HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675860G>A , CM000685.2:g.38675860G>A | GRCh38 |
NC_000023.10:g.38535114G>A , CM000685.1:g.38535114G>A | GRCh37 |
NC_000023.9:g.38420058G>A | NCBI36 |
NG_009160.1:g.119384G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.597G>A MANE Select | ENSP00000367743.2:p.Lys199= | |
ENST00000286824.6:c.648G>A | ENSP00000286824.6:p.Lys216= | |
ENST00000378482.6:c.597G>A | ENSP00000367743.2:p.Lys199= | |
ENST00000419600.3:n.541G>A | ||
ENST00000465127.1:c.687G>A | ENSP00000417050.1:p.Lys229= | |
ENST00000471410.5:c.*623G>A | ENSP00000419290.1:n.*623G>A | |
ENST00000475216.5:c.*590G>A | ENSP00000418586.1:n.*590G>A | |
NM_004615.3:c.597G>A | NP_004606.2:p.Lys199= | |
NM_004615.4:c.597G>A MANE Select | NP_004606.2:p.Lys199= |