HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675707G>T , CM000685.2:g.38675707G>T | GRCh38 |
NC_000023.10:g.38534961G>T , CM000685.1:g.38534961G>T | GRCh37 |
NC_000023.9:g.38419905G>T | NCBI36 |
NG_009160.1:g.119231G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378482.7:c.444G>T MANE Select | ENSP00000367743.2:p.Leu148= | |
ENST00000286824.6:c.495G>T | ENSP00000286824.6:p.Leu165= | |
ENST00000378482.6:c.444G>T | ENSP00000367743.2:p.Leu148= | |
ENST00000419600.3:n.388G>T | ||
ENST00000465127.1:c.534G>T | ENSP00000417050.1:p.Leu178= | |
ENST00000471410.5:c.*470G>T | ENSP00000419290.1:n.*470G>T | |
ENST00000475216.5:c.*437G>T | ENSP00000418586.1:n.*437G>T | |
ENST00000488893.5:n.627G>T | ||
NM_004615.3:c.444G>T | NP_004606.2:p.Leu148= | |
NM_004615.4:c.444G>T MANE Select | NP_004606.2:p.Leu148= |