HGVS | Genome Assembly |
---|---|
NC_000004.12:g.786524G>T , CM000666.2:g.786524G>T | GRCh38 |
NC_000004.11:g.780312G>T , CM000666.1:g.780312G>T | GRCh37 |
NC_000004.10:g.770312G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304062.11:c.382C>A MANE Select | ENSP00000305613.6:p.Leu128Met | |
ENST00000304062.10:c.382C>A | ENSP00000305613.6:p.Leu128Met | |
ENST00000505203.1:c.319C>A | ENSP00000425960.1:p.Leu107Met | |
ENST00000506404.1:n.435C>A | ||
NM_006651.3:c.382C>A | NP_006642.1:p.Leu128Met | |
XM_011513391.1:c.337C>A | XP_011511693.1:p.Leu113Met | |
NM_006651.4:c.382C>A MANE Select | NP_006642.1:p.Leu128Met |