HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135952963C>A , CM000667.2:g.135952963C>A | GRCh38 |
NC_000005.9:g.135288652C>A , CM000667.1:g.135288652C>A | GRCh37 |
NC_000005.8:g.135316551C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274507.6:c.51G>T MANE Select | ENSP00000274507.1:p.Leu17= | |
ENST00000274507.5:c.51G>T | ENSP00000274507.1:p.Leu17= | |
ENST00000471827.1:n.154G>T | ||
ENST00000512872.1:c.-166G>T | ENSP00000427012.1:n.-166G>T | |
ENST00000514447.2:c.51G>T | ENSP00000421123.2:p.Leu17= | |
ENST00000522943.5:c.51G>T | ENSP00000429618.1:p.Leu17= | |
NM_002302.2:c.51G>T | NP_002293.2:p.Leu17= | |
NM_002302.3:c.51G>T MANE Select | NP_002293.2:p.Leu17= |