HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675804T= , CM000685.2:g.38675804T= | GRCh38 |
NC_000023.10:g.38535058T= , CM000685.1:g.38535058T= | GRCh37 |
NC_000023.9:g.38420002T= | NCBI36 |
NG_009160.1:g.119328T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.541T= MANE Select | ENSP00000367743.2:p.Cys181= | |
ENST00000286824.6:c.592T= | ENSP00000286824.6:p.Cys198= | |
ENST00000378482.6:c.541T= | ENSP00000367743.2:p.Cys181= | |
ENST00000419600.3:n.485T= | ||
ENST00000465127.1:c.631T= | ENSP00000417050.1:p.Cys211= | |
ENST00000471410.5:c.*567T= | ENSP00000419290.1:n.*567T= | |
ENST00000475216.5:c.*534T= | ENSP00000418586.1:n.*534T= | |
ENST00000488893.5:n.724T= | ||
NM_004615.3:c.541T= | NP_004606.2:p.Cys181= | |
NM_004615.4:c.541T= MANE Select | NP_004606.2:p.Cys181= |