C>A | ENSP00000429618.1:p.Leu17Met | |
NM_002302.2:c.49C>A | NP_002293.2:p.Leu17Met | |
NM_002302.3:c.49C>A MANE Select | NP_002293.2:p.Leu17Met |